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IKZF1 deletion and co‐occurrence with other aberrations in a child with chronic myeloid leukemia progressing to acute lymphoblastic leukemia
Author(s) -
Klumb Claudete Esteves,
Barbosa Thayana da Conceição,
Nestal de Moraes Gabriela,
Schramm Marcia Trindade,
Emerenciano Mariana,
Maia Raquel Ciuvalschi
Publication year - 2019
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.27570
Subject(s) - medicine , myeloid leukemia , etv6 , pax5 , immunology , cdkn2a , leukemia , myeloid , pathogenesis , childhood leukemia , lymphoblastic leukemia , chromosomal translocation , cancer , genetics , gene , b cell , antibody , biology
Chronic myeloid leukemia (CML) is a rare disease in children. Different from that in adults, childhood CML involves transformative events occurring over a short time period. CML transformation to lymphoid blast phase (BP) is associated with copy number abnormalities, characteristic of BCR‐ABL1 positive acute lymphoblastic leukemia, but not of CML in the chronic phase. Here, we present an unusual case of CML progressing to BP in a 1.6‐year‐old child, harboring IKZF1 , PAX5 , CDKN2A , and ETV6 deletions at diagnosis. It remains to be addressed whether distinct mechanisms might account for CML pathogenesis in early childhood.