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Melanoma-pancreatic cancer syndrome(FAMMMPC)

MedGen UID:
325450
Concept ID:
C1838547
Disease or Syndrome
Synonyms: Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome; FAMMMPC Syndrome; Melanoma-Pancreatic Cancer Syndrome
 
Gene (location): CDKN2A (9p21.3)
 
Monarch Initiative: MONDO:0011713
OMIM®: 606719

Definition

Melanoma-pancreatic cancer syndrome is an inherited cancer predisposition syndrome in which mutation carriers have an increased risk of developing malignant melanoma and/or pancreatic cancer. Mutation carriers within families may develop either or both types of cancer (summary by Harinck et al., 2012). For background and phenotypic information on malignant melanoma and pancreatic cancer, see 155600 and 260350, respectively. [from OMIM]

Clinical features

From HPO
Squamous cell carcinoma
MedGen UID:
2874
Concept ID:
C0007137
Neoplastic Process
The presence of squamous cell carcinoma of the skin.
Melanoma
MedGen UID:
9944
Concept ID:
C0025202
Neoplastic Process
Melanoma 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.\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 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\nMost 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).
Oropharyngeal squamous cell carcinoma
MedGen UID:
76094
Concept ID:
C0280313
Neoplastic Process
A squamous cell carcinoma that originates in the oropharnyx.
Sarcoma
MedGen UID:
224714
Concept ID:
C1261473
Neoplastic Process
A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant.
Pancreatic adenocarcinoma
MedGen UID:
83800
Concept ID:
C0281361
Neoplastic Process
The presence of an adenocarcinoma of the pancreas.
Pancreatic squamous cell carcinoma
MedGen UID:
393937
Concept ID:
C2675993
Finding
A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Melanoma-pancreatic cancer syndrome in Orphanet.

Recent clinical studies

Etiology

Jeong AR, Forbes K, Orosco RK, Cohen EEW
J Otolaryngol Head Neck Surg 2022 Feb 5;51(1):5. doi: 10.1186/s40463-022-00556-y. PMID: 35123577Free PMC Article
Bottillo I, Valiante M, Menale L, Paiardini A, Papi L, Janson G, Sestini R, Iorio A, De Simone P, Frascione P, Grammatico P
Dermatol Online J 2020 Aug 15;26(8) PMID: 32941720
Noë M, Hackeng WM, de Leng WWJ, Vergeer M, Vleggaar FP, Morsink FHM, Wood LD, Hruban RH, Offerhaus GJA, Brosens LAA
Am J Surg Pathol 2019 Sep;43(9):1297-1302. doi: 10.1097/PAS.0000000000001314. PMID: 31261289
Bartsch DK, Gress TM, Langer P
Nat Rev Gastroenterol Hepatol 2012 Aug;9(8):445-53. Epub 2012 Jun 5 doi: 10.1038/nrgastro.2012.111. PMID: 22664588

Diagnosis

Jeong AR, Forbes K, Orosco RK, Cohen EEW
J Otolaryngol Head Neck Surg 2022 Feb 5;51(1):5. doi: 10.1186/s40463-022-00556-y. PMID: 35123577Free PMC Article
Noë M, Hackeng WM, de Leng WWJ, Vergeer M, Vleggaar FP, Morsink FHM, Wood LD, Hruban RH, Offerhaus GJA, Brosens LAA
Am J Surg Pathol 2019 Sep;43(9):1297-1302. doi: 10.1097/PAS.0000000000001314. PMID: 31261289

Prognosis

Jeong AR, Forbes K, Orosco RK, Cohen EEW
J Otolaryngol Head Neck Surg 2022 Feb 5;51(1):5. doi: 10.1186/s40463-022-00556-y. PMID: 35123577Free PMC Article
Pittman ME, Brosens LA, Wood LD
Surg Pathol Clin 2016 Dec;9(4):705-715. Epub 2016 Oct 12 doi: 10.1016/j.path.2016.05.012. PMID: 27926368

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