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

doi:10.1016/j.phoj.2021.03.005

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 journal › Letter › peer-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 language	English
Pages (from-to)	1-11
Number of pages	11
Journal	Pediatric Hematology Oncology Journal
DOIs	https://doi.org/10.1016/j.phoj.2021.03.005
Publication status	Published - 29-03-2021

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

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.",

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doi = "10.1016/j.phoj.2021.03.005",

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T1 - Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion

AU - Lashkari, Harsha P

AU - Andey, Naga Venkata Sirisha

AU - Kumar, Nanda

AU - Katta, Girisha M

PY - 2021/3/29

Y1 - 2021/3/29

N2 - 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.

AB - 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.

U2 - 10.1016/j.phoj.2021.03.005

DO - 10.1016/j.phoj.2021.03.005

M3 - Letter

SN - 2468-1245

SP - 1

EP - 11

JO - Pediatric Hematology Oncology Journal

JF - Pediatric Hematology Oncology Journal

ER -

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

Abstract

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