Biomedical papers, 2018 (vol. 162), issue 1

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2018, 162(1):65-70 | 10.5507/bp.2018.002

Acute lymphoblastic leukemia in a child with Leri-Weill syndrome and complete SHOX gene deletion: A Case Report

Jana Volejnikovaa,b, Jirina Zapletalovaa, Marie Jarosovac, Helena Urbankovac, Petr Vojtab, Eva Klaskovaa, Marshall S. Horwitzd, Marian Hajduchb, Vladimir Mihala,b
a Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
b Institute of Molecular and Translational Medicine, Palacky University Olomouc, Czech Republic
c Department of Hemato-Oncology, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic
d Department of Pathology, School of Medicine, University of Washington, Seattle, WA, USA

Background: Leri-Weill syndrome (LWS) ranks among conditions with short stature homeobox gene (SHOX) haploinsufficiency. Data on possible association of SHOX aberrations with malignant diseases are scarce.

Methods and Results: We report a unique case of an 8-year-old girl who was successfully treated for acute lymphoblastic leukemia (pre-B ALL, intermediate risk) and was subsequently diagnosed with LWS due to characteristic clinical appearance (short disproportionate stature, Madelung deformity of the wrist) and molecular genetic examination (complete deletion of SHOX). An identical SHOX deletion was identified also in the patient's mother. Leukemic cells of the patient were retrospectively examined by array comparative genomic hybridization (aCGH), which revealed five regions of deletions at chromosome X, including the SHOX gene locus.

Conclusion: Growth retardation in children with hemato-oncologic malignancies cannot always be attributed to cytotoxic treatment and should be carefully evaluated, especially with regards to growth hormone therapy.

Keywords: acute lymphoblastic leukemia (ALL), childhood, Leri-Weill syndrome (LWS), pseudoautosomal region (PAR1), SHOX gene

Received: January 23, 2017; Accepted: February 5, 2018; Prepublished online: February 21, 2018; Published: March 27, 2018


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