Genetic and epigenetic alterations in the differential diagnosis of malignant melanoma and spitzoid lesion

British Journal of Dermatology

Volumn 156, Issue 6, 2007, Pages 1287-1294

  Takata, M ^a   Lin, J ^a   Takayanagi, S ^a   Suzuki, T ^a   Ansai, S ^b   Kimura, T ^b   Cerroni, L ^c   Saida, T ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b Sapporo Institute for Dermatopathology   (Japan)

^c MEDICAL UNIVERSITY OF GRAZ   (Austria)

Author keywords

Chromosomal aberrations; Differential diagnosis; Gene mutation; Melanoma; Spitz naevus

Indexed keywords

B RAF KINASE; CPG OLIGODEOXYNUCLEOTIDE; CYCLIN DEPENDENT KINASE INHIBITOR; CYCLIN DEPENDENT KINASE INHIBITOR 2A; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CHROMOSOME ABERRATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; DNA METHYLATION; DNA PROBE; EPIGENETICS; FEMALE; GENE SEQUENCE; GENETICS; HISTOPATHOLOGY; HUMAN; JUVENILE MELANOMA; MALE; MELANOMA; MUTATION; ONCOGENE H RAS; ONCOGENE N RAS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUMOR; TUMOR GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; MALE; MELANOMA; MIDDLE AGED; MUTATION; NEVUS, EPITHELIOID AND SPINDLE CELL; SKIN NEOPLASMS;

EID: 34447095064     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2007.07924.x     Document Type: Article

References (40)

1. Casso EM, Grin-Jorgensen CM, Grant-Kels JM. Spitz nevi. J Am Acad Dermatol 1992 27 : 901 13.
2. Corona R, Mele A, Amini M et al. Interobserver variability on the histopathologic diagnosis of cutaneous melanoma and other pigmented skin lesions. J Clin Oncol 1996 14 : 1218 23.
3. Farmer ER, Gonin R, Hanna MP. Discordance in the histopathologic diagnosis of melanoma and melanocytic nevi between expert pathologists. Hum Pathol 1996 27 : 528 31.
4. Barnhill RL, Argenyi ZB, From L et al. Atypical Spitz nevi/tumors: lack of consensus for diagnosis, discrimination from melanoma, and prediction of outcome. Hum Pathol 1999 30 : 513 20.
5. Veenhuizen KC, De Wit PE, Mooi WJ et al. Quality assessment by expert opinion in melanoma pathology: experience of the pathology panel of the Dutch Melanoma Working Party. J Pathol 1997 182 : 266 72.
6. Bastian BC, LeBoit PE, Hamm H et al. Chromosomal gains and losses in primary cutaneous melanomas detected by comparative genomic hybridization. Cancer Res 1998 58 : 2170 5.
7. Bastian BC, Wesselmann U, Pinkel D et al. Molecular cytogenetic analysis of Spitz nevi shows clear differences to melanoma. J Invest Dermatol 1999 113 : 1065 9.
8. Bastian BC, LeBoit PE, Pinkel D. Mutations and copy number increase of HRAS in Spitz nevi with distinctive histopathological features. Am J Pathol 2000 157 : 967 72.
9. Curtin JA, Fridlyand J, Kageshita T et al. Distinct sets of genetic alterations in melanoma. N Engl J Med 2005 353 : 2135 47.
10. van Dijk MC, Rombout PD, Mooi WJ et al. Allelic imbalance in the diagnosis of benign, atypical and malignant Spitz tumours. J Pathol 2002 197 : 170 8.
11. van Dijk MC, Bernsen MR, Ruiter DJ. Analysis of mutations in B-RAF, N-RAS, and H-RAS genes in the differential diagnosis of Spitz nevus and spitzoid melanoma. Am J Surg Pathol 2005 29 : 1145 51.
12. Healy E, Belgaid CE, Takata M et al. Allelotypes of primary cutaneous melanoma and benign melanocytic nevi. Cancer Res 1996 56 : 589 93.
13. Takata M, Suzuki T, Ansai S et al. Genome profiling of melanocytic tumors using multiplex ligation-dependent probe amplification (MLPA): its usefulness as an adjunctive diagnostic tool for melanocytic tumors. J Dermatol Sci 2005 40 : 51 7.
14. Curtin JA, Busam K, Pinkel D et al. Somatic activation of KIT in distinct subtypes of melanoma. J Clin Oncol 2006 24 : 4340 6.
15. Furuta J, Umebayashi Y, Miyamoto K et al. Promoter methylation profiling of 30 genes in human malignant melanoma. Cancer Sci 2004 95 : 962 8.
16. Hoon DS, Spugnardi M, Kuo C et al. Profiling epigenetic inactivation of tumor suppressor genes in tumors and plasma from cutaneous melanoma patients. Oncogene 2004 23 : 4014 22.
17. Koyanagi K, Mori T, O'Day SJ et al. Association of circulating tumor cells with serum tumor-related methylated DNA in peripheral blood of melanoma patients. Cancer Res 2006 66 : 6111 17.
18. Nygren AO, Ameziane N, Duarte HM et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res 2005 33 : e128.
19. Davies H, Bignell GR, Cox C et al. Mutations of the BRAF gene in human cancer. Nature 2002 417 : 949 54.
20. Takata M, Goto Y, Ichii N et al. Constitutive activation of the mitogen-activated protein kinase signaling pathway in acral melanomas. J Invest Dermatol 2005 125 : 318 22.
21. Spugnardi M, Tommasi S, Dammann R et al. Epigenetic inactivation of RAS association domain family protein 1 (RASSF1A) in malignant cutaneous melanoma. Cancer Res 2003 63 : 1639 43.
22. Mirmohammadsadegh A, Marini A, Nambiar S et al. Epigenetic silencing of the PTEN gene in melanoma. Cancer Res 2006 66 : 6546 52.
23. Barnhill RL. The spitzoid lesion: rethinking Spitz tumors, atypical variants, 'spitzoid melanoma' and risk assessment. Mod Pathol 2006 19 (Suppl. 2 S21 33.
24. Mones JM, Ackerman AB. 'Atypical' Spitz's nevus, 'malignant' Spitz's nevus, and 'metastasizing' Spitz's nevus: a critique in historical perspective of three concepts flawed fatally. Am J Dermatopathol 2004 26 : 310 33.
25. Hantschke M, Bastian BC, LeBoit PE. Consumption of the epidermis: a diagnostic criterion for the differential diagnosis of melanoma and Spitz nevus. Am J Surg Pathol 2004 28 : 1621 5.
26. Nitta Y, Ohkochi Y, Hara K. 'Malignant Spitz nevus' in a 2-year-old Japanese child. J Dermatol 1995 22 : 500 3.
27. Bastian BC. Molecular cytogenetics as a diagnostic tool for typing melanocytic tumors. Recent Results Cancer Res 2002 160 : 92 9.
28. Takata M, Saida T. Genetic alterations in melanocytic tumors. J Dermatol Sci 2006 43 : 1 10.
29. Fullen DR, Poynter JN, Lowe L et al. BRAF and NRAS mutations in spitzoid melanocytic lesions. Mod Pathol 2006 19 : 1324 32.
30. Pollock PM, Harper UL, Hansen KS et al. High frequency of BRAF mutations in nevi. Nat Genet 2003 33 : 19 20.
31. Welch J, Millar D, Goldman A et al. Lack of genetic and epigenetic changes in CDKN2A in melanocytic nevi. J Invest Dermatol 2001 117 : 383 4.
32. Ruiter DJ, van Dijk MC, Ferrier CM. Current diagnostic problems in melanoma pathology. Semin Cutan Med Surg 2003 22 : 33 41.
33. LeBoit PE. 'Safe' Spitz and its alternatives. Pediatr Dermatol 2002 19 : 163 5.
34. Urso C. A new perspective for Spitz tumors? Am J Dermatopathol 2005 27 : 364 6.
35. Cerroni L. A new perspective for Spitz tumors? Am J Dermatopathol 2005 27 : 366 7.
36. Bogdan I, Burg G, Boni R. Spitz nevi display allelic deletions. Arch Dermatol 2001 137 : 1417 20.
37. Bennett DC. Human melanocyte senescence and melanoma susceptibility genes. Oncogene 2003 22 : 3063 9.
38. Maldonado JL, Timmerman L, Fridlyand J, Bastian BC. Mechanisms of cell-cycle arrest in Spitz nevi with constitutive activation of the MAP-kinase pathway. Am J Pathol 2004 164 : 1783 7.
39. Lee DA, Cohen JA, Twaddell WS et al. Are all melanomas the same? Spitzoid melanoma is a distinct subtype of melanoma. Cancer 2006 106 : 907 13.
40. Gill M, Cohen J, Renwick N et al. Genetic similarities between Spitz nevus and spitzoid melanoma in children. Cancer 2004 101 : 2636 40.