Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update:
Clinical data and novel causative genetic lesions

J 2020

Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions

VOLEJNIKOVA, Jana; Petr VOJTA; Helena URBANKOVA; Renata MOJZIKOVA; Monika HORVATHOVA et al.

Základní údaje

Originální název

Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions

Autoři

Vydání

Blood Cells, Molecules and Diseases, Orlando, Florida, Academic Press, 2020, 1079-9796

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.039

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/20:00115428

Organizační jednotka

Lékařská fakulta

Klíčová slova anglicky

Cancer; Diamond-Blackfan anemia (DBA); Mutations; Registry; Ribosomal proteins (RP)

Štítky

14110321, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 13. 7. 2020 15:11, Mgr. Tereza Miškechová

Anotace

V originále

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia, underlied by haploinsufficient mutations in genes coding for ribosomal proteins (RP) in approximately 70% of cases. DBA is frequently associated with somatic malformations, endocrine dysfunction and with an increased predisposition to cancer. Here we present clinical and genetic characteristics of 62 patients from 52 families enrolled in the Czech and Slovak DBA Registry. Whole exome sequencing (WES) and array comparative genomic hybridization (aCGH) were employed to identify causative mutations in newly diagnosed patients and in cases with previously unrecognized molecular pathology. RP mutation detection rate was 81% (50/62 patients). This included 8 novel point mutations and 4 large deletions encompassing some of the RP genes. Malignant or predisposing condition developed in 8/62 patients (13%): myelodysplastic syndrome in 3 patients; breast cancer in 2 patients; colorectal cancer plus ocular tumor, diffuse large B-cell lymphoma and multiple myeloma each in one case. These patients exclusively harbored RPL5, RPL11 or RPS19 mutations. Array CGH is beneficial for detection of novel mutations in DBA due to its capacity to detect larger chromosomal aberrations. Despite the importance of genotype-phenotype correlation in DBA, phenotypic differences among family members harboring an identical mutation were observed.

Citovat

VOLEJNIKOVA, Jana; Petr VOJTA; Helena URBANKOVA; Renata MOJZIKOVA; Monika HORVATHOVA; Ivana HOCHOVA; Jaroslav CERMAK; Jan BLATNÝ; Martina SUKOVA; Eva BUBANSKA; Jaroslava FEKETEOVA; Daniela PROCHAZKOVA; Julia HORAKOVA; Marian HAJDUCH a Dagmar POSPISILOVA. Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions. Blood Cells, Molecules and Diseases. Orlando, Florida: Academic Press, 2020, roč. 81, MAR 2020, s. 1-11. ISSN 1079-9796. Dostupné z: https://doi.org/10.1016/j.bcmd.2019.102380.

@article{1637496,
   author = {Volejnikova, Jana and Vojta, Petr and Urbankova, Helena and Mojzikova, Renata and Horvathova, Monika and Hochova, Ivana and Cermak, Jaroslav and Blatný, Jan and Sukova, Martina and Bubanska, Eva and Feketeova, Jaroslava and Prochazkova, Daniela and Horakova, Julia and Hajduch, Marian and Pospisilova, Dagmar},
   article_location = {Orlando, Florida},
   article_number = {MAR 2020},
   doi = {https://doi.org/10.1016/j.bcmd.2019.102380},
   keywords = {Cancer; Diamond-Blackfan anemia (DBA); Mutations; Registry; Ribosomal proteins (RP)},
   language = {eng},
   issn = {1079-9796},
   journal = {Blood Cells, Molecules and Diseases},
   title = {Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions},
   url = {http://dx.doi.org/10.1016/j.bcmd.2019.102380},
   volume = {81},
   year = {2020}
}

TY  - JOUR
ID  - 1637496
AU  - Volejnikova, Jana - Vojta, Petr - Urbankova, Helena - Mojzikova, Renata - Horvathova, Monika - Hochova, Ivana - Cermak, Jaroslav - Blatný, Jan - Sukova, Martina - Bubanska, Eva - Feketeova, Jaroslava - Prochazkova, Daniela - Horakova, Julia - Hajduch, Marian - Pospisilova, Dagmar
PY  - 2020
TI  - Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions
JF  - Blood Cells, Molecules and Diseases
VL  - 81
IS  - MAR 2020
SP  - 1-11
EP  - 1-11
PB  - Academic Press
SN  - 10799796
KW  - Cancer
KW  - Diamond-Blackfan anemia (DBA)
KW  - Mutations
KW  - Registry
KW  - Ribosomal proteins (RP)
UR  - http://dx.doi.org/10.1016/j.bcmd.2019.102380
L2  - http://dx.doi.org/10.1016/j.bcmd.2019.102380
N2  - Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia, underlied by haploinsufficient mutations in genes coding for ribosomal proteins (RP) in approximately 70% of cases. DBA is frequently associated with somatic malformations, endocrine dysfunction and with an increased predisposition to cancer. Here we present clinical and genetic characteristics of 62 patients from 52 families enrolled in the Czech and Slovak DBA Registry. Whole exome sequencing (WES) and array comparative genomic hybridization (aCGH) were employed to identify causative mutations in newly diagnosed patients and in cases with previously unrecognized molecular pathology. RP mutation detection rate was 81% (50/62 patients). This included 8 novel point mutations and 4 large deletions encompassing some of the RP genes. Malignant or predisposing condition developed in 8/62 patients (13%): myelodysplastic syndrome in 3 patients; breast cancer in 2 patients; colorectal cancer plus ocular tumor, diffuse large B-cell lymphoma and multiple myeloma each in one case. These patients exclusively harbored RPL5, RPL11 or RPS19 mutations. Array CGH is beneficial for detection of novel mutations in DBA due to its capacity to detect larger chromosomal aberrations. Despite the importance of genotype-phenotype correlation in DBA, phenotypic differences among family members harboring an identical mutation were observed.
ER  -

VOLEJNIKOVA, Jana; Petr VOJTA; Helena URBANKOVA; Renata MOJZIKOVA; Monika HORVATHOVA; Ivana HOCHOVA; Jaroslav CERMAK; Jan BLATNÝ; Martina SUKOVA; Eva BUBANSKA; Jaroslava FEKETEOVA; Daniela PROCHAZKOVA; Julia HORAKOVA; Marian HAJDUCH a Dagmar POSPISILOVA. Czech and Slovak Diamond-Blackfan Anemia (DBA) Registry update: Clinical data and novel causative genetic lesions. \textit{Blood Cells, Molecules and Diseases}. Orlando, Florida: Academic Press, 2020, roč.~81, MAR 2020, s.~1-11. ISSN~1079-9796. Dostupné z: https://doi.org/10.1016/j.bcmd.2019.102380.

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