bluuebunny/crossref_metadata_2025 huggingface dataset:
Endoscopic Ultrasound-Guided Fine Needle Aspiration of Solid Pseudopapillary Neoplasm of the Pancreas in a Male Patient: A Rare Report
Authors: Dai M , Aveni J , Abdulsattar J , Lairmore T
Published: November 2022

Introduction/Objective

Solid pseudopapillary neoplasm (SPN) of the pancreas is a rare pancreatic tumor with low malignant potential composed of poorly cohesive epithelial cells forming solid and pseudopapillary structures. It develops almost exclusively (90%) in young females (mean age: 28 years, range: 7-79 years), while it rarely develops in men (mean age: 35 years, range: 25-72 years).

Methods/Case Report

Herein we report an unusual presentation of SPN in a 59-year-old male who presented with severe nausea, vomiting, right upper quadrant pain, and weight loss. Computed tomography imaging revealed a large pancreatic head/uncinate process mass. Endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) biopsies showed abundant monomorphic cuboidal tumor cells arranged in loosely cohesive groups and singly dispersed cells. A few tumor cells are arranged in multiple layers around vascular structures expanded by metachromatic hyaline material. The tumor cells have thin cytoplasm, indistinct cell borders, round to oval nuclei, finely dispersed chromatin, and indistinct nucleoli. No mitosis, tumor necrosis, or other high-grade features are identified. Immunohistochemical stains are performed on cell block material and the tumor cells are positive for beta-catenin (nuclear), cyclin D1, vimentin, CD10, synaptophysin, and CD56, and negative for DOG-1, tryptase, and AE1/AE3. Ki-67 proliferative index is less than 2% in tumor cells. The cytomorphologic features and immunoreactivity are diagnostic of solid pseudopapillary neoplasm. We diagnosed SPN preoperatively by EUS-FNA using cytopathologic and immunochemical characteristics, which are very helpful to differentiate SPN from acinar cell carcinoma, neuroendocrine tumor, pancreatoblastoma, or other pancreatic tumors.

Results (if a Case Study enter NA)

NA

Conclusion

EUS-FNA can be used as a gold standard method to characterize and diagnose SPN preoperatively and help to guide clinical management.
Sarcomatoid Eccrine Porocarcinoma in a Patient with Urothelial Carcinoma
Authors: Chiu R , Wu M , Peng S
Published: November 2022

Introduction/Objective

Sarcomatoid porocarcinoma of skin is an exceedingly rare and diagnostically challenging malignancy of the sweat gland. In this report, we describe a rare case of a sarcomatoid eccrine porocarcinoma initially diagnosed to be a squamous cell carcinoma (SCC) in a patient with metastatic urothelial carcinoma (UC).

Methods/Case Report

Our patient is a 60 year old male with stage IV, poorly differentiated UC status post TURBT with residual tumor, and a 4 x 3 x 1 cm, polypoid, ulcerating skin nodule on his right cheek presumptively diagnosed to be an SCC on biopsy at an outside hospital. Given the concern that this cutaneous lesion may be a metastatic UC with squamous differentiation, the skin nodule was re-biopsied at our hospital. On histology, the lesion consisted of sheets of squamoid, polygonal cells in the dermis with pleomorphic nuclei showing irregular contours, prominent nucleoli, coarse chromatin, and frequent mitoses. The tumor was focally connected to the epidermis, which established it as a primary skin neoplasm and not a metastatic lesion. The tumor cells stained diffusely positive for vimentin, AE1/AE3, CK5/6, HMW CK, CK7, p63, and p16, negative for CK20, GATA-3, BerEP4, and Sox10, and showed high Ki67 proliferation index. Within the tumor sheets were poorly formed, focal ductal elements that stained positive for CAM5.2, EMA, CEA, and CK19, and negative for p63. The tumor showed comedo necrosis, epidermal ulceration, and no keratinization. The tumor was diagnosed to be a porocarcinoma given its positive staining for CK7 and p16, presence of focal ductal elements, and epidermal connection, with sarcomatoid features indicated by strong vimentin expression.

Results (if a Case Study enter NA)

NA.

Conclusion

In this report, we described an exceedingly rare, diagnostically challenging case of a sarcomatoid porocarcinoma initially suspected to be a cutaneous SCC or metastatic UC with squamous differentiation. Although the tumor cells morphologically resembled SCC, its positive staining for CK7 and p16, presence of ductal elements, and lack of keratinization, favored a diagnosis of porocarcinoma rather than cutaneous SCC. Its focal connection to the epidermis and lack of GATA-3 expression favored a primary skin neoplasm rather than a metastatic UC. Its sarcomatoid nature was indicated by strong vimentin expression. Sarcomatoid porocarcinoma is diagnostically challenging given its rarity and potential to mimic other cutaneous malignancies such as SCC.
Estrogen Receptor Expression Pattern in Papillary Thyroid Cancers: A 23 Years Retrospective Multi-Centre Study in Jos Metropolis, North-Central, Nigeria
Authors: Richard S K , Emmanuel I , Richard B V , Nwadiokwu J I
Published: November 2022

Introduction/Objective

Papillary Thyroid cancers (PTC) are the commonest malignancy of this organ and seen more often in females. Estrogen Receptor (ER) is important in the pathogenesis of the disease and impacts on the prognosis. The aim is to establish ER status of PTC seen at the Jos University Teaching Hospital and other health institutions in Jos Metropolis.

Methods/Case Report

This was a hospital based, retrospective multicenter study. The biodata of histologically diagnosed PTC were obtained from surgical pathology cancer registries and archived histology request forms between 1st January 1998 and 31st December, 2020. Archival slides and fresh sections from tissue blocks were reviewed, classified and subjected to immunohistochemistry (polymer technique). They were scored (using Allred scoring system) and data analyzed using SPSS-20.

Results (if a Case Study enter NA)

A total of 53 (56%) cases of histologically diagnosed PTC out of 95 cases of thyroid cancers were included in the study. The mean, mode, median and age range were 44.7±15.4 years, 45 years, 43 years and 13-80 years respectively. Majority of cases were females (81.1%), this was replicated across all age groups. Out of the total number of PTC cases recorded, 36 (67.9%) were classical variant while the remaining 17 (32.1%) were follicular variants. Nine cases (17%) were positive for ER while 44 (83%) were negative. Out of the positive cases, 7 (77.8%) were females with 2 (22.2%) males. The total scores assigned to positive cases were 3 (66.7%) and 4 (33.3%) and were predominant in females in the 4th decade.

Conclusion

Majority of PTC were seen in females and were negative for ER. This suggest that very few of our patients are likely to benefit from selective estrogen receptor targeted therapy and therefore Surgery, Chemotherapy and Radioiodine therapy remain the main stay of treatment for most cases in our locality.
Gastric Plexiform Fibromyxoma: A Rare Clinical Entity
Authors: Altameemi H , Asghar I A
Published: November 2022

Introduction/Objective

Plexiform fibromyoma (PF) tumors are benign mesenchymal tumor that arises in the antrum and pyloric region of the stomach. PF are recently added to the WHO classification of tumors in 2010. To the best of our knowledge; there are less than 100 cases have been reported.

Methods/Case Report

We present a case of 41-year-old Caucasian female who presented for EGD in preparation for her bariatric surgery in which she was found to have an incidental large subepithelial mass lesion with small surface ulceration in the proximal stomach. Fine needle biopsy was performed showing bland spindle cell proliferation with myxoid background. Computed tomography (CT) revealed an enhancing, highly vascular exophytic submucosal mass in the anterior wall of the gastric antrum, indicating a GIST. Resection of the mass showed a 6.5 cm bulging mass covered by mucosa with tan white focally cystic cut surfaces. Histologically, the tumor is composed multinodular plexiform growth pattern the presence of spindle cells in the myxoid or fibromyxoid stroma rich in arborizing thin- walled vessels. The spindle tumor cells contained round or ovoid nuclei and scanty eosinophilic cytoplasm. Some cells exhibited perinuclear cytoplasmic haloes. Lymphocytes and mast cells were observed in the stroma. There was no significant cytological atypia or necrosis in the tumor cells, and mitotic activity was negligible. Immunohistochemical stains showed the spindle cells to be strongly positive for SMA, desmin and vimentin while negative for CK AE1/AE3, CK CAM 5.2, DOG1, S100, CD45, CD117. Meanwhile Ki-67 shows a proliferation index of less than 2%. The overall morphological and immunohistochemical findings are supportive of the above diagnosis of plexiform fibromyxoma. The main differential diagnosis is GIST, which is the main gastric mesenchymal tumor, also a lot of PF were misdiagnosed as GIST. Genetic testing was described in some PF that showed metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) and glioma-associated oncogene homolog 1 (GLI1) gene translocation.

Results (if a Case Study enter NA)

NA.

Conclusion

Plexiform fibromyoma tumors seem to follow a benign course after complete excision by distal gastrectomy. To date no lymph node or distant metastasis is reported.
Elevated Serum IgG4 and Eosinophils: A Case of Indeterminate Biliary Stricture
Authors: Mazur I , Jhala N C
Published: November 2022

Introduction/Objective

Diagnosis of indeterminate biliary stricture is challenging and tissue diagnosis is critical to provide adequate management. We report an unusual case of biliary stricture mimicking extrahepatic cholangiocarcinoma on ERCP.

Methods/Case Report

A 44-year-old male presented with unintentional 30 lb weight loss, scleral icterus, and dark urine for the past 3 weeks. At admission, elevated liver enzymes and bilirubin 12.3 mg/dl were noted. Imaging studies showed dilated intra- and extra-hepatic biliary ducts with abrupt transition and focal wall thickening concerning for cholangiocarcinoma. ERCP revealed frond-like mucosa and neovascularization. Additional lab investigations showed elevated CEA, presence of anti-nuclear and smooth muscle antibodies, and an elevated IgG4 (224.9 mg/dL) raising the differential diagnosis of primary sclerosing cholangitis (SC) and IgG4 sclerosing cholangitis (IgG4-SC), a manifestation of IgG4 related disease (IgG4-RD). An exploratory laparotomy with excision of bile duct stricture, cholecystectomy, and portal lymphadenectomy was performed. Histopathology showed thickened and fibrotic bile duct wall with dense inflammatory infiltrate rich in eosinophils, consistent with eosinophilic cholangitis (EC). There was no evidence of plasma cell infiltration. The gallbladder also exhibited similar changes. Symptoms suggestive of other eosinophilic gastrointestinal disorders were not present. The subsequent review showed persistent eosinophilia (absolute count 1.8 k/mm3). Stool examination was negative for ova/parasite.

Results (if a Case Study enter NA)

NA.

Conclusion

This report highlights that elevated serum IgG4 levels may be a potential overlap in the pathogenesis of EC and IgG4-RD. Eosinophilic cholangitis, a rare benign entity and a mimicker of cholangiocarcinoma, should be included in the differential diagnosis of elevated serum IgG4.
Digital Image Analyses in Quantitative Assessment of Key Morphologic Features of Esophageal Squamous Dysplasia and Reactive Squamous Epithelium
Authors: Kim J S , Furth E E , Haye K K , Fortuna D
Published: November 2022

Introduction/Objective

Distinguishing esophageal squamous dysplasia (ESD) from reactive squamous epithelium (RSE) is a diagnostic challenge. This distinction is subjective and based upon interpretation and integration of histologic features. How the features of nuclear/cytoplasmic ratio, nuclear size, shape, and contours are used to make a diagnosis is not entirely known. The goal of our study is to quantitatively determine the performance of key histologic features using image analysis (IA) to distinguish ESD and RSE.

Methods/Case Report

The study included 50 cases of ESD (2016-19) and 50 cases of RSE (2019). One representative image (tif format) from each H&E slide was obtained at 10x via digital microscope camera. Open source software (QuPath) was utilized. Wilcoxon rank-sum tests were used to evaluate differences in measurements between ESD and RSE.

Results (if a Case Study enter NA)

In nuclear measurements, ESD had greater area (41.4μm2 vs 37.4μm2; p<0.001), greater nuclear perimeter (24.9μm vs 23.8μm; p<0.001), less circularity (0.80 vs 0.81; p=0.005), and was more elliptical (eccentricity: 0.74 vs 0.72; p<0.001) than RSE. ESD had lower nucleus/cell area ratio than RSE (0.32 vs 0.33; p=0.010). ESD was further subdivided into low grade dysplasia (LGD; n=18) and high grade dysplasia (HGD; n=37) groups and analyzed. LGD and HGD showed statistically significant differences from RSE in nuclear area (p=0.002;<0.001), perimeter (p=0.006;<0.001), and eccentricity (p=0.005;<0.001). While LGD and RSE did not show significant difference in nuclear circularity (contour) or nuclear/cell area ratio, this difference was demonstrated between HGD and RSE (p=0.007 and p=0.003).

Conclusion

Through quantitative analysis of cytologic features, our study supports the feature extraction that is performed on routine H&E is when distinguishing ESD and RSE. However, quantitative analysis offers an objective approach in this diagnostic challenge. We continue to investigate the utility of IA in diagnosis of ESD for progressive advancement in practice and diagnosis for patient care.
Unique Epidemiologic Features of Esophageal Squamous Dysplasia: A Retrospective Single Institution Study
Authors: Kim J S , Furth E E , Haye K K , Fortuna D
Published: November 2022

Introduction/Objective

Squamous cell carcinoma (SCC) is the most common esophageal primary tumor worldwide. On the contrary, SCC and its precursor lesion, esophageal squamous dysplasia (ESD), are uncommon in western countries and North America, with smoking and heavy alcohol (EtOH) use being the significant risk factors. Given the influence of geography on the prevalence of SCC, we hypothesize that there may be unique risk factors in the Northeastern United States population compared to worldwide factors. Our retrospective study focuses on ESD, the premalignant condition, examining known risk factors at our institution.

Methods/Case Report

Patients diagnosed/followed with ESD during 2006-19 were identified from pathology database. Among patients who had an initial esophagogastroduodenoscopy (EGD) finding suspicious for SCC and confirmed by histology were excluded. Demographics, social and medical history (hx), EGD reports, and pathology reports were reviewed. We evaluated subgroups of risk factors.

Results (if a Case Study enter NA)

Study included 37 patients. Mean age at initial EGD biopsy was 66.8 years (range: 42-94 years); 56.8% (21/37) were female. By endoscopy, the most common finding was erythema followed by friability and nodularity. 45.9% had at least one recurrent ESD in subsequent biopsies, and 35.1% were eventually diagnosed with SCC. 83.3% showed high grade ESD on initial biopsy. Smoking [current, former, or never (NS)] and EtOH hx [heavy, light/moderate, or no] showed no significant association (p=0.38). Majority were either former or NS (72.9%); 34.3% were NS. In NS, 91.7% (11/12) were female, 50.0% did not consume EtOH, and 50.0% had concurrent Barrett esophagus. 33.3% later developed SCC. Also in NS, 50% had a personal hx of cancer and reported no family hx of GI/esophageal cancer.

Conclusion

In our institution, while some data is consistent with population data (i.e. EGD distribution, appearance), our study cohort is mostly women and within it is a unique subgroup lacking classical strong risk factors. This subset of NS is mostly women with no to moderate alcohol intake and lacking a strong family hx of GI/esophageal cancer. Our data emphasizes that not all predisposing factors have been elucidated in ESD. Our findings may offer a unique opportunity to further the understanding of SCC pathogenesis.
Colonic High-grade Tubular Adenoma Associated withSchistosoma sp.
Authors: Al-Refai R , Morrar D , Sham S , Hosseini H , Bendari A , Jormark S , Otero Espinal D , Opher E , Battah H
Published: November 2022

Introduction/Objective

Although not endemic in the United States, Schistosoma infection can be encountered in clinical samples from patients that have been in endemic regions and can present a challenge to the pathologist. Usually, intestinal schistosomiasis present with a granulomatous inflammatory reaction surrounding the eggs. Schistosome eggs can be found throughout the lamina propria, mucosa, and or submucosa of the intestinal wall.

Methods/Case Report

We present a 79-year-old Asian male, with history of chronic constipation. He was previously diagnosed with schistosomiasis 11 years ago. He received antischistosomal treatment, however, no further tests were done to confirm parasite eradication. Initial endoscopic examination of the colorectum demonstrated two polyps: the first was 2 cm in diameter, located 10 cm proximal from the anal verge, while the second was 2cm in diameter, located 20cm proximal to the anal verge. A biopsy of the first polyp showed a tubular adenoma while the second polyp was hyperplastic showing few calcified schistosome eggs in the submuscosa. Eight days later, a second endoscopy was performed to resect the entirety of the first polyp. Microscopy examination showed sessile tubular adenoma with high grade dysplasia. In addition, there was abundant calcified 50-75 micrometer ova of Schistosoma sp., occupying the submucosa beneath the adenoma without associated inflammation.

Results (if a Case Study enter NA)

NA.

Conclusion

To our knowledge, there are a few case reports describing colonic Schistosoma eggs without inflammation in the presence of tubular adenoma. Our case report adds to the sparse literature that can aid in identifying associations in the future.
CVID Colopathy: An Important Clinical Diagnosis with a Broad Differential
Authors: Ajmal I , Prakash V , Varshney N , Glover S
Published: November 2022

Introduction/Objective

Colonic injury with increased epithelial cell apoptosis can be sometimes seen in colonic biopsies; raising a broad differential diagnosis. The possible etiologies include graft-versus-host disease and, drug- induced injury (including but not limited to mycophenolate mofetil, checkpoint inhibitors, antimetabolites, and tumor necrosis alpha inhibitors), infections (particularly cytomegalovirus and adenovirus), and immune disorders (common variable immune deficiency and autoimmune enterocolopathy). Hence, the umbrella term “apoptotic colopathy” was coined as a broad-spectrum diagnosis for further workup.

Methods/Case Report

Herein, we report a case of a 36-year-old Caucasian male who presented for follow-up of ulcerative pancolitis with additional history of decompensated liver cirrhosis. The patient has a past history of Common variable immunodeficiency (CVID) with CVID enteropathy and CMV gastritis. The patient’s long-term medications included Entyvio, IVIG, and Valcyte. Surveillance colonoscopy was performed and revealed portal colopathy, otherwise was unremarkable. Both right and left colon were biopsied. Microscopic examination showed marked epithelial cell apoptosis with no granulomas, dysplasia, or malignancy. No history of mycophenolate or stem cell transplant was noted. No viral cytopathic effect was seen, supported by CMV stain. Apoptotic colopathy with the possible differential diagnosis was rendered as the final diagnosis; mentioning the given clinical history of the patient for CVID, the histological picture is compatible with CVID colopathy.

Results (if a Case Study enter NA)

NA.

Conclusion

It is pertinent to be aware of all above mentioned possible etiologies in such cases. Correlation with detailed clinical history, medications, laboratory findings, and other histopathological findings (including judicial use of immunohistostains) is warranted to reach a definitive diagnosis that would drive patient management accordingly and help provide optimal patient care.
A Rare Case of Ectopic Liver Presenting as an Intraperitoneal Mass: A Case Report and a Concise Case Review
Authors: Satia S , Shepherd W K , Varshney N , Desai A , Orr W
Published: November 2022

Introduction/Objective

Ectopic liver is a rare developmental abnormality, in which liver tissue is localized outside the normal liver and has no connection to the native liver. The presence of ectopic liver tissue has been reported most commonly in the gall bladder. Intrathoracic cavity, kidney, abdominal wall, and esophagus are the other sites where it has been identified. But its presence in the intraperitoneal has rarely been reported previously. We report such a case in a young female.

Methods/Case Report

A 27-year-old female presented with shortness of breath and was diagnosed to have pulmonary embolism. On imaging, she incidentally was found to have a well circumscribed 4.4 x 4.8 cm enhancing mass in the left sub- diaphragmatic region wedged between splenic hilum and greater curvature of the stomach. Based on imaging diagnosis of accessory spleen was considered. She underwent a nuclear medicine scan that was not consistent with the accessory spleen. Esophagogastroduodenoscopy identified a mass that showed abutment of the mucosa of stomach. Cytology showed rare polygonal benign cells which were non-diagnostic. A robotic laparoscopic-assisted abdominal mass excision was performed, identifying a mass abutting, but not adherent, to the spleen, pancreas and stomach. Histopathological examination revealed benign liver tissue with several portal triads. Immunohistochemical staining showed positivity for Hepar 1 and arginase; reticulin stain; together supporting it to be a benign hepatic lesion. This was finally diagnosed as benign ectopic liver

Results (if a Case Study enter NA)

NA.

Conclusion

Ectopic liver is a rare condition, with an incidence between 0.24%-0.47%. It can be associated with other congenital anomalies but most crucial implication, is the development of malignancy. It is sometimes, difficult to identify ectopic liver on imaging modalities. It is important to be aware of such rare findings for optimal patient care.
Rare Case of Epitheloid Angiosarcoma Posing a Diagnostic Challenge in Duodenal Biopsy
Authors: Htoo A , George R S , Lightle A
Published: November 2022

Introduction/Objective

Angiosarcoma (AS) is an aggressive tumor usually arising in the skin and soft tissue. We report a unique case of AS presenting as multiple nodules in duodenum with epithelioid histomorphology without prior diagnosis.

Methods/Case Report

An 80-year-old man presented with dyspnea on exertion, fatigue and severe anemia. Initial work up showed bilateral pleural effusions; a wedge biopsy of the left lung was done, but results were inconclusive. The patient required repeated blood transfusions over the next three months due to persistent anemia, and gastroenterology was consulted to further investigate the cause of anemia. Occult blood was found on rectal examination. Endoscopy revealed multiple mucosal nodules and polyps in the duodenum. Biopsy showed sheets of markedly atypical, lamina propria infiltrating large epithelioid cells with vesicular nuclei, prominent nucleoli, and eosinophilic cytoplasm undermining an adenoma. The atypical cells showed strong positivity for vimentin, CD31 and ERG, patchy positivity for MNF 116; and negative for HHV-8, S-100, CK20, and various other markers. Ki-67 index was approximately 30%. The diagnosis of duodenal angiosarcoma was made and referred for expert consultation, who concurred with the diagnosis. The patient’s previous lung wedge biopsy was reviewed, and determined to represent small foci of metastatic epithelioid angiosarcoma. The patient received radiotherapy but remained dependent on frequent transfusions, and died 7 weeks after the duodenal biopsy.

Results (if a Case Study enter NA)

NA.

Conclusion

Angiosarcoma occurring in the GI tract is rare and has a poor prognosis. In our case, the patient presented with an occult GI bleed and was found to have metastatic disease on presentation. AS presenting with epithelioid morphology in the GI tract can cause significant diagnostic challenges; therefore, pathologist should be aware and may benefit from including vascular immunohistochemical markers in work up to rule out this clinically aggressive vascular malignancy.
Planar-Type Gastrointestinal Stromal Tumor in the Sigmoid Colon Presenting as Perforation and Peritonitis
Authors: George R S , Arslan M E , Lee H
Published: November 2022

Introduction/Objective

Gastrointestinal Stromal Tumor (GIST) is the most common mesenchymal neoplasm of the stomach, and it also can involve the small bowel, rectum, and esophagus. It can be incidentally found on imaging or can present with nonspecific GI symptoms and/or bleeding. Non-rectal colonic GISTs are extremely rare. A few cases of small bowel/colonic GISTs presenting as a non-discrete mass and forming a diverticulum with/without perforation have been documented in the literature and referred to as interstitial cells of Cajal hyperplasia/planar-type GIST. We report another case of non-rectal colonic planar-type GIST presenting as a diverticular perforation and peritonitis and the frequency of such presentation at our institution.

Methods/Case Report

A 43-year-old female presented with fever and abdominal pain. CT scan showed pneumoperitoneum and the patient was taken for surgery which revealed a sigmoid colon perforation. Gross examination of the sigmoidectomy specimen revealed a perforated diverticulum (2.5 cm). Sectioning of the diverticular pouch did not reveal a grossly obvious mass. Histologic examination revealed a band-like proliferation of bland spindle cells along the entire length of the diverticulum partially replacing the muscularis propria. No mitoses were identified. On immunohistochemistry, the cells were diffusely positive for DOG-1, CD34, and negative for MNF116, S100, and desmin; thus, a diagnosis of a planar-type GIST was made. In our institution, a total of 143 GISTs were resected between Jan 2000 and May 2022. The most common site was the stomach (73%), and the most common presentation was anemia and/or GI bleeding (27%). The index case is the only non-rectal colonic GIST (0.7%) in our cohort that also presented with perforation (0.7%).

Results (if a Case Study enter NA)

NA.

Conclusion

Non-rectal colonic GISTs are extremely rare (0.7% in our cohort) and may not present as a grossly apparent mass. Therefore, pathologists should be cognizant of planar-type GIST while evaluating colonic diverticular perforations.
Undifferentiated Melanoma: A Rare Phenomenon and a Challenging Diagnosis
Authors: Abdo M E , Tupper N , Hamza A
Published: November 2022

Introduction/Objective

Undifferentiated melanoma is defined as a primary or metastatic melanoma lacking histologic and immunophenotypic features of melanoma. Dedifferentiated melanoma shows transition between undifferentiated and conventional melanoma components. Dedifferentiation and transdifferentiation (implying dedifferentiation with heterologous elements) in melanoma are exceedingly rare and occur mostly in metastatic deposits. The purpose of this report is to describe a case of undifferentiated melanoma that proved to be a diagnostic challenge and to highlight the importance of the multimodality approach and utilization of advanced diagnostic tools in reaching an accurate diagnosis.

Methods/Case Report

Methods: A 43-year-old white male who was diagnosed with metastatic melanoma on the right axillary biopsy at a local hospital presented to our institution with a rapidly enlarging 30 cm peritoneal mass. He underwent debulking surgery to lower his tumor burden. On pathologic evaluation, the tumor showed a heterogeneous appearance ranging from highly cellular fascicles of spindle cells to sheets of primitive round cells and epithelioid cells with abundant eosinophilic cytoplasm. One metastatic focus showed heterologous cartilaginous differentiation. This morphologic appearance elicited the differential diagnosis of metastatic melanoma, primitive neuroectodermal tumor, synovial sarcoma, and metastatic germ cell tumor with somatic transformation. Immunochemical staining showed the tumor cells to be positive for SALL4, CD99 (patchy), and TLE1 (patchy) and negative for pan-cytokeratin, S100, SOX- 10, HMB-45, desmin, myogenin, DOG1, CD 117, CDX2, TTF-1, PAX-8, CK7, CK20, chromogranin, CD30, and OCT4. Fluorescence in situ hybridization for EWSR1, SS18(SYT), and isochromosome 12p were negative. BRAF gene mutation analysis detected p.V600E / p.V600D. Subsequently, a diagnosis of undifferentiated melanoma was rendered after expert consultation. Unfortunately, the patient passed away 1 month after surgery.

Results (if a Case Study enter NA)

NA.

Conclusion

Diagnosis of undifferentiated melanoma by the conventional H&E and immunohistochemical profile is extremely challenging. Multimodality approach and utilization of advanced diagnostic tools such as molecular studies are helpful in this regard.
Unifocal Peritoneal Malignant Mesothelioma as Initial Presentation of Lynch Syndrome: A Case Report and Brief Review
Authors: Waters R , Taggart M , Malpica A , Mansfield P , Raghav K
Published: November 2022

Introduction/Objective

Peritoneal malignant mesothelioma (pMM) has scarcely been reported in the context of Lynch Syndrome (LS). No cases have directly led to a diagnosis of LS. We report an unusual case of pMM presenting as a localized mass, leading to the diagnosis of LS.

Methods/Case Report

A 55 year old female with no prior oncologic history presented with a solitary epigastric mass. Her mother and maternal relatives had colonic, gastric and ovarian cancers. Imaging studies revealed a perigastric mass abutting the left liver. The resected 9.8 cm mass showed a variegated histology with tubulopapillary formations and solid sheets. The neoplastic cells also showed variable cytologic features including anisocytosis, pleomorphic nuclei, multinucleation, prominent nucleoli, intranuclear pseudoinclusions, and rhabdoid features. A dense intratumoral and peritumoral lymphoplasmacytic infiltrate was present. Epithelioid pMM was confirmed with expression of cytokeratin 5/6, calretinin, WT-1, and thrombomodulin and loss of MOC31. Abnormal loss of MSH2 and MSH6 was seen (retained expression MLH1/PMS2 expression), suggesting high-level microsatellite instability. A germline pathogenic variant of MSH2 was identified.

Results (if a Case Study enter NA)

NA.

Conclusion

We report the first case of LS presenting as an atypical (unifocal) pMM showing variegated histology and lymphocytic infiltrate. Microsatellite instability in pMM is rare and has only been reported in known LS patients. Awareness of the pMM within LS is evolving and atypical features may prompt evaluation of DNA microsatellite repair system, with implications for the patient (treatment/screening) and their family.
Linear Identification of 8 or More Plasma Cells (PCs) in the Interfoveolar Areas (IFAs) of Sleeve Gastrectomies Is Highly Predictive ofHelicobacter pylori (H. pylori) Infection
Authors: Akrmah M , Ibrahim E , Ligato S
Published: November 2022

Introduction/Objective

Bariatric surgery for morbid obesity is dramatically increasing, and large number of sleeve gastrectomies is examined histopathologically. The GIPS guidelines recommend using a visual gestalt to identify substantial inflammation for prompting further ancillary testing for H. pylori microorganisms, and a recent study proposed an “Objective Visual Analog Scale” that justifies additional work-up for H. Pylori infection in gastric biopsies. Our study aims to establish a potential correlation between the number of plasma cells in the IFAs and the presence of H. pylori infection in sleeve gastrectomy specimens.

Methods/Case Report

We retrospectively reviewed 338 patients who underwent sleeve gastrectomy for morbid obesity at our institution from 2016-2021. Only 105 of 338 cases were included which demonstrated mild to marked lymphoplasmacytic infiltrate in the IFAs of the lamina propria on H&E stain. The number of plasma cells identified in the more expanded IFAs of the lamina propria was assessed by “drawing an imaginary horizontal line” and the number of plasma cells under the “line” were counted. H. pylori immunostain was performed in all cases. Statistical analyses were performed using IBM SPSS statistics Version 26.

Results (if a Case Study enter NA)

H. pylori like organisms were identified in 49 of 105 cases (20 cases on H&E stain and 29 cases on H. pylori immunostain). Receiver operator characteristic curve (ROC) showed that the identification of 8 or more plasma cells in expanded IFAs is both highly sensitive (93.9%; 46/49) and specific (83.9%; 47/56) for predicting H. Pylori infection with a positive predictive value of 83.6% (46/55) and area under the curve (AUC) of 0.94 (CI:0.89-0.99, p-value= 0.00).

Conclusion

In the light of above results, we propose that in sleeve gastrectomies specimens, in which H. pylori is not identified on H&E sections, the linear identification of 8 or more plasma in the more expanded IFAs is highly predictive of H. pylori infection and justify additional workup for H. pylori infection.
Diffuse Large B-cell Lymphoma of the Prostate: Case Study of an Uncommonly Encountered Entity
Authors: Harbert J , Chen J , Fakhri N , Bhalla R , Rinker E
Published: November 2022

Introduction/Objective

Hematologic neoplasms comprise less than 1% of prostate malignancies, with diffuse large b-cell lymphoma (DLBCL) accounting for 15% of those. Chronic lymphocytic leukemia/small lymphocytic lymphoma is most often seen, comprising 53% of lymphomas at this site, with the remainder consisting of marginal zone, mantle cell, and follicular lymphomas.

Methods/Case Report

Our case involves a 51-year-old African American male presenting to a medium-sized academic medical center with a chief complaint of hematuria with clot retention. Patient did endorse night sweats and chills at this time. Imaging revealed an 11 cm mass involving the prostate and bladder, a 10 cm right adrenal mass, and pelvic lymphadenopathy. A cystoscopy with transurethral resection was performed with tissue histology showing complete effacement of prostatic parenchyma by sheets of medium-sized, mildly irregular, non-cohesive cells with minimal cytoplasm. Tissue morphology appeared highly suspicious for lymphoma, but the rarity of this process along with the possibility of other lesions led to differential diagnoses including small cell carcinoma, poorly differentiated prostatic adenocarcinoma, high-grade urothelial carcinoma, and granulomatous prostatitis. Immunohistochemical staining of neoplastic cells showed CD20+ B cells with a non-germinal center immunophenotype (CD10-) and co-expression of Bcl-2 and c-myc. Subsequent FISH analysis demonstrated a Bcl-6 gene rearrangement without a Bcl-2 or MYC rearrangement. Ki67 was positive in 90% of tumor cells. Rituximab-cyclophosphamide-doxorubicin-vincristine-prednisone was initiated for stage IV DLBCL with prophylactic intrathecal methotrexate. The patient has received 6 cycles of chemotherapy to date with resolution of the prostate and adrenal masses. Bladder involvement is still seen radiographically, but is suspected to be mainly necrotic tissue.

Results (if a Case Study enter NA)

N/A

Conclusion

Less aggressive lymphomas are more common, which makes this presentation additionally unexpected. We employed a wide battery of immunohistochemical stains, including NKX3.1, s100, gata-3, pan-ck, CD68, and chromogranin and synaptophysin, when initially evaluating the neoplastic tissue.
Urinary Bladder Squamous Cell Carcinoma In-Situ in a Background of Condyloma Acuminatum – A Diagnostic Challenge
Authors: Pandiri M , Bharadwaj H , Cole L
Published: November 2022

Introduction/Objective

Condyloma acuminatum is a rare lesion of the urinary bladder and urethra, usually associated with extensive anogenital condyloma acuminatum and immunosuppression. It is considered a risk factor for developing urinary bladder squamous cell carcinoma.

Methods/Case Report

We report a case of an 80-year-old male with a history of invasive squamous cell carcinoma of the anus, status-post chemoradiation ten years prior, and renal transplantation for end-stage renal disease 15 years prior. He presented with a lesion adjacent to the neoureteral orifice at the bladder dome. Biopsy revealed nonkeratinizing, hyperplastic papillary fronds of squamous epithelium with koilocytic change and viral atypia. The tumor was positive for p16, GATA3, and p40 and negative for high-risk and low-risk Human Papilloma Virus by in-situ hybridization. However, the morphology was consistent with squamous cell carcinoma in-situ arising in a background of condyloma acuminatum, which was concurred by an outside expert. Bladder condyloma acuminata are often challenging to recognize, given their extreme rarity and the possibility of negative low-risk and high-risk Human Papilloma Virus tests. Lack of prior history of anogenital condylomas can further obscure this diagnosis.

Results (if a Case Study enter NA)

NA.

Conclusion

This case raises awareness of condyloma acuminatum as a rare entity that needs to be considered in the differential diagnosis of bladder tumors, especially in immunosuppressed patients. Given that the treatment strategies for squamous cell carcinoma arising from condyloma acuminatum differ from that for urothelial carcinoma with squamous differentiation, distinguishing these lesions from one another is imperative.
Primary S100 Negative Amelanotic Spindle Vaginal Melanoma
Authors: Halat S K , Bach K
Published: November 2022

Introduction/Objective

Vaginal melanoma is a rare malignancy composed of cells showing melanocytic differentiation and represents less than 3% of malignant vaginal tumors. It occurs in older women, typically in the distal third of the vagina. Outcomes are poor and median survival is less than 2 years. Macroscopically, 90% of these lesions are pigmented, polypoid and ulcerated. Microscopically they demonstrate diffuse, nested, trabecular, and/or fascicular patterns and are comprised of epithelioid cells with or without a spindle cell component. They are typically pigmented and S100 positive.

Methods/Case Report

Here we present a rare case of purely spindled amelanotic S100 negative vaginal melanoma. The patient is a 75 year old woman who presented with a 6 month history of vaginal discharge, and a one month history of new foul odor and vaginal bleeding, constipation, and unintentional weight loss. A large vaginal mass was palpated on physical exam. Subsequent computed tomography demonstrated a 8.2 x 8.2 x 9.4 cm mass occupying the vaginal vault with abutment of the urinary bladder anteriorly and the rectal and anal walls posteriorly. A biopsy was performed and a 3.8 x 2.2 x 1.2 cm aggregate of pink tan friable tissuse was obtained. Histopathologic examination showed a malignant neoplasm composed purely of spindled cells in a fasicular pattern. Tumor cells showed marked nuclear pleomorphism with inconspicuous nucleoli. Tumor necrosis was present. No pigment was seen. By immunohistochemistry, tumor was positive for SOX10, HMB45, and Melan A, and negative for S100, AE1/3, EMA, myogenin, desmin, smooth muscle actin, synaptophysin, chromogranin, Pax8, and GATA3. BRAF mutation analysis showed no mutations. Patient received radiation therapy with a good clinical reponse.

Results (if a Case Study enter NA)

NA.

Conclusion

Amelanotic S100 negative spindled vaginal melanoma is an unusual presenation of a rare tumor and should be considered in the workup of malignant vaginal tumors with a spindle cell morphology.
Analysis of p21expression in cervical carcinoma in a tertiary institution in Ghana: an immunohistochemical study
Authors: Duduyemi B M , Addae E , Bedu-Addo K
Published: November 2022

Introduction/Objective

Cervical cancer is one of the leading causes of female mortality worldwide. About 85% occur in low-income countries with 13.8% incidence and 14% death in Ghana. P21 overexpression in cervical cancer is linked to tumour growth and a bad prognosis. The expression profile of p21 in our setting is largely unknown, thus the necessity to evaluate p21 expression in cervical cancer

Methods/Case Report

A retrospective and descriptive study to investigate p21 expression in association with demographic and clinicopathological features of cervical cancer. The age, histologic type and tumour grade of patients were abstracted over 2 years. Tissue microarray (TMA) of suitable FFPE blocks was constructed and immunohistochemistry (IHC) was performed. Data was analysed using Statistical Package for Social Sciences (SPSS) Version 26.

Results (if a Case Study enter NA)

Of the 135 cases, age range was 31-115 years and mean age of 58.93 years (SD ± 17.88). Squamous cell carcinoma was the most common histological type (96.3%) with the non-keratinizing variant having the highest frequency (53.1%). Majority of the cases were high grade tumours (82.9%). About 66.7% of the cases stained positive for p21 antibody; most of which are high grade tumours and squamous cell carcinoma.

Conclusion

An overexpression of p21 (anti-apoptotic biomarker) was seen in high grade squamous cell carcinoma suggesting that it may contribute to tumour progression, aggressive behaviour and poor prognosis
Pelvic Cholelithiasis. A Report of 4 Cases
Authors: Policarpio-Nicolas M , Malenie R , Joehlin-Price A , Przybycin C
Published: November 2022

Introduction/Objective

Spillage of gallstones in the peritoneal cavity during laparoscopic cholecystectomy is a known intraoperative complication which could cause peritoneal irritation/abscess and occasionally present as ovarian cholelithiasis and pelvic mass. Our aim is to present the clinicopathologic findings of pelvic cholelithiasis in our institution.

Methods/Case Report

A one year computerized natural language search for “Halls, bile, pigment, crystals” in surgical final diagnosis and comment was performed. The patients’ demographic, clinical presentation & history of cholecystectomy were collected from the medical records. The pathologic findings were reviewed.

Results (if a Case Study enter NA)

We identified 4 women with an age range of 45-52 (mean=50). Three patients presented with abnormal uterine bleeding and one patient was admitted for sterilization. The time interval from cholecystectomy was 3-26 years (mean=18).Intra-operative findings were as follows: Case 1: blue-black 5 mm lesion located in the right ovary, Case 2: yellow-surface nodularity of left ovary and <1 cm white lesion in posterior cul- de sac, Case 3 two left ovarian cysts (0.8 and 1.5 cm), and Case 4 for sterilization showed a 0.3 cm. brown peritoneal lesion and unremarkable fallopian tubes. The histologic findings revealed bile pigment/crystals overlying the surfaces of the ovaries (3) peritoneum (1), & pelvis (1) with fibrosis and foreign-body giant cell reaction. The pathologic diagnosis was made in conjunction with prior history of cholecystectomy. Halls bilirubin stain was positive in 2/2 cases.

Conclusion

Pelvic cholelithiasis is an incidental finding in pre and post-menopausal women often involving the ovaries, peritoneum and pelvis. Intra-operatively, it could mimic endometriosis and pelvic mass. Histologic findings show bile pigment/crystals on serosal surface with fibrosis and foreign-body giant cell reaction. Familiarity with the histologic findings in conjunction with history of cholecystectomy is helpful in arriving at the correct diagnosis.
Malaria Parasite Infection is associated with Inflammatory and Endothelial Dysregulation in Preeclampsia
Authors: Nwadike C N , Ikaraoha I , Anyagwa M , Mbionwu U , Ogbuokiri A C , Duru M
Published: November 2022

Introduction/Objective

Previous Studies have associated Preeclampsia with alterations in inflammation and endothelial dysfunction . However the relationship between the pathway of this alteration and the Malaria infection in pregnancy remains underexplored, especially in malaria endemic regions like Nigeria where there is high incidence of preeclampsia.

Methods/Case Report

A comparative cross-sectional study was carried out among 260 pregnant women at term (18-45 years); comprising 100 preeclamptic with Malaria (PEM), 80 preeclamptic without Malaria (PE2) and 80 Normotensive, Non Malaria (Control), at Federal Medical Center Owerri, Nigeria. The groups were matched for maternal age, gestational age, gravidity and body mass index. Fasting serum lipids were analyzed by Enzymatic colorimetric method. Some Inflammatory and anti-angiogenic markers; Vascular Endothelial growth factor (VEGF), Plasminogen Activator inhibitor 1, Intracellular adhesion molecule, CRP. IL 6 and IL 8 were tested by Magnetic multiplex ELISA.

Results (if a Case Study enter NA)

There were significantly higher levels of Total Cholesterol, LDL and triglyceride among the 2 pre-eclamptic groups (PEM,PE2) compared to the normotensive nonmalaria group; P< 0.001, p=0.001, p=0.003 respectively, while HDL was decreased in the pre-eclamptic groups against the normotensive nonmalaria group (P = 0.024). PAI-1 and VEGF expressed significantly higher levels in the pre- eclamptic groups (PEM,PE2) compared to the normotensive nonmalaria group (P < 0.0001, P=0.000). Based on Malaria exposure, PAI-1, and IL8 were significantly elevated in PEM group (P < 0.0001) compared to the PE2 and normotensive nonmalaria group.

There was no significant difference in the CRP and ICAM-I between the 2 preeclamptic groups (PEM and PE2).

Conclusion

These findings demonstrated that Malaria is associated with dysregulated inflammation and endothelia function, which may enhance the pathogenesis of Preeclampsia. Further studies on the predictive role of PAI-I in the pathophysiology and diagnosis of Malaria and preeclampsia is hence suggested.
A Large High-Grade Endometrial Serous Carcinoma with Yolk Sac Tumor Differentiation in a Post- Menopausal Woman: Case Report
Authors: Nobee A , Taraif S , Arriola A , Mollaee M
Published: November 2022

Introduction/Objective

Yolk sac tumors are germ cell tumors mostly arising in the ovary or vagina, with cases reported throughout the gynecological tract. Only few cases were reported to arise in the endometrium and even fewer admixed with a conventional carcinoma especially in postmenopausal women. Yolk sac tumor-like areas are considered a form of retro-differentiation. Here we report a case of high-grade serous carcinoma of the endometrium with yolk sac differentiation in a postmenopausal woman.

Methods/Case Report

An 82-year-old Caucasian female presented with postmenopausal bleeding and a 17.6 cm endometrial mass. Total abdominal hysterectomy and bilateral salpingo-oophorectomy was performed. A large markedly necrotic friable mass occupied the entire endometrial cavity. Microscopic examination revealed a noninvasive carcinoma arising within a polyp. Tumor cells showed two different distinct morphologic patterns, including a predominantly high-grade serous carcinoma with scant foci of clear cell component, admixed with areas of squamous/eosinophilic-like morphological pattern. The latter was diffusely positive for p53, p16, AE1/AE3 and CK7, focally positive for CK5/6, GATA3, HepPar1 , AFP , PLAP , PAX8, CD30 and SALL4 , while negative for desmin, ER, PR, Napsin A, HCG, p40, p63, C-Kit, HMB45, S100, and Melan A. Mismatch repair proteins expression was intact throughout the entire tumor. Serum AFP level measured three weeks after surgery was within normal range.

Results (if a Case Study enter NA)

NA

Conclusion

Highlighting the yolk sac tumor differentiation in endometrial carcinoma is very challenging and requires a thorough immunohistochemical evaluation combined with morphologic assessment.