bluuebunny/crossref_metadata_2025_split huggingface dataset:
Parathyroid carcinoma: molecular pathology and correlation with clinicopathologic features, a single center experience
Authors: Wadhawan A , mehta V , Bajaj U 
Published: October 2024

Abstract

Introduction/Objective
Parathyroid Carcinomas are rare malignant neoplasms, accounting for less than 1% of primary hyperparathyroidism cases. Parathyroid carcinomas are characterized by markedly elevated levels of PTH, severe hypercalcemia and established target organ damage. The authors report the experience of a single center regarding the clinic-pathologic and genetic analysis of parathyroid carcinoma cases.

Methods/Case Report
The study is a retrospective review of all patients with parathyroid carcinoma that were evaluated at a tertiary oncologic center from 2001 until 2023.

Results (if a Case Study enter NA)
A total of nine cases (6 male and 3 female) were identified, with a mean age at diagnosis of 52 ± 16 years and a median follow-up of 16.5 years. Most patients presented with hypercalcemia (n = 7), with a mean serum calcium concentration of 13.5 mg/dl (9.6-16.5) and a mean PTH of 1123 pg/ml (&lt;a href=“tel:276- 2500”&gt;276-2500&lt;/a&gt;). En bloc surgical resection was performed in 6 patients and 3 patients underwent adjuvant radiotherapy. Recurrence was observed in 4 cases (44.4%) after a median of 24 months following surgery. Negative immunohistochemical staining of parafibromin was noted in 3/4 cases of recurrence. Parathyroid carcinoma was diagnosed on the basis of finding lesions with vascular or perineural invasion, capsular penetration, and/or documented metastases. Immunohistochemical staining for parafibromin, Ki-67, and E-cadherin was performed on formalin-fixed, paraffin-embedded tissue samples. Next generation sequencing (NGS) was performed in 6/9 cases and CDC73 mutations were present in 38.5% of analyzed patients. Loss of TP53 and RB1 alleles and CCND1 amplification were other reported genetic alterations in the study cohort.

Conclusion
Parathyroid carcinoma is associated with a significant rate of recurrence and limited effective treatment beyond initial complete surgical resection. Inactivating CDC73 alterations which include truncating or frameshift mutations, as well as missense mutations lead to the loss of parafibromin immunoreactivity. Other molecular alterations like PTEN and PIK3CA mutations may represent potential targets for molecular therapy. An IHC panel of parafibromin, Ki-67 and E-cadherin may help to distinguish parathyroid carcinoma from other parathyroid neoplasms.
ACUTE EOSINOPHILIC APPENDICITIS IN A CHILD WITH NORMAL TOTAL LEUKOCYTE COUNT AND ABSOLUTE EOSINOPHILIC COUNT
Authors: Zedan M , Mohammed R , Galliani C 
Published: October 2024

Abstract

Introduction/Objective
Eosinophilic appendicitis is a rare condition with a reported incidence of 0.03% to 1.2%, and often presents with clinical manifestations indistinguishable from acute appendicitis. Eosinophilic appendicitis may be associated with a localized allergic phenomenon.

Methods/Case Report
We present a 13-year-old male with ~24-hour history of constipation who was brought to the emergency department because of right lower quadrant abdominal pain, nausea, and vomiting. He was afebrile and had no antecedent of atopy or parasitic infestation. Laboratory investigation revealed an elevated C-reactive protein: 0.7 mg/dL [0.0-0.3]; mildly decreased hemoglobin: 12.2 g/dL [12.6 -16.8]; normal white blood cell count: 9.7 x10 3/mcL [3.2-10.6]; eosinophil count:1.7% [&lt;5] and mildly elevated monocyte count: 0.9 x103/mcL [0.2-0.7]. Ultrasound examination revealed a non-compressible 7mm in diameter hyperemic appendix. The laparoscopic appendectomy specimen measured 9.5 cm long by 0.8 cm in diameter. The serosa was focally congested and there was mild mural thickening but no obvious sign of active appendicitis. Microscopic examination showed focally abundant mucosal eosinophils and a considerable sprinkling of eosinophils throughout the muscularis propria. No intraluminal parasite or neutrophilic associated mucosal damage was seen. The final diagnosis was: Acute Eosinophilic Appendicitis.

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

Conclusion
Among the many and still intriguing causes of appendicitis is acute eosinophilic appendicitis. Eosinophils exert homeostatic roles in the normal host and pathological eosinophil-mediated processes over different tissues and their varied milieu. While this patient did not have any evidence of allergy, parasitic infestation, or elevated eosinophilic count in his work up, the presentation of acute appendicitis without an increase in total leukocytic count may alert for the possibility of an eosinophilic appendicitis. Conceivably, eosinophil mediators, such as IL-5, IL-33, granulocyte–macrophage colony-stimulating factor, thymic stromal lymphopoietin, and eotaxin-1 determine eosinophil behavior in a rarified appendix microenvironment.
SMARCA4-Deficient Undifferentiated Carcinoma of the Gastroesophageal Junction: A Case Report
Authors: Elkady M , Al-Kawaaz M , Al-Quran S 
Published: October 2024

Abstract

Introduction/Objective
To report a rare case of the newly characterized variant of gastric carcinoma; undifferentiated carcinoma with intact SMARCB1 (INI1) but lost SMARCA4/SMARCA2, and approach to diagnosis.

Methods/Case Report
A case of gastric mass extending to the gastroesophageal junction, microscopically, showing sheets of atypical, medium to large, discohesive, polygonal cells with large eccentric and pleomorphic nuclei, variably prominent nucleoli, and eosinophilic cytoplasm with brisk mitosis, in the background of marked necrosis and granulomatous inflammation. And having focally positive staining for cytokeratin and negative for melanoma, diffuse large B-cell lymphoma, high grade neuroendocrine tumor, sarcoma, rhabdoid/myoid-specific immunohistochemistry (IHC) markers. The case was further characterized with immunophenotypic, cytogenetic, and molecular findings.

Results (if a Case Study enter NA)
By immunohistochemistry (IHC), the large tumor cells were positive for vimentin, FLi-1 and patchy CD71. A subset of tumor cells showed CD34 positivity. The tumor cells were mainly negative (with rare focal positivity) for all cytokeratin including (CK AE1/AE3, EMA, and CK OSCAR). Tumor cells were negative for specific markers for melanoma, GIST, sarcomatous tumors, squamous cell carcinoma, hematolymphoid malignancies, and neuroendocrine tumors. EBER-ISH and HHV-8 were negative. The Ki67 showed a proliferative index of ~60%.
The tumor cells demonstrated retention of INI1 (SMARCB1) with loss of both SMARCA2 and SMARCA4 by IHC. Molecular studies detected an inactivating mutation of the retinoblastoma-1 gene (RB1 I124Rfs*6) and TP53 with altered function compared to wild-type (TP53-G245S) with no mutations or deletion of SMARCB1 gene. The status of SMARCA4 gene came as indeterminate. No microsatellite Instability detected.

Conclusion
Our study demonstrates the challenge of diagnosing the SMARCA4/SMARCA1-deficient undifferentiating gastric carcinoma especially with negative cytokeratin stains, showing the immunohistochemistry profile of the tumor and its molecular findings in our case.
The Prognostic Significance of Tumor Deposits in Non-Metastatic Colorectal Cancer: Comparing Risk of Recurrence and Metastasis with High-Risk Features
Authors: BENDARI A , Sham S , Al-Refai R , Mohamed A , Des Jean R , Harshan M , Bendari A , Bendari T , Ucar E , Kiran F 
Published: October 2024

Abstract

Introduction/Objective
Tumor deposit (TD) is a prognostic factor in colorectal cancer (CRC) patients. This study aims to determine if TD poses a similar risk of local recurrence and distant metastasis as known high-risk (HR) features in non-metastatic CRC.

Methods/Case Report
An analytical cross-sectional design was employed. Our hospital clinical and pathology databases were queried for stage I-III CRC patients from January 2016 to December 2018 and divided into two groups: TD only group defined by TD on histopathology and HR group defined by obstruction, perforation, or T4- stage. The following variables were collected from each case; biological factors (age, gender, race, and BMI), tumor features (tumor size, tumor grade, presence of LVI, PNI, lymph node status and TN staging) and postoperative follow up (development of recurrence, adjuvant chemotherapy, and overall survival (OS) duration). Data were analyzed using Kruskal-Wallis test for continuous variables and chi-square and Fisher’s exact test for categorical variables.
Survival analysis was conducted using Kaplan-Meier estimate graphs.

Results (if a Case Study enter NA)
A total of 138 non-metastatic CRC patients who underwent surgery and chemotherapy were identified. The TD group consisted of 79 (57.2%) patients with a median age of 67 y (range 35 - 94 y), including 40 (50.6%) males and 39 (49.4%) females. The HR group comprised 59 (42.7%) patients with a median age of 70 y (range 28 - 103 y), including 25 (42.4%) males and 34 (57.6%) females. There were no significant demographic differences between the groups (P&gt;0.05). However, tumor size, tumor grade, presence of lymphatic vessel invasion (LVI), perineural invasion (PNI), and tumor-node (TN) staging exhibited statistically significant differences between the groups (P&lt;0.05). Local tumor recurrence and/ distant metastasis occurred in 29 patients (36.7%) in the TD group and 18 patients (30.5%) in the HR group, with median time for recurrence and/or metastasis 11 months and 12 months, respectively. There was no significant difference between the groups (P&gt;0.05). TD patients had a median survival duration of 42 months, whereas HR group patients had a median survival of 51 months, although this difference was not statistically significant (P&gt;0.05).

Conclusion
In non-metastatic CRC patients, TD poses a similar risk of local tumor recurrence and distant metastasis as HR factors. HR patients may have a longer survival than TD counterpart. Based on these findings both groups should be subjected to enhanced surveillance.
Appendiceal Mucosal Schwann Cell Proliferation Associated with Incidentally Detected Goblet Cell Adenocarcinoma of Appendix in a Case of Invasive Adenocarcinoma of Sigmoid Colon- A Case Report
Authors: Palathingal Bava E , Jaratli H 
Published: October 2024

Abstract

Introduction/Objective
Appendiceal mucosal Schwann cell proliferation has been suggested to be a putative histologic marker of appendiceal diverticular disease. Appendiceal Goblet cell adenocarcinoma, (GCA) is amongst the most rare appendiceal tumors with a reported incidence of 0.05 cases per 100,000 population per year in United States. They have features of both neuroendocrine tumors and adenocarcinomas, but behave more similarly to adenocarcinomas.

Methods/Case Report
Herein, we report a case of appendiceal mucosal schwann cell proliferation associated with incidentally detected Goblet cell adenocarcinoma of appendix in a known case of invasive adenocarcinoma of sigmoid colon. A 75-year-old female presented with sigmoid colon obstruction. Intraoperatively, she was found to have gangrenous and perforated colon, as well as a large obstructing sigmoid mass, and underwent total abdominal colectomy with end-ileostomy. On gross examination, a tan bosselated tumor (up to 3.5 cm) was seen in proximal sigmoid colon. Microscopic examination showed Invasive adenocarcinoma, moderately-differentiated. Appendix was unremarkable on gross examination. Incidentally, the appendix microscopically demonstrated “Goblet cell adenocarcinoma”, histologic grade 1 out of 3 (pathologic stage pTis pN0), present in multiple foci within lamina propria of the distal third of appendix over an area measuring 1.5 cm. Additionally, there were foci of SOX10-positive bland- looking spindle cell proliferation in lamina propria of the appendix. This proliferation is rendered as “Schwann cell proliferation”.

Results (if a Case Study enter NA)
NA

Conclusion
One study found that “Schwann cell proliferation” is seen in 42% of appendiceal diverticula cases. It has never been reported in association with “Appendiceal GCA” before. Here we report an intriguing case of Schwann cell proliferation associated with this rare entity of GCA for the first time in literature. Therefore, awareness of such coexistence of these pathologic entities in the same appendix is essential to alert the pathologist to look for GCA, whenever Schwann cell proliferation is encountered in random section of an appendix. This case also emphasizes the importance of being vigilant of the possible presence of other tumors in a specimen with a known tumor.
Case Report of Rectosigmoid Vascular Malformation
Authors: Balzora S , Wu H , Zee S , Dane B , Leleannec I 
Published: October 2024

Abstract

Introduction/Objective
Gastrointestinal (GI) vascular malformations and hemangiomas, although infrequently encountered, can present with similar clinical symptoms as other more common causes of chronic hematochezia, such as hemorrhoids or inflammatory bowel disease (IBD, ex. Crohn’s disease, ulcerative colitis). Whereas hemangiomas are benign vascular tumors that grow quickly and often involute, vascular malformations consist of abnormal vasculature that grow in size as the individual ages without regression. Gastrointestinal vascular malformations can result in pain secondary to applied pressure on nearby tissues/organs and induce a chronic anemic state secondary to ongoing hematochezia. As surgery or sclerotherapy can often treat the condition, proper diagnosis is critical as it can impact treatment and quality of life. Among GI vascular malformations, rectosigmoid vascular malformations are uncommon, making up 5% of lower limb vascular malformations examined in recent published literature. In this case report, we highlight a case of rectosigmoid vascular malformation.

Methods/Case Report
A 41-year-old female, initially treated for inflammatory bowel disease (IBD), presents with multiple bloody bowel movements a day accompanied by nausea secondary to chronic proctosigmoiditis refractory to medications traditionally used in IBD: mesalamine derivatives, systemic corticosteroid, and biologics. While colonoscopy demonstrated some features suggestive of ulcerative colitis, CT and MR enterography showed severe rectal wall thickening with phleboliths, which was unchanged over many years, suggestive of a vascular malformation such as a hemangioma. Following rectosigmoid colon resection, a diagnosis of a 9 cm rectosigmoid vascular malformation was made, showing extensive bowel wall involvement by the malformed vasculature. On follow-up, the patient is doing well, and her symptoms have completely resolved.

Results (if a Case Study enter NA)
NA

Conclusion
Vascular malformations can be classified into various subtypes (capillary, venous, arterial, lymphatics, etc), found throughout the body, and vary in size. Our case consists of a mixed nature (artery, vein, and lymphatics), notable size (9.0 cm in greatest dimension) with extensive bowel wall involvement, and an unusual location (rectosigmoid region). This case represents an uncommon presentation of this entity, which appears to be clinically challenging. Though uncommon, this diagnosis should be on the differential of unusual etiologies of overt lower GI bleeding.
Solitary fibrous tumor of the stomach
Authors: Aslam Sumayya , Chandan Vishal S , Shah Sejal S , Aslam S , Chandan V S , Shah S S 
Published: October 2024

Abstract

Introduction/Objective
Solitary fibrous tumor (SFT) is an uncommon fibroblastic tumor that originates from the mesenchymal tissue. It has been rarely reported within the stomach. None of these reported tumors have occurred in a background of autoimmune atrophic gastritis as was seen in our patient.

Methods/Case Report
Case report

Results (if a Case Study enter NA)
An 85-year-old female with history of anemia and autoimmune atrophic gastritis presented with two-month history of dysphagia and abdominal discomfort. Upper gastrointestinal endoscopy showed a 1 cm subepithelial lesion in the gastric body along the greater curvature. Upper endoscopic ultrasound showed mildly hypoechoic lesion in the submucosa of the stomach with the differential of leiomyoma, neuroendocrine tumor, gastrointestinal stromal tumor, and an atypical looking lipoma. The entire gastric lesion was lifted with submucosal saline injection and then resected using cap endoscopic mucosal resection (EMR) snare cautery. Gross examination showed a well-circumscribed lesion with firm, tan-white cut surface. On microscopy, a bland appearing spindle cell proliferation within a collagenous stroma was seen with alternating hypercellular and hypocellular areas and few dilated vessels. No significant mitosis, nuclear pleomorphism or necrosis was identified. Immunohistochemical stains were performed and the lesional cells were positive for STAT6. Markers for gastrointestinal stromal tumor (CD117, DOG1), smooth muscle tumor (desmin, smooth muscle actin) and schwannoma (S100, SOX10) were negative.
Nuclear staining for STAT6 is a sensitive and specific marker for SFTs. This particular SFT was considered to be of low risk and non-malignant considering its small size, lack of mitotic activity and tumor necrosis. The etiology for SFT is not entirely clear but molecular studies have shown that the NAB2::STAT6 translocation in a spindle cell neoplasm is a diagnostic hallmark for SFTs.

Conclusion
Solitary fibrous tumors have been rarely reported within the stomach. Complete surgical resection with negative margins is the mainstay of treatment as they may recur after an incomplete resection.
A New Diagnosis of Intestinal Metaplasia in Gastric Mucosa: Convolutional Neural Network Based on Visual Auxiliary Method
Authors: li H , Ye P 
Published: October 2024

Abstract

Introduction/Objective
Intestinal metaplasia (IM) is a common lesion observed in chronic gastric disease and is thought to be associated with the development of gastric cancer. One of the characteristics of IM is the presence of goblet cells. However, differentiating these inconspicuous goblet cells from glandular cavities and gastric mucus cells using traditional algorithms is inefficient. This paper proposes an interpretable auxiliary diagnosis method for gastric mucosal intestinal metaplasia based on a convolutional neural network(CNN).

Methods/Case Report
The overall flow chart of the algorithm is shown in Figure 1A. The self-constructed gastric mucosa dataset is utilized in this paper for IM. To improve performance, some modifications are applied to the U-Net. The auxiliary diagnosis process incorporates R34W and R34U for segmenting the glands and IM regions. The R34W represents a dual-resolution input network structure (Figure 1B). For the initial stage of the auxiliary diagnosis, the convolutional neural network calculates patches with both large and small fields for gland region segmentation. Then, the IM glands segmentation network is used to classify regions with and without IM lesions.

Results (if a Case Study enter NA)
The result of the WSI level mask generated after post-processing is shown in Figure 2A. R34W Net offers significant advantages in differentiating open epithelial structures and proper glands. This network effectively differentiates between proper glands and epithelial regions while maintaining precise segmentation, leveraging high-resolution features in a small visual field. The quantitative indexes of gland segmentation networks are shown in Figure 2B. As part of auxiliary diagnosis, the classification of proper glands with intestinal metaplasia achieves the highest accuracy of 0.95 and AUC of 0.975 in the test datasets (Figure 2C). The area proportion of IM regions generated by CNN is shown in Figure 2D.

Conclusion
This paper provides a visual auxiliary method based on a CNN for the pathological diagnosis of intestinal metaplasia. The goal is to enhance the speed and accuracy of pathologists in performing this diagnosis. Additionally, we propose a CNN with a dual-resolution input structure, which is utilized for segmenting gastric proper glands.
Eosinophilic gastroenteritis, a rare case report and literature review
Authors: Eladely A , Roncin K 
Published: October 2024

Abstract

Introduction/Objective
Eosinophilic gastroenteritis (EGE) is a rare inflammatory condition affecting the gastrointestinal tract, initially described by Kaijser et al. in 1937. It manifests as eosinophil-rich infiltration throughout the GI tract, often accompanied by peripheral eosinophilia. EGE is categorized under eosinophilic gastrointestinal disorders (EGIDs), alongside eosinophilic esophagitis (EOE) and eosinophilic colitis (EC). Symptoms vary based on the affected GI segment. This report aims to present a case of extensive EGE in a young male patient and review of similar cases to enhance clinical and histopathologic understanding.

Methods/Case Report
A 29-year-old male presented with abdominal pain, nausea, vomiting, and recent weight loss. He had a history of similar abdominal symptoms for a few years. Previous extensive investigations were inconclusive. Current imaging revealed soft tissue nodules, mild splenomegaly, and biliary dilation. Laboratory tests showed no significant abnormalities. Endoscopy revealed a gastric antral ulcer with marked eosinophilic infiltration on microscopy.

Results (if a Case Study enter NA)
NA

Conclusion
Eosinophilic gastroenteritis is an uncommon disease that presents with variable non-specific symptoms which require a high level of suspicion for diagnosis. EGE diagnosis requires excluding other causes of eosinophil accumulation. There is no clear distinction between the upper normal and abnormally increased eosinophils in GIT biopsies. Peripheral eosinophilia is common, along with other abnormal laboratory findings. Diagnosis relies on histopathology due to nonspecific symptoms. Clinicians and pathologists face challenges in diagnosing EGE, emphasizing the importance of considering it in the differential diagnoses.
Efforts to establish diagnostic criteria for EGE are limited, despite its long-known existence. The condition’s vague symptoms necessitate a high level of clinical suspicion, with diagnosis primarily based on histopathologic features.