The clinicopathologic spectrum and genomic landscape of de-/trans-differentiated melanoma
| Autor: | Mark J. Arends, Joseph Houghton, David J. Adams, Olivia Edwards, Kathleen Mulholland, Steven D. Billings, Nicolas De Saint Aubain, Thomas Mentzel, Jennifer S. Ko, Laura Riva, Ingrid Ferreira, László Füzesi, Deepa Gharpuray-Pandit, Thomas Brenn, Victoria Harle, Ivana Kuzmic Prusac, Louise van der Weyden, Alastair Droop, Omar Habeeb, Kim Wong, Bernadette Liegl-Atzwanger, Helen Caldwell, Katharina Wiedemeyer |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
0301 basic medicine Pathology Skin Neoplasms Somatic cell transdifferentiation Disease 0302 clinical medicine Medicine Melanoma Adult Aged Aged 80 and over Biomarkers Tumor Cell Differentiation Diagnosis Differential DNA Neoplasm Female Genomics High-Throughput Nucleotide Sequencing Humans Middle Aged Neoplasm Proteins Neurofibromin 1 transdifferentiated melanoma Transdifferentiation matplastic melanoma 030220 oncology & carcinogenesis rhabdomyosarcomatous Immunohistochemistry medicine.medical_specialty SOX10 dedifferentiated melanoma Lentigo maligna Pathology and Forensic Medicine 03 medical and health sciences melanoma melanoma with heterologous transdifferentiation CASZ1 business.industry dedifferentiation epthelial Biologie moléculaire melanoma with divergent transdifferentiation medicine.disease 030104 developmental biology Anatomopathologie NF1 Cutaneous melanoma business |
| Zdroj: | Ferreira, I, Droop, A, Edwards, O, Wong, K, Harle, V, Habib, O, Gharpuray-Pandit, D, Houghton, J, Wiedemeyer, K, Mentzel, T, Billings, S D, Ko, J S, Fuzesi, L, Mulholland, K, Prusac, I K, Liegl-Atzwanger, B, Aubain, N D S, Caldwell, H, Riva, L, van der Weyden, L, Arends, M J, Brenn, T & Adams, D J 2021, ' The clinicopathologic spectrum and genomic landscape of de-/trans-differentiated melanoma ', Modern Pathology . https://doi.org/10.1038/s41379-021-00857-z Modern pathology |
| DOI: | 10.1038/s41379-021-00857-z |
| Popis: | Dedifferentiation and transdifferentiation are rare and only poorly understood phenomena in cutaneous melanoma. To study this disease more comprehensively we have retrieved 11 primary cutaneous melanomas from our pathology archives showing biphasic features characterized by a conventional melanoma and additional areas of de-/trans-differentiation as defined by a lack of immunohistochemical expression of all conventional melanocytic markers (S-100 protein, SOX10, Melan- A, and HMB-45). The clinical, histologic, and immunohistochemical findings were recorded and follow-up was obtained. The patients were mostly elderly (median: 81 years ; range: 42–86 years) without significant gender predilection, and the sun-exposed skin of the head and neck area was most commonly affected. The tumors were deeply invasive with a mean depth of 7 mm (range: 4–80 mm). The dedifferentiated component showed atypical fibroxanthoma-like features in the majority of cases (7), while additional rhabdomyosarcomatous and epithelial transdifferentiation was noted histologically and/or immunohistochemically in two tumors each. The background conventional melanoma component was of desmoplastic (4), superficial spreading (3), nodular (2), lentigo maligna (1), or spindle cell (1) types. For the seven patients with available follow-up data (median follow-up period of 25 months ; range: 8–36 months), two died from their disease, and three developed metastases. Next- generation sequencing of the cohort revealed somatic mutations of established melanoma drivers including mainly NF1 mutations (5) in the conventional component, which was also detected in the corresponding de-/trans-differentiated component. In summary, the diagnosis of primary cutaneous de-/trans-differentiated melanoma is challenging and depends on the morphologic identification of conventional melanoma. Molecular analysis is diagnostically helpful as the mutated gene profile is shared between the conventional and de-/trans-differentiated components. Importantly, de-/trans-differentiation does not appear to confer a more aggressive behavior. |
| Databáze: | OpenAIRE |
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