bluuebunny/crossref_metadata_2025_split huggingface dataset:
Indolent systemic mastocytosis or just ‘atypical enterocolic mast cell aggregates’?
Authors: Edema U , Fang Y , Qiang L , Huang Y 
Published: October 2021

Abstract

Introduction/Objective
Mastocytosis is a rare disease in which there are abnormal mast cell accumulation in one or more tissue sites. Multifocal dense mast cell aggregates with atypical morphology or immunohistochemistry are considered as systemic mastocytosis (SM) based on WHO criteria. SM usually involves bone marrow and majority of them also have KIT mutation. There are rare case reports of atypical enterocolic mast cell aggregates (EMCA) confined to gastrointestinal (GI) only with mild or no symptoms. Here we present a case with extensive atypical mast cell aggregates in lower GI tract yet no evidence of involvement of other organs.

Methods/Case Report
A 34-year-old woman presented with abdominal bloating, diarrhea along with pruritis but no cutaneous lesion. Biopsies from the ascending and descending colons, caecum and rectum consistently showed increased eosinophils and multifocal infiltrates of atypical spindle shaped mast cells which are positive for CD117/tryptase but negative for CD2 and CD25. This is consistent with SM by WHO criteria based on morphology. Bone marrow biopsy showed normal amount of mast cells with normal morphology. Upper gastrointestinal biopsy was unremarkable. Serum tryptase level was normal. No KIT mutation was detected in exon 9, 11, 13 or 17 from colonic mucosa. Patient has been treated with antihistamine and Montelukast and symptoms resolved.

Results (if a Case Study enter NA)
N/A

Conclusion
This case met the criteria of SM based on the presence of multifocal mast cell aggregates and atypical spindle morphology &gt;25%. Johncilla et al. previously reported 16 cases of EMCA with atypical morphology or immunohistochemistry, absent to mild localized symptoms, and negative KIT mutation. Based on lack of generalized disease, the authors preferred using descriptive terminology instead of ‘systemic mastocytosis’ for those cases. Our case has broader involvement of lower gastrointestinal tract than any reported case and the patient needs treatment for the symptoms. However, there is no ‘systemic’ involvement of bone marrow or any other organ. The diagnosis of ‘Systemic Mastocytosis’ would cause potential confusion and/or unnecessary anxiety. Further study of more cases is needed to better characterize and categorize the cases of atypical mast cell aggregates localized only to the GI.
Duodenal Duplication Cyst in adult male; An Extremely Rare Entity and a Diagnostic Pitfall leading to Whipple procedure
Authors: Hussain F , Sonani H , Anderson C , Varshney N 
Published: October 2021

Abstract

Introduction/Objective
Whipple procedure is a complex, invasive operation and has high morbidity and mortality. It is the most commonly indicated treatment for treating malignant tumors, however, it can be also used for benign entities as well including biliary stricture, chronic pancreatitis, choledochal cyst, inflammatory pseudotumour, and duodenal angiodysplasia.

Methods/Case Report
We report a case of a 50-year-old man who presented with symptoms of gastric outlet obstruction. Esophagogastroduodenoscopy and CT scan showed an obstruction at the level of the second part of the duodenum with proximal dilation. Subsequently, a Whipple procedure was performed based on high clinical suspicion of duodenal cancer. Gross examination revealed a unilocular thick walled cyst (4.2 cm) in the duodenum. Histopathologic examination showed a cyst lined by duodenal mucosa with thick smooth muscle wall and focal ectopic gastric tissue. This was finally diagnosed as a duodenal cyst consistent with duplication cyst.

Results (if a Case Study enter NA)
NA

Conclusion
Duplication cysts are rare congenital abnormality predominantly diagnosed in infancy and childhood. They are most commonly located in the distal ileum, followed by the esophagus and ileocecal region, and are extremely rare in duodenum. Differential diagnosis includes choledochocele, pancreatic pseudocyst, and cystic tumors of the pancreas, mesenteric cysts, and duodenal diverticulums. Treatment options include total excision, cystojejunostomy, and endoscopic marsupialization but occasionally may lead to more invasive measures such as the Whipple procedure. Although duodenal duplication cysts can have variable clinical presentation and radiological findings, making preoperative diagnosis very challenging, it is still pertinent to be aware of this entity for the optimal patient care.
Dicyclomine-Induced Esophagitis Dissecans Superficialis
Authors: Alkamachi B , Siddiqui Y , Jaratli H 
Published: October 2021

Abstract

Introduction/Objective
Esophagitis dissecans superficialis (EDS) is a rare benign condition of the esophagus, characterized by desquamation of superficial epithelium of the esophageal lining. Etiology is uncertain, considered idiopathic in most cases. EDS can be associated with medications, hot beverages, chemical irritants, celiac disease and skin bullous disorders. It has a predilection for the distal and/or middle esophagus.

Methods/Case Report
We report a case of a 25-year-old otherwise healthy female with mild gastrointestinal symptoms over 3 years. Her symptoms had worsened over a period of 2-3 weeks, and she complained of lower abdominal cramping associated with constipation. No rectal bleeding or melena was reported. Labs including complete blood count and comprehensive metabolic panel were within normal range values. A presumptive diagnosis of irritable bowel syndrome was made by gastroenterologist. Antispasmodic drug, Dicyclomine 10 mg capsule (a blue capsule), was prescribed. After 4 weeks, a scheduled esophagogastroduodenoscopy revealed patchy plaque-like mucosal changes, characterized by blue discoloration, in the upper third of esophagus. Microscopically, biopsy showed strips of squamous mucosa with a thick layer of parakeratosis, basal cell hyperplasia and foci of minimal inflammation. There were multiple transverse splits at different levels in the parakeratotic layer. A pathologic diagnosis of EDS was established. A further clinical investigation demonstrated that the patient was swallowing medication without water.

Results (if a Case Study enter NA)
NA

Conclusion
In conclusion, we present the first case of Dicyclomine-Induced EDS secondary to an irritant effect of waterless medication ingestion. Recognition of this rare entity and clinical correlation are important as it can pose a diagnostic challenge to pathologists and clinicians.
Incidental Gastrointestinal Stromal Tumors – What can we learn from them?
Authors: Proca D , Lazim A , Mazur I , Jhala N 
Published: October 2021

Abstract

Introduction/Objective
Gastrointestinal stromal tumors (GIST), albeit very rare overall, with approximately 5,000 new diagnoses yearly in the US, represent the most common mesenchymal tumor involving the GI tract. particularly the stomach and small bowel. Much progress has been made in the past two decades in terms of classification and targeted therapy of GIST, however, their behavior is still quite challenging and unpredictable, and their prognosis remains guarded.

Methods/Case Report
We reviewed our institutional experience with GIST over the past decade and identified 80 GIST in total, 5 of which were incidental findings, meaning that they were detected as a secondary diagnosis in a specimen that was obtained for a different pathology. All 5 tumors were less than 2 cm in greatest dimension and showed less than 5 mitoses/ 50HPF, which put them into the “no risk of malignant progression category”. As a matter of fact, all five tumors were less than 1 cm (ranging from 0.2-0.7cm), while the mean size overall for GIST is 6 cm, ranging from 0.2-40 cm. They were all c-kit and DOG-1 positive, and 3 out of 5 incidental GIST were diagnosed in association with an adenocarcinoma of the GI tract (gastric or distal esophagus). Three of the 5 incidental GIST were located in the stomach, one in the distal esophagus and one in the sigmoid; unsurprisingly, two gastric and one esophageal GIST were associated with poorly differentiated adenocarcinoma of the stomach or distal esophagus. The mean age at diagnosis in our series was 72.4 yo, while reported mean age for GIST ranges between 60-65yo. All but one of the patients with incidental GIST were males, while there seems to be no gender predilection in GIST in general. The two benign cases associated with incidental, “no risk” GIST were perforated diverticulitis and sleeve gastrectomy for morbid obesity. Review of the stained slides showed no apparent increase of interstitial cells of Cajal in the blocks containing the tumor.

Results (if a Case Study enter NA)
NA

Conclusion
In summary, we report a small series of 5 incidental GIST diagnosed over a span of 10 years in our institution. Although a rare tumor overall, with an annual incidence of 10-20 new cases/ million, incidental GIST is even more rare, in our case representing 6.25% out of the total number of cases diagnosed in a decade. Increased awareness of the incidental GIST and closer pathological assessment may throw more light into the pathogenesis of GIST in general.
Malignant Mixed Germ Cell Tumor of the Testis with Associated Nephroblastoma: A Rare Entity
Authors: Al-Attar M M , Cosar E F , Clark J L 
Published: October 2021

Abstract

Introduction/Objective
While nephroblastoma is the most common primary childhood renal malignancy, it rarely occurs at extra-renal sites. Testicular nephroblastoma is exceedingly rare, with only 5 previously reported cases arising in association with primary testicular teratoma (4 of which arising in non-atrophic, and 1 arising in atrophic testis). We report a case of testicular nephroblastoma with multiple associated germ cell components.

Methods/Case Report
The case is that of a 28-year-old male presenting with an enlarging, painless right scrotal swelling. Laboratory results showed elevated serum AFP with normal LDH and beta-HCG, and imaging confirmed the presence of a heterogenous testicular mass. A radical orchiectomy was performed, revealing a tan-white, fleshy, nodular 5.5 cm mass almost entirely replacing the testicular parenchyma. Microscopically, the tumor consisted of multiple components. The nephroblastoma component was associated with teratoma with immature elements and consisted of epithelial tubular structures, small blue blastemal cells, and pale mesenchymal stroma which demonstrated pan-cytokeratin and patchy WT1 expression by immunohistochemistry. Additional components included yolk sac tumor and minor component of seminoma. Foci of germ cell neoplasia in-situ were also identified, supported by immunohistochemical stains for PLAP and OCT3/4. The patient’s post-resection tumor markers normalized, and further assessment for metastasis and chemotherapy is pending.

Results (if a Case Study enter NA)
NA

Conclusion
Malignant mixed germ cell tumors of the testis with associated nephroblastoma are exceedingly rare, further studies nand followup are required to determine prognostic values and achieve a more complete understanding of this combination of entities.
Malignant Melanoma of the Genitourinary System
Authors: Khayyat A , Amin A 
Published: October 2021

Abstract

Introduction/Objective
Malignant melanoma (MM) of mucosal membranes (excluding anus and head and neck) is a rare but aggressive disease with poor outcome. There is little information available on the development mechanism, risk factors, and management of this tumor, mainly due to the low number of cases.

Methods/Case Report
We performed a comprehensive literature review on mucosal MM (between 1970-2020). We identified 52 papers reporting 242 patients with primary genitourinary melanomas (limited to urothelium, vagina and cervix). A comprehensive review of the demographics, stage, treatment and survival was performed.

Results (if a Case Study enter NA)
The demographics are provided in Table 1. In 204 cases, lesions were located in the urothelium (urethra: 202, bladder: 2) followed by 34 in the vagina and 4 in uterine cervix. None of the cases had any other known primary source of MM. Molecular studies in a subset of cases revealed alterations in c-KIT, NRAS, BRAF (non-V600E and V600E), TP53 and NF1 (Table 2). Tumor stage was provided in a few (n=10) cases (stage 1=1, stage 2=1, stage 3=3 & stage 4=5). 3 patients had distant metastasis (brain, retroperitoneal and inguinal lymph nodes). Treatment data was available in 178 cases. 177 patients were managed by surgery. In addition to surgery, 10 received chemotherapy, 7 received immunotherapy and chemotherapy, 2 received chemoradiation, 1 received immunotherapy and 1 received radiotherapy. In 43 patients, the treatment regimen was not provided. The outcome was available in 178 cases (range of follow up between 3-97 months), showing 15 deaths of disease. Median survival based on available information in 28 patients was 82% (5-year survival). Table 1 legend: Demographics of genitourinary malignant melanoma cases.
Table 2 legend: Frequency of molecular alterations in genitourinary malignant melanoma.

Conclusion
Similarities in genetic signatures of mucosal and skin MM suggest similar mechanism of development; however, unlike skin melanoma, there is less BRAF mutation and more of PI3K/AKT/mTOR pathway alterations in mucosal MM. Prolonged administration of chemotherapy (i.e., methotrexate) and immune-modulating agents (i.e., natalizumab) may be a risk factor. In light of absence of a definite adjuvant therapy, tumor stage at the time of diagnosis and proper surgical removal have central role in the prognosis and survival of patients.
Two Cases of The Follicular Lymphoma of The Breast: An Exceedingly Rare Presentation
Authors: Kumar V , Sonani H , Patel T , Lam J 
Published: October 2021

Abstract

Introduction/Objective
The primary Non-Hodgkin lymphoma of the breast is a very rare entity, which comprises only less than 0.5% of all breast malignancies. The follicular lymphoma of the breast is still rarer as the most common type is diffuse large B cell lymphoma (DLBCL). We are reporting two cases of follicular lymphoma of the breast.

Methods/Case Report
Case 1: A 67-year-old female with a history of low-grade follicular lymphoma of the lacrimal gland and cervical lymph node was presented with 1.7 cm irregular soft tissue mass in the upper inner quadrant of left breast identified on CT scan. Microscopic examination showed diffuse infiltration of medium-sized lymphocytes with focal follicular architecture. These lymphocytes were positive for CD20, CD10, BCL2, BCL6, and Ki67 (10%); while negative for CD5, CD3, cyclin D1, and EBER. These findings are consistent with low-grade follicular lymphoma. Subsequently, a biopsy of the right breast mass revealed similar findings. The patient was followed up with a PET scan every six months and doing well.
Case 2: A 52-year-old female with a history of low-grade follicular lymphoma of the right hard/soft palate junction was presented with bilateral breast masses identified on mammography. The biopsy was performed and microscopic examination showed vaguely follicular architecture with small to medium-sized lymphocyte infiltration. The flow cytometric analysis revealed CD10 positive B cell population with kappa light chain restriction. Fluorescence in situ hybridization (FISH) analysis showed 96% of cells with BCL2 and BCL6 rearrangement. These findings were consistent with low-grade follicular lymphoma. The patient was started on chemotherapy with good outcomes.

Results (if a Case Study enter NA)
N/A

Conclusion
By reviewing two cases, we emphasize the rarity of follicular lymphoma in the breast. The most important differential diagnosis is extranodal marginal zone lymphoma and DLBCL. In absence of flow cytometric analysis FISH analysis for BCL-2 rearrangement or other molecular analysis is key to diagnose follicular lymphoma.
Unusual Case of Uterine Intravascular Leiomyomatosis with Lymphatic Spread to Pelvic Lymph Nodes
Authors: Siatecka H , Masand R 
Published: October 2021

Abstract

Introduction/Objective
Intravascular leiomyomatosis, also known as intravenous leiomyomatosis, is characterized by presence of smooth muscle within venous spaces in the myometrium, usually in conjunction with a leiomyoma. Although presence of tumor within lymphatics in addition to veins are alluded to in literature, exclusively lymphatic spread with lymph node metastases have not been previously reported.

Methods/Case Report
A 50-year-old woman presented with left flank pain. CT pelvis showed an enlarged uterus with multiple large leiomyomata as well as pelvic lymph node enlargement. Hysterectomy with bilateral salpingo- ophorectomy and pelvic lymph node dissection was performed. Gross examination revealed multifibroid uterus. Separately sent pelvic lymph nodes showed well-circumscribed, whorled lesions resembling leiomyoma. Microscopically, in addition to typical leiomyomata, a 11.5 cm intramural tumor with epithelioid cells, very rare mitoses and no necrosis was identified. Adjacent to this mass, several large endothelial lined spaces (positive for D240 and negative for CD31), consistent with lymphatics, showed intravascular extension of the same epithelioid tumor. All the pelvic lymph nodes were replaced by the tumor. Due to the unusual morphology and pattern of spread, immunohistochemical stains were performed to rule out an endometrial stromal sarcoma and lymphangioleiomyomatosis. The lesion was positive for desmin, caldesmon, and negative for CD10 and HMB45. Ki67 was extremely low (&lt;1%). Based on morphology and immunophenotype, the tumor was consistent with an epithelioid leiomyoma with highly unusual lymphatic spread through myometrial vessels to regional lymph nodes.

Results (if a Case Study enter NA)
NA

Conclusion
Intravascular leiomyomatosis is a rare condition with no reported progression to malignancy. Typically, benign smooth muscle is present in veins within the myometrium of a leiomyomatous uterus with progressive spread to the right heart via the inferior vena cava. We present the first report of a rare case of intravascular leiomyomatosis with spread exclusively via lymphatics to pelvic lymph nodes.
Primary Malignant Melanoma of Vagina: A Clinicopathologic Analysis of 6 Cases
Authors: Xiang Y , Xu X G , Zhang X 
Published: October 2021

Abstract

Introduction/Objective
Primary malignant melanoma of vagina (PMMV) has a very high rate of recurrence and poor long-term survival. Less than 250 cases are reported in English literature to date, optimal treatments, risk factors, and prognostic predictors for PMMV are still subjects of debate. This study sought to evaluate the clinicopathologic features, initial management, and survival of 6 patients over 7 years follow-up in one institution.

Methods/Case Report
In this study, the clinical and pathologic features of 6 PMMV occurring in patients age 49 to 83 years were evaluated retrospectively. The mean age of the patients was 68.2 years, and all patients were postmenopausal women. At the time of diagnosis, all tumors were limited to the vagina.

Results (if a Case Study enter NA)
Vaginal bleeding, discharge and a tumor mass were the chief complaints. These patients were treated by pelvic exenteration, radical surgery and postoperative chemotherapy and/or radiotherapy. Follow-up was available in all patients ranging from 1 to 7 years. Two patients had metastases in other organs died at 16 and 34 months respectively. Two patients had distant recurrence at 1 to 2 years and are still alive. The other 2 patients have no evidence of disease over 2 years follow-up. Grossly, the tumors were mostly polypoid and ranged from 0.25 to 9.5 cm (mean, 5 cm) in maximum dimension. The depth of invasion ranged from 2.2 to 11 mm. A vertical growth phase was present in all tumors. S-100, HMB-45 and Melan-A were positive in 100% of cases tested. Depth of invasion, mitotic index of tumor cells, tumor size, age, menopausal status, pelvic lymph node metastasis and lymphocytic infiltration show no tendency towards progression-free survival. Patients with positive or indeterminate margin status demonstrated a higher risk of recurrence than did patients with negative margins. And adjuvant therapy was associated with progression-free survival.

Conclusion
In conclusion, PMMV is a rare disease, predominantly seen in women of postmenopausal age, and is associated with a poor prognosis. This study confirms S-100, HMB-45and Melan-A remains the most sensitive marker. Conventional predictors were of no prognostic value. Positive margin and adjuvant therapy were associated with progression-free survival. This report can facilitate the expansion of the phenotypic spectrum of gynecologic melanomas, and contribute to the prevention of misdiagnosis and inadequate treatment of PMMV.
Primary small cell neuroendocrine carcinoma of oropharynx: A potential diagnostic pitfall with Human papillomavirus (HPV)-related squamous cell carcinoma
Authors: Yang L , Hammad A , Abramovich C 
Published: October 2021

Abstract

Introduction/Objective
Small cell neuroendocrine carcinoma (SCNEC) primary to the head and neck region, especially from oropharynx, is very rare. Published data have shown that Human papillomavirus (HPV) positivity may be associated with a better overall survival in these tumors. Here we report a case of p16 positive SCNEC arising from the tonsil.

Methods/Case Report
A 51-year-old man with former smoking history was evaluated for sore throat and difficulty swallowing. Nasopharyngolaryngoscopy showed a left tonsillar mass and imaging revealed left jugular chain lymphadenopathy with no other evidence of a primary tumor elsewhere, including the lung. Biopsy of the mass was performed which revealed nested proliferation of uniform, hyperchromatic tumor cells with scant cytoplasm, indistinct nucleoli, areas of nuclear molding, and brisk mitotic activity. No keratinization was present, but a vague peripheral palisade was seen in some of the nests. The major differential diagnostic considerations included HPV-related nonkeratinizing squamous cell carcinoma, basaloid squamous cell carcinoma, and SCNEC. Immunohistochemistry revealed tumor cells were positive for AE1/AE3 with partial dot-like perinuclear pattern, cytokeratin 8/18, synaptophysin, and strong p16; negative for P40, P63, cytokeratin 5/6, cytokeratin 7, chromogranin, and CD56. Because SCNEC at any site may be positive for p16, testing for HPV RNA by in-situ hybridization was performed and showed negative for HPV subtypes 6, 11, 16, and 18.

Results (if a Case Study enter NA)
NA

Conclusion
This case highlights the differential diagnosis of a “basaloid” appearing carcinoma in the oropharynx. It also reinforces the fact that although p16 is considered a reliable surrogate marker for HPV infection in oropharyngeal squamous cell carcinoma, the same does not hold true for SCNEC.