Myelodysplastic syndromes (MDS) are heterogeneous groups of clonal myeloid disorders characterized by unexplained persistent peripheral blood (PB) cytopenia(s) of one or more of the hematopoietic lineages, or bone marrow (BM) morphologic dysplasia in hematopoietic cells, recurrent genetic abnormalities, and an increased risk of progression to acute myeloid leukemia (AML). In the past several years, diagnostic, prognostic, and therapeutic approaches have substantially improved with the development of Next Generation Sequencing (NGS) diagnostic testing and new medications. However, there is no single diagnostic parameter specific for MDS, and correlations with clinical information, and laboratory test findings are needed to reach the diagnosis.

E13628Background: The Philippines has the highest reported incidence of breast cancer (BC) in Southeast Asia, with a rate of 47.7 per 100,000 per year. 5 to 10% of BC results from a hereditary pred...

Article Citation: (2017) Abstracts and Case Studies From the College of American Pathologists 2017 Annual Meeting (CAP17). Archives of Pathology & Laboratory Medicine: September 2017, Vol. 141, No. 9, pp. e2-e191. https://doi.org/10.5858/arpa.2017-0238-AB

The presence of germline mutations in the BRCA1 or BRCA2 tumor suppressor genes are strong predictors of breast or ovarian cancer risk. Loss of the wild-type allele of BRCA1 or BRCA2 genes are required for tumorigenesis. This study identified and characterized the germline BRCA1 and BRCA2 mutation spectrum among Filipinos using Next Generation Sequencing. This is the first local study to perform comprehensive BRCA1 and BRCA 2 (all exons) mutational analysis among Filipinos. This study prompts further investigation of the unique variants to enable better understanding of the genetic predisposition to BC among Filipinos.