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Immunoglobulin Gene Sequence Analysis In Chronic Lymphocytic Leukemia: From Patient Material To Sequence Interpretation
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Published on: November 26, 2018

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Identification of Prognostic and Susceptibility Markers in Chronic Myeloid Leukemia Using Next Generation Sequencing

Yogender Shokeen1, Neeta Raj Sharma2, Abhishek Vats3

  • 1Department of Medical Oncology, Sir Ganga Ram Hospital, Rajinder Nagar, Delhi, India.

Ethiopian Journal of Health Sciences
|July 10, 2018
PubMed
Abstract

Insights

Genetic markers can predict Chronic Myeloid Leukemia (CML) treatment response and susceptibility. This study identified specific variants in CML patients, offering potential for personalized medicine and early detection strategies.

Area of Science:

  • Oncology
  • Genetics
  • Hematology

Background:

  • Chronic Myeloid Leukemia (CML) incidence is rising, with significant patient resistance to Imatinib Mesylate (IM) therapy.
  • Identifying prognostic and susceptibility markers is crucial for effective CML management.
  • Clinical Exome Sequencing was employed to discover these genetic markers.

Purpose of the Study:

  • To identify genetic markers that predict the occurrence and prognosis of Chronic Myeloid Leukemia (CML).
  • To discover prognostic markers for Imatinib Mesylate (IM) response and susceptibility markers for CML development.
  • To explore the utility of Clinical Exome Sequencing in CML genetic research.

Main Methods:

  • 18 CML patients (10 IM responders, 8 IM failures) and 5 healthy controls were enrolled.
  • DNA was analyzed using Next Generation Sequencing (Clinical Exome Sequencing).
  • Prognostic markers were defined as rare mutations present in one group but absent in another; susceptibility markers were mutations present in over 50% of patients.

Main Results:

  • Four variants (rs116201358, rs4014596, rs52897880, rs2274329) in C8A, UNC93B1, APOH, and CA6 genes were found in IM responders.
  • The rs4945 variant in MFGE8 was identified in IM failures.
  • Susceptibility markers included mutations in HLA-DRB1, HLA-DRB5, RPHN2, CYP2F1, KCNJ12, and FUT3 genes.

Conclusions:

  • The identified genetic markers show potential for predicting IM response in CML patients.
  • Susceptibility markers could be utilized in panels for individuals at risk of developing CML.
  • These findings may contribute to personalized treatment strategies and early detection of CML.
Keywords:
Chronic Myeloid LeukemiaGenetic MarkersNext Generation Sequencing (NGS)

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