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

J 2019

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

FAZIO, G.; V. MASSA; Andrea GRIONI; Vojtěch BYSTRÝ; S. RIGAMONTI et al.

Základní údaje

Originální název

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

Autoři

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

Vydání

Journal of clinical pathology, London, BMJ Publishing Group, 2019, 0021-9746

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30109 Pathology

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 2.460

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14740/19:00113418

Organizační jednotka

Středoevropský technologický institut

Klíčová slova anglicky

molecular genetics; haemato-oncology; molecular oncology; paediatric haematology; paediatric pathology

Štítky

rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 24. 10. 2024 16:56, Ing. Marie Švancarová

Anotace

V originále

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.

Návaznosti

90091, velká výzkumná infrastruktura

Název: NCMG

Citovat

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. Journal of clinical pathology. London: BMJ Publishing Group, 2019, roč. 72, č. 8, s. 558-561. ISSN 0021-9746. Dostupné z: https://doi.org/10.1136/jclinpath-2019-205707.

@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 = {https://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://doi.org/10.1136/jclinpath-2019-205707.

Přehled o publikaci