Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

David Guenat; Samuel Quentin; Carmelo Rizzari; Catarina Lundin; Tiziana Coliva; Patrick Edery; Helen Fryssira; Laurent Bermont; Christophe Ferrand; Jean Soulier; Christophe Borg; Pierre-Simon Rohrlich

doi:10.1186/s13045-014-0082-4

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

David Guenat, Samuel Quentin, Carmelo Rizzari, Catarina Lundin, Tiziana Coliva, Patrick Edery, Helen Fryssira, Laurent Bermont, Christophe Ferrand, Jean Soulier, Christophe Borg, Pierre-Simon Rohrlich

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Forskningsoutput: Tidskriftsbidrag › Letter

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Sammanfattning

Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.

Originalspråk	engelska
Artikelnummer	82
Tidskrift	Journal of Hematology & Oncology
Volym	7
DOI	https://doi.org/10.1186/s13045-014-0082-4
Status	Published - 2014

Ämnesklassifikation (UKÄ)

Medicinsk genetik och genomik (Här ingår: Genterapi)

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10.1186/s13045-014-0082-4

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title = "Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma",

abstract = "Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.",

keywords = "Williams-Beuren syndrome, Non-Hodgkin Lymphoma, 7q11.23, Cancer, predisposition, DNA repair",

author = "David Guenat and Samuel Quentin and Carmelo Rizzari and Catarina Lundin and Tiziana Coliva and Patrick Edery and Helen Fryssira and Laurent Bermont and Christophe Ferrand and Jean Soulier and Christophe Borg and Pierre-Simon Rohrlich",

year = "2014",

doi = "10.1186/s13045-014-0082-4",

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journal = "Journal of Hematology & Oncology",

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TY - JOUR

T1 - Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

AU - Guenat, David

AU - Quentin, Samuel

AU - Rizzari, Carmelo

AU - Lundin, Catarina

AU - Coliva, Tiziana

AU - Edery, Patrick

AU - Fryssira, Helen

AU - Bermont, Laurent

AU - Ferrand, Christophe

AU - Soulier, Jean

AU - Borg, Christophe

AU - Rohrlich, Pierre-Simon

PY - 2014

Y1 - 2014

N2 - Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.

AB - Here, we report and investigate the genomic alterations of two novel cases of Non-Hodgkin Lymphoma (NHL) in children with Williams-Beuren syndrome (WBS), a multisystem disorder caused by 7q11.23 hemizygous deletion. Additionally, we report the case of a child with NHL and a somatic 7q11.23 deletion. Although the WBS critical region has not yet been identified as a susceptibility locus in NHL, it harbors a number of genes involved in DNA repair. The high proportion of pediatric NHL reported in WBS is intriguing. Therefore, the role of haploinsufficiency of genes located at 7q11.23 in lymphomagenesis deserves to be investigated.

KW - Williams-Beuren syndrome

KW - Non-Hodgkin Lymphoma

KW - 7q11.23

KW - Cancer

KW - predisposition

KW - DNA repair

U2 - 10.1186/s13045-014-0082-4

DO - 10.1186/s13045-014-0082-4

M3 - Letter

C2 - 25388916

SN - 1756-8722

VL - 7

JO - Journal of Hematology & Oncology

JF - Journal of Hematology & Oncology

M1 - 82

ER -

Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma

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Ämnesklassifikation (UKÄ)

FN:s Globala mål

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