NF1 mutations are common in desmoplastic melanoma

American Journal of Surgical Pathology

Volumn 39, Issue 10, 2015, Pages 1357-1362

  Wiesner, Thomas ^a   Kiuru, Maija ^a   Scott, Sasinya N ^a   Arcila, Maria ^a   Halpern, Allan C ^a   Hollmann, Travis ^a   Berger, Michael F ^a   Busam, Klaus J ^a  

^a MEMORIAL SLOAN KETTERING CANCER CENTER   (United States)

Author keywords

Desmoplastic melanoma; Mutation; Neurofibromin 1; Next generation sequencing

Indexed keywords

TUMOR MARKER;

ADULT; AGED; FEMALE; GENETIC PREDISPOSITION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MELANOMA; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHENOTYPE; PROCEDURES; SKIN TUMOR; TUMOR SUPPRESSOR GENE; VERY ELDERLY; YOUNG ADULT;

ADULT; AGED; AGED, 80 AND OVER; BIOMARKERS, TUMOR; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, NEUROFIBROMATOSIS 1; GENETIC PREDISPOSITION TO DISEASE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MELANOMA; MIDDLE AGED; MUTATION; PHENOTYPE; SKIN NEOPLASMS; YOUNG ADULT;

EID: 84941760992     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0000000000000451     Document Type: Article

References (39)

1. Chen LL, Jaimes N, Barker CA, et al. Desmoplastic melanoma: a review. J Am Acad Dermatol. 2013;68:825-833.
2. Conley J, Lattes R, Orr W. Desmoplastic malignant melanoma (a rare variant of spindle cell melanoma). Cancer. 1971;28:914-936.
3. Busam KJ. Cutaneous desmoplastic melanoma. Adv Anat Pathol. 2005;12:92-102.
4. Lens MB, Newton-Bishop JA, Boon AP. Desmoplastic malignant melanoma: a systematic review. Br J Dermatol. 2005;152:673-678.
5. Hadj-Rabia S, Oriot D, Soufir N, et al. Unexpected extradermatological findings in 31 patients with xeroderma pigmentosum type C. Br J Dermatol. 2013;168:1109-1113.
6. Arora A, Lowe L, Su L, et al. Wide excision without radiation for desmoplastic melanoma. Cancer. 2005;104:1462-1467.
7. Gyorki DE, Busam K, Panageas K, et al. Sentinel lymph node biopsy for patients with cutaneous desmoplastic melanoma. Ann Surg Oncol. 2003;10:403-407.
8. Busam KJ, Mujumdar U, Hummer AJ, et al. Cutaneous desmoplastic melanoma: reappraisal of morphologic heterogeneity and prognostic factors. Am J Surg Pathol. 2004;28:1518-1525.
9. Hawkins WG, Busam KJ, Ben-Porat L, et al. Desmoplastic melanoma: a pathologically and clinically distinct form of cutaneous melanoma. Ann Surg Oncol. 2005;12:207-213.
10. George E, McClain SE, Slingluff CL, et al. Subclassification of desmoplastic melanoma: pure and mixed variants have significantly different capacities for lymph node metastasis. J Cutan Pathol. 2009;36:425-432.
11. Pawlik TM, Ross MI, Prieto VG, et al. Assessment of the role of sentinel lymph node biopsy for primary cutaneous desmoplastic melanoma. Cancer. 2006;106:900-906.
12. Busam KJ, Iversen K, Coplan KC, et al. Analysis of microphthalmia transcription factor expression in normal tissues and tumors, and comparison of its expression with S-100 protein, gp100, and tyrosinase in desmoplastic malignant melanoma. Am J Surg Pathol. 2001;25:197-204.
13. Radfar A, Stefanato CM, Ghosn S, et al. NGFR-positive desmoplastic melanomas with focal or absent S-100 staining: Further evidence supporting the use of both NGFR and S-100 as a primary immunohistochemical panel for the diagnosis of desmoplastic melanomas. Am J Dermatopathol. 2006;28:162-167.
14. Palla B, Su A, Binder S, et al. SOX10 expression distinguishes desmoplastic melanoma from its histologic mimics. Am J Dermatopathol. 2013;35:576-581.
15. Nonaka D, Chiriboga L, Rubin BP. Differential expression of S100 protein subtypes in malignant melanoma, and benign and malignant peripheral nerve sheath tumors. J Cutan Pathol. 2008; 35:1014-1019.
16. Kiuru M, McDermott G, Berger M, et al. Desmoplastic melanoma with sarcomatoid dedifferentiation. Am J Surg Pathol. 2014;38: 864-870.
17. Gutzmer R, Herbst RA, Mommert S, et al. Allelic loss at the neurofibromatosis type 1 (NF1) gene locus is frequent in desmoplastic neurotropic melanoma. Hum Genet. 2000;107:357-361.
18. Rubinstein TJ, Plesec TP, Singh AD. Desmoplastic melanoma of the eyelid and conjunctival melanoma in neurofibromatosis type 1: a clinical pathological correlation. Surv Ophthalmol. 2015;60:72-77.
19. Upadhyaya M, Kluwe L, Spurlock G, et al. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat. 2008;29:74-82.
20. Bottillo I, Ahlquist T, Brekke H, et al. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. J Pathol. 2009;217:693-701.
21. Won HH, Scott SN, Brannon AR, et al. Detecting somatic genetic alterations in tumor specimens by exon capture and massively parallel sequencing. J Vis Exp. 2013;80:e50710.
22. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760.
23. De Pristo MA, Banks E, Poplin R, et al. A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet. 2011;43:491-498.
24. Cibulskis K, Lawrence MS, Carter SL, et al. Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples. Nat Biotechnol. 2013;31:213-219.
25. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29:308-311.
26. Genomes Project C, Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012;491:56-65.
27. Robinson JT, Thorvaldsdottir H, Winckler W, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29:24-26.
28. Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the c Bio Portal. Sci Signal. 2013;6:p11.
29. Hodis E, Watson IR, Kryukov GV, et al. A landscape of driver mutations in melanoma. Cell. 2012;150:251-263.
30. Krauthammer M, Kong Y, Ha BH, et al. Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet. 2012;44:1006-1014.
31. Yap YS, McPherson JR, Ong CK, et al. The NF1 gene revisited - from bench to bedside. Oncotarget. 2014;5:5873-5892.
32. Jaimes N, Chen L, Dusza SW, et al. Clinical and dermoscopic characteristics of desmoplastic melanomas. JAMA Dermatol. 2013;149:413-421.
33. Xu GF, O'Connell P, Viskochil D, et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell. 1990;62:599-608.
34. Andersen LB, Fountain JW, Gutmann DH, et al. Mutations in the neurofibromatosis 1 gene in sporadic malignant melanoma cell lines. Nat Genet. 1993;3:118-121.
35. Johnson MR, Look AT, De Clue JE, et al. Inactivation of the NF1 gene in human melanoma and neuroblastoma cell lines without impaired regulation of GTP Ras. Proc Natl Acad Sci USA. 1993;90:5539-5543.
36. Maertens O, Johnson B, Hollstein P, et al. Elucidating distinct roles for NF1 in melanomagenesis. Cancer Discov. 2013;3:338-349.
37. Nissan MH, Pratilas CA, Jones AM, et al. Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence. Cancer Res. 2014;74:2340-2350.
38. Reuss DE, Habel A, Hagenlocher C, et al. Neurofibromin specific antibody differentiates malignant peripheral nerve sheath tumors (MPNST) from other spindle cell neoplasms. Acta Neuropathol. 2014;127:565-572.
39. Berger MF, Hodis E, Heffernan TP, et al. Melanoma genome sequencing reveals frequent PREX2 mutations. Nature. 2012;485: 502-506.