A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3‐SCAPER gene fusion
dc.contributor.author | Friedman, Ben J. | |
dc.contributor.author | Hernandez, Simon | |
dc.contributor.author | Fidai, Chelsea | |
dc.contributor.author | Jiang, Angela | |
dc.contributor.author | Shwayder, Tor A. | |
dc.contributor.author | Carskadon, Shannon | |
dc.contributor.author | Andea, Aleodor A. | |
dc.contributor.author | Harms, Paul W. | |
dc.contributor.author | Chitale, Dhananjay | |
dc.contributor.author | Palanisamy, Nallasivam | |
dc.date.accessioned | 2020-01-13T15:02:27Z | |
dc.date.available | WITHHELD_13_MONTHS | |
dc.date.available | 2020-01-13T15:02:27Z | |
dc.date.issued | 2020-01 | |
dc.identifier.citation | Friedman, Ben J.; Hernandez, Simon; Fidai, Chelsea; Jiang, Angela; Shwayder, Tor A.; Carskadon, Shannon; Andea, Aleodor A.; Harms, Paul W.; Chitale, Dhananjay; Palanisamy, Nallasivam (2020). "A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3‐SCAPER gene fusion." Journal of Cutaneous Pathology 47(1): 70-75. | |
dc.identifier.issn | 0303-6987 | |
dc.identifier.issn | 1600-0560 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/152480 | |
dc.description.abstract | Pigmented epithelioid melanocytoma (PEM) represents a group of rare, heavily pigmented melanocytic tumors encompassing lesions previously designated as “animal‐type melanomas” and “epithelioid blue nevi.” Despite the association of multiple such tumors in the setting of Carney complex, most cases of PEM occur spontaneously as solitary neoplasms in otherwise healthy patients. PEM may arise in both children and adults, and has a known propensity to spread to the regional lymph nodes. Despite this latter finding, recurrence at the biopsy site or spread beyond the lymph node basin is exceptionally uncommon. Although the molecular basis for PEM continues to be characterized, findings to date suggest that this category of melanocytic neoplasia has genetic alterations distinct from those seen in common nevi, dysplastic nevi, Spitz nevi, and melanoma. Herein, we present an in‐depth clinical, histopathologic, and molecular analysis of a case of PEM occurring on the scalp of a young African American girl found to have a novel NTRK3‐SCAPER gene fusion. | |
dc.publisher | Wiley Periodicals, Inc. | |
dc.publisher | Blackwell Publishing Ltd | |
dc.subject.other | NTRK3 fusion | |
dc.subject.other | pigmented epithelioid melanocytoma | |
dc.subject.other | dermatopathology | |
dc.subject.other | melanocytic lesions | |
dc.subject.other | melanocytic neoplasms | |
dc.title | A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3‐SCAPER gene fusion | |
dc.type | Article | |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Dermatology | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/152480/1/cup13566.pdf | |
dc.description.bitstreamurl | https://deepblue.lib.umich.edu/bitstream/2027.42/152480/2/cup13566_am.pdf | |
dc.identifier.doi | 10.1111/cup.13566 | |
dc.identifier.source | Journal of Cutaneous Pathology | |
dc.identifier.citedreference | Gavriilidis P, Michalopoulou I, Chatzikakidou K, Nikolaidou A. Pigmented epithelioid melanocytoma: a new concept encompassing animal‐type melanoma and epithelioid blue nevus. BMJ Case Rep. 2013; 2013. https://casereports.bmj.com/content/2013/bcr-2013-008865.long. | |
dc.identifier.citedreference | Cohen JN, Joseph NM, North JP, Onodera C, Zembowicz A, LeBoit PE. Genomic analysis of pigmented epithelioid melanocytomas reveals recurrent alterations in PRKAR1A, and PRKCA genes. Am J Surg Pathol. 2017; 41: 1333 ‐ 1346. | |
dc.identifier.citedreference | Lim C, Murali R, McCarthy SW, Krivanek J, Scolyer RA. Pigmented epithelioid melanocytoma: a recently described melanocytic tumor of low malignant potential. Pathology. 2010; 42: 284 ‐ 286. | |
dc.identifier.citedreference | Moscarella E, Ricci R, Argenziano G, et al. Pigmented epithelioid melanocytoma: clinical, dermoscopic and histopathological features. Br J Dermatol. 2016 May; 174 ( 5 ): 1115 ‐ 1117. | |
dc.identifier.citedreference | Zembowicz A, Carney JA, Mihm MC. Pigmented epithelioid melanocytoma: a low grade melanocytic tumor with metastatic potential indistinguishable from animal‐type melanoma and epithelioid blue nevus. Am J Surg Pathol. 2004; 28: 31 ‐ 40. | |
dc.identifier.citedreference | Han B, Mehra R, Dhanasekaran SM, et al. A fluorescence in situ hybridization screen for E26 transformation‐specific aberrations: identification of DDX5‐ETV4 fusion protein in prostate cancer. Cancer Res. 2008; 68 ( 18 ): 7629 ‐ 7637. | |
dc.identifier.citedreference | Carter MD, Durham AB, Miedema JR, et al. Molecular testing of borderline cutaneous melanocytic lesions: SNP array is more sensitive and specific than FISH. Hum Pathol. 2019; 86: 115 ‐ 123. https://www.clinicalkey.com/#!/content/playContent/1‐s2.0‐S004681771830488X?returnurl=https://linkinghub.elsevier.com/retrieve/pii/S004681771830488X?showall=true&referrer=https://www.ncbi.nlm.nih.gov/ | |
dc.identifier.citedreference | Wang L, Busam KJ, Benayed R, et al. Identification of NTRK3 fusions in childhood melanocytic neoplasms. J Mol Diagn. 2017; 19 ( 3 ): 387 ‐ 396. https://doi.org/10.1016/j.jmoldx.2016.11.005. | |
dc.identifier.citedreference | Yeh I, Tee MK, Botton T, et al. NTRK3 kinase fusions in Spitz tumours. J Pathol. 2016; 240 ( 3 ): 282 ‐ 290. | |
dc.identifier.citedreference | VandenBoom T, Quan VL, Zhang B, et al. Genomic fusions in pigmented spindle cell nevus of Reed. Am J Surg Pathol. 2018; 42 ( 8 ): 1042 ‐ 1051. | |
dc.identifier.citedreference | 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 ( 10 ): 2170 ‐ 2175. | |
dc.identifier.citedreference | Bastian BC, Olshen AB, LeBoit PE, Pinkel D. Classifying melanocytic tumors based on DNA copy number changes. Am J Pathol. 2003; 163 ( 5 ): 1765 ‐ 1770. https://doi.org/10.1016/S0002-9440(10)63536-5. | |
dc.identifier.citedreference | Isales MC, Mohan LS, Quan VL, et al. Distinct genomic patterns in pigmented epithelioid melanocytoma. Am J Surg Pathol. 2019; 43 ( 4 ): 480 ‐ 488. | |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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