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Melanoma and neural system tumor syndrome

MedGen UID:
331890
Concept ID:
C1835042
Neoplastic Process
Synonym: Melanoma astrocytoma syndrome
SNOMED CT: Melanoma and neural system tumor syndrome (717968005)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Unknown inheritance
MedGen UID:
989040
Concept ID:
CN307042
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
 
Gene (location): CDKN2A (9p21.3)
 
Monarch Initiative: MONDO:0007967
OMIM®: 155755
Orphanet: ORPHA252206

Definition

An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome. [from SNOMEDCT_US]

Clinical features

From HPO
Malignant melanoma of skin
MedGen UID:
57486
Concept ID:
C0151779
Neoplastic Process
Most melanomas affect only the outermost layer of skin (the epidermis). If a melanoma becomes thicker and involves multiple layers of skin, it can spread to other parts of the body (metastasize).\n\nMelanoma may develop from an existing mole or other normal skin growth that becomes cancerous (malignant); however, many melanomas are new growths. Melanomas often have ragged edges and an irregular shape. They can range from a few millimeters to several centimeters across. They can also be a variety of colors: brown, black, red, pink, blue, or white.\n\nA large number of moles or other pigmented skin growths on the body, generally more than 25, is associated with an increased risk of developing melanoma. Melanoma is also a common feature of genetic syndromes affecting the skin such as xeroderma pigmentosum. Additionally, individuals who have previously had melanoma are nearly nine times more likely than the general population to develop melanoma again. It is estimated that about 90 percent of individuals with melanoma survive at least 5 years after being diagnosed.\n\nMelanoma is a type of skin cancer that begins in pigment-producing cells called melanocytes. This cancer typically occurs in areas that are only occasionally sun-exposed; tumors are most commonly found on the back in men and on the legs in women. Melanoma usually occurs on the skin (cutaneous melanoma), but in about 5 percent of cases it develops in melanocytes in other tissues, including the eyes (uveal melanoma) or mucous membranes that line the body's cavities, such as the moist lining of the mouth (mucosal melanoma). Melanoma can develop at any age, but it most frequently occurs in people in their fifties to seventies and is becoming more common in teenagers and young adults.
Astrocytoma
MedGen UID:
438
Concept ID:
C0004114
Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMelanoma and neural system tumor syndrome
Follow this link to review classifications for Melanoma and neural system tumor syndrome in Orphanet.

Recent clinical studies

Etiology

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
JAMA Dermatol 2023 Oct 1;159(10):1112-1118. doi: 10.1001/jamadermatol.2023.2621. PMID: 37585199Free PMC Article
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. PMID: 10630172

Diagnosis

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
JAMA Dermatol 2023 Oct 1;159(10):1112-1118. doi: 10.1001/jamadermatol.2023.2621. PMID: 37585199Free PMC Article
Chan AK, Han SJ, Choy W, Beleford D, Aghi MK, Berger MS, Shieh JT, Bollen AW, Perry A, Phillips JJ, Butowski N, Solomon DA
Clin Neuropathol 2017 Sep/Oct;36(5):213-221. doi: 10.5414/NP301022. PMID: 28699883Free PMC Article
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
BMC Med Genet 2014 May 17;15:59. doi: 10.1186/1471-2350-15-59. PMID: 24884915Free PMC Article
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. PMID: 10630172

Prognosis

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. PMID: 10630172

Clinical prediction guides

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. PMID: 10630172

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