Acute Lymphoblastic Leukemia in a Child With Leri-Weill Syndrome and Complete SHOX Gene Deletion: A Case Report
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F18%3A73590291" target="_blank" >RIV/61989592:15110/18:73590291 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.5507/bp.2018.002" target="_blank" >http://dx.doi.org/10.5507/bp.2018.002</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.5507/bp.2018.002" target="_blank" >10.5507/bp.2018.002</a>
Alternative languages
Result language
angličtina
Original language name
Acute Lymphoblastic Leukemia in a Child With Leri-Weill Syndrome and Complete SHOX Gene Deletion: A Case Report
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30209 - Paediatrics
Result continuities
Project
<a href="/en/project/LO1304" target="_blank" >LO1304: Support of suistainability of the Institute of Molecular and Translational Medicine</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2018
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
BIOMEDICAL PAPERS-OLOMOUC
ISSN
1213-8118
e-ISSN
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Volume of the periodical
162
Issue of the periodical within the volume
1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
6
Pages from-to
65-70
UT code for WoS article
000428951000012
EID of the result in the Scopus database
2-s2.0-85044744312