bluuebunny/crossref_metadata_2025 huggingface dataset:
Diffuse meningeal melanocytosis – a silent culprit
Authors: Miller L J , Pang J C
Published: October 2024

Introduction/Objective

Diffuse meningeal melanocytosis is a rare melanocytic proliferation that poses significant risk of severe hydrocephalus and mortality among children and young adults. Although the clonal melanocytes do not typically exhibit malignant morphological features, their capability for extensive invasion and malignant-like behavior necessitates tissue biopsy alongside immunohistochemical and molecular testing for definitive diagnosis.

Methods/Case Report

A 17-year-old male presented with progressive headaches, photophobia, and nausea, initially attributed to migraines. Neuro-opthalmological assessment revealed papilledema, leading to a diagnosis of idiopathic intracranial hypertension. Serial imaging showed fluctuating leptomeningeal enhancement and moderate communicating hydrocephalus without parenchymal lesions. Therapeutic lumbar punctures provided modest symptom improvement; increased opening pressure was observed. Evaluation of seven CSF specimens showed low glucose levels, increased cellularity consisting of bland appearing epithelioid cells of unknown etiology, and increased lymphocytes. Infectious causes were excluded. Due to the indeterminate CSF findings, discussion between the cytopathologist and neuro-opthamologist was crucial to facilitate tissue biopsy to exclude a neoplastic process.

Subsequent shunt placement and cerebral cortex biopsy revealed neoplastic cells with sheet-like architecture coating the dura without overt brain invasion. The tumor cells had eosinophilic cytoplasm without pigment and enlarged nuclei with irregular contours, vesicular chromatin, and prominent nucleoli. No high-grade features were seen.

Immunohistochemical stains were positive for MART1, HMB45, and PRAME, consistent with a melanocytic lesion. FISH melanoma panel was negative. The final diagnosis was diffuse meningeal melanocytic neoplasm, most consistent with meningeal melanocytosis. The patient received chemotherapy with improved symptoms and stable disease.

Results (if a Case Study enter NA)

NA

Conclusion

Diffuse meningeal melanocytosis is a challenging cytologic diagnosis as melanocytes can morphologically mimic lymphocytes and monocytes, and the low cellularity of CSF specimens often results in insufficient cell blocks for ancillary tests. The direct communication of the pathologist with the clinical team to correlate pathology, radiology, and clinical symptoms was essential to ensure the proper management of this patient.
CK20-negative Merkel Cell Carcinoma with Concomitant Squamous Cell Carcinoma In-Situ and Metastasis to the Parotid Gland
Authors: Mortazie M
Published: October 2024

Introduction/Objective

This report presents a patient with an aggressive CK20-negative neuroendocrine tumor of the dermis with metastasis to the parotid gland and a concomitant squamous cell carcinoma in-situ (SCCIS) and highlights diagnostic challenges of CK20-negative tumors.

Methods/Case Report

A centennial female with a history of non-melanoma skin cancer and leukemia presented to the dermatology clinic with a one-year history of an enlarging skin lesion on her right cheek and a subcutaneous mass on the right central lateral neck. On examination, the lesion appeared as a rough and raised red papule with a central crust.

On CT, a large heterogeneously enhancing right parotid mass with surrounding satellite nodules, adjacent necrotic adenopathy, and an ulcerating subcutaneous mass in the adjacent right face. An incidental 3 mm right upper lobe nodule was identified.

The pathology report noted two distinct malignant neoplasms within the specimen. Microscopy revealed ulceration with acanthosis and full thickness keratinocyte atypia, suggesting Bowen’s disease. On microscopic examination of the separate dermal tumor, there were sheets of uniform small cells with a high nuclear to cytoplasmic ratio and scant cytoplasm.

IHC staining was positive for the neuroendocrine markers AE1/AE3, CAM5.2, synaptophysin, and CD56. CK20, CK7, and TTF-1 were negative. As some MCC may be negative for CK20, CK20 was performed twice. Differential diagnoses included SCCIS with CK20-negative MCC versus a metastatic neuroendocrine carcinoma of parotid gland to the skin. The patient transitioned to hospice care soon after the diagnosis.

Results (if a Case Study enter NA)

NA.

Conclusion

Our patient presents with an interesting case of a CK20-negative MCC with metastasis to the parotid gland. Since CK20 was stained negative twice, it complicated the diagnosis of MCC vs. small cell carcinoma. We suspected a more likely diagnosis of MCC metastasis to the parotid gland due to multiple reported cases (Day et al. 2016). Our patient also had an identifiable Bowen’s disease borderline to the neuroendocrine carcinoma. It is well known of the coexistence of MCC and squamous cell carcinoma in a cutaneous lesion (Suaiti et al. 2019). Thus, a metastatic MCC to the parotid gland is more likely in this case.

As MCC is an aggressive cancer that metastasizes quickly, accurate diagnosis is crucial. With recent literature reporting the association of CK20-negativity with VN-MCC, and the presence of UV signature mutations in CK20- negative MCC, genomic screening would be a useful diagnostic tool.
An idiosyncratic reaction to the synthetic biologic membrane on a surgical wound
Authors: Iqbal S , Raja F , Cai D
Published: October 2024

Introduction/Objective

Biodegradable temporizing matrix (BTM) is a synthetic polymer used to temporarily close wounds and aid the body in generating new tissue. BTM is applied to a debrided wound.BTM acts as a scaffold aiding the migration of granulation tissue into the matrix. Once the tissue is fully integrated throughout the BTM, the sealing membrane is removed. The matrix slowly deteriorates until fully absorbed at approximately 18 weeks.

Methods/Case Report

An 80-year-old woman with a past medical history of eczema, rheumatoid arthritis and gout presented with swelling of the left third metatarsal. Imaging showed an abscess which was eventually drained and cultured to show mycobacterium chelone. The patient was started on antibiotics for mycobacterium. On follow up she reported a nodule on left forearm recently increased in size. MRI on 9/28 showed abscess of the dorsal aspect of phalanx. She underwent surgical debridement 10/31 on her finger and the forearm nodule. After debridement a polynovo BTM graft was placed. Histopathology showed skin and subcutaneous tissue with necrotizing granulomas of the finger and the forearm. Cultures and stains for mycobacterium returned negative.The patient was subsequently followed up for wound healing. She reported nodules on the left forearm at the scar from previous surgical site which were biopsied. Histopathology showed granulomatous inflammation, rare foreign body giant cells, and birefringent material. The stains for Ziehl-Neelsen, Fite and Gomori’s Methenamine Silver for Urate Crystals were all negative excluding the possibility of gouty tophi or mycobacterium.

Results (if a Case Study enter NA)

NA

Conclusion

The complex history of the patient with mycobacterium, gout, the giant cell reaction and the unique appearing birefringent crystals presented a puzzling problem. Given the negative stain results for mycobacteria and the presence of birefringent (foreign) material, we deem these granulomas most likely an idiosyncratic reaction to the synthetic biologic membrane applied during her prior procedure. There are no known cases of giant cell reaction and similar morphology of birefringent (foreign) material in literature.
Molecular Scarring in Relapsing Psoriasis: Crosstalk of Keratinocytes and Immune Cells
Authors: Hatami P , Nicknam Asl H , Aryanian Z , Hatami D , Homayouni M , khayyat A
Published: October 2024

Introduction/Objective

Psoriasis is a chronic skin disorder with a tendency for relapse, characterized by immune- mediated mechanisms leading to papulosquamous lesions. Despite advances in treatment, many patients experience relapse, particularly in previously healed areas, referred to as “molecular scarring.” This scarring suggests a complex interaction between keratinocytes and immune cells, including tissue-resident memory T cells (TRMs), cytokines, and epigenetic modifications, contributing to the pattern-specific recurrence of psoriasis.

Methods/Case Report

After reviewing 31 articles on PubMed, we focused on the immunopathogenesis of psoriasis, examining the role of TRMs, the balance between regulatory T cells (Tregs) and Th17 cells, and the impact of various treatment modalities on disease recurrence. It evaluates the expression of TRM markers and the effectiveness of treatments such as anti-IL-17 agents and phototherapy in altering disease progression. The study also explores the genomic characteristics of psoriatic lesions post-treatment and the duration of clinical remission associated with different therapeutic approaches.

Results (if a Case Study enter NA)

The findings demonstrate a significant role of TRMs in psoriasis relapse, with environmental triggers reactivating these cells and leading to the production of inflammatory cytokines. Treatments targeting IL-17 showed a rapid decrease in TRM markers, particularly in the dermis, and were associated with different durations of disease remission based on the therapeutic approach. The study also found that the genomic profile of treated lesions does not fully normalize, with variations in gene expression linked to the type of treatment and possibly influencing the size of the molecular scar and relapse duration.

Conclusion

Psoriasis relapse is intricately linked to the presence of TRMs and the molecular scarring of previously healed lesions, influenced by various treatment modalities. The study underscores the importance of targeting TRMs and adjusting therapeutic strategies to extend the period of clinical remission and prevent the transition to more severe disease forms. Future research should focus on elucidating the detailed mechanisms of psoriasis relapse and developing targeted treatments to normalize the genomic profile of healed skin, ultimately improving patient outcomes and management of the disease.
Parathyroid carcinoma: molecular pathology and correlation with clinicopathologic features, a single center experience
Authors: Wadhawan A , mehta V , Bajaj U
Published: October 2024

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 (276-2500). 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

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% [<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

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

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>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<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>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>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

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

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

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

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

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.
Pulse Granuloma in Esophagus; A Rare finding in Achalasia Patient: Case Report and Literature Review
Authors: Yeon S , Sonawane S S
Published: October 2024

Introduction/Objective

Pulse granuloma is a granulomatous reaction to foreign body, most commonly to food material. This is clinically silent and incidental but may be confused for a mass like lesion. This can be found any location in gastrointestinal tract but most reported in oral cavity and colon. We herein report a rare case of pulse granuloma in esophagus with literature review of the entity.

Methods/Case Report

A 58-year-old male with history of achalasia, surgical history of Heller myotomy, hernia reduction, hiatoplasty, gastropexy, vagotomy, presented with recurrent stricture of the esophagogastric junction. The patient received multiple esophageal balloon dilatations in the past due to high esophageal sphincter pressure and was complicated by severe reflux associated with esophagitis and large hiatal hernia. He underwent subtotal esophagectomy due to dysphagia. Gross examination of the esophagectomy specimen showed multiple previous procedure scars and was opened to reveal firm yellow food particles impacting in the mucosa. Histological examination showed gastroesophageal junctional mucosa with ulceration and fibrosis of the muscularis propria. Pink ribbon like hyalinized foci with giant cell was found which stained negative for GMS, PAS and AFB, supporting the diagnosis of pulse granuloma. Literature search for key word ‘Pulse Granuloma’ identified thirty-five case reports from year 1977 to 2024, with most reported case in the oral cavity (14 cases, 42%). Out of ten cases reported in gastrointestinal tract, 1 case was reported in small bowel and 9 cases were reported in colon and rectum and no cases were reported in esophagus.

Results (if a Case Study enter NA)

NA

Conclusion

Our patient’s history of achalasia and dysphagia along with histopathologic findings supports diagnosis of pulse granuloma in esophagus. Although clinically silent, pulse granuloma may cause mass-like lesions and result in enlargement and stenosis. In setting of esophageal achalasia recognizing this entity is important as it can mimic malignancy and other mass-forming lesions.
Analysis of the Efficacy and Prospects for Application of Olorparib and Dabrafenib in Liver Cancer Treatment
Authors: Huang C , Tang C
Published: October 2024

Introduction/Objective

To evaluate the effectiveness of Olaparib and Dabrafenib in the treatment of liver cancer and explore their potential prospects for future applications.

Methods/Case Report

A comprehensive analysis of relevant literature on Olaparib and Dabrafenib in the treatment of liver cancer was conducted, including clinical trials, case studies, and previous meta-analyses. Key indicators such as treatment efficacy, adverse reactions, and patient survival rates were examined.

Results (if a Case Study enter NA)

In patients treated with the two drugs, the proportion of AFP decreased was 60.24% and 65.87%, the proportion of serum ferritin decreased was 50.25% and 53.39%, the proportion of CT tumor abbreviations was 52.13% and 58.89%, and the effective rate was 38.14% and 40.02%, respectively. There was no significant difference between the two drugs (P > 0.05). Survival analysis showed that the median progression-free survival was 10.7 and 12.3 months, respectively, and the median overall survival was 17.6 and 20.1 months, respectively. The incidence of adverse events including fever, fatigue, chills, nausea and rash was 23.14% and 28.56%, respectively, and there was no significant difference between the two drugs (P > 0.05).

Conclusion

Olaparib and Dabrafenib demonstrate significant efficacy in the treatment of liver cancer, offering new therapeutic options for patients. The application prospects of these drugs are promising, and they are expected to become crucial components in liver cancer treatment. Further research and clinical practice will contribute to a more comprehensive understanding of their mechanisms of action, optimization of treatment regimens, and improvement of the overall quality of life for liver cancer patients.
Isolated Perianal Langerhans Cell Histiocytosis in a Human Immunodeficiency Virus-Positive Adult: A Rare Incidental finding
Authors: Salibindla D , Sakaleshpura Mallikarjuna V , Sharma D
Published: October 2024

Introduction/Objective

Langerhans cell histiocytosis (LCH) is a rare disorder characterized by abnormal proliferation of antigen-presenting cells, primarily Langerhans cells. Although it commonly affects bones, skin, and lungs, involvement of the gastrointestinal tract is rare. Specifically, isolated perianal LCH is exceptionally uncommon, with only a few documented cases reported in the literature. Here, we report a case of incidental perianal LCH in an adult HIV patient, highlighting the exceptional rarity and clinical importance of this occurrence.

Methods/Case Report

A 56-year-old Caucasian male with HIV underwent surgical resection of a 0.5 x 0.4 x 0.3 cm verrucous lesion on the posterior anal margin. His past medical history included granulomatous lymphadenitis, penile warts, and anal dysplasia. Microscopic examination of the excised tissue revealed Langerhans cells with characteristic features, including abundant eosinophilic cytoplasm and irregular nuclear membranes (resembling “coffee-bean” or “folded paper” appearance). Immunohistochemical analysis confirmed the diagnosis by demonstrating positivity for CD1a, S100, and CD68. The BRAF mutation was evaluated on the same paraffin-embedded block, which revealed the lack of the mutant BRAF V600E. PET-CT imaging showed no evidence of metastatic disease, emphasizing the isolated nature of the perianal LCH in this patient.

Results (if a Case Study enter NA)

NA

Conclusion

This case highlights the significance of recognizing and thoroughly evaluating rare and incidental conditions such as LCH in HIV patients. Our findings emphasize the importance of maintaining a high index of suspicion for LCH among healthcare providers and ensuring proper follow-up to rule out systemic involvement. Furthermore, there is a need for future studies to investigate the correlation between LCH and HIV. Given its rarity and diverse clinical presentation in immunocompromised individuals, a multidisciplinary approach, tailored treatment plans, and long-term surveillance with imaging modalities like PET/CT are essential for effectively managing adult-onset isolated LCH.
Anti-tissue transglutaminase antibody correlation with severity of villous abnormalities in celiac disease: A Systematic Review and Meta-analysis
Authors: Aljohani R , Saharti S , Alharbi L , Aldhahri S , Alalyani W , Aljohani Y
Published: October 2024

Introduction/Objective

Celiac disease (CD) is a long-term autoimmune disorder that affects individuals genetically predisposed to gluten intolerance. Biomarkers, particularly anti-tissue transglutaminase antibody (anti-tTG ab), are crucial in indicating disease states and have potential as non-invasive substitutes for mucosal biopsies in assessing the severity of intestinal damage. This study aims to systematically review and analyze the correlation between anti- tTG antibody levels and the severity of villous abnormalities in patients with celiac disease to evaluate the potential of anti-tTG as a non-invasive diagnostic tool.

Methods/Case Report

Following PRISMA guidelines, a comprehensive literature search selected 15 studies focusing on the correlation between anti-tTG antibodies and villous atrophy. Systematic data extraction and quality assessments were performed, followed by statistical analyses to determine the strength and consistency of associations.

Results (if a Case Study enter NA)

Analysis of data from four studies on anti-tTG antibody positivity revealed a nearly significant pooled effect size (p = 0.06) with considerable heterogeneity (I^2 = 97%, p < 0.00001). Additionally, data from five studies using the MARSH classification of histological damage, aggregated using a random-effects model, showed overall statistical significance (Z = 3.36, p = 0.0008).

Conclusion

Anti-tTG antibodies serve as a reliable indicator of villous damage in CD, supporting their dual utility in diagnosis and monitoring. High anti-tTG antibody titers could potentially eliminate the need for invasive biopsy procedures in certain patient subsets, underscoring the promise of more refined and non-invasive diagnostic approaches, although further research is needed to address the implications of high heterogeneity observed in the studies.
Histopathological Characteristics and Distinction of Immune Checkpoint Inhibitor-Related Colitis
Authors: Sun B
Published: October 2024

Introduction/Objective

Immune checkpoint inhibitors (ICPIs) represent a groundbreaking class of cancer immunotherapy for patients with various advanced-stage solid cancers. ICPIs have been associated with immune- related adverse events, with ICPI-related colitis being a prominent concern due to its potential for life-threatening clinical complications. Recognizing the histopathologic characteristics specific to ICPI-related colitis is crucial for pathologists to provide an accurate diagnosis. Here we have collected and analyzed colon biopsies from patients with ICPI-related colitis following treatment of ICPIs to identify its distinctive histopathologic features and differentiate it from other colitis.

Methods/Case Report

Colon biopsies are collected from patients with ICPI-related colitis after receiving CTLA-4 and PD-L1 inhibitors as treatment for advanced melanoma. Histopathological features, including epithelial mucin depletion, enterocyte apoptosis, basal lymphoplasmacytosis, cryptitis, glandular architectural distortion, and granuloma, are compared with those in other colitis including ulcerative colitis, Crohn’s disease, microscopic colitis, ischemic and infectious colitis. Immunohistochemistry is employed to analyze inflammatory cell populations and specific enterocyte subtypes.

Results (if a Case Study enter NA)

ICPI-related colitis, following treatment with Ipilimumab and Nivolumab, commonly presents as active colitis, either with or without chronic colitis. Less frequently, it manifests as microscopic colitis, infectious or ischemic colitis. The acute active form of ICPI-related colitis resembles acute colitis in infectious or ischemic colitis; however, prominent enterocyte apoptosis and intraluminal apoptotic debris are relatively unique features to ICPI-related colitis. The chronic active form of ICPI-related colitis resembles inflammatory bowel diseases, particularly Crohn’s disease, but ICPI-related colitis exhibits an inflammatory injury more affecting surface mucosa and less basal lymphoplasmacytosis. Notably, the most distinctive feature of ICPI-related colitis is the depletion of specific mucinous epithelium observed in our cohort.

Conclusion

Recognizing specific histopathologic features of ICPI-related colitis, such as mucinous epithelial depletion, enterocyte apoptosis, and surface-dominant inflammation, are essential for pathologists in accurately diagnosing and distinguishing this disease to ensure proper clinical management for patients receiving ICPI treatment.
Rectal Schistosomiasis and Adenocarcinoma
Authors: Sakaleshpura Mallikarjuna V , Salibindla D , Sharma D
Published: October 2024

Introduction/Objective

Schistosoma infestation has been implicated by the International Agency for Research on Cancer as an etiology for several cancers such as colon, liver, and bladder. S. japonicum is classified as a probable carcinogen in humans (class 2B). These trematodes may cause chronic infection in the affected organ leading to the trend of “inflammation-adenoma-carcinoma”. There is rising evidence that infection with Schistosoma japonicum is correlated with the liver and colorectal carcinoma in endemic Asian countries. We herein present a case of rectal adenocarcinoma associated with Schistosoma as a possible causal factor.

Methods/Case Report

An 88-year-old-woman from China, currently living in United States for past six years, presented with rectal bleeding. Colonoscopy showed evidence of a rectosigmoid mass 2.2 x 1.0 x 0.3 cm. She underwent trans-anal excision of the tumor. Microscopic examination showed moderately differentiated adenocarcinoma with tumor invading the muscularis propria (pT2). There were numerous oval / round calcified eggs (30 - 46 microns) with minute subterminal or no spine morphologically consistent with Schistosoma japonicum associated with granulomatous and foreign body giant cell reaction, fibrosis, and tissue eosinophilia. She was treated with Praziquantel and is currently undergoing endoscopic surveillance for recurrence.

Results (if a Case Study enter NA)

N/A

Conclusion

Patients with chronic Schistosoma japonicum infection have 3 times increased risk of developing colorectal cancer than those with no previous exposure to schistosomal infection. We believe that chronic S. japonicum infection is the likely etiology of rectal cancer in our patient. Physicians should be aware of such associations, especially for immigrants from endemic areas, to facilitate accurate diagnosis and management.
From Insight to Impact: Improving Mesorectal Evaluation Standards through Resident Educational Intervention
Authors: Kiran F , Kumar D , Rao D
Published: October 2024

Introduction/Objective

The completeness of total mesorectal excision (TME) and involvement of the circumferential radial margin (CRM) significantly impact local recurrence and survival rates in rectal cancer. Accurate gross examination to assess mesorectal status is crucial, not only for patient prognosis but also for evaluating surgical quality.

Methods/Case Report

We implemented a quality assurance initiative to enhance mesorectal quantification and CRM assessment by pathology trainees. Low anterior resection specimens received between January 2022 and December 2023 were included, with 2022 as the pre-intervention period and 2023 post-intervention. In December 2022, an educational session was conducted, emphasizing rectal resection specimens’ types and the importance of mesorectal and CRM assessment. Periodic reminder emails reinforced these concepts.

Results (if a Case Study enter NA)

We identified a total of 35 cases in the study: 20 pre-intervention arm and 15 post-intervention arm. Mesorectal quantification and CRM assessment and documentation improved significantly post- education, rising from 70% (14 of 20 cases) to 93% (14 of 15 cases) (p < 0.0001).

Conclusion

In conclusion, our study underscores the critical role of meticulous gross examination in assessing mesorectal status, serving not only as a prognostic indicator but also in guiding surgical precision and rectal cancer management. Further, our findings emphasize the transformative potential of education-driven interventions in enhancing the quality of mesorectal evaluation, reinforcing the pivotal role of pathologists and pathology trainees in shaping therapeutic strategies and ultimately improving rectal cancer patient care.