Immunohistochemical expression of perforin in adult systemic lupus erythematosus associated macrophage activation syndrome: Clinicohematological correlation and literature review.

OBJECTIVE: To study the bone marrow (BM) immunohistomorphological characteristics in adult systemic lupus erythematosus (SLE) associated macrophage activation syndrome (SLE-MAS). MATERIALS AND METHODS: Immunohistochemical (IHC) expression of CD3, CD8, perforin (PFN), and CD163 was studied on BM trephine biopsies from 30 cytopenic adult SLE cases (male: female = 1:5, age; 24 years, range; 19-32) and compared them with ten age matched controls. Clinicopathological parameters were compared among the cases likely (L) or unlikely (U) to have MAS using probability scoring criteria. The best cut off laboratory parameters to discriminate between the two were obtained through receiver operator curve (ROC) analysis. RESULTS: MAS occurred in 12/30 (40%) cases and was more commonly associated with prior immunosuppressive therapy (p = .07), ≥ 3 system involvement (p = .09), lower fibrinogen (p < .01), increased triglyceride (p = .002), increased BM hemophagocytosis (p = .002), and higher MAS score [185 (176-203) vs. 105 (77-119), p < .01] than MAS-U subgroup. Although PFN+CD8+ T lymphocytes significantly decreased among cases than controls (p < .05), it was comparable between MAS-L and MAS-U subgroups. Fibrinogen (< 2.4 g/L, AUC; 0.93, p < .01), hemophagocytosis score (> 1.5, AUC; 0.71, p = .03), and an MAS probability score of ≥ 164 (AUC; 1, p < .01) discriminated MAS from those without MAS. CONCLUSION: We noted a decrease in perforin mediated CD8 + T cell cytotoxicity in SLE. Immunohistochemical demonstration of the same along with histiocytic hemophagocytosis on BM biopsy may be useful adjunct in early diagnosis and management of MAS in SLE.

Alpha-fetoprotein producing gastric cancer with divergent differentiation: Report of a rare case with review of literature.

ABSTRACT: Alpha-fetoprotein-producing gastric cancer is a rare variant of gastric adenocarcinoma. This tumor is likely to be misdiagnosed, particularly in patients with liver metastasis. This rare subgroup of gastric carcinoma may show divergent differentiation on histology and may pose a diagnostic challenge to the pathologist. They have an aggressive course with a dismal prognosis.

Endoscopic ultrasound (EUS) elastography-guided fine-needle aspiration cytology (FNAC) versus conventional EUS FNAC for solid pancreatic lesions: A pilot randomized trial.

BACKGROUND: Endoscopic ultrasound guided fine-needle aspiration (EUS FNA) is the first-line modality to diagnose suspected solid pancreatic malignant lesions. Elastography-guided FNA has been shown to improve the diagnostic yield of EUS FNA but prospective studies are limited. The aim of the study was to compare diagnostic accuracy, sensitivity and specificity of conventional and elastography-guided EUS FNA in patients with suspected malignant pancreatic solid masses. METHODS: Patients with suspected malignant solid pancreatic lesions presenting to our institute from July 2021 to January 2023 were recruited and randomized to conventional and elastography-guided EUS FNA using a 22-G EUS FNA needle. Diagnostic accuracy, sensitivity, specificity and positive and negative predictive values were calculated. RESULTS: Total 48 patients were initially screened for inclusion in the study, of which six were excluded and 42 patients underwent randomization. Finally, 20 patients in each group underwent the assigned intervention and were analyzed further. Baseline patient characteristics were similar in conventional FNA and elastography-guided FNA group with median age 52 (range 29-74) years and 51.8 (range 31-72) years, respectively, males being 70% and 75%, respectively. Median size of the lesion was 34 mm (range 14-48 mm) and 37 (range 18 to 50 mm), respectively, for both conventional and elastography arm. The average size of the lesion was 35.7 mm. Overall, the diagnosis of adenocarcinoma was made in 65% of cases. In the remaining cases, diagnoses were inflammatory mass, Castleman's disease, solid pseudopapillary epithelial neoplasm (SPEN), diffuse large B-cell lymphoma (DLBCL), pancreatic gastrointestinal stromal tumor (GIST) and metastasis. Conventional EUS FNA had diagnostic accuracy, sensitivity, specificity and positive and negative predictive values of 90%, 87.5%, 100%, 100% and 62.92%, respectively, and elastography-guided EUS FNA had diagnostic accuracy, sensitivity, specificity and positive and negative predictive values of 85%, 100%, 100% and 54.59%, respectively. No severe adverse events were noted. CONCLUSION: There is no significant difference between conventional and elastography-guided EUS FNA in terms of diagnostic accuracy, sensitivity, specificity and positive and negative predictive values. Both techniques appear safe and effective for characterizing solid pancreatic masses and elastography did not score numerically over the conventional arm.

Core-binding factor abnormalities involving chromosome 16 in acute myeloid leukaemia: prognostic and therapeutic implications.

Core-binding factor (CBF) abnormality-associated myeloid neoplasms incorporate acute myeloid leukaemia (AML) (CBF-AML) with translocation t(8;21)(q22;q22.1) (AML1/ETO fusion) and inv(16)(p13.1q22) or translocation t(16;16)(p13.1;q22) (CBFB/MYH11 fusion) abnormalities which confer a favourable prognosis following cytarabine-based induction chemotherapy. Accumulating evidence from the molecular studies have stratified CBF-AML into favourable and unfavourable subgroups based on the associated cooperating mutations that impact the outcome. We describe a case of acute myelomonocytic leukaemia with abnormal eosinophils (M4Eo) in a woman in her 20s who was found to have CBFß/MYH11 fusion along with mutated c-KIT (exon 17) and KRAS (exon 2) genes by next-generation sequencing. She had an aggressive clinical course following initiation of cytarabine-based induction chemotherapy. The underlying mutational landscape may significantly influence the biological behaviour of otherwise favourable risk of CBF-AML cases.

Pediatric primary extra-ovarian Sertoli Leydig cell tumor of the retroperitoneum.

Ovarian Sertoli Leydig cell tumors (SLCT) accounts for less than 0.5% of all ovarian malignancies. The incidence of primary extra-ovarian SLCT is extremely rare with reported cases occurring in young adult women till now. We report case of primary retroperitoneal extra-ovarian SLCT in a seven-year girl child without any hormonal manifestation. She presented with complaint of left side abdominal swelling associated with intermittent pain for a duration of six months. CT scan revealed a huge retroperitoneal space-occupying lesion abutting the dorsal vertebrae and present posterior to pancreas, spleen and left kidney. The tumor was diagnosed as extraovarian Sertoli Leydig cell tumor with intermediate differentiation on histopathology and immunohistochemistry.

Hepatic Follicular Dendritic Cell Sarcoma with Epithelioid Morphology: Histopathologist's Perspective.

Follicular dendritic cell (FDC) sarcoma is an uncommon tumor of the liver with only 30 previous cases reported in the English literature. Histopathological examination is the gold standard for the diagnosis of FDC sarcoma although the diagnosis is often missed because of its rarity. It usually presents with spindle-cell morphology although epithelioid/biphasic morphology is also well-known. This morphological variation can also pose a diagnostic challenge. We discuss a case of unresectable hepatic FDC sarcoma in an adult male who was diagnosed in core biopsy. We highlight the relevant histomorphological differentials and diagnostic approaches to FDC sarcoma in this anecdote.

Second Primary Spindle Cell Carcinoma of the Tongue: A Rare Histology.

Spindle cell carcinoma (SpCC) is a rare variant of poorly differentiated squamous cell carcinoma (SCC), characterised by the presence of both squamous (carcinomatous) and spindle cell (sarcomatous) elements. Early detection and improvement in treatment for oral SCC lead to prolonged survival, thereby increasing the frequency of second primary tumours (SPTs) in the oral cavity. In this paper, we report a case of SpCC of the tongue in a 62-year-old male with a history of SCC; the right lateral border of his tongue status post-treatment completion four years ago, now presented with a polypoidal growth over the tip of his tongue for four months. An immunohistochemical study revealed features suggestive of SpCC (spindle cell pattern of cells, expression of vimentin, immunopositivity for cytokeratin (membranous), and focally positive for p40 (nuclear)). To the best of our knowledge, this is the first reported case of a spindle cell variant of SCC presenting as a second primary in an oral cancer survivor patient.

Squamous Metaplasia in a Borderline Phyllodes Tumor-an Undocumented Histological Finding in Male Breast: Report of a Case and Review of Literature.

Phyllodes tumor is a paradigm of fibroepithelial neoplasm that accounts for <1% of the breast neoplastic lesions usually detected in females and uncommonly in the male breast. The World Health Organization classifies the tumor into benign, borderline, and malignant based on the predefined morphological criteria. Squamous differentiation in phyllodes tumor is epithelial metaplasia, which has been occasionally documented in English literature. We report the first undocumented case of a recurrent borderline phyllodes tumor with cystic squamous metaplastic change in a 32-year-old male patient. The histology was that of a fibroepithelial neoplasm with the typical leaf-like projections and cystic spaces lined by squamous epithelium containing keratin debris. The purpose of presenting this case is to elucidate the pathogenesis and discuss other malignant and benign breast lesions that may be included in the differential diagnosis when evaluating a breast lesion with squamous metaplasia, particularly in the context of fine-needle aspirates.