Malignant hematological disorders in children with Wolf-Hirschhorn syndrome

Anjali Sharathkumar; Melanie Kirby; Melvin Freedman; Mohamed Abdelhaleem; David Chitayat; Ikuko E Teshima; Yigal Dror

doi:10.1002/ajmg.a.20080

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Malignant hematological disorders in children with Wolf-Hirschhorn syndrome

Journal article

Open access

Peer reviewed

Malignant hematological disorders in children with Wolf-Hirschhorn syndrome

Anjali Sharathkumar, Melanie Kirby, Melvin Freedman, Mohamed Abdelhaleem, David Chitayat, Ikuko E Teshima and Yigal Dror

American journal of medical genetics, Vol.119A(2), pp.194-199

2003

DOI: 10.1002/ajmg.a.20080

PMID: 12749063

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Abstract

Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder attributable to a deletion at the short arm of chromosome 4. This syndrome is associated with characteristic facial appearance, multiple congenital abnormalities, mental retardation, feeding difficulties and failure to thrive. We report two girls with WHS who developed myelodysplastic syndrome (MDS). According to the "Category-Cytology-Cytogenetics (CCC)"classification of childhood MDS, patient 1 had refractory cytopenia with ring sideroblasts at the age of 6 years, while patient 2 had refractory cytopenia with dysplasia at the age of 5 1/2 years. Patient I progressed to refractory cytopenia with excess blasts within a year, while patient 2 progressed to acute lymphoblastic leukemia within I month of presentation. It is possible that allelic loss of a tumor suppressor gene such as WHSC1 and/or FGFR3 from the deleted segment 4p16.3 plays a critical role in the process of malignant transformation. To our knowledge, this is the first report of severe hematological complications like MDS and leukemia in children with WHS and may be an important genetic model for understanding malignant hematological transformation. This report also underscores the importance of evaluating children with WHS for hematopoietic dysfunction. © 2003 Wiley-Liss, Inc.

Medical Genetics

Biological and medical sciences

Complex syndromes

Medical sciences

Details

Title: Subtitle: Malignant hematological disorders in children with Wolf-Hirschhorn syndrome
Creators: Anjali Sharathkumar - University of Toronto
Melanie Kirby - University of Toronto
Melvin Freedman - University of Toronto
Mohamed Abdelhaleem - University of Toronto
David Chitayat - University of Toronto
Ikuko E Teshima - University of Toronto
Yigal Dror - University of Toronto
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.119A(2), pp.194-199
DOI: 10.1002/ajmg.a.20080
PMID: 12749063
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: Wiley-Liss
Language: English
Date published: 2003
Academic Unit: Stead Family Department of Pediatrics; Hematology/Oncology
Record Identifier: 9984353933602771

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