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Review Article| Volume 33, ISSUE 4, P881-890, December 2013

Current Applications of Molecular Genetic Technologies to the Diagnosis and Treatment of Cutaneous Melanocytic Neoplasms

Published:October 17, 2013DOI:https://doi.org/10.1016/j.cll.2013.08.008

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      References

        • Gerami P.
        • Zembowicz A.
        Update on fluorescence in situ hybridization in melanoma.
        Arch Pathol Lab Med. 2011; 135: 830-837
        • Zembowicz A.
        • Prieto V.
        Melanocytic lesions: current state of knowledge—part II.
        Arch Pathol Lab Med. 2011; 135: 298-299
        • Zembowicz A.
        • Scolyer R.
        Nevus/melanocytoma/melanoma.
        Arch Pathol Lab Med. 2011; 135: 300-306
        • Zedek D.
        • McCalmont T.
        Spitz nevi, atypical Spitzoid neoplasms, and Spitzoid melanoma.
        Clin Lab Med. 2011; 31: 311-320
        • Paradela S.
        • Fonseca E.
        • Prieto V.
        Melanoma in children.
        Arch Pathol Lab Med. 2011; 135: 307-316
        • Paradela S.
        • Fonseca E.
        • Pita-Fernandez S.
        • et al.
        Spitzoid and non-Spitzoid melanoma in children, a prognostic comparative study.
        J Eur Acad Dermatol Venereol. 2013; 27: 1214-1221https://doi.org/10.1111/j.1468-3083
        • Ludgate M.
        • Fullen D.
        • Lee J.
        • et al.
        The atypical Spitz tumor of uncertain biologic potential.
        Cancer. 2009; 115: 631-641
        • Sepehr A.
        • Chao E.
        • Trefrey B.
        • et al.
        Long-term outcome of Spitz-type melanocytic tumors.
        Arch Dermatol. 2011; 147: 1173-1179
        • Curtin J.
        • Fridlyand J.
        • Kageshita T.
        • et al.
        Distinct sets of genetic alterations in melanoma.
        N Engl J Med. 2005; 353: 2135-2147
        • Handolias D.
        • Hamilton A.
        • Salemi R.
        • et al.
        Clinical responses observed with imatinib or sorafenib in melanoma patients expressing mutations in KIT.
        Br J Cancer. 2010; 102: 1219-1223
        • Raskin L.
        • Ludgate M.
        • Iyer R.
        • et al.
        Copy number variations and clinical outcome in atypical Spitz tumors.
        Am J Surg Pathol. 2011; 35: 243-252
        • van Engen-van Grunsven A.
        • van Dijk M.
        • Ruiter D.
        • et al.
        HRAS-mutated Spitz tumors, a subtype of Spitz tumors with distinct features.
        Am J Surg Pathol. 2010; 34: 1436-1441
        • Busam K.
        • Sung J.
        • Wiesner T.
        • et al.
        Combined BRAFV600E-positive melanocytic lesions with large epithelioid cells lacking BAP1 expression and conventional nevomelanocytes.
        Am J Surg Pathol. 2013; 37: 193-199
        • Shen L.
        • Cooper C.
        • Bajaj S.
        • et al.
        Atypical Spitz tumors with 6q23 deletions: a clinical, histological, and molecular study.
        Am J Dermatopathol. 2013; (Accessed July 28, 2013.)https://doi.org/10.1097/DAD.0b013e31828671bf
        • Gerami P.
        • Jewell S.
        • Morrison L.
        • 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
        • McCalmont T.
        Fillet of FISH.
        J Cutan Pathol. 2011; 38: 327-328
        • 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
        • 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
        • Pouryazdanparast P.
        • Newman M.
        • Mafee M.
        • et al.
        Distinguishing epithelioid blue nevus from blue nevus-like melanoma using fluorescence in situ hybridization.
        Am J Surg Pathol. 2009; 33: 1396-1400
        • Gerami P.
        • Jewell S.
        • Pouryazdanparast P.
        • et al.
        Copy number gains in 11q13 and 8q34 are highly linked to prognosis in cutaneous malignant melanoma.
        J Mol Diagn. 2011; 13: 352-358
        • Gerami P.
        • Scolyer R.
        • Xu X.
        • et al.
        Risk assessment for atypical Spitzoid melanocytic neoplasms using FISH to identify chromosomal copy number aberrations.
        Am J Surg Pathol. 2013; 37: 676-684
        • Braun-Falco M.
        • Schempp W.
        • Weyers W.
        Molecular diagnosis in dermatopathology: what makes sense, and what doesn't.
        Exp Dermatol. 2008; 18: 12-23
        • Held L.
        • Metzler G.
        • Eigentler T.
        • et al.
        Recurrent nodules in a periauricular plaque-type blue nevus with fatal outcome.
        J Cutan Pathol. 2012; 39: 1088-1093
        • Ives N.
        • Stowe R.
        • Lorigan P.
        • et al.
        Chemotherapy compared with biochemotherapy for the treatment of metastatic melanoma: a meta-analysis of 18 trials involving 2,621 patients.
        J Clin Oncol. 2007; 253: 5426-5434
        • Julia F.
        • Thomas L.
        • Dalle S.
        New therapeutical strategies in the treatment of metastatic disease.
        Dermatol Ther. 2012; 25: 452-457
        • O’Day S.
        • Hamid O.
        • Urba W.
        Targeting cytotoxic T-lymphocyte antigen-4 (CTLA-4): a novel strategy for the treatment of melanoma and other malignancies.
        Cancer. 2007; 110: 2614-2627
        • Fong L.
        • Small E.
        Anti-cytotoxic T-lymphocyte antigen-4 antibody: the first in an emerging class of immunomodulatory antibodies for cancer treatment.
        J Clin Oncol. 2008; 26: 5275-5283
        • Robert C.
        • Ghiringhelli F.
        What is the role of cytotoxic T lymphocyte-associated antigen 4 blockade in patients with metastatic melanoma?.
        Oncologist. 2009; 14: 848-861
        • Hodi F.
        • O’Day S.
        • McDermott D.
        • et al.
        Improved survival with ipilimumab in patients with metastatic melanoma.
        N Engl J Med. 2010; 363: 711-723
        • Davies H.
        • Bignell G.
        • Cox C.
        • et al.
        Mutations of the BRAF gene in human cancer.
        Nature. 2002; 417: 949-954
        • Chapman P.
        • Hauschild A.
        • Robert C.
        • et al.
        BRIM-3 Study Group. Improved survival with vemurafenib in melanoma with BRAF V600E mutation.
        N Engl J Med. 2011; 364: 2507-2516
      1. Available at: http://www.zelboraf.com. Accessed September 7, 2013.

        • Ribas A.
        • Kim K.
        • Schuchter L.
        BRIM-2: an open label, multicenter phase II study of vemurafenib in previously treated patients with BRAF V600E mutation-positive metastatic melanoma.
        J Clin Oncol. 2011; 29 ([abstract: 8509])
      2. A study of RO5185426 in comparison with dacarbazine in previously untreated patients with metastatic melanoma (BRIM 3). Available at: http://clinicaltrials.gov/show/NCT01006980. Accessed September 7, 2013.

        • Schwartzentruber D.
        • Lawson D.
        • Richards J.
        • et al.
        gp100 peptide vaccine and interleukin-2 in patients with advanced melanoma.
        N Engl J Med. 2011; 364: 2119-2127
        • Heidorn S.
        • Milagre C.
        • Whittaker S.
        • et al.
        Kinase-dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF.
        Cell. 2010; 140: 209-221
        • 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
        • Poulikakos P.
        • 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
      3. Investigational drug, GSK2118436 (dabrafenib), reported to demonstrate clinical activity in BRAF-mutant patients with brain metastases (BREAK-MB trial). Available at: http://clinicaltrials.gov/show/NCT01266967. Accessed September 7, 2013.

        • Hodi F.
        • Friedlander P.
        • Corless C.
        • et al.
        Major response to imatinib mesylate in KIT-mutated melanoma.
        J Clin Oncol. 2008; 26: 2046-2051
        • Wyman K.
        • Atkins M.
        • Prieto V.
        • et al.
        Multicenter phase II trial of high-dose imatinib mesylate in metastatic melanoma: significant toxicity with no clinical efficacy.
        Cancer. 2006; 106: 2005-2011
        • Kim K.
        • Eton O.
        • Davis D.
        • et al.
        Phase II trial of imatinib mesylate in patients with metastatic melanoma.
        Br J Cancer. 2008; 99: 734-740
        • Ugurel S.
        • Hildenbrand R.
        • Zimpfer A.
        • et al.
        Lack of clinical efficacy of imatinib in metastatic melanoma.
        Br J Cancer. 2005; 92: 1398-1405
        • Carvajal R.
        • Antonescu C.
        • Wolchok J.
        • et al.
        KIT as a therapeutic target in metastatic melanoma.
        JAMA. 2011; 305: 2327-2334
        • Guo J.
        • Si L.
        • Kong Y.
        • et al.
        Phase II, open-label, single-arm trial of imatinib mesylate in patients with metastatic melanoma harboring c-Kit mutation or amplification.
        J Clin Oncol. 2011; 29: 2904-2909