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Page 1
Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.
Sargen MR, Kim J, Potjer TP, Velthuizen ME, Martir-Negron AE, Odia Y, Helgadottir H, Hatton JN, Haley JS, Thone G, Widemann BC, Gross AM, Yohe ME, Kaplan RN, Shern JF, Sundby RT, Astiazaran-Symonds E, Yang XR, Carey DJ, Tucker MA, Stewart DR, Goldstein AM. Sargen MR, et al. JAMA Dermatol. 2023 Oct 1;159(10):1112-1118. doi: 10.1001/jamadermatol.2023.2621. JAMA Dermatol. 2023. PMID: 37585199 Free PMC article.
IMPORTANCE: Knowledge about the prevalence and tumor types of CDKN2A-related melanoma-astrocytoma syndrome (MAS) is limited and could improve disease recognition. OBJECTIVE: To estimate the prevalence and describe the tumor types of MAS. ...
IMPORTANCE: Knowledge about the prevalence and tumor types of CDKN2A-related melanoma-astrocytoma syndrome (MAS) is lim …
Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history.
Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA. Chan AK, et al. Clin Neuropathol. 2017 Sep/Oct;36(5):213-221. doi: 10.5414/NP301022. Clin Neuropathol. 2017. PMID: 28699883 Free PMC article.
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of the <italic>CDKN2A</italic> tumor suppressor gene on chromosome 9p21. ...The presence of germline <italic>CDKN2A/B</it …
Familial melanoma-astrocytoma syndrome is a tumor predisposition syndrome caused by inactivating germline alteration of …
Newly Recognized Genetic Tumor Syndromes of the CNS in the 5th WHO Classification: Imaging Overview with Genetic Updates.
Agarwal A, Bathla G, Soni N, Desai A, Ajmera P, Rao D, Gupta V, Vibhute P. Agarwal A, et al. AJNR Am J Neuroradiol. 2024 Feb 7;45(2):128-138. doi: 10.3174/ajnr.A8039. AJNR Am J Neuroradiol. 2024. PMID: 37945522 Review.
Our understanding of these syndromes has evolved rapidly since the previous edition (4th edition, 2016) with recognition of 8 new syndromes, including the following: Elongator protein complex-medulloblastoma syndrome, BRCA1-associated protein 1 tumor-predisposition syndrome, DICE …
Our understanding of these syndromes has evolved rapidly since the previous edition (4th edition, 2016) with recognition of 8 new syndromes, …
A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.
Frigerio S, Disciglio V, Manoukian S, Peissel B, Della Torre G, Maurichi A, Collini P, Pasini B, Gotti G, Ferrari A, Rivoltini L, Massimino M, Rodolfo M. Frigerio S, et al. BMC Med Genet. 2014 May 17;15:59. doi: 10.1186/1471-2350-15-59. BMC Med Genet. 2014. PMID: 24884915 Free PMC article.
BACKGROUND: Association of melanoma, neural system tumors and germ line mutations at the 9p21 region in the CDKN2A, CDKN2B and CDKN2BAS genes has been reported in a small number of families worldwide and described as a discrete syndrome in melanoma families registered as a rare d …
BACKGROUND: Association of melanoma, neural system tumors and germ line mutations at the 9p21 region in the CDKN2A, CDKN2B and CDKN2BAS gene …
The genetics of hereditary melanoma and nevi. 1998 update.
Greene MH. Greene MH. Cancer. 1999 Dec 1;86(11 Suppl):2464-77. doi: 10.1002/(sici)1097-0142(19991201)86:11+<2464::aid-cncr3>3.0.co;2-f. Cancer. 1999. PMID: 10630172 Review.
This finding represents a third melanoma gene but one that accounts for only a tiny fraction of all hereditary melanoma. Recently, a familial melanoma-astrocytoma syndrome has been reported. Large germline deletions of 9p21 occur in these families, with the p …
This finding represents a third melanoma gene but one that accounts for only a tiny fraction of all hereditary melanoma. Recently, a familia …
Cutaneous Melanoma and Glioblastoma Multiforme Association-Case Presentation and Literature Review.
Orzan OA, Giurcăneanu C, Dima B, Dima MB, Ion A, Bălăceanu B, Nițipir C, Tudose I, Nicolae CA, Dorobanțu AM. Orzan OA, et al. Diagnostics (Basel). 2023 Mar 9;13(6):1046. doi: 10.3390/diagnostics13061046. Diagnostics (Basel). 2023. PMID: 36980355 Free PMC article.
The occurrence of both melanoma and glioma was first suggested by the observation of a familial association between these conditions, which was later confirmed by the description of the melanoma-astrocytoma syndrome, an extremely rare, inherited affliction in …
The occurrence of both melanoma and glioma was first suggested by the observation of a familial association between these conditions, which …
A germline deletion of p14(ARF) but not CDKN2A in a melanoma-neural system tumour syndrome family.
Randerson-Moor JA, Harland M, Williams S, Cuthbert-Heavens D, Sheridan E, Aveyard J, Sibley K, Whitaker L, Knowles M, Bishop JN, Bishop DT. Randerson-Moor JA, et al. Hum Mol Genet. 2001 Jan 1;10(1):55-62. doi: 10.1093/hmg/10.1.55. Hum Mol Genet. 2001. PMID: 11136714
The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, commonly astrocytoma. ...
The melanoma-astrocytoma syndrome is characterized by a dual predisposition to melanoma and neural system tumours, comm …
11 results