The strange case of the lost NRAS mutation in a child with juvenile myelomonocytic leukemia.

Abstract:

: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.

journal_name

Pediatr Blood Cancer

journal_title

Pediatric blood & cancer

authors

De Filippi P,Zecca M,Novara F,Lisini D,Maserati E,Pasquali F,Rosti V,Carlo-Stella C,Zavras N,Cagioni C,Zuffardi O,Pagliara D,Danesino C,Locatelli F

doi

10.1002/pbc.23401

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

580-2

issue

3

eissn

1545-5009

issn

1545-5017

journal_volume

59

pub_type

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