Orbital meningeal melanocytoma: Histological, immunohistochemical and molecular characterization of a case and review of the literature

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• 作者：Andrea Palicelli ; M.D.^a ; ^{andreapalicelli@hotmail.it" class="auth_mail" title="E-mail the corresponding author} ; Maria Giulia Disanto ; M.D.^a ; ^{mariagiuliadisanto@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Gabriele Panzarasa ; M.D.^b ; Claudia Veggiani ; B.Sc.^c ; Gabriella Galizia ; M.D.^d ; Stefano Dal Cin ; M.D.^d ; Elisa Gruppioni ; Ph.D.^e ; Renzo Boldorini ; M.D.^a ; ^c ; ^{renzo.boldorini@med.unipmn.it" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Orbit ; Orbital ; Melanocytoma ; PCR ; FISH
• 刊名：Pathology - Research and Practice
• 出版年：2016
• 出版时间：October 2016
• 年：2016
• 卷：212
• 期：10
• 页码：946-953
• 全文大小：8006 K

文摘

We provide morphological, immunohistochemical and molecular characterization of the 3rd “intermediate-grade” orbital meningeal melanocytoma, testing for the first time Vysis Melanoma FISH Probe Kit. We reviewed the literature in order to discuss the main differential diagnoses and to provide a better molecular description of these unusual tumors of difficult diagnosis and controversial management.

Methods

r0075">Histochemical stains (Haematoxylin and Eosin, Perls, reticulin), immunohistochemistry (HMB45, p16, Melan-A, S100, EMA, Ki67, CD68), polymerase chain reaction amplification and sequence analysis (BRAF, exon 15; NRAS exons 2 and 3; c-KIT, exons 11, 13, 17, 18; GNAQ, exons 4 and 5; GNA11, exons 4 and 5) and fluorescent in situ hybridization (RREB1, 6p25; MYB, 6q23; CCND1, 11q13; CEP 6, 6p11.1-q11.1) were performed on paraffin-embedded, formalin-fixed material.

Results

r0080">Histological diagnosis of “intermediate-grade&rdquo; melanocytoma was supported by zonal necrosis and increased Ki67-index (12%). Immunophenotype: HMB45 + (strong, >75%), Melan-A + (strong, >75%), p16 + (∼20%), S100 −/+ (<5%), EMA −/+ (<5%), CD68 − (positive histiocytes). No gene mutations nor copy-number alterations were identified. The patient was asymptomatic and disease-free 3 years after total surgical excision.

Conclusions

r0085">Adequate sampling and accurate immunohistochemical characterization are important for a correct diagnosis. Molecular analysis could provide important additional information (especially for “intermediate-grade&rdquo; tumors), but further data are needed.