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First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia

G. Fazio, V. Massa, A. Grioni, V. Bystry, S. Rigamonti, C. Saitta, M. Galbiati, C. Rizzari, C. Consarino, A. Biondi, A. Selicorni, G. Cazzaniga,

. 2019 ; 72 (8) : 558-561. [pub] 20190404

Jazyk angličtina Země Anglie, Velká Británie

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc19034659
E-zdroje Online Plný text

NLK ProQuest Central od 2000-01-01 do Před 6 měsíci
Health & Medicine (ProQuest) od 2000-01-01 do Před 6 měsíci

Odkazy

PubMed 30948435
DOI 10.1136/jclinpath-2019-205707
Knihovny.cz E-zdroje

Cornelia de Lange syndrome (CdLS) is a rare autosomal-dominant genetic disorder characterised by prenatal and postnatal growth and mental retardation, facial dysmorphism and upper limb abnormalities. Germline mutations of cohesin complex genes SMC1A, SMC3, RAD21 or their regulators NIPBL and HDAC8 have been identified in CdLS as well as somatic mutations in myeloid disorders. We describe the first case of a paediatric patient with CdLS with B-cell precursor Acute Lymphoblastic Leukaemia (ALL). The patient did not show any unusual cytogenetic abnormality, and he was enrolled into the high risk arm of AIEOP-BFM ALL2009 protocol because of slow early response, but 3 years after discontinuation, he experienced an ALL relapse. We identified a heterozygous mutation in exon 46 of NIPBL, causing frameshift and a premature stop codon (RNA-Targeted Next generation Sequencing Analysis). The analysis of the family indicated a de novo origin of this previously not reported deleterious variant. As for somatic cohesin mutations in acute myeloid leukaemia, also this ALL case was not affected by aneuploidy, thus suggesting a major impact of the non-canonical role of NIPBL in gene regulation. A potential biological role of NIPBL in leukaemia has still to be dissected.

Citace poskytuje Crossref.org

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