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

Authors

Harsha Prasada Lashkari, Kasturba Medical College, Mangalore
Naga Venkata Sirisha Andey, Christian Medical College, Vellore
Nanda Kumar, Aster MIMS
Katta M. Girisha, Kasturba Medical College, Manipal

Document Type

Article

Publication Title

Pediatric Hematology Oncology Journal

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.

First Page

88

Last Page

90

DOI

10.1016/j.phoj.2021.03.005

Publication Date

6-1-2021

Recommended Citation

Lashkari, Harsha Prasada; Andey, Naga Venkata Sirisha; Kumar, Nanda; and Girisha, Katta M., "Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion: JMML and Developmental delay" (2021). Open Access archive. 2755.
https://impressions.manipal.edu/open-access-archive/2755