Neuroendocrine neoplasms
2026-08-20 Stefano Sioletic, MD , Paola Dal Cin, PhD Affiliation1.San Camillo-Forlanin Hospital Rome (Italy)
2.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
non-cutaneous neuroendocrine neoplasms ,Merkel cell carcinoma, cutaneous neuroendocrine neoplasmsClassification
Definition
Neuroendocrine neoplasms are a relatively rare and heterogeneous tutor types, Cutaneous metastases from non-cutaneous neuroendocrine neoplasms are rare, but a distinction from primary neuroendocrine carcinoma of the skin, such as Merkel cell carcinoma (MCC), is critical to guide clinical management.1 In such cases, the most discriminant markers for a diagnosis of MCC are SATB2 NF expression, and Merkel cell polyomavirus DNA detection. 2
| Neuroendocine neoplasms | |
|---|---|
| Merkel cell carcinoma | Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine skin cancer occurring predominantly in elderly, fair-skinned individuals with chronically sun-damaged skin, most often involving the head and neck, extremities, and trunk. 3 It is classified based on a characteristic neuroendocrine phenotype despite marked molecular heterogeneity between two largely mutually exclusive pathogenetic subtypes, driven by integrated Merkel cell polyomavirus (MCPyV) and expression of viral T antigens or UV signature mutations. MCPyV-positive disease accounts for approximately 80% of cases in Western populations and MCPyV-negative disease for the remainder. Both share overlapping morphology, immunophenotype, and aggressive behaviour,but no statistical difference in their response to immune checkpoint inhibitor (ICI) immunotherapy. 4-7 |
| MCPyV-positive tumors posess a very low tumor mutational burden (TMB) , show clonal viral integration with a truncated large antiginen and a small T antiginen targeting tumor-suppressor proteins as Rb and tp53 . 8,9 MCPyV-negative tumors show extensive ultraviolet-induced damage reminiscent of other skin cancers, with a high TMB , COSMIC UV signatures and frequent TP53, RB1, NOTCH1 , KMTD2, KMT2C, and PIK3CA alterations . 7,10 |
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Citation
Stefano Sioletic, MD ; Paola Dal Cin, PhD
Neuroendocrine neoplasms
Atlas Genet Cytogenet Oncol Haematol. 2026-08-20
Online version: http://atlasgeneticsoncology.org/solid-tumor/209384
