bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gastric Plexiform Fibromyxoma: A Rare Clinical Entity
Authors: Altameemi H , Asghar I A 
Published: November 2022

Abstract

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

Abstract

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

Abstract

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&lt;0.001), greater nuclear perimeter (24.9μm vs 23.8μm; p&lt;0.001), less circularity (0.80 vs 0.81; p=0.005), and was more elliptical (eccentricity: 0.74 vs 0.72; p&lt;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;&lt;0.001), perimeter (p=0.006;&lt;0.001), and eccentricity (p=0.005;&lt;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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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.