Update in molecular diagnostics in melanocytic neoplasms

Advances in Anatomic Pathology

Volumn 19, Issue 6, 2012, Pages 410-416

  Cooper, Chelsea ^a   Sorrell, Jennifer ^a   Gerami, Pedram ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Fluorescence in situ hybridization; Melanoma; Nevi; Spitz nevi; Spitz tumor

Indexed keywords

B RAF KINASE; BRCA1 PROTEIN; VEMURAFENIB;

DRUG ACTIVITY; ENZYME ACTIVATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; JUVENILE MELANOMA; MELANOMA; MOLECULAR DIAGNOSIS; MUTATION; NEVUS; PRIORITY JOURNAL; REVIEW; SOMATIC MUTATION;

ANTINEOPLASTIC AGENTS; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 9; DYSPLASTIC NEVUS SYNDROME; GERM-LINE MUTATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INDOLES; MELANOMA; MOLECULAR DIAGNOSTIC TECHNIQUES; NEVUS, EPITHELIOID AND SPINDLE CELL; PROGNOSIS; SKIN NEOPLASMS; SULFONAMIDES; TRANSCRIPTIONAL ACTIVATION; UBIQUITIN-PROTEIN LIGASES;

EID: 84867931356     PISSN: 10724109     EISSN: 15334031     Source Type: Journal    
DOI: 10.1097/PAP.0b013e318271a5cb     Document Type: Review

References (48)

1. Jensen DE, Proctor M, Marquis ST, et al. BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression. Oncogene. 1998;16:1097-1112.
2. Nishikawa H, Wu W, Koike A, et al. BRCA1-associated protein 1 interferes with BRCA1/BARD1 RING heterodimer activity. Cancer Res. 2009;69:111-119.
3. Ventii KH, Devi NS, Friedrich KL, et al. BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization. Cancer Res. 2008;68: 6953-6962.
4. Machida YJ, Machida Y, Vashisht AA, et al. The deubiquitinating enzyme BAP1 regulates cell growth via interaction with HCF-1. J Biol Chem. 2009;284:34179-34188.
5. Julien E, Herr W. Proteolytic processing is necessary to separate and ensure proper cell growth and cytokinesis functions of HCF-1. EMBO J. 2003;22:2360-2369.
6. Wiesner T, Obenauf AC, Murali R, et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet. 2011;43:1018-1021.
7. Testa JR, Cheung M, Pei J, et al. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet. 2011;43: 1022-1025.
8. Abdel-Rahman MH, Pilarski R, Cebulla CM, et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet. 2011;48:856-859.
9. Pouryazdanparast P, Haghighat Z, Beilfuss BA, et al. Melanocytic nevi with an atypical epithelioid cell component: clinical, histopathologic, and fluorescence in situ hybridization findings. Am J Surg Pathol. 2011;35:1405-1412.
10. Neves SR, Ram PT, Iyengar R. G protein pathways. Science. 2002;296:1636-1639.
11. Landis CA, Masters SB, Spada A, et al. GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature. 1989;340:692-696.
12. Sondek J, Lambright DG, Noel JP, et al. GTPase mechanism of Gproteins from the 1.7-A crystal structure of transducin alpha-GDP-AIF-4. Nature. 1994;372:276-279.
13. Kalinec G, Nazarali AJ, Hermouet S, et al. Mutated alpha subunit of the Gq protein induces malignant transformation in NIH 3T3 cells. Mol Cell Biol. 1992;12:4687-4693.
14. Van Raamsdonk CD, Bezrookove V, Green G, et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature. 2009;457:599-602.
15. Van Raamsdonk CD, Fitch KR, Fuchs H, et al. Effects of G-protein mutations on skin color. Nat Genet. 2004;36: 961-968.
16. Van Raamsdonk CD, Griewank KG, Crosby MB, et al. Mutations in GNA11 in uveal melanoma. N Engl J Med. 2010;363:2191-2199.
17. Harbour JW. The genetics of uveal melanoma: an emerging framework for targeted therapy. Pigment Cell Melanoma Res. 2012;25:171-181.
18. 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: 2170-2175.
19. Bastian BC, Olshen AB, LeBoit PE, et al. Classifying melanocytic tumors based on DNA copy number changes. Am J Pathol. 2003;163:1765-1770.
20. Bastian BC, LeBoit PE, Pinkel D. Mutations and copy number increase of HRAS in spitz nevi with distinctive histopathological features. Am J Pathol. 2000;157:967-972.
21. Gerami P, Jewell SS, Morrison LE, et al. Fluorescence in situ hybridization (FISH) as an ancillary diagnostic tool in the diagnosis of melanoma. Am J Surg Pathol. 2009;33:1146-1156.
22. Gerami P, Li G, Pouryazdanparast P, et al. A highly specific and discriminatory FISH assay for distinguishing between benign and malignant melanocytic neoplasms. Am J Surg Pathol. 2012;36:808-817.
23. Gerami P, Wass A, Mafee M, et al. Fluorescence in situ hybridization for distinguishing nevoid melanomas from mitotically active nevi. Am J Surg Pathol. 2009;33:1783-1788.
24. Gammon B, Beilfuss B, Guitart J, et al. Fluorescence in situ hybridization for distinguishing cellular blue nevi from blue nevus-like melanoma. J Cutan Pathol. 2011;38:335-341.
25. Pouryazdanparast P, Newman M, Mafee M, et al. Distinguishing epithelioid blue nevus from blue nevus-like cutaneous melanoma metastasis using fluorescence in situ hybridization. Am J Surg Pathol. 2009;33:1396-1400.
26. Gerami P, Beilfuss B, Haghighat Z, et al. Fluorescence in situ hybridization as an ancillary method for the distinction of desmoplastic melanomas from sclerosing melanocytic nevi. J Cutan Pathol. 2011;38:329-334.
27. Kapur P, Selim MA, Roy LC, et al. Spitz nevi and atypical spitz nevi/tumors: a histologic and immunohistochemical analysis. Mod Pathol. 2005;18:197-204.
28. Lazzaro B, Elder DE, Rebers A, et al. Immunophenotyping of compound and spitz nevi and vertical growth-phase melanomas using a panel of monoclonal antibodies reactive in paraffin sections. J Invest Dermatol. 1993;100:313SY317S. 29. Magro CM, Yaniv S, Mihm MC. The superficial atypical spitz tumor and malignant melanoma of superficial spreading type arising in association with the superficial atypical spitz tumor: a distinct form of dysplastic spitzoid nevomelanocytic proliferation. J Am Acad Dermatol. 2009;60:814-823.
29. Sepehr A, Chao E, Trefrey B, et al. Long-term outcome of spitz-type melanocytic tumors. Arch Dermatol. 2011;147: 1173-1179.
30. Gammon B, Beilfuss B, Guitart J, et al. Enhanced detection of spitzoid melanomas using fluorescence in situ hybridization with 9p21 as an adjunctive probe. Am J Surg Pathol. 2012; 36:81-88.
31. George E, Polissar NL, Wick M. Immunohistochemical evaluation of p16INK4A, E-cadherin, and cyclin D1 expression in melanoma and spitz tumors. Am J Clin Pathol. 2010;133:370-379.
32. Garrido-Ruiz MC, Requena L, Ortiz P, et al. The immunohistochemical profile of spitz nevi and conventional (nonspitzoid) melanomas: a baseline study. Mod Pathol. 2010;23: 1215-1224.
33. Hilliard NJ, Krahl D, Sellheyer K. p16 expression differentiates between desmoplastic spitz nevus and desmoplastic melanoma. J Cutan Pathol. 2009;36:753-759.
34. 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;30:513-520.
35. 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;14:1218-1223.
36. Vergier B, Prochazkova-Carlotti M, de la Fouchardiere A, et al. Fluorescence in situ hybridization, a diagnostic aid in ambiguous melanocytic tumors: European study of 113 cases. Mod Pathol. 2011;24:613-623.
37. Massi D, Cesinaro AM, Tomasini C, et al. Atypical spitzoid melanocytic tumors: a morphological, mutational, and FISH analysis. J Am Acad Dermatol. 2011;64:919-935.
38. Gaiser T, Kutzner H, Palmedo G, et al. Classifying ambiguous melanocytic lesions with FISH and correlation with clinical long-term follow up. Mod Pathol. 2010;23:413-419.
39. Raskin L, Ludgate M, Iyer RK, et al. Copy number variations and clinical outcome in atypical spitz tumors. Am J Surg Pathol. 2011;35:243-252.
40. Ludgate MW, Fullen DR, Lee J, et al. The atypical spitz tumor of uncertain biologic potential: a series of 67 patients from a single institution. Cancer. 2009;115:631-641.
41. Gerami P, Jewell SS, Pouryazdanparast P, et al. Copy number gains in 11q13 and 8q24 [corrected] are highly linked to prognosis in cutaneous malignant melanoma. J Mol Diagn. 2011;13:352-358.
42. Pouryazdanparast P, Cowen DP, Beilfuss BA, et al. Distinctive clinical and histologic features in cutaneous melanoma with copy number gains in 8q24. AmJ Surg Pathol. 2012;36:253-264.
43. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature. 2002;417:949-954.
44. Chapman PB, Hauschild A, Robert C, et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;364:2507-2516.
45. Dalle S, Poulalhon N, Thomas L. Vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med. 2011;365:1448-1449, author reply 1450.
46. Gerami P, Sorrell J, Martini M. Dermoscopic evolution of dysplastic nevi showing high grade dysplasia in a metastatic melanoma patient on vemurafenib. J Am Acad Dermatol. 2012. (In press).
47. Poulikakos PI, Zhang C, Bollag G, et al. RAF inhibitors transactivate RAF dimers and ERK signalling in cells with wild-type BRAF. Nature. 2010;464:427-430.
48. Hatzivassiliou G, Song K, Yen I, et al. RAF inhibitors prime wild-type RAF to activate the MAPK pathway and enhance growth. Nature. 2010;464:431-435.