Acute Lymphoblastic Leukemia in a Child With Leri-Weill Syndrome and Complete SHOX Gene Deletion: A Case Report

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Acute Lymphoblastic Leukemia in a Child With Leri-Weill Syndrome and Complete SHOX Gene Deletion: A Case Report

Popis výsledku v původním jazyce

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&apos;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.

Název v anglickém jazyce

Acute Lymphoblastic Leukemia in a Child With Leri-Weill Syndrome and Complete SHOX Gene Deletion: A Case Report

Popis výsledku anglicky

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&apos;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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30209 - Paediatrics

Projekt

<a href="/cs/project/LO1304" target="_blank" >LO1304: Podpora udržitelnosti Ústavu molekulární a translační medicíny</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2018

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

BIOMEDICAL PAPERS-OLOMOUC

ISSN

1213-8118

e-ISSN

—

Svazek periodika

162

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

6

Strana od-do

65-70

Kód UT WoS článku

000428951000012

EID výsledku v databázi Scopus

2-s2.0-85044744312