Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms

• DOI: 10.1371/journal.pone.0212228
• Publication Date: 2019-03-06T18:35:30Z
• Authors: Borahm Kim; Hyeonah Lee; Jieun Jang; Soo-Jeong Kim; Seung-Tae Lee; June-Won Cheong; Chuhl Joo Lyu; Yoo Hong Min; Jong Rak Choi
• Keywords: Sanger sequencing

The 2016 World Health Organization classification introduced a number of genes with somatic mutations and category for germline predisposition syndromes in myeloid neoplasms. We have designed comprehensive next-generation sequencing assay to detect mutations, translocations, single evaluated its clinical utility patients Extensive specified bioinformatics analyses were undertaken nucleotide variations, FLT3 internal tandem duplication, genic copy chromosomal variations. This enabled us maximize the assay, we concluded that, as it can be good supplement many conventional tests, including Sanger sequencing, RT-PCR, cytogenetics. Of note, found that 8.4–11.6% acute leukemia 12.9% myeloproliferative neoplasms had most heterozygous carriers autosomal recessive marrow failure syndromes. These often did not respond standard chemotherapy, suggesting may distinct significant implications.