Current Role of Genetics in Hematologic Malignancies

Abstract

Rapidly changing field of genetic technology and its application in the management of hematological malignancies has brought significant improvement in treatment and outcome of these disorders. Today, genetics plays pivotal role in diagnosis and prognostication of most hematologic neoplasms. The utilization of genetic tests in deciding specific treatment of various hematologic malignancies as well as for evaluation of depth of treatment response is rapidly advancing. Therefore, it is imperative for practitioners working in the field of hemato-oncology to have sufficient understanding of the basic concepts of genetics in order to comprehend upcoming molecular research in this area and to translate the same for patient care.

Keywords: Genetics; Hematology; Molecular tests; Oncology.

Fig. 1

Karyogram shows diagnostic cytogenetic abnormality, t(9, 22) in a patient with chronic myelogenous leukemia (CML)

Fig. 2

Interphase FISH with a BCR/ABL D-FISH probe shows two fusion signals (arrows) in a Ph + cell. Fusion is represented by yellow color dot while non fused alleles are in green and red colors. (Color figure online)

Fig. 3

Gel photograph shows results of multiplex RT-PCR performed for BCR-ABL hybrid transcripts. Lanes P1 and P2 show positivity for BCR-ABL transcripts; PC positive control (b2a2); NC negative control; M marker (100-bp ladder)