bluuebunny/crossref_metadata_2025 huggingface dataset:
Histologic features in an autoimmune gastritis patient with hypergastrinemia: Call for a grading system for G cell hyperplasia
Authors: Zia S Q , Chhetri Aryal S , Jaratli H , Wang Z
Published: October 2021

Introduction/Objective

Autoimmune gastritis (AG) is characterized by oxyntic glands destruction, metaplasia, enterochromaffin-like endocrine cell abnormality and G-cell hyperplasia with hypergastrinemia. The gastrin level can be extraordinarily high in certain cases to justify suspicion of Zollinger-Ellison syndrome. We herein report one such case and discuss clinical implication of a grading system for G-cell hyperplasia to correlate histology with gastrin levels.

Methods/Case Report

The patient was a symptomatic 65 year-old female with hypergastrinemia (2,068 pg/mL), negative abdomen/pelvis CT scan, positive anti-intrinsic factor and anti-parietal cell antibodies. Under esophagogastroduodenoscopy, biopsies were obtained from gastric cardia, fundus, corpus, incisura angularis, and antrum. Morphology and immunostains confirmed autoimmune gastritis. Diffuse linear pattern G-cell hyperplasia was evident in antrum and incisura angularis, counting up to 200 G-cells per linear millimeter. One study defined G-cell hyperplasia as >140 gastrin-positive cells per linear millimeter while another proposed a 2-tier stratification, i.e., simple hyperplasia (4-5 cells for each gland) and linear hyperplasia (continuous chain-like distribution of G-cells). Such scoring, however, was largely qualitative and fell short in delineating the extent of G-cell hyperplasia and correlation with gastrinemia.

Results (if a Case Study enter NA)

NA

Conclusion

Lack of G-cell grading system hindered our unequivocal determination of the G-cell hyperplasia as underlying or contributing cause of hypergastrenemia. The unique features of our case highlighted the necessity for installing a practical grading system that incorporates G-cell density, pattern (linear vs. nodular), extent of involved areas, other features of AG to correspond to gastrin level. With accumulation of clinical information, one such grading system is feasible and will improve our knowledge and patient care.
Rapid Progression of Non-Alcoholic Fatty Liver Disease into Cirrhotic Liver in Trisomy 21 Patient: A Case Report and Brief Literature Review
Authors: Sonani H , Srivastava A C , Varshney N
Published: October 2021

Introduction/Objective

Trisomy 21 (Down syndrome) is the most common chromosomal disorder. Among trisomy 21 patients in the pediatric setting, obesity is one of the most common conditions, with prevalence ranging from 23% to 70%. Trisomy 21 has several risk factors for obesity, including increased unfavorable dietary patterns, lower levels of physical activity, and other comorbidities. Epidemiologic studies found this increase in pediatric obesity along with an increased prevalence of non-alcoholic fatty liver disease (NAFLD). Furthermore, children with trisomy 21 have a higher prevalence of NAFLD than children without trisomy 21, even in the absence of obesity. As per literature, NAFLD is present in 64.3 percent of patients with Trisomy 21.

Methods/Case Report

We present a case of a 17-year-old female with trisomy 21 who was diagnosed with B-cell acute lymphoblastic leukemia (B-ALL) after being admitted due to abdominal pain and decreased appetite. The patient was found to have elevated liver enzymes with abnormal ultrasonography findings. MR images showed fatty liver infiltration with a hepatic fat fraction of 47%. Subsequently, a percutaneous liver biopsy was obtained. Microscopic examination showed minimal hepatic parenchyma with collapsed architecture replaced by abundant steatosis (approximately 90%). Portal triads showed mild lymphocytic inflammation and presence of neutrophils. No fibrosis was confirmed with the trichrome stain. She was then enrolled on AALL1731, a clinical trial for a therapy to treat B-ALL. A 4-month follow-up MR image showed hepatic steatosis. After 9 months, liver biopsy revealed cirrhotic liver along with portal lymphoplasmacytic inflammation, bile duct proliferation and mild macro vesicular steatosis.

Results (if a Case Study enter NA)

NA

Conclusion

This case report signifies the importance of histological evaluation of liver abnormalities to provide better treatment. It is vital to schedule close follow-ups in Trisomy 21 patient polpulation, because NAFLD can transform rapidly into a completely cirrhotic liver escpecially with acute lymphoblastic leukemia on chemotherapy. We also emphasizes early lifestyle modifications, including weight loss and proper diet.
Agreement and Intraobserver Variability in Detection of Helicobacter pylori Infection Using Routine Histology, H. pylori Immunohistochemical Stain, and Warthin-Starry Special Stain on Gastric Tissue Biopsy Samples
Authors: Oyedeji O S , Rodgers S , Zia S Q , Ormsby A
Published: October 2021

Introduction/Objective

Helicobacter pylori (HP) is a prevalent cause of gastritis in the US and worldwide. Accurate detection of the organism is important for appropriate treatment. Diagnosis is made using immunohistochemistry and special stains including Warthin-Starry stain (WS) which is low cost, technically easy to perform on tissue sections, and can be automated. We aimed to assess interobserver variability, reproducibility and validity of hematoxylin and eosin stain (H&E), WS and anti-Helicobacter pylori immunohistochemical staining (HP-IHC) for the histopathological identification and evaluation of HP organisms on gastric mucosa biopsies.

Methods/Case Report

We prospectively evaluated gastric biopsies from ten adult patients. These patients underwent upper gastrointestinal endoscopy with subsequent biopsy for various abdominal complaints. Seven of the ten biopsies (7/10) were HP infection positive, and three cases (3/10) were HP negative by H&E stain and HP-IHC (determined by GI Pathologist). The presence or absence and density of HP, were assessed on H&E, HP-IHC and WS in blinded fashion by five general surgical (GS) pathologists. The GS pathologists assessed the cases for presence and density of HP using the semi-quantitative modified Sydney classification (none, mild, moderate, and severe). Percentage agreement and interobserver variablilty using Cohen-Kappas statistics (KS) were calculated.

Results (if a Case Study enter NA)

The percentage agreement for presence or absence of HP in the biopsies with H&E, HP-IHC and WS stains were 91%, 98% and 99%, respectively. The interobserver agreement for evaluation of presence of HP was excellent with WS staining method (Overall KS = 0.737 95%, Confidence Interval (CI) = 0.501- 0.973) and HP-IHC (Overall KS = 0.783, 95% CI = 0.585-0.980). Agreement for H&E was moderate (Overall KS = 0.532, 95% CI= 0.392-0.672). HP density agreement was excellent using WS and HP-IHC and H&E was in the moderate range.

Conclusion

This study found excellent interobserver agreement using IHC and WS. While IHC is the most specific stain, WS is more sensitive in identifying the shape and morphology of HP organisms and is an efficient and low-cost alternative with excellent morphology in general surgical practice.
A Rare Case of Rectal Mixed Adeno-Neuroendocrine Carcinoma (MANEC) with Liver Metastasis
Authors: Akkad Wattar M , Tarakji R , Bibars W
Published: October 2021

Introduction/Objective

Mixed Adeno-Neuroendocrine Carcinoma (MANEC) is a rare subtype of colorectal cancer which was recognized and described by the world health organization (WHO) in 2010. It was defined as malignant neoplasms in which each component represents at least 30% of the lesion. In this abstract, we present a case of mixed adeno-neuroendocine carcinoma of the rectum with metastasis of the neuroendocrine component to the liver. We discuss the histomorphological and immunohistochemical features of this tumor.

Methods/Case Report

A 64-year-old male presented with abdominal pain in the right upper quadrant area. An abdominal CT scan showed multiple nodules in the liver as well as a mass lesion in the rectum. Liver needle core biopsy revealed infiltrating nests of atypical cells with marked pleomorphism, a variable amount of cytoplasm, and prominent nucleoli. Mitotic activity and necrosis were seen. By immunohistochemical staining, the tumor cells were negative for CK7 and CK20, positive for CD56, and partially positive for CDX2. Although glands formation was not seen; however, given the positivity of CDX2 as well as the colonic mass, mismatch protein analysis (MMR) was performed and it was intact. These findings were consistent with poorly differentiated high-grade neuroendocrine carcinoma. The rectal mass was excised through colonoscopy and revealed invasive carcinoma with morphology similar to that of the liver biopsy in addition to a vague glandular differentiation. Tubulovillous adenoma was also seen. On immunohistochemical staining, the invasive component was positive for CD56, synaptophysin, and chromogranin A, partially positive for CDX2, and negative for CK20, consistent with the neuroendocrine component. The adenoma was positive for CK20, and CDX2, and negative for CD56. Rare positivity was seen by synaptophysin and chromogranin A. The carcinoma and the adenoma were both positive for P53. The neuroendocrine carcinoma comprised 40-50% of the tumor.

Results (if a Case Study enter NA)

NA

Conclusion

Only a few cases of Mixed Adeno-Neuroendocrine Carcinoma (MANEC) were reported. We add a new case with liver metastasis. The systematic application of immunohistochemical studies aided in the recognition of each component of the neoplasm.
Pancreatic Carcinosarcoma with a Rare Presentation
Authors: Khan J , Guo S
Published: October 2021

Introduction/Objective

Carcino-sarcoma of the pancreas is a rare tumor and very limited clinical and pathologic data have been reported in the literature. As per World Health Organization (WHO) classification of tumors of the digestive system, the carcinosarcoma of the pancreas is classified together with sarcomatoid carcinoma and anaplastic giant cell carcinomas in undifferentiated carcinoma of pancreas. Carcinosarcoma is a rare entity with very poor prognosis.

Methods/Case Report

Here we report a rare case of pancreatic carcinosarcoma in a 68 year old male patient who underwent a pancreatoduodenectomy for unilocular cystic mass in the head of the pancreas. The mass grossly replaces the whole head of the pancreas. Histologically, the lesion showed a high-grade spindle cell component and adjacent moderately differentiated adenocarcinoma. On immunohistochemical examination, the carcinomatous component was positive for epithelial markers, and the sarcomatous component was positive for DOG1 and had a focal cytoplasmic staining for S-100. The diagnosis of pancreatic carcinosarcoma was rendered. Treatment options are same as of pancreatic carcinoma. Surgical resection is the best option available for patients. Systemic chemotherapy is indicated for patients with distant metastasis or patients with other contraindications. Despite surgery and adjuvant chemotherapy, recurrence rates are high, and prognosis is poor. However, there are no relevant standard chemotherapies available. Based on the limited number of reported cases, the prognosis of carcinosarcoma of the pancreas appears to be poor. But some cases with long term survival have been reported. There are very few primary pancreatic neoplasms with carcinomatous and sarcomatous components reported in the current literature.

Results (if a Case Study enter NA)

NA

Conclusion

This case highlights the importance of familiarity with histopathology of this rare entity, and to order proper immunohistochemical and molecular work-up when there is a suspicious abnormal spindle cell component.
Malignant Gastrointestinal Neuroectodermal Tumor: a case report and a review of the literature
Authors: Youssef B , Asberry D , Mohamed R
Published: October 2021

Introduction/Objective

Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare soft tissue tumor arising in the wall of the gastrointestinal tract. The GNET was first described as an osteoclast rich tumor of the gastrointestinal tract with features resembling clear cell sarcoma, with only few cases reported in the literature.

Methods/Case Report

We report a case of a 71-year-old man with a past medical history of hypertension, hyperlipidemia, and benign prostatic hyperplasia presented with complaints of dyspnea, dizziness, fatigue, black stools, and a recent syncopal episode. Laboratory testing revealed anemia (HB 5.4 g/dL). Esophagogastroduodenoscopy demonstrated a submucosal gastric mass. An abdominal CT scan confirmed a 7.8 cm mass along the gastric cardia and fundus.

Results (if a Case Study enter NA)

Biopsy rendered a gastrointestinal neuroectodermal tumor (GNET). Microscopically, the tumor cells were spindle with eosinophilic cytoplasm and arranged in fascicules. They were positive for CD56, CD99, and Fli-1, synaptophysin, and negative for chromogranin, TTF-1, SMA, desmin, CD34, EMA, pan-cytokeratin, and lymphoid markers. Two months later, further imaging confirmed metastasis to the liver and spleen. GNETs typically arise within the muscularis propria of the gastrointestinal tract and often extend into the submucosa and subserosa.

Conclusion

The most important differential of GNET is the clear cell sarcoma of the gastrointestinal tract (CCS-GI). Both share similar morphological as well as molecular features and show S100 positivity; however, the lack of melanocytic differentiation in GNET distinguishes it from CCS-GI. Both typically show rearrangements of the EWSR1 gene, with t(12;22) (q13;q12) EWSR1-ATF1 or t(2;22)(q34;q12) EWSR1-CREB1 fusions. Pathologists should be aware of GNET diagnostic entity due to its aggressive behavior and high rate of recurrence and mortality even after complete resection.
Gastric Adenomyoma: Salient Imitator
Authors: Kobalka A J , Singh S
Published: October 2021

Introduction/Objective

Gastric adenomyoma is a lesion characterized by proliferation of epithelium and smooth muscle in the stomach or small bowel. By ultrasound, gastric adenomyoma usually appears as a submucosal nodule with a cystic center. They can mimic many benign and malignant conditions and are an important differential diagnosis to consider in fine needle aspiration of submucosal upper gastrointestinal lesions.

Methods/Case Report

We present a 30-year-old male who presented with abdominal pain, dyspepsia, and heartburn. Esophagogastroduodenoscopy demonstrated a 10 mm well-circumscribed hypoechoic mass in the antral submucosa along the greater curvature of the stomach. Two years later, the lesion was 18.6 mm in greatest dimension and fine needle aspiration was performed. Cell block showed foci of benign gastric glands and bland smooth muscle tissue, positive for smooth muscle actin and desmin, and negative for CD34 and c-kit (CD117). Gastrointestinal stromal tumor was the main differential diagnosis and adenomyosis was not considered, thus, the biopsy was thought to represent normal gastric wall, and the glands were dismissed as contaminant from the aspiration. A subsequent ultrasound two years later again demonstrated the lesion, now 21.5 mm in greatest dimension, and definitive resection was performed. Histologic examination showed a segment of stomach with gastric antral-type mucosa and an underlying mass forming lesion consisting of scattered gastric type glands admixed with smooth muscle bundles, consistent with gastric adenomyoma. The glands were completely surrounded by smooth muscle and lamina propria. Our patient has been asyptomatic one year since resection of the gastric adenomyoma.

Results (if a Case Study enter NA)

NA

Conclusion

Gastric adenomyoma is an important differential of intramural spindle cell neoplasms of the gastrointestinal tract alongside many benign and malignant conditions. Consideration of gastric adenomyoma at the time of the original biopsy would have spared the patient uncertainty regarding their prognosis and allowed for definitive resection two years earlier.
H. pylori Pattern Gastritis with Negative Helicobacter Immunohistochemical Stain: Does A Specific Comment in Pathology Report Impact Clinical Management?
Authors: Hu X , Lucas E , Hammer S , Gopal P , Bhalla A , Panarelli N , Westerhoff M , Cheng J , Nalbantoglu I
Published: October 2021

Introduction/Objective

The clinical significance of H. pylori (HP) pattern of gastritis with a negative Helicobacter IHC stain on gastric biopsy is unclear. Some pathologists report this pattern in cases that are highly suggestive of HP infection with a comment raising the possibility of HP infection; however, the subsequent clinical management of these patients has not been well described.

Methods/Case Report

We conducted a retrospective comparison study of patients with gastric biopsy between 2016 and 2019. Group 1 included patients with chronic active or chronic inactive gastritis and negative HP IHC with a comment stating the gastritis pattern is suggestive of HP. Group 2 included patients with chronic active or chronic inactive gastritis and negative HP IHC with no comment about HP pattern.

Results (if a Case Study enter NA)

We identified 60 patients in Group 1 which were compared to 63 patients in Group 2. Group 1 more frequently had history of HP (48.3% vs. 29.1%, p<0.05). After diagnosis, Group 1 more frequently received treatment (51.7% vs. 20.6%, p<0.001). Of those who received treatment, Group 1 more frequently received HP treatment (triple or quadruple therapy; 21.7% vs. 1.6%, p<0.001). History of HP did not affect whether a patient was treated (p>0.05). Following post-biopsy HP treatment, more patients in Group 1 received fecal antigen test (23.7% vs. 5.5%, p<0.01). Age, gender, NSAID and PPI use did not differ between groups.

Conclusion

Adding the diagnostic comment raising the possibility of HP for patients with HP pattern gastritis with negative HP IHC changes clinical management and it is independent of patients’ prior HP history.
Goblet cell adenocarcinoma of the appendix: An incidental finding of a rare tumor which was recently renamed in 2019 World Health Organization classification update
Authors: Rajack F , Abdulbaki R , Chen W
Published: October 2021

Introduction/Objective

Goblet cell adenocarcinoma (formerly goblet cell carcinoid) is a rare tumor almost exclusively involving the appendix. It is an amphicrine tumor consisting of both epithelial and neuroendocrine elements containing goblet cells. In the 2019 WHO classification update, GCC was reclassified as goblet cell adenocarcinoma of the appendix as it is recognized to have predominantly mucin secreting cells and a minor neuroendocrine component.

Methods/Case Report

A 72 year old,morbidly obese male presented with a 2 week history of abdominal pain and bilious vomiting. Imaging revealed a peri-appendiceal abscess. Due to the chronicity of his symptoms, he was treated conservatively with drainage of the abscess and intravenous antibiotics. He responded well and underwent elective laparoscopic appendectomy; at which time, the appendix appeared grossly unremarkable, measuring 5.1 x 0.9 x 0.3 cm with a wall thickness of 0.5 cm. Microscopically small nests and clusters of goblet cells circumferentially invaded dense collagenous stroma in the appendiceal wall. The neoplastic cells had large mucin vacuoles and small basally located nuclei. The cells were positive for CK20, CDX2, CD56, synaptophysin and focally positive for chromogranin. Ki-67 was 10%. CK7 was negative. These tumors are now graded and staged similar to colonic adenocarcinomas according to the 5 th edition of the World Health Organization Classification of Tumors - Digestive System Tumors.

Results (if a Case Study enter NA)

NA

Conclusion

This case demonstrates that this rare tumor may be an incidental finding in an elderly patient presenting with appendicitis; accurate diagnosis of this rare tumor may require submission of the entire appendix for microscopic evaluation.
Case of renal cell carcinoma with immunotherapy effect mimicking xanthogranulomatous pyelonephritis
Authors: Wang Y , Ganesan S , Rayes-Danan R , Williamson S
Published: October 2021

Introduction/Objective

The histologic features of renal cell carcinoma (RCC) after immunotherapy are not fully established. We report the pathologic findings of one case of clear cell RCC after treatment with pembrolizumab which is a humanized monoclonal anti-PD1 antibody.

Methods/Case Report

46-year-old man completed three cycles of pembrolizumab for recurrent basal cell carcinoma. A 5.0 cm mass was incidentally found within left kidney during staging CT scan. He subsequently had left radical nephrectomy. Pathologic examination of nephrectomy specimen identified one 5.0 cm, well-circumscribed, solid mass in the upper pole, confined to the kidney with predominantly hemorrhagic, focally golden-yellow soft cut surface. The remaining parenchyma appears unremarkable. The pelvicalyceal system is not dilated. Sections of tumor show predominance of foamy histiocytes, lymphoplasmacytic infiltrate, and scattered cells having pale or eosinophilic cytoplasm, conspicuous nucleoli and low nuclear: cytoplasm ratio. Cholesterol clefts and hemosiderin deposits are noted. The immunostaining profile highlights areas suspicious for viable tumor cells by using pan-keratin, CK8/18, EMA, CA9 and CD10. Focal positivity in the same area is noted by the stains of PAX 8 and AMACR. However, with numerous histiocytes, it is difficult to determine if the tumor cells are positive for Vimentin. Moreover CD 117 is negative in the tumor cells.

Results (if a Case Study enter NA)

NA

Conclusion

Differential diagnosis includes renal cell carcinoma and xanthogranulomatous pyelonephritis. The overall findings support a clear cell RCC affected by the immunotherapy. With immunotherapy-based combinations becoming standard of care in advanced malignancies, it makes the pathological diagnosis more challenging and difficult, especially for incidental tumors.
Capillary Hemangioma of the Testis: A Case Report and Literature Review
Authors: Ahmad A , Shakil K B
Published: October 2021

Introduction/Objective

Testicular capillary hemangioma is a rare benign vascular tumor and typically occurs in patients younger than 20 years. Study suggests that the mean age of these patients is usually 25.1 ± 22.7 years. We report a case of a 63-year-old man who underwent an uncomplicated radical orchiectomy for scrotal irritation and testicular fullness.

Methods/Case Report

Clinically he was found to have a large testicular mass. Ultrasound showed cystocele and an intratesticular tumor. Increased LDH was also found. Gross examination showed a single large cystic cavity containing yellow-colored fluid and a well-circumscribed tan-brown nodule measuring 2.5 × 1.8 × 1.0 cm within the testicular parenchyma. There was no extension into the tunica albuginea. Microscopic examination showed groups of capillaries of varying sizes in a lobular arrangement with bland spindle-like endothelial cells lining these capillary structures. The circumscribed vascular lesion was well-demarcated from the testicular parenchyma by a fibrous 0.1-cm pseudocapsule. The benign nature of this lesion was suggested by the lack of any mitotic activity, anaplasia, or dysplasia. Immunohistochemical staining was strongly positive for endothelial markers (CD31 and CD 34), and negative for mesothelial (WT1) and lymphatic markers (D2-40), excluding an adenomatoid tumor. Based on these characteristic morphological and immunohistochemical findings, the diagnosis of testicular capillary hemangioma was made. After 6 months of follow-up, the patient was well without any clinical evidence of recurrence.

Results (if a Case Study enter NA)

NA

Conclusion

While rarity of testicular capillary hemangioma impedes significant changes in how we approach adult testicular masses, the possibility of a benign tumor should always be in mind to consider. This is especially pertinent when patients fall outside the typical age range for germ-cell tumors, and for patients with a solitary testicular mass.
Mesonephric Like-Carcinoma (MLCA) of the Uterus with a Predominant Spindled Morphology: A Case Report
Authors: Ibrahim E , Sheridan T , Mandavilli S
Published: October 2021

Introduction/Objective

Mesonephric-like carcinoma of the uterus is an increasingly recognized carcinoma with mesonephric differentiation, but without association with mesonephric remnants. We present a case of a 60-year-old woman presented with postmenopausal bleeding.

Methods/Case Report

Pelvic MRI showed possibly a cervical lobulated lesion (4.4cm) extending into the endocervical canal. Initial biopsy of this mass showed a spindle cell neoplasm raising possibility of an endometrial stromal sarcoma. On subsequent radical hysterectomy, there was a mass arising in the lower uterine segment (LUS) with circumferential cervical involvement. The tumor was comprised of sheets of epithelioid to spindle cells with scant cytoplasm and indistinct cell borders. Abundant mitotic figures and foci of necrosis were identified. Focal areas showed dense sclerosis with cords of cells, and only rare areas showed tubule formation with scant secretions. By immunohistochemistry (IHC), the tumor cells were positive for keratin AE1/AE3 (strong, diffuse), TTF-1, p63, p16, CD10 (with luminal accentuation); PAX8, desmin and caldesmon showed focal/rare positivity. Other markers were negative, including GATA3 (patchy, weak), ER and PR. Mismatch repair proteins were intact. Next-generation sequencing (NGS) revealed a KRAS mutation. Considering strong expression of epithelial markers, focal tubule formation with positive TTF-1 and negative GATA-3 labeling, and absence of identified mesonephric remnants, the tumor was classified as a high-grade mesonephric-like carcinoma of the uterus (LUS). Pelvic lymph nodes were negative (pT2 N0), and the patient is receiving cisplatin and external beam radiation.

Results (if a Case Study enter NA)

NA

Conclusion

MLCA with a prominent spindled/sarcomatoid component can be difficult to diagnose. Ancillary testing including a broad IHC panel with TTF-1, GATA-3 and NGS may be useful to aid in the diagnosis.
Extrauterine Epithelioid Trophoblastic Tumor (ETT) Arising from an Antecedent Undiagnosed Molar Pregnancy Presenting as an Adnexal mass: A Case Report
Authors: Gallardo J , Hummel K , McCluskey K , Masand R , Sunde J
Published: October 2021

Introduction/Objective

Epithelioid trophoblastic tumor (ETT) is an extremely rare neoplasm derived from chorionic type intermediate trophoblast. ETT usually follows an antecedent term pregnancy but can also follow spontaneous abortions or molar pregnancy. ETT most often arises from the endometrium, followed by the cervix. Extrauterine ETT are extremely rare, with few cases reported in literature.

Methods/Case Report

A 41-year-old woman with three term pregnancies presented with abdominal pain, ten years after her last pregnancy. Imaging findings of a 3.5 cm adnexal mass coupled with an elevated serum β-hCG (~ 900 mIU/ml), led to the suspicion of an ectopic pregnancy. Hysterectomy with salpingectomy revealed a 4.7 cm, tan- yellow, necrotic mass in the adnexal region abutting but distinct from the uterine serosa. Histologic evaluation showed a well- circumscribed tumor with pushing borders. The tumor cells were epithelioid with well-defined eosinophilic cytoplasm, monomorphic nuclei, frequent mitosis, and abundant geographic necrosis. The tumor cells were positive for β-hCG, GATA-3, PLAP and inhibin, with focal weak staining squamous markers p63 and p40. DNA fingerprinting analysis, performed to confirm the diagnosis of ETT, revealed a homozygous tumor with two copies of non-maternal genes indicating that the antecedent index gestation giving rise to the tumor was an undiagnosed hydatidiform mole. Following surgery, serum β-hCG levels were normal and the patient is currently on surveillance.

Results (if a Case Study enter NA)

NA

Conclusion

We present an extremely rare case of extrauterine ETT arising from a previously undetected molar pregnancy. The diagnosis should be suspected when a mass is observed at extrauterine sites with elevated β-hCG levels in patients with or without vaginal bleeding. Histologic differential of squamous cell carcinoma needs to be ruled out with immunostains. Due to its rarity and highly variable presentation, this entity remains a diagnostic challenge. DNA fingerprinting analysis demonstrating non-maternal genes can help confirm the diagnosis of ETT.
A Rare Case of Cavernous Angiomatosis of the Uterus
Authors: Prakash V , Middleton C E , Shenoy V
Published: October 2021

Introduction/Objective

Angiomatosis is a rare, non-neoplastic vascular malformation characterized by the proliferation of blood vessels which involve skin, soft tissue, and bone. Angiomatosis of the female genital tract is extremely rare with very few cases described in the English literature.

Methods/Case Report

We present a case of an unexpected finding of angiomatosis of the uterus and cervix in a 34- year-old nulliparous female with a history of abnormal uterine bleeding and dysmenorrhea of one year duration. Imaging studies showed an anteverted uterus measuring 9 cm × 6 cm × 5 cm with thickened irregular endometrium, blood clots within the endometrial cavity, and subserosal uterine fibroids. A subsequent endometrial curettage showed benign superficial endometrium. Hysterectomy was performed and histopathological examination revealed diffuse haphazardly arranged large vascular channels within the uterine wall and cervical stroma. A diagnosis of cavernous angiomatosis of the uterus and cervix was made.

Results (if a Case Study enter NA)

NA

Conclusion

Angiomatosis of the female genital tract is a rare vascular proliferation that tends to grow at a slow rate and cause heavy menstrual bleeding in otherwise healthy patients. Differential diagnoses of angiomatosis include other vascular tumors such as hemangiomas, lymphangioma, arteriovenous malformation and papillary endothelial hyperplasia. Clinical examination and investigations like hysteroscopy, endometrial curettage and ultrasonography may not help in accurate diagnosis. Definitive diagnosis relies heavily on histopathological examination. Treatment of symptomatic angiomatosis is purely surgical and in our case, was curative. Following treatment, recurrences can occur and appropriate surveillance is recommended. Malignant transformation have not been reported. It is important to be aware of this rare entity to make an accurate diagnosis.
Characterization of A Rare Case of Vulvar Epithelioid Sarcoma with local recurrence and metastases
Authors: Shkolnik E , Cai D
Published: October 2021

Introduction/Objective

Epithelioid sarcoma (ES) is a rare, malignant mesenchymal neoplasm that has a known tendency for local recurrence, regional lymph node involvement, and distant metastases. Two histologic variants have been recognized: classic ES also known as the distal type, and proximal-type ES (PES). The classic ES is common in young adults. It occurs more frequently in the distal upper extremities followed by the distal lower limbs and has a male prevalence of 2:1. Conversely, PES commonly involves deep tissues in the pelvic region, including the genital area. It tends to occur in older patients and follows a more aggressive clinical course. In the female genital tract, PES occurs most frequently in the vulva. The incidence of primary sarcoma of the vulva accounts for 1.5-5% of all malignant tumors, making PES a very rare incidence.

Methods/Case Report

Here we report a 60-year-old female diagnosed with vulvar epithelioid sarcoma treated with a right radical vulvectomy and bilateral inguinal lymph node dissection in 2008. In 2017, further surgery and adjuvant radiation were given for local recurrence. In 2020, the patient developed left hip pain and was found to have an expansile lytic lesion in the left proximal femur. Extensive resection was performed. Grossly the vulvar lesion was nodular with diffuse hemorrhage, degeneration, and necrosis. Microscopically, the tumor cells had large vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. Histologically, the morphology of the tumor cells are similar for the primary vulvar specimen and the bone metastases. Immunohistochemically, the tumor cells are positive for vimentin, GATA, FLI-1, SMA, SMHC, partially positive for CAM5.2, AE1/AE3, CD31, and CD163. Immunohistochemistry was negative for CDX2, CD56, S-100, TTF-1, CK5/6, CK20, P40, mammoglobin, MOC31, ER, CK7, CK903, HMB45, PAX8. A Ki-67 proliferative index was around 30-40%. NGS molecular testing detected a SMARCB1 mutation with loss of exons 1-3 and exons 7-9 supporting the diagnosis of epithelioid sarcoma.

Results (if a Case Study enter NA)

NA

Conclusion

In summary, we report a case of PES of the vulva in a 60 year old female. Grossly, the lesion was nodular with histology showing large vesicular nuclei, prominent nucleoli, and abundant eosinophilic cytoplasm. It showed loss of INI1/SMARCB1 nuclear expression. The patient is receiving further adjuvant treatment and shows no new metastases.
High-Grade Sarcoma Arising in the Background of Growing Teratoma Syndrome; A Rare Case
Authors: Sadiq Q , Mohammed S , Yadak N , Khan F
Published: October 2021

Introduction/Objective

Growing teratoma syndrome is a rare condition seen in patients with a history of immature teratomas or mixed germ cell tumor status post-treatment. It usually occurs within the first two years of diagnosis but rarely can be seen years later.

Methods/Case Report

We report a case of a 48-year-old female with a previous history of ovarian malignancy in adolescence status post-TAH/BSO and chemotherapy, now presenting with a 23 cm multi cystic septate mass with some solid components in the subdiaphragmatic area, extending into the liver on imaging. Nodular implants along the surface of the right hepatic lobe and multiple peritoneal implants were seen. Histology of peritoneal implants showed fibro adipose tissue admixed with rare scattered glandular elements, epithelial fragments, and mature neuroglial tissue, consistent with mature teratoma. Liver biopsy revealed short fascicles of spindled, epithelioid and rhabdoid tumor cells admixed with foci of the myxoid stroma. Scattered moderate cytologic atypia, atypical mitosis, and necrosis were appreciated. Tumor cells showed strong and diffuse reactivity to vimentin while being negative for epithelial, neural/mesenchymal, mesothelial, sex cord-stromal, and germ cell differentiation markers. Differential diagnostic considerations included spindle cell transformation of a germ cell tumor or high-grade sarcoma, not otherwise specified arising in the background of growing teratoma syndrome. FISH testing for isochromosome 12p was negative excluding sarcomatoid germ cell tumor.

Results (if a Case Study enter NA)

NA

Conclusion

This case study highlights the importance of considering the rare complication of high-grade sarcoma arising in the background of growing teratoma syndrome.
HPV-Related Multi-Phenotypic Sinonasal Carcinoma with Aggressive Clinical Behavior; A Rare Case
Authors: Ha L , Sadiq Q , Singh J , Khan F
Published: October 2021

Introduction/Objective

Human Papilloma Virus (HPV)-related multiphenotypic sinonasal carcinoma, previously known as HPV-related sinonasal carcinoma with adenoid cystic carcinoma-like features, is a rare type of sinonasal carcinoma with both epithelial-derived and salivary gland-type morphologic features. It is associated with high-risk HPV, but lacks MYB gene rearrangements.

Methods/Case Report

We report a case of a 59-year-old male who presented with a rapidly growing sinonasal mass. On MRI, a left nasal cavity lesion was identified growing laterally along the frontal process of the maxilla, extending into the middle meatus and into the maxillary sinus. Patient underwent a complex left medial maxillectomy, spheno- ethmoidectomy, and sinusotomy. On gross evaluation, the left inferior turbinate and sidewall demonstrated a 4 cm unremarkable turbinate with attached friable soft tissue. Microscopic examination revealed sections of carcinoma with various architectural patterns comprised of foci with adenoid cystic carcinoma-like morphology, basaloid squamous cell carcinoma and adenocarcinoma. The tumor showed positive immunostaining for P40, but focal reactivity to S100 and rare scattered reactivity with CD117. INI-1 immunostain was retained in tumor cells. P16 immunostain was strong and diffuse and high-risk cocktail HPV RNA ISH was positive. However, MYB FISH testing was equivocal.

Morphologic and immunophenotypic findings were consistent with HPV-related multiphenotypic sinonasal carcinoma. The tumor involved the olfactory nerve fibers requiring a skull base resection and showed extension into the dura mater.

Results (if a Case Study enter NA)

NA

Conclusion

HPV related multiphenotypic sinonasal carcinoma is a recently described entity that can pose significant diagnostic challenge. It typically has an indolent clinical course with potential for late recurrences. This case study highlights the potential aggressive nature of this type of sinonasal carcinoma, despite association with high-risk HPV, and use of ancillary testing in aiding diagnosis.
Ossifying Fibroma; A Case report and review of literature
Authors: Luceno S , Lazim A , Kuklani R , Jhala N
Published: October 2021

Introduction/Objective

Ossifying fibroma (OF) is a rare, benign, true neoplasm with growth potential, with the mandible involved more often than the maxilla. There is female predilection in the third and fourth decades of life, with the most common site being the premolar and molar area of the mandible. These lesions are characterized by the replacement of endogenous bone with a highly cellular fibrous neoplasm containing varied amounts of bony trabeculae, and/or cementum-like spherules. Radiographically they present as well defined, unilocular, most are mixed lucent, opaque, some with sclerotic border and root divergence may be seen. Histologically most of the lesions are not encapsulated but are well demarcated from the adjacent bone. Thus radiographic, surgical and histological findings help distinguish OF from other benign fibro-osseous lesions such as fibrous dysplasia and cemento-osseous dysplasia. Distinguishing an accurate diagnosis between the above fibro-osseous neoplasms becomes significant as prognosis and treatment differ.

Methods/Case Report

Herein we report a case of a 59-year-old female who presented with a symptomatic mandibular lesion that radiographically illustrated a midline well-circumscribed expansile mass of the mandibular symphysis with a sclerotic margin and ground-glass internal matrix measuring 3.1 x 4.9 x 3.9 cm, favored to represent pagetoid changes more likely than neoplastic process. Microscopic examination revealed numerous variably sized islands of ossification within a hypercellular fibrous stroma. Based on the clinical, radiographic and histologic findings, a diagnosis of benign fibro-osseous lesion, favor ossifying fibroma was given.

Results (if a Case Study enter NA)

NA

Conclusion

Microscopic examination, as in our case, can resemble a variety of benign fibro-osseous neoplasms. Radiographic and clinical correlation, along with microscopic evaluation, help solidify the accurate diagnosis.
Amyloid deposition in oral cavity and larynx, a single institute experience
Authors: Abu-Salah A K , Hou T
Published: October 2021

Introduction/Objective

Amyloidosis is characterized by extracellular accumulation of insoluble amyloid fibril. Amyloid deposition in the head and neck area is rare.

Methods/Case Report

In this study, we reviewed 34 specimens from 26 patients including: 18 specimens from the larynx and/or pharynx (13 patients) and 16 specimens from the oral cavity (13 patients). The clinical presentation, related laboratory results, and pathologic finding were reviewed.

Results (if a Case Study enter NA)

Within the 18 laryngeal specimens were: 10 glottic, 4 supraglottic, 3 nasopharyngeal or pharyngeal wall, and 1 subglottic. Of the 16 cases from oral cavity there were 9 lingual, 3 labial, 2 palatine, 1 tonsillar, and 1 alveolar ridge. Ten out of 13 patients with laryngeal amyloid deposition had protein electrophoresis performed and only 3 of the patients had monoclonal light chain detected. Among these three patients, one had multiple myeloma, one had lymphoplasmacytic lymphoma and one had the diagnosis of plasma cell dyscrasia. Interestingly, in the patients with oral cavity amyloidosis, 10 out of 11 patients tested had abnormal findings. Six of the patients had monoclonal light chain, two demonstrated monoclonal peak of IgG kappa, one with IgG lambda and one with IgA lambda. Among these 10 patients, 6 of them had biopsy-proved or history of multiple myeloma, one patient had marginal zone lymphoma, two patients had systematic amyloidosis. Only one patient did not have any malignancy or systematic involvement identified.

Conclusion

In our small cohort, the most common location of amyloid deposition in the larynx is glottis. When it involves the oral cavity, tongue is the most common location. Compared to the larynx, amyloid deposition in the oral cavity tends to be associated with hematopoietic malignancy or systematic involvement, although this finding needs to be confirmed by a larger scale of study.
Clinical, Pathological, and Genomic profiles of Salivary Warthin tumor-like Mucoepidermoid Carcinoma
Authors: Li B
Published: October 2021

Introduction/Objective

Warthin tumor-like mucoepidermoid carcinoma(WTL- MEC) is one of the subvariant of mucoepidermoid carcinoma. It mimics the histological features of metaplastic Warthin tumors (mWTs). To investigate the clinicopathological, molecular features, and bio-behaviors of WTL-MEC, we retrospected a cohort of 29 WTL- MEC patients.

Methods/Case Report

The clinicopathological and microscopic data were collected. Dual-color FISH analysis was performed on paraffin-embedded sections of 29 WTL- MEC patients and 16 mWTs patients using a MAML2 break- apart probe. Whole-exome sequencing and whole transcription sequencing were performed on 3 WTL-MEC and 3 typical mucoepidermoid carcinomas (TMEC) patients. Genetic data were bioinformatically analyzed by software MuTect (v1.7), PINDEL (v0.2.5), SnpEff (v3.0), and etc.

Results (if a Case Study enter NA)

The cohort of WTL-MEC included 10 male and 19 female patients with a median age of 42.3 years (range, 8 to 68 years). Microscopically, the WTL-MEC lesion consisted of multi-cysts with variant shapes and sizes. The cystic spaces were lined by bi-layered and multilayered oncocytic cells. A transition zone between the bi-layered oncocytic epithelium to the multilayered oncocytic epithelium was observed in WTL-MEC. The cords of epidermoid cells and mucous cells could be found. The germinal center, extensive hyalinization, and mucus extravasation were observed. MAML2 rearrangement was identified in 29 (100%) WTL-MEC. No rearrangement was observed in mWTs by FISH. MET was the most commonly mutated gene in TMEC, and PRDM11 was the most commonly mutated gene in WTL-MEC. Twenty-nine patients were alive without recurrent at the end of the follow-up periods(5–128M). One Patient died due to the metastasis to the lung.

Conclusion

compared with mWTs, WTL- MEC usually presented in the young, non-smoking female. The histological feature of WTL-MEC depended mainly on the transition zone of the bi-layered oncocytic epithelium and the multilayered oncocytic epithelium. And MAML2 status can confirm the diagnosis. CRTC1-MAML2 and PRDM11 mutations appear to be the main driver event of WTL-MEC. Prognosis was usually favorable, but recurrence or metastasis may rarely occur.
Choroidal Ganglioneuroma: An Unexpected Diagnosis
Authors: Srivastava A C , Shenoy V
Published: October 2021

Introduction/Objective

Ganglioneuromas are rare, fully differentiated, benign neuronal tumors arising from neural crest cells anywhere along the sympathetic nervous system. However, they can undergo dedifferentiation and give rise to malignant neuroblastoma and ganglioneuroblastoma. Choroidal ganglioneuroma is exceptionally rare and usually an unexpected histopathological diagnosis. We report a pediatric patient with neurofibromatosis type 1, who underwent evisceration of a painful blind eye with subsequent histopathological examination confirming a diagnosis of choroidal ganglioneuroma.

Methods/Case Report

A 15-year-old boy with a medical history of neurofibromatosis type 1, plexiform neurofibroma of the right face and right orbit, right optic pathway glioma, and right painful blind eye secondary to congenital glaucoma underwent evisceration of the right eye with placement of orbital implant. On histopathological examination a choroidal lesion was identified adjacent to the pigmented retinal epithelium. This lesion showed proliferation of spindle-shaped cells admixed with clusters of ganglion cells. There were no signs of atypia, necrosis, or pleomorphism. The ganglion cells showed abundant cytoplasm with large vesicular nucleus and prominent nucleoli. The spindle cells were positive for S-100 immunostain and the ganglion cells were positive for synaptophysin. These findings were diagnostic of choroidal ganglioneuroma.

Results (if a Case Study enter NA)

NA

Conclusion

Choroidal ganglioneuroma, in addition to being a clinically unsuspected diagnosis, is exceptionally rare in patients with neurofibromatosis type 1. Medical literature on choroidal ganglioneuroma is sparse, however, it is reported that these benign tumors can locally recur with malignant transformation, and therefore close follow-up is advised.
Sclerosing Epithelioid Fibrosarcoma; A Case report and review of literature
Authors: Lazim A , Kuklani R
Published: October 2021

Introduction/Objective

Sclerosing Epithelioid Fibrosarcoma (SEF) is an unusual, rare clinically aggressive form of soft tissue sarcoma. It is characterized by a slow evolution, with local recurrences and late metastases that are mainly pulmonary and pleural in about 80% of cases. SEF has distinctive morphology and occurs most commonly in deep soft tissue of adult extremities. Lesions involving the head and neck region are uncommon and rare intraosseously in oral cavity.

Methods/Case Report

Herein we report a case of a 52-year-old male who presented with a symptomatic radiolucent lesion at apex #18, with clinical impression of periapical granuloma. The patient did present with pain associated with lower left quadrant #18 area, for several days to pressure and hot temperature. A periapical radiograph revealed a large ill-defined radiolucent area at apex of resorbing roots #18. The patient’s medical history was significant with history of cancer diagnosis of sclerosing epithelioid fibrosarcoma of skull treated by chemotherapy and radiation. Microscopic examination of the specimen revealed a multi-fragmented specimen consisting of numerous fragments and islands of highly cellular, basophilic bone and osteoid surrounded by loose fibrous stroma which contains large lobules and islands of round to oval cells, with distinct cell borders and faintly granular eosinophilic cytoplasm. Separate islands of tumor cells surround large islands of necrosis with the background stroma appearing as hyalinized and eosinophilic with the basaloid cells demonstrating smudge and crush artifact. Peripherally, spindled cells are noted and faint areas of eosinophilic osteoid within the eosinophilic background stroma. Lesional cells are MUC4 strong, diffusely positive and strongly positive for INI-1. CD43, CD20, PAX-5, CD3, Desmin, CD34, S100, CD99, AE1/3 and SMA are interpreted to be negative. A diagnosis of metastatic sclerosing epithelioid fibrosarcoma was made, with correlation with the primary lesion was recommended.

Results (if a Case Study enter NA)

N/A

Conclusion

The clinical and histological findings of our case correlate with the diagnostic criteria of sclerosing epithelioid fibrosarcoma. Despite its microscopic features can create diagnostic difficulties, in that SEF can resemble a variety of benign and pseudosarcomatous as well as malignant lesions, our case diagnosis was confirmed by morphology and MUC4 diffuse strong reactivity and negativity for other markers.