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.

Changing Times for the IJHBT

“…On one hand, they deliberate on how the advent of genomics and personalized medicine is revolutionizing the way we diagnose and manage hematological malignancies [1,2]. On the other, they remind us that good medicine is based on astute evaluation of all evidence, be it from fashionable new techniques or from conventional ones that have stood the test of time.…”

Cytogenetics, Molecular Genetics and Epigenetics and Their Impact on The Management of Acute Lymphoblastic Leukemia

“…PCR applications in patients with malignant hematological disorders include: detection of fusion genes, detection of genetic mutations, posthematopoietic stem cell transplantation (HSCT) chimeric analysis and determination of clonality of lymphoid cells [41]. Specimens that are suitable for PCR analysis include: fine needle aspiration samples, small tissue biopsies, BM aspirates and decalcified biopsies, cells scraped from histological or cytological slides and cells that are microdissected from tissue specimens [42].…”

Old and New Prognostic Markers in Pediatric ALL

“…This disease represents an outstanding example, together with APML and CML, of modern medicine's triumph over hematological malignancies using a combination of monitoring and risk-adapted therapeutic strategies [2]. The development and evolution of minimal residual disease (MRD) analysis by the relatively widely available flow cytometric techniques has rapidly made MRD the most decisive prognostic marker in ALL [3].…”

“…Their occurrence in 80-90 % patients makes them widely applicable as well [2]. More recently, genome-wide analyses and high throughput sequencing have uncovered multiple key pathways frequently mutated in B-ALL.…”

“…Clinically, ETV6-RUNX1 is a good prognostic factor, found in children aged 1-10 years, with CD10 ? ALL and characterized by late relapses with excellent chemosensitivity [2,7]. From a laboratory perspective, as the Aydin paper [1] illustrates, FISH probes for the ETV6/RUNX1 fusion also enable presumptive identification of aneuploidies of chromosomes 12 or 21 as well as ETV6or RUNX1 deletions or amplifications.…”