Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion

JMML is a rare aggressive type of leukaemia seen in children. It is often seen with syndromes such as Noonan, and neurofibromatosis type 1. Rarely it can be a sporadic event. The pathogenesis of myeloproliferation in this condition is due to the activation of the MAPK-RAS pathway. We here report an...

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Bibliographic Details
Published in:Pediatric hematology oncology journal 2021-06, Vol.6 (2), p.88-90
Main Authors: Lashkari, Harsha Prasada, Andey, Naga Venkata Sirisha, Kumar, Nanda, Girisha, Katta M.
Format: Article
Language:English
Subjects:
Developmental delay
Dysmorphism
JMML
PTPN11 mutation
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Summary:JMML is a rare aggressive type of leukaemia seen in children. It is often seen with syndromes such as Noonan, and neurofibromatosis type 1. Rarely it can be a sporadic event. The pathogenesis of myeloproliferation in this condition is due to the activation of the MAPK-RAS pathway. We here report an association of JMML having mutations in two known disease-causing genes PTPN11 and ASXL1 in a child with neurodevelopmental delay due to chromosome 4q deletion, for the first time.
ISSN:2468-1245
2468-1245
DOI:10.1016/j.phoj.2021.03.005