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1.
Indian J Hum Genet ; 2012 Sept; 18(3): 369-372
Article in English | IMSEAR | ID: sea-145866

ABSTRACT

Acute myeloid leukemia with maturation (AML-M2) is associated with the 8;21 translocation. For the first time in an adult patient with AML-M2, a novel unbalanced translocation involving the short arm of chromosome 11 and long arm of chromosome18 with new breakpoints is presented. CD82 on band 11p11.2 and GATA 6 on 18q11.2 may play a role in the pathogenesis of de novo AML M2. The report with translocation (11;18)(p11.2;q11.2), as the sole cytogenetic abnormality provides more data on the leukemogenesis of de novo AML M2.

2.
Indian J Pathol Microbiol ; 2012 Jan-Mar 55(1): 92-96
Article in English | IMSEAR | ID: sea-142186

ABSTRACT

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.


Subject(s)
Adult , Blood Cells/cytology , Female , HTLV-I Infections/diagnosis , HTLV-I Infections/pathology , Histocytochemistry , Human T-lymphotropic virus 1/isolation & purification , Humans , Immunophenotyping , India , Lymphoma, T-Cell/diagnosis , Lymphoma, T-Cell/pathology , Male , Microscopy , Middle Aged
3.
Indian J Pathol Microbiol ; 2011 Jul-Sept 54(3): 532-538
Article in English | IMSEAR | ID: sea-142037

ABSTRACT

Introduction: HER-2/neu status determines the eligibility for targeted therapy with trastuzumab in breast carcinoma. Evaluation for HER-2/neu protein expression by immunohistochemistry (IHC) and gene amplification by fluorescence in situ hybridization (FISH) has become the gold standard. Aims: Since data on HER-2/neu assessment by IHC and FISH and studies regarding concordance between the results of the two techniques are limited, especially from India, we sought to study HER-2 gene amplification status by FISH in equivocal (2+) cases by IHC and also study aberrant signal patterns. Settings and Design: Mastectomies and breast core biopsies, equivocal for HER-2/neu protein expression, were analyzed for HER-2 amplification by FISH. Materials and Methods: IHC (DAKO) and FISH (PathVysion dual-probe system) tests were performed on 68 of 112 (after exclusion) 10% neutral buffered formalin (NBF)-fixed paraffin-embedded tissues and evaluated according to American Society of Clinical Oncology ASCO guidelines. Statistical Analysis Used: Chi-square (χ2 ) test and the two-tailed P value were applied using Graphpad Quickcels software, version 2006. Results: It was found that 73.5% of the IHC 2+ patients were negative for HER-2/neu amplification, 25% were positive (ratios ranging from 2.3 to 5.6) and 1 patient was equivocal (2.2). Retesting FISH HER-2 equivocal case on another tumor block by IHC demonstrated HER-2 overexpression of protein 3+, thus resolving the equivocal status. Polysomy and HER-2 genetic heterogeneity were seen frequently. Conclusions: The findings reiterate that IHC HER-2 equivocal cases are a heterogenous 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.


Subject(s)
Adult , Aged , Aged, 80 and over , Biopsy , Breast/pathology , Breast Neoplasms/diagnosis , Breast Neoplasms/pathology , Carcinoma, Ductal/diagnosis , Carcinoma, Ductal/pathology , Female , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence/methods , India , Mastectomy , Microscopy , Middle Aged , Pathology, Molecular/methods , Receptor, ErbB-2/genetics
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