Management of Two Juvenile Myelomonocytic Leukemia Patients According to Clinical and Genetic Features

Overview

Journal Turk J Haematol

Specialty Hematology

Date 2015 Aug 29

PMID 26316488

Authors

Ozlem Tufekci

Hale Oren

Fatma Demir Yenigurbuz

Salih Gozmen

Tuba Hilkay Karapinar

Gulersu Irken

Affiliations

Soon will be listed here.

Abstract

Juvenile myelomonocytic leukemia (JMML) is a rare clonal myeloproliferative disorder of childhood. Major progress has been achieved in diagnosis and the understanding of the pathogenesis of JMML by identifying the genetic pathologies that occur in patients. Mutations of RAS, NF1, PTPN11, and CBL are found in approximately 80% of JMML patients. Distinct clinical features have been reported to be associated with specific gene mutations. The advent of genomic studies and recent identification of novel genetic mutations in JMML are important not only in diagnosis but also in the management and prognosis of the disease. Herein, we present 2 patients with JMML harboring different mutations, NRAS and c-CBL, respectively, with distinct clinical features and different therapeutic approaches.

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