Case 6-2004: A 48-year-Old Woman with Multiple Pigmented Lesions and a Personal and Family History of Melanoma

New England Journal of Medicine

Volumn 350, Issue 9, 2004, Pages 924-932

  Tsao, Hensin ^a,b   Sober, Arthur J ^a,b   Niendorf, Kristin Baker ^a   Zembowicz, Artur ^a,b  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P14; PROTEIN P16; PROTEIN P53; SUNSCREEN; CDK4 PROTEIN, HUMAN; CYCLIN DEPENDENT KINASE; CYCLIN DEPENDENT KINASE 4; ONCOPROTEIN;

ADULT; ANAMNESIS; ARTICLE; CANCER GROWTH; CASE REPORT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DYSPLASTIC NEVUS; EXCISION; FAMILY HISTORY; FEMALE; FOLLOW UP; GENE FUNCTION; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC RISK; HIGH RISK PATIENT; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MELANOMA; MUTATIONAL ANALYSIS; PATIENT CARE; PATIENT MONITORING; PIGMENT DISORDER; PRACTICE GUIDELINE; PRIORITY JOURNAL; SUN EXPOSURE; TUMOR BIOPSY; BIOPSY; CLINICAL OBSERVATION; CLINICAL STUDY; DIAGNOSIS; GENETICS; MALE; MIDDLE AGED; MUTATION; PATHOLOGY; PEDIGREE; PIGMENTED NEVUS; SKIN TUMOR; TUMOR SUPPRESSOR GENE;

BIOPSY; CYCLIN-DEPENDENT KINASE 4; CYCLIN-DEPENDENT KINASES; DIAGNOSIS, DIFFERENTIAL; DYSPLASTIC NEVUS SYNDROME; FEMALE; GENES, P16; GENETIC COUNSELING; GERM-LINE MUTATION; HUMANS; MALE; MELANOMA; MIDDLE AGED; NEVUS, PIGMENTED; PEDIGREE; PROTO-ONCOGENE PROTEINS; SKIN NEOPLASMS;

EID: 1342289321     PISSN: 00284793     EISSN: None     Source Type: Journal    
DOI: 10.1056/NEJMcpc030035     Document Type: Article

References (31)

1. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum: cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241-50.
2. Kraemer KH, Lee MM, Andrews AD, Lambert WC. The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer: the xeroderma pigmentosum paradigm. Arch Dermatol 1994;130:1018-21.
3. Clark WH Jr, Reimer RR, Greene M, Ainsworth AM, Mastrangelo MJ. Origin of familial malignant melanomas from heritable melanocytic lesions: 'the B-K mole syndrome.' Arch Dermatol 1978;114:723-8.
4. Lynch HT, Frichot BC III, Lynch JF. Familial atypical multiple mole-melanoma syndrome. J Med Genet 1978;15:352-6.
5. Elder DE, Green MH, Guerry D IV, Kraemer KH, Clark WH Jr. The dysplastic nevus syndrome: our definition. Am J Dermatopathol 1982;4:455-60.
6. NIH Consensus Development Panel on Early Melanoma. Diagnosis and treatment of early melanoma. JAMA 1992;268:1314-9.
7. Kopf AW, Friedman RJ, Rigel DS. Atypical mole syndrome. J Am Acad Dermatol 1990;22:117-8.
8. Kraemer KH, Greene MH, Tarone R, Elder DE, Clark WH Jr, Guerry D IV. Dysplastic naevi and cutaneous melanoma risk. Lancet 1983;2:1076-7.
9. Tucker MA, Halpern A, Holly EA, et al. Clinically recognized dysplastic nevi: a central risk factor for cutaneous melanoma. JAMA 1997;277:1439-44.
10. Garbe C, Kruger S, Stadler R, Guggenmoos-Holzmann I, Orfanos CE. Markers and relative risk in a German population for developing malignant melanoma. Int J Dermatol 1989;28:517-23.
11. Garbe C, Buttner P, Weiss J, et al. Risk factors for developing cutaneous melanoma and criteria for identifying persons at risk: multicenter case-control study of the Central Malignant Melanoma Registry of the German Dermatological Society. Int J Invest Dermatol 1994;102:695-9.
12. Grob JJ, Gouvernet J, Aymar D, et al. Count of benign melanocytic nevi as a major indicator ofrisk for nonfamilial nodular and superficial spreading melanoma. Cancer 1990;66:387-95.
13. Halpern AC, Guerry D IV, Elder DE, et al. Dyaplastic nevi as risk markers of sporadic (nonfamilial) melanoma: a case-control study. Arch Dermatol 1991;127:995-9.
14. Ford D, Bliss JM, Swerdlow AJ, et al. Risk of cutaneous melanoma associated with a family history of the disease. Int J Cancer 1995;62:377-81.
15. Kennedr C, ter Huurne J, Berkbout M, et al. Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol 2001;117:294-300.
16. Box HF, Duffy DL, Chen W, et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 2001;69:765-73.
17. Valverde P, Healy E, Sikkink S, et al. The Asp84Glu variant of the melanocortin 1 receptor (MC1R.) is associated with melanoma. Hum Mol Genet 1996;5:1663-6.
18. Gillanders E, Hank Juo SH, Holland EA, et al. Localization of a novel melanoma susceptibility locus to 1p22. Am J Hum Genet 2003;73:301-13.
19. Piepkorn M. Melanoma genetics: an update with focus on the CDKN2A(p16)/ARF tumor suppressors. J Am Acad Dermatol 2000;42:705-26.
20. Kamb A, Gruis NA, Weaver-Feldhaus J, et al. A cell cycle regulator potentially involved in genesis of many tumor types. Science 1994;264:436-40.
21. Hussussian CJ, Struewing JP, Goldstein AM, et al. Germline p16 mutations in familial melanoma. Nat Genet 1994;8:15-21.
22. Harland M, Mistry S, Bishop DT, Bishop JA. A deep intronic mutation in CDKN2A is associated with disease in a subset of melanoma pedigrees. Hum Mol Genet 2001;10: 2679-86.
23. Kefford RF, Newton Bishop JA, Bergman W, Tucker MA. Counseling and DNA testing for individuals perceived to be genetically predisposed to melanoma: a consensus statement of the Melanoma. Genetics Consortium. J Clin Oncol 1999;17:324-51.
24. Bishop DT, Demenais F, Goldstein AM, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 2002;94:894-903.
25. Kefford R, Bishop JN, Tucker M, et al. Genetic testing for melanoma. Lancet Oncol 2002;3:653-4.
26. Hall MA, Rich SS. Laws restricting health insurers' use of genetic information: impact on genetic discrimination. Am J Hum Genet 2000;66:293-307.
27. Monzon J, Liu L, Brill H, et al. CDKN2A mutations in multiple primary melanomas. N Engl J Med 1998;338:879-87.
28. Burke W. Genetic testing. N Engl J Med 2002;347:1867-75.
29. Goldstein AM, Tucker MA. Screening for CDKN2A mutations in hereditary melanoma. J Natl Cancer Inst 1997;89:676-8.
30. Holland EA, Schmid H Kefford RF, Mann GJ. CDKN2A (P16(INK4a)) and CDK4 mutation analysis in 131 Australian melanoma probands: effect of family history and multiple primary melanomas. Genes Chromosomes Cancer 1999;25:339-48.
31. Wachsmuth RC, Gaut RM, Barrett JH, et al. Heritability and gene-environment interaction for melanocytic nevus density examined in a U.K. adolescent twin study. J Invest Dermatol 2001;117:348-52.