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The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia
Author(s) -
De Filippi Paola,
Zecca Marco,
Novara Francesca,
Lisini Daniela,
Maserati Emanuela,
Pasquali Francesco,
Rosti Vittorio,
CarloStella Carmelo,
Zavras Niki,
Cagioni Claudia,
Zuffardi Orsetta,
Pagliara Daria,
Danesino Cesare,
Locatelli Franco
Publication year - 2012
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.23401
Subject(s) - juvenile myelomonocytic leukemia , medicine , neuroblastoma ras viral oncogene homolog , juvenile , mutation , leukemia , pediatrics , cancer research , genetics , immunology , cancer , biology , haematopoiesis , gene , stem cell , kras , colorectal cancer
Juvenile myelomonocytic leukemia (JMML) is a rare myelodysplastic/myeloproliferative disorder of early childhood characterized by mutations of the RAS‐RAF‐MAP kinase signaling pathway. We report the case of a child with a diagnosis of JMML carrying two mutations of NRAS gene (c.37G>C and c.38G>A) independently occurring in long‐term culture initiating cells. However, only the former was consistently found in more mature hematopoietic cells, suggesting that cancer transformation may lead to the loss of a mutation. This case also indicates that molecular analysis on cell types other than peripheral blood leukocytes may be useful to obtain relevant biological information on JMML pathogenesis. Pediatr Blood Cancer 2012;59:580–582. © 2011 Wiley Periodicals, Inc.