Michael J Bax1, Marc D Brown2, Paul G Rothberg3, Todd S Laughlin3, Glynis A Scott4. 1. Department of Dermatology, University of Rochester School of Medicine, Rochester, New York. Electronic address: Michael.Bax@RoswellPark.org. 2. Department of Dermatology, University of Rochester School of Medicine, Rochester, New York. 3. Department of Pathology, University of Rochester School of Medicine, Rochester, New York; Department of Laboratory Medicine, University of Rochester School of Medicine, Rochester, New York. 4. Department of Dermatology, University of Rochester School of Medicine, Rochester, New York; Department of Pathology, University of Rochester School of Medicine, Rochester, New York.
Abstract
BACKGROUND: Pigmented epithelioid melanocytoma (PEM) is an uncommon, recently described entity with unknown biologic behavior. There is a high rate of regional metastases, but limited evidence of distant metastases or disease-related death. OBJECTIVE: We sought to report our series of patients given a diagnosis of PEM at our institution and provide mutational analysis of genes commonly implicated in melanoma in 2 cases. METHODS: The pathology database was queried for cases of PEM diagnosed at the University of Rochester. Charts were reviewed for follow-up information. Mutational analysis of melanoma-associated genes was performed on 2 cases. RESULTS: Nine cases of PEM were retrieved in a 10-year retrospective review. Five patients underwent sentinel lymph node biopsy with 3 of 5 having a positive sentinel lymph node. All 9 patients are alive and disease-free with average follow-up of 38.75 months. Two tumors were tested for common melanoma-associated mutations, and were negative, except for a telomerase reverse transcriptase promoter deletion detected in 1 sample. The deletion has not been associated with melanoma, and therefore its biologic significance is unclear. LIMITATIONS: Small sample size, retrospective nature, and single institution experience are limitations. CONCLUSIONS: PEM appears to have an indolent behavior. However, currently the evidence is too limited to provide insight into its true biologic potential.
BACKGROUND:Pigmented epithelioid melanocytoma (PEM) is an uncommon, recently described entity with unknown biologic behavior. There is a high rate of regional metastases, but limited evidence of distant metastases or disease-related death. OBJECTIVE: We sought to report our series of patients given a diagnosis of PEM at our institution and provide mutational analysis of genes commonly implicated in melanoma in 2 cases. METHODS: The pathology database was queried for cases of PEM diagnosed at the University of Rochester. Charts were reviewed for follow-up information. Mutational analysis of melanoma-associated genes was performed on 2 cases. RESULTS: Nine cases of PEM were retrieved in a 10-year retrospective review. Five patients underwent sentinel lymph node biopsy with 3 of 5 having a positive sentinel lymph node. All 9 patients are alive and disease-free with average follow-up of 38.75 months. Two tumors were tested for common melanoma-associated mutations, and were negative, except for a telomerase reverse transcriptase promoter deletion detected in 1 sample. The deletion has not been associated with melanoma, and therefore its biologic significance is unclear. LIMITATIONS: Small sample size, retrospective nature, and single institution experience are limitations. CONCLUSIONS: PEM appears to have an indolent behavior. However, currently the evidence is too limited to provide insight into its true biologic potential.
Authors: Kim Wong; Louise van der Weyden; Courtney R Schott; Alastair Foote; Fernando Constantino-Casas; Sionagh Smith; Jane M Dobson; Elizabeth P Murchison; Hong Wu; Iwei Yeh; Douglas R Fullen; Nancy Joseph; Boris C Bastian; Rajiv M Patel; Inigo Martincorena; Carla Daniela Robles-Espinoza; Vivek Iyer; Marieke L Kuijjer; Mark J Arends; Thomas Brenn; Paul W Harms; Geoffrey A Wood; David J Adams Journal: Nat Commun Date: 2019-01-21 Impact factor: 14.919
Authors: Louise van der Weyden; Thomas Brenn; E Elizabeth Patton; Geoffrey A Wood; David J Adams Journal: J Pathol Date: 2020-07-31 Impact factor: 7.996