Single Nucleotide Polymorphism-Based Noninvasive Prenatal Testing: Experience in India.

Introduction: Noninvasive prenatal testing (NIPT) has revolutionized prenatal screening for chromosomal aneuploidies in some countries. Its implementation has been sporadic in developing countries. Given the genetic variation of the people in different countries, we evaluated the performance of the SNP-based NIPT in India .

HER2/ Testing In 432 Consecutive Breast Cancer Cases using FISH and IHC - A Comparative Study.

Introduction: The development of trastuzumab, a HER-2/ targeted monoclonal antibody resulted in significant improvements in clinical response and survival in HER-2/ gene amplified group of patients. Thus, accurate assessment of HER-2/ status becomes critical. Fluorescence In Situ Hybridization (FISH) and Immunohistochemistry (IHC) are the most commonly used methods for this purpose and specific recommendations exist with regard to the concordance to be observed between the two tests.

CD34 positive-microgranular variant of acute promyelocytic leukemia in a child.

Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) in which abnormal promyelocytes predominate. APL is rare in children (approximately 10% of childhood AML) and is characterized by a higher incidence of hyperleukocytosis, an increased incidence of microgranular morphology, the presence of balanced t(15;17)(q22;q11.2-12) translocation, and more frequent occurrence of the PML-RARα isoforms bcr 2 and bcr 3 compared to adults.

Her-2/neu overexpression due to polysomy 17 in breast cancer: molecular testing to guide therapeutic options.

Background: Fluorescent in situ hybridization (FISH) equivocal results for Her-2/neu still pose a diagnostic dilemma in oncology practice. In this study, we evaluate if Her-2/neu mRNA expression is an alternative to FISH for detecting Her-2/neu positivity.

Patients And Methods: Archival paraffin blocks of 54 breast cancer patients were analyzed for Her-2/neu status using immunohistochemistry (IHC), FISH, and Her-2/neu gene expression using mRNA.