9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature

Research output: Contribution to journal › Review › Research › peer-review

Standard

9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature. / Jensen, Marlene Richter; Stoltze, Ulrik; Hansen, Thomas Van Overeem; Bak, Mads; Sehested, Astrid; Rechnitzer, Catherine; Mathiasen, René; Scheie, David; Larsen, Karen Bonde; Olsen, Tina Elisabeth; Muhic, Aida; Skjøth-Rasmussen, Jane; Rossing, Maria; Schmiegelow, Kjeld; Wadt, Karin.

In: Cold Spring Harbor molecular case studies, Vol. 8, No. 4, a006164, 2022.

Research output: Contribution to journal › Review › Research › peer-review

Harvard

Jensen, MR, Stoltze, U, Hansen, TVO, Bak, M, Sehested, A, Rechnitzer, C, Mathiasen, R, Scheie, D, Larsen, KB, Olsen, TE, Muhic, A, Skjøth-Rasmussen, J, Rossing, M, Schmiegelow, K & Wadt, K 2022, '9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature', Cold Spring Harbor molecular case studies, vol. 8, no. 4, a006164. https://doi.org/10.1101/mcs.a006164

APA

Jensen, M. R., Stoltze, U., Hansen, T. V. O., Bak, M., Sehested, A., Rechnitzer, C., Mathiasen, R., Scheie, D., Larsen, K. B., Olsen, T. E., Muhic, A., Skjøth-Rasmussen, J., Rossing, M., Schmiegelow, K., & Wadt, K. (2022). 9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature. Cold Spring Harbor molecular case studies, 8(4), [a006164]. https://doi.org/10.1101/mcs.a006164

Vancouver

Jensen MR, Stoltze U, Hansen TVO, Bak M, Sehested A, Rechnitzer C et al. 9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature. Cold Spring Harbor molecular case studies. 2022;8(4). a006164. https://doi.org/10.1101/mcs.a006164

Author

Jensen, Marlene Richter ; Stoltze, Ulrik ; Hansen, Thomas Van Overeem ; Bak, Mads ; Sehested, Astrid ; Rechnitzer, Catherine ; Mathiasen, René ; Scheie, David ; Larsen, Karen Bonde ; Olsen, Tina Elisabeth ; Muhic, Aida ; Skjøth-Rasmussen, Jane ; Rossing, Maria ; Schmiegelow, Kjeld ; Wadt, Karin. / 9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature. In: Cold Spring Harbor molecular case studies. 2022 ; Vol. 8, No. 4.

Bibtex

@article{e90439de080f4b9588922d1c030bd6ad,

title = "9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature",

abstract = "Germline pathogenic variants in CDKN2A predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas CDKN2B variants are associated with renal cell carcinoma. A few case reports have described heterozygous germline deletions spanning both CDKN2A and CDKN2B associated with a cancer predisposition syndrome (CPS) that constitutes a risk of cancer beyond those associated with haploinsufficiency of each gene individually, indicating an additive effect or a contiguous gene deletion syndrome. We report a young woman with a de novo germline 9p21 microdeletion involving the CDKN2A/CDKN2B genes, who developed six primary cancers since childhood, including a very rare extraskeletal osteosarcoma (eOS) at the age of 8. To our knowledge this is the first report of eOS in a patient with CDKN2A/CDKN2B deletion.",

keywords = "astrocytoma, cutaneous melanoma, neoplasm of the skin, neurofibromas, osteosarcoma",

author = "Jensen, {Marlene Richter} and Ulrik Stoltze and Hansen, {Thomas Van Overeem} and Mads Bak and Astrid Sehested and Catherine Rechnitzer and Ren{\'e} Mathiasen and David Scheie and Larsen, {Karen Bonde} and Olsen, {Tina Elisabeth} and Aida Muhic and Jane Skj{\o}th-Rasmussen and Maria Rossing and Kjeld Schmiegelow and Karin Wadt",

note = "Publisher Copyright: {\textcopyright} 2022 Jensen et al.; Published by Cold Spring Harbor Laboratory Press.",

year = "2022",

doi = "10.1101/mcs.a006164",

language = "English",

volume = "8",

journal = "Cold Spring Harbor molecular case studies",

issn = "2373-2865",

publisher = "Cold Spring Harbor Laboratory Press",

number = "4",

}

RIS

TY - JOUR

T1 - 9p21.3 Microdeletion involving CDKN2A/2B in a young patient with multiple primary cancers and review of the literature

AU - Jensen, Marlene Richter

AU - Stoltze, Ulrik

AU - Hansen, Thomas Van Overeem

AU - Bak, Mads

AU - Sehested, Astrid

AU - Rechnitzer, Catherine

AU - Mathiasen, René

AU - Scheie, David

AU - Larsen, Karen Bonde

AU - Olsen, Tina Elisabeth

AU - Muhic, Aida

AU - Skjøth-Rasmussen, Jane

AU - Rossing, Maria

AU - Schmiegelow, Kjeld

AU - Wadt, Karin

PY - 2022

Y1 - 2022

N2 - Germline pathogenic variants in CDKN2A predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas CDKN2B variants are associated with renal cell carcinoma. A few case reports have described heterozygous germline deletions spanning both CDKN2A and CDKN2B associated with a cancer predisposition syndrome (CPS) that constitutes a risk of cancer beyond those associated with haploinsufficiency of each gene individually, indicating an additive effect or a contiguous gene deletion syndrome. We report a young woman with a de novo germline 9p21 microdeletion involving the CDKN2A/CDKN2B genes, who developed six primary cancers since childhood, including a very rare extraskeletal osteosarcoma (eOS) at the age of 8. To our knowledge this is the first report of eOS in a patient with CDKN2A/CDKN2B deletion.

AB - Germline pathogenic variants in CDKN2A predispose to various cancers, including melanoma, pancreatic cancer, and neural system tumors, whereas CDKN2B variants are associated with renal cell carcinoma. A few case reports have described heterozygous germline deletions spanning both CDKN2A and CDKN2B associated with a cancer predisposition syndrome (CPS) that constitutes a risk of cancer beyond those associated with haploinsufficiency of each gene individually, indicating an additive effect or a contiguous gene deletion syndrome. We report a young woman with a de novo germline 9p21 microdeletion involving the CDKN2A/CDKN2B genes, who developed six primary cancers since childhood, including a very rare extraskeletal osteosarcoma (eOS) at the age of 8. To our knowledge this is the first report of eOS in a patient with CDKN2A/CDKN2B deletion.

KW - astrocytoma

KW - cutaneous melanoma

KW - neoplasm of the skin

KW - neurofibromas

KW - osteosarcoma

U2 - 10.1101/mcs.a006164

DO - 10.1101/mcs.a006164

M3 - Review

C2 - 35422439

AN - SCOPUS:85133101227

VL - 8

JO - Cold Spring Harbor molecular case studies

JF - Cold Spring Harbor molecular case studies

SN - 2373-2865

IS - 4

M1 - a006164

ER -

ID: 326631092

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