The findings reiterate that IHC HER-2 equivocal cases are a heterogeneous group and need FISH for further categorization. Low concurrence (25%) rate between both IHC and FISH results in the equivocal scenario can be attributed to tumors with polysomy 17 and HER-2/neu genetic heterogeneity.
Introduction: The diagnosis of Ewing sarcoma family of tumours (ESFT) is challenging, especially in adults and in extra-skeletal or visceral location. Several morphologic mimics with varied treatment options and prognosis confer diagnostic dilemmas. Application of ancillary diagnostic modalities in surgical pathology in clinical routine has enabled accurate diagnosis of ESFT in bone, soft tissues, and viscera. Aim: The study aims to assess the clinicopathological features including molecular test results of ESFT with emphasis on sex, age, and location, especially extra-skeletal soft tissue and visceral location. Material and Methods: Data of clinicopathological, molecular tests (wherever performed), diagnosis rendered in 302 ESFT over a decade from our centre were reviewed. Statistical comparison of skeletal and extra-skeletal tumours with reference to age and sex was done using SPSS package. The P value of <.05 was considered significant. Results: The cohort included 302 ESFTs with 49% skeletal and 51% extra-skeletal tumours. Thigh was most common site among skeletal tumours; chest wall, paraspinal location, and retroperitoneum among soft tissues (39.4%); and kidney, ovary, and cervix among visceral tumours (11.3%). Fluorescence in situ hybridisation for EWSR1 gene rearrangement was positive in 54 patients and reverse-transcriptase polymerase chain reaction in 19 patients. Predominance of male sex, younger age and location in extremities among skeletal tumours and lack of gender predilection, higher age and axial location in extra-skeletal tumours were noted, which were statistically significant. Molecular tests were performed more frequently in extra-skeletal tumours, especially in visceral tumours to establish the diagnosis. Conclusions: The study showed statistically significant differences in the age, sex, and location between skeletal and extra-skeletal ESFT. The increased percentage of extra-skeletal tumours especially in viscera was attributed to the increased awareness and availability of ancillary techniques.
Objective: Molecular genetic analysis of FLT3, NPM1, and CEBPA is already the standard of care in patients with acute myeloid leukaemia (AML) and represents the most frequent genetic alterations and important diagnostic and prognostic indicators. This study was undertaken to determine the frequency of FLT3 and NPM1 gene mutations in our institution and to characterize the association between gene mutations and haematological parameters as well as immunophenotypic features.
Material and Method:Morphological, haematological and immunophenotypic characteristics of NPM1 and FLT3 mutations in 126 patients of de novo AML including adults and children were studied. Apart from the French American British (FAB) method for classification, blasts were assessed for cuplike morphology as per strict definition for cuplike nuclei, ≥10% blasts with nuclear invaginations ≥25% of the nuclear area.Results: FLT3 mutation in 31/126 (25%) and NPM1 mutation was found in 17/126 (13.4%) of the AML patients. 6 (5%) samples were positive for both NPM1 and FLT3/ITD mutations. Associations between the FLT3 and NPM1 gene mutations with haematological and immunophenotypic characteristics are reported.
Conclusion:The results suggest that presence of distinct morphology and haematological and immunophenotypic characteristics together may serve as important indicators and surrogate for NPM1 and FLT3/ITD mutations. Further, comprehensive studies on the biological effects of NPM1 and FLT3/ITD mutations and their interactions with other genetic alterations are needed to gain insight into the molecular mechanism of these mutations involved in the pathogenesis of AML.
The occurrence of multiple malignancies in the same patient being synchronous or metachronous is a rare event. The incidence of multiple malignancies varies with age, sex, geographic origin, and site and type of tumors. The pathogenetic etiology may be multifactorial and include genetic predisposition, immunodeficiency, radiation therapy, chemotherapy and various infectious agents. It is crucial to recognize synchronous malignancies because course of treatment and management is difficult. The synchronous occurrence of pulmonary squamous cell carcinoma and ileal diffuse large B-cell lymphoma (DLBCL) is not reported in the Indian medical literature until today; hence, we publish this case for its rarity.
Adult T cell lymphoma/leukemia is a peripheral T-cell neoplasm caused by human T-cell lymphotrophic virus-1, affects mostly adults with systemic involvement and poor prognosis. Diagnosis of adult T-Cell leukemia/Lymphoma is challenging. The clinico-pathologic and immuno-phenotypic features of the three cases will be presented.
Plasmablastic lymphoma (PBL) is a rare aggressive neoplasm characterized by diffuse proliferation of large neoplastic cells with plasma cell immunophenotype. Cell of origin of PBL is believed to be a postgerminal center B-lymphocyte or plasmablast. The malignant cells in PBL usually do not express CD20 (B cell marker) but do express markers of plasmacytic differentiation, such as CD38, CD138, or MUM1/IRF4, akin to plasma cell myeloma (PCM). PBL though originally described in the oral cavity, has now been found to occur in extraoral locations as well. Small intestine as a site of PBL has been described very rarely. PBL remains a diagnostic challenge given its overlapping morphologic and immunophenotypic features with other high grade lymphomas and PCM. We report a rare case of PBL of small intestine in a 48 years old HIV infected male patient. To the best of our knowledge this represents sixth case in the literature described in this location. An unusual rare pattern of CD138 positivity by IHC is also reported along with extensive review of literature of PBL in extraoral locations. /L. CECT scan of abdomen revealed circumferential diffuse wall thickening of jejunal loop and enlarged mesenteric lymph nodes (Fig. 1). After preoperative evaluation he underwent explorative laparotomy, resection of small bowel with end to end anastomosis and omentectomy.
Case ReportScreening tests for HIV I & II done by enhanced chemiluminescence method were reactive with test values being 85.1 (C1.0 reactive, gray zone 0.9-0.99,\0.9 non reactive). Absolute CD3, CD4 and CD8 counts and percentages were assessed by flow cytometry (FCM) technique as showed in Table 1. Serum LDH and Uric acid levels were 702U/L (normal range 208-320U/L) and 4.7 mg/dl (normal range 3.5-7.2 mg/dL). Human immunodeficiency virus (HIV)-viral load as estimated by RT-PCR was 1,536,000 copies/ml (lowest limit of detection 40 copies/mL). Patient underwent explorative laparotomy, resection of small bowel, end to end anastomosis and omentectomy.We received a segment of small intestine measuring 55 cm in length. On cutting open, an ulceroproliferative lesion measuring 7.5 9 3 9 1.5 cm was identified. The lesion was involving the intestine circumferentially. Corresponding serosal surface was irregular. The fat along mesenteric border appears involved. Omentum measured 35 9 5 9 2 cm and showed firm grey white areas.Microscopic examination showed a tumor composed of large to intermediate sized lymphoid cells in sheets infiltrating the full thickness of bowel wall extending into adjacent fat with serosal involvement. The cells were large with round nuclei with small to prominent nucleoli and scanty cytoplasm ( Fig. 2A). Some cells showed plasmacytoid morphology.
Acute myeloid leukemia (AML) is a heterogeneous disorder characterized by specific morphology, immunophenotype and genetic rearrangements. Multiple recurrent chromosomal aberrations have been identified by conventional cytogenetic analysis, which are now widely recognized as one of the most important diagnostic and prognostic determinants in AML. Here, we present a case with unusual cytogenetics, which has been described in very few patients.
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