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
N1 - Cold Spring Harbor Laboratory Press.
PY - 2022/6
Y1 - 2022/6
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 - Child
KW - Chromosome Aberrations
KW - Cyclin-Dependent Kinase Inhibitor p15/genetics
KW - Cyclin-Dependent Kinase Inhibitor p16/genetics
KW - Female
KW - Genes, p16
KW - Humans
KW - Melanoma/genetics
KW - Neoplasms, Multiple Primary/genetics
KW - cutaneous melanoma
KW - neoplasm of the skin
KW - astrocytoma
KW - neurofibromas
KW - osteosarcoma
UR - http://www.scopus.com/inward/record.url?scp=85133101227&partnerID=8YFLogxK
U2 - 10.1101/mcs.a006164
DO - 10.1101/mcs.a006164
M3 - Review
C2 - 35422439
SN - 2373-2873
VL - 8
JO - Cold Spring Harbor Molecular Case Studies
JF - Cold Spring Harbor Molecular Case Studies
IS - 4
M1 - a006164
ER -