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@article{1641178, author = {Fazio, G. and Massa, V. and Grioni, Andrea and Bystrý, Vojtěch and Rigamonti, S. and Saitta, C. and Galbiati, M. and Rizzari, C. and Consarino, C. and Biondi, A. and Selicorni, A. and Cazzaniga, G.}, article_location = {London}, article_number = {8}, doi = {http://dx.doi.org/10.1136/jclinpath-2019-205707}, keywords = {molecular genetics; haemato-oncology; molecular oncology; paediatric haematology; paediatric pathology}, language = {eng}, issn = {0021-9746}, journal = {Journal of clinical pathology}, title = {First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia}, url = {https://jcp.bmj.com/content/72/8/558}, volume = {72}, year = {2019} }
TY - JOUR ID - 1641178 AU - Fazio, G. - Massa, V. - Grioni, Andrea - Bystrý, Vojtěch - Rigamonti, S. - Saitta, C. - Galbiati, M. - Rizzari, C. - Consarino, C. - Biondi, A. - Selicorni, A. - Cazzaniga, G. PY - 2019 TI - First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia JF - Journal of clinical pathology VL - 72 IS - 8 SP - 558-561 EP - 558-561 PB - BMJ Publishing Group SN - 00219746 KW - molecular genetics KW - haemato-oncology KW - molecular oncology KW - paediatric haematology KW - paediatric pathology UR - https://jcp.bmj.com/content/72/8/558 L2 - https://jcp.bmj.com/content/72/8/558 N2 - 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. ER -
FAZIO, G., V. MASSA, Andrea GRIONI, Vojtěch BYSTRÝ, S. RIGAMONTI, C. SAITTA, M. GALBIATI, C. RIZZARI, C. CONSARINO, A. BIONDI, A. SELICORNI a G. CAZZANIGA. First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia. \textit{Journal of clinical pathology}. London: BMJ Publishing Group, 2019, roč.~72, č.~8, s.~558-561. ISSN~0021-9746. Dostupné z: https://dx.doi.org/10.1136/jclinpath-2019-205707.
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