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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Main Authors:	Harsha Prasada Lashkari, Naga Venkata Sirisha Andey, Nanda Kumar, Katta M. Girisha
Format:	Article
Language:	English
Published:	Elsevier 2021-06-01
Series:	Pediatric Hematology Oncology Journal
Subjects:	JMML Developmental delay Dysmorphism PTPN11 mutation
Online Access:	http://www.sciencedirect.com/science/article/pii/S246812452100019X

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spelling	doaj-4a26ea10a9c44a96887af0259a5b3c512021-06-17T04:48:26ZengElsevierPediatric Hematology Oncology Journal2468-12452021-06-01628890Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletionHarsha Prasada Lashkari0Naga Venkata Sirisha Andey1Nanda Kumar2Katta M. Girisha3Kasturba Medical College, Manipal Academy of Higher Education, Mangalore, 575001, India; Corresponding author. Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Mangalore, 575001, India.Christian Medical College, Ida Scudder Road, Vellore, 632004, Tamil Nadu, IndiaASTER MIMS Hospital Chala East, Kannur, 670621, IndiaKasturba Medical College, Manipal Academy of Higher Education (MAHE), Manipal, Udupi, 576104, IndiaJMML 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.http://www.sciencedirect.com/science/article/pii/S246812452100019XJMMLDevelopmental delayDysmorphismPTPN11 mutation
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Harsha Prasada Lashkari Naga Venkata Sirisha Andey Nanda Kumar Katta M. Girisha
spellingShingle	Harsha Prasada Lashkari Naga Venkata Sirisha Andey Nanda Kumar Katta M. Girisha Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion Pediatric Hematology Oncology Journal JMML Developmental delay Dysmorphism PTPN11 mutation
author_facet	Harsha Prasada Lashkari Naga Venkata Sirisha Andey Nanda Kumar Katta M. Girisha
author_sort	Harsha Prasada Lashkari
title	Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion
title_short	Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion
title_full	Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion
title_fullStr	Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion
title_full_unstemmed	Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion
title_sort	myelomonocytic leukaemia (jmml) in a child with intellectual disability and chromosome 4q deletion
publisher	Elsevier
series	Pediatric Hematology Oncology Journal
issn	2468-1245
publishDate	2021-06-01
description	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.
topic	JMML Developmental delay Dysmorphism PTPN11 mutation
url	http://www.sciencedirect.com/science/article/pii/S246812452100019X
work_keys_str_mv	AT harshaprasadalashkari myelomonocyticleukaemiajmmlinachildwithintellectualdisabilityandchromosome4qdeletion AT nagavenkatasirishaandey myelomonocyticleukaemiajmmlinachildwithintellectualdisabilityandchromosome4qdeletion AT nandakumar myelomonocyticleukaemiajmmlinachildwithintellectualdisabilityandchromosome4qdeletion AT kattamgirisha myelomonocyticleukaemiajmmlinachildwithintellectualdisabilityandchromosome4qdeletion
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Myelomonocytic leukaemia (JMML) in a child with intellectual disability and chromosome 4q deletion

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