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RUNX1 amplification in AML with myelodysplasia‐related changes and ring 21 chromosomes
Author(s) -
BurilloSanz S,
Vargas MT,
MoralesCamacho RM,
CaballeroVelázquez T,
Sánchez J,
GarcíaLozano JR,
Pérez de Soto I,
PratsMartín C,
Bernal R,
PérezSimón JA
Publication year - 2017
Publication title -
hematological oncology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.918
H-Index - 44
eISSN - 1099-1069
pISSN - 0278-0232
DOI - 10.1002/hon.2287
Subject(s) - runx1 , ring chromosome , chromosome 21 , trisomy , monosomy , biology , cancer research , aneuploidy , genetics , phenotype , chromosome , gene , karyotype , microbiology and biotechnology , transcription factor
Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia‐related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1 . RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright © 2016 John Wiley & Sons, Ltd.