Cytogenetic and Mutational Analyses of Melanocytic Tumors

Dermatologic Clinics

Volumn 30, Issue 4, 2012, Pages 555-566

  Gerami, Pedram ^a   Busam, Klaus J ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Fluorescence in situ hybridization; Melanoma; Mutation; Nevus

Indexed keywords

B RAF KINASE; CYCLIN D1; EOSIN; HEMATOXYLIN; NRAS PROTEIN; ONCOPROTEIN; PROTEIN GNA11; PROTEIN GNAQ; RAS RESPONSIVE ELEMENT BINDING PROTEIN 1; STEM CELL FACTOR; UNCLASSIFIED DRUG;

BRAF GENE; CANCER LOCALIZATION; CANCER PROGNOSIS; CANCER STAGING; CHROMOSOME ABERRATION; CLINICAL EFFECTIVENESS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; FALSE POSITIVE RESULT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GOLD STANDARD; HISTOPATHOLOGY; HUMAN; INTERMETHOD COMPARISON; KIT GENE; MELANOCYTIC NEVUS; MELANOMA; METASTASIS; MOLECULAR PATHOLOGY; MUTATIONAL ANALYSIS; MUTATOR GENE; NEVUS; NODAL NEVUS; ONCOGENE MYC; ONCOGENE N RAS; POINT MUTATION; PRIMARY NEVUS; PRIORITY JOURNAL; REVIEW; SENSITIVITY AND SPECIFICITY; UVEA MELANOMA;

COMPARATIVE GENOMIC HYBRIDIZATION; DNA MUTATIONAL ANALYSIS; GTP-BINDING PROTEIN ALPHA SUBUNITS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MELANOMA; NEVUS, PIGMENTED; PROTO-ONCOGENE PROTEINS B-RAF; PROTO-ONCOGENE PROTEINS C-KIT; RAS PROTEINS; SKIN NEOPLASMS;

EID: 84866793654     PISSN: 07338635     EISSN: 15580520     Source Type: Journal    
DOI: 10.1016/j.det.2012.06.015     Document Type: Review

References (66)

1. Reed R.J. Minimal deviation melanoma. Borderline and intermediate melanocytic neoplasia. Clin Lab Med 2000, 20(4):745-758.
2. Magro C.M., Crowson A.N., Mihm M.C., et al. The dermal-based borderline melanocytic tumor: a categorical approach. J Am Acad Dermatol 2010, 62(3):469-479.
3. Kim J.C., Murphy G.F. Dysplastic melanocytic nevi and prognostically indeterminate nevomelanomatoid proliferations. Clin Lab Med 2000, 20(4):691-712.
4. Reed R.J. Atypical Spitz nevus/tumor. Hum Pathol 1999, 30(12):1523-1526.
5. Barnhill R.L., Argenyi Z.B., From L., et al. Atypical Spitz nevi/tumors: lack of consensus for diagnosis, discrimination from melanoma, and prediction of outcome. Hum Pathol 1999, 30(5):513-520.
6. Busam K.J., Murali R., Pulitzer M., et al. Atypical Spitzoid melanocytic tumors with positive sentinel lymph nodes in children and teenagers, and comparison with histologically unambiguous and lethal melanomas. Am J Surg Pathol 2009, 33(9):1386-1395.
7. Massi D., Cesinaro A.M., Tomasini C., et al. Atypical Spitzoid melanocytic tumors: a morphological, mutational, and FISH analysis. J Am Acad Dermatol 2011, 64(5):919-935.
8. Urso C. The atypical Spitz tumor of uncertain biologic potential: a series of 67 patients from a single institution. Cancer 2010, 116(1):258. [author reply: 258-9].
9. Ludgate M.W., Fullen D.R., Lee J., et al. The atypical Spitz tumor of uncertain biologic potential: a series of 67 patients from a single institution. Cancer 2009, 115(3):631-641.
10. Tom W.L., Hsu J.W., Eichenfield L.F., et al. Pediatric " STUMP" lesions: evaluation and management of difficult atypical Spitzoid lesions in children. J Am Acad Dermatol 2011, 64(3):559-572.
11. Barnhill R.L., Argenyi Z., Berwick M., et al. Atypical cellular blue nevi (cellular blue nevi with atypical features): lack of consensus for diagnosis and distinction from cellular blue nevi and malignant melanoma (" malignant blue nevus"). Am J Surg Pathol 2008, 32(1):36-44.
12. Mones J.M., Ackerman A.B. " Atypical" blue nevus, " malignant" blue nevus, and " metastasizing" blue nevus: a critique in historical perspective of three concepts flawed fatally. Am J Dermatopathol 2004, 26(5):407-430.
13. Busam K.J., Pulitzer M. Sentinel lymph node biopsy for patients with diagnostically controversial Spitzoid melanocytic tumors?. Adv Anat Pathol 2008, 15(5):253-262.
14. Bastian B.C., LeBoit P.E., Pinkel D. Mutations and copy number increase of HRAS in Spitz nevi with distinctive histopathological features. Am J Pathol 2000, 157(3):967-972.
15. Bauer J., Bastian B.C. Distinguishing melanocytic nevi from melanoma by DNA copy number changes: comparative genomic hybridization as a research and diagnostic tool. Dermatol Ther 2006, 19(1):40-49.
16. Gerami P., Jewell S.S., Morrison L.E., et al. Fluorescence in situ hybridization (FISH) as an ancillary diagnostic tool in the diagnosis of melanoma. Am J Surg Pathol 2009, 33(8):1146-1156.
17. McCalmont T.H., Vemula S., Sands P., et al. Molecular-microscopical correlation in dermatopathology. J Cutan Pathol 2011, 38(4):324-326. 323.
18. Bastian B.C., Olshen A.B., LeBoit P.E., et al. Classifying melanocytic tumors based on DNA copy number changes. Am J Pathol 2003, 163(5):1765-1770.
19. Kallioniemi A., Kallioniemi O.P., Sudar D., et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 1992, 258(5083):818-821.
20. Bauer J., Bastian B.C. Pathologe 2007, 28(6):464-473. [in German].
21. Gerami P., Zembowicz A. Update on fluorescence in situ hybridization in melanoma: state of the art. Arch Pathol Lab Med 2011, 135(7):830-837.
22. Bastian B.C., Wesselmann U., Pinkel D., et al. Molecular cytogenetic analysis of Spitz nevi shows clear differences to melanoma. J Invest Dermatol 1999, 113(6):1065-1069.
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(12):1783-1788.
24. Wiesner T., Murali R., Fried I., et al. A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. Am J Surg Pathol 2012, 36(6):818-830.
25. Wiesner T., Obenauf A.C., Murali R., et al. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet 2011, 43(10):1018-1021.
26. 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(1):81-88.
27. Gerami P., Jewell S.S., 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(3):352-358.
28. Fang Y., Wang X., Dusza S., et al. Use of fluorescence in situ hybridization to distinguish metastatic uveal from cutaneous melanoma. Int J Surg Pathol 2012, 20(3):246-251.
29. Hantschke M., Mentzel T., Rutten A., et al. Cutaneous clear cell sarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 12 cases emphasizing its distinction from dermal melanoma. Am J Surg Pathol 2010, 34(2):216-222.
30. 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(5):613-623.
31. Moore M.W., Gasparini R. FISH as an effective diagnostic tool for the management of challenging melanocytic lesions. Diagn Pathol 2011, 6:76.
32. Hossain D., Qian J., Adupe J., et al. Differentiation of melanoma and benign nevi by fluorescence in-situ hybridization. Melanoma Res 2011, 21(5):426-430.
33. Fang Y, Dusza S, Jhanwar S, et-al. Fluorescence in situ hybridization (FISH) analysis of melanocytic nevi and melanomas: sensitivity, specificity, and lack of association with sentinel node status. Int J Surg Pathol, in press.
34. Busam K.J., Fang Y., Jhanwar S.C., et al. Distinction of conjunctival melanocytic nevi from melanomas by fluorescence in situ hybridization. J Cutan Pathol 2010, 37(2):196-203.
35. 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(4):329-334.
36. 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(9):1396-1400.
37. Boone S.L., Busam K.J., Marghoob A.A., et al. Two cases of multiple Spitz nevi: correlating clinical, histologic, and fluorescence in situ hybridization findings. Arch Dermatol 2011, 147(2):227-231.
38. Isaac A.K., Lertsburapa T., Pathria Mundi J., et al. Polyploidy in Spitz nevi: a not uncommon karyotypic abnormality identifiable by fluorescence in situ hybridization. Am J Dermatopathol 2010, 32(2):144-148.
39. Newman M.D., Lertsburapa T., Mirzabeigi M., et al. Fluorescence in situ hybridization as a tool for microstaging in malignant melanoma. Mod Pathol 2009, 22(8):989-995.
40. Dalton S.R., Gerami P., Kolaitis N.A., et al. Use of fluorescence in situ hybridization (FISH) to distinguish intranodal nevus from metastatic melanoma. Am J Surg Pathol 2010, 34(2):231-237.
41. Cerroni L., Barnhill R., Elder D., et al. Melanocytic tumors of uncertain malignant potential: results of a tutorial held at the XXIX Symposium of the International Society of Dermatopathology in Graz, October 2008. Am J Surg Pathol 2010, 34(3):314-326.
42. Raskin L., Ludgate M., Iyer R.K., et al. Copy number variations and clinical outcome in atypical Spitz tumors. Am J Surg Pathol 2011, 35(2):243-252.
43. 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(3):413-419.
44. North J.P., Vetto J.T., Murali R., et al. Assessment of copy number status of chromosomes 6 and 11 by FISH provides independent prognostic information in primary melanoma. Am J Surg Pathol 2011, 35(8):1146-1150.
45. Hoglund M., Gisselsson D., Hansen G.B., et al. Dissecting karyotypic patterns in malignant melanomas: temporal clustering of losses and gains in melanoma karyotypic evolution. Int J Cancer 2004, 108(1):57-65.
46. Harbour J.W. The genetics of uveal melanoma: an emerging framework for targeted therapy. Pigment Cell Melanoma Res 2012, 25(2):171-181.
47. Shields C.L., Ganguly A., Bianciotto C.G., et al. Prognosis of uveal melanoma in 500 cases using genetic testing of fine-needle aspiration biopsy specimens. Ophthalmology 2011, 118(2):396-401.
48. Parrella P., Caballero O.L., Sidransky D., et al. Detection of c-myc amplification in uveal melanoma by fluorescent in situ hybridization. Invest Ophthalmol Vis Sci 2001, 42(8):1679-1684.
49. Enzinger F.M. Clear-cell sarcoma of tendons and aponeuroses. An analysis of 21 cases. Cancer 1965, 18:1163-1174.
50. Meis-Kindblom J.M. Clear cell sarcoma of tendons and aponeuroses: a historical perspective and tribute to the man behind the entity. Adv Anat Pathol 2006, 13(6):286-292.
51. Thway K., Fisher C. Tumors with EWSR1-CREB1 and EWSR1-ATF1 fusions: the current status. Am J Surg Pathol 2012, 36(7):e1-e11.
52. Gerami P., Mafee M., Lurtsbarapa T., et al. Sensitivity of fluorescence in situ hybridization for melanoma diagnosis using RREB1, MYB, Cep6, and 11q13 probes in melanoma subtypes. Arch Dermatol 2010, 146(3):273-278.
53. van Engen-van Grunsven A.C., van Dijk M.C., Ruiter D.J., et al. HRAS-mutated Spitz tumors: a subtype of Spitz tumors with distinct features. Am J Surg Pathol 2010, 34(10):1436-1441.
54. Van Raamsdonk C.D., Griewank K.G., Crosby M.B., et al. Mutations in GNA11 in uveal melanoma. N Engl J Med 2010, 363(23):2191-2199.
55. Brose M.S., Volpe P., Feldman M., et al. BRAF and RAS mutations in human lung cancer and melanoma. Cancer Res 2002, 62(23):6997-7000.
56. Davies H., Bignell G.R., Cox C., et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417(6892):949-954.
57. Jakob JA, Bassett RL Jr, Ng CS, et al. NRAS mutation status is an independent prognostic factor in metastatic melanoma. Cancer, in press. doi: 10.1002/cncr.26724.
58. Wilson M.A., Nathanson K.L. Molecular testing in melanoma. Cancer J 2012, 18(2):117-123.
59. Chapman P.B., Hauschild A., Robert C., et al. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011, 364(26):2507-2516.
60. Lee J.H., Choi J.W., Kim Y.S. Frequencies of BRAF and NRAS mutations are different in histological types and sites of origin of cutaneous melanoma: a meta-analysis. Br J Dermatol 2011, 164(4):776-784.
61. Bauer J., Curtin J.A., Pinkel D., et al. Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. J Invest Dermatol 2007, 127(1):179-182.
62. Van Raamsdonk C.D., Bezrookove V., Green G., et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 2009, 457(7229):599-602.
63. Emley A., Nguyen L.P., Yang S., et al. Somatic mutations in GNAQ in amelanotic/hypomelanotic blue nevi. Hum Pathol 2011, 42(1):136-140.
64. Carvajal R.D., Antonescu C.R., Wolchok J.D., et al. KIT as a therapeutic target in metastatic melanoma. JAMA 2011, 305(22):2327-2334.
65. Ross A.L., Sanchez M.I., Grichnik J.M. Molecular nevogenesis. Dermatol Res Pract 2011, 2011:463184.
66. Dessars B., De Raeve L.E., Morandini R., et al. Genotypic and gene expression studies in congenital melanocytic nevi: insight into initial steps of melanotumorigenesis. J Invest Dermatol 2009, 129(1):139-147.