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

Harsha P Lashkari, Naga Venkata Sirisha Andey, Nanda Kumar, Girisha M Katta

Research output: Contribution to journalLetterpeer-review

Abstract

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.
Original languageEnglish
Pages (from-to)1-11
Number of pages11
JournalPediatric Hematology Oncology Journal
DOIs
Publication statusPublished - 29-03-2021

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