Neuroendocrine tumors
2023-05-09 Yin (Rex) Hung, MD Affiliation1.Massachusetts General Hospital and Harvard Medical School, Boston
Classification
Definition
Primary neuroendocrine neoplasms of the lung include typical carcinoid (low grade), atypical carcinoid (intermediate grade), and neuroendocrine carcinomas (high grade) that comprise large cell neuroendocrine carcinoma and small cell carcinoma.
| Neuroendocrine tumors | Genetic marker(s) |
|---|---|
| Carcinoid tumor | Recurrent mutations in MEN1 and chromatin remodeling proteins such as ARID1A, KMT2A, KMT2C, and others in some cases.1-7 The MEN1 mutations are typically somatic and rarely germline in the context of Multiple Endocrine Neoplasia type 1 (MEN1) syndrome.1 Unncommon novel gene fusions have been detected in rare cases.8 |
| Typical carcinoid tumor | See above-carcinoid tumor. Of note, currently, there are no specific genetic mutations that reliably distinguish between typical carcinoid tumor and atypical carcinoid tumor. |
| Atypical carcinoid tumor | See above-carcinoid tumor. Of note, currently, there are no specific genetic mutations that reliably distinguish between typical carcinoid tumor and atypical carcinoid tumor. |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 9361035 | 1997 | Identification of MEN1 gene mutations in sporadic carcinoid tumors of the lung. | Debelenko LV et al |
| 2 | 21763262 | 2011 | Deletions of 11q22.3-q25 are associated with atypical lung carcinoids and poor clinical outcome. | Swarts DR et al |
| 3 | 24276465 | 2014 | MEN1 gene mutation and reduced expression are associated with poor prognosis in pulmonary carcinoids. | Swarts DR et al |
| 4 | 24670920 | 2014 | Frequent mutations in chromatin-remodelling genes in pulmonary carcinoids. | Fernandez-Cuesta L et al |
| 5 | 27873319 | 2017 | Lung neuroendocrine tumours: deep sequencing of the four World Health Organization histotypes reveals chromatin-remodelling genes as major players and a prognostic role for TERT, RB1, MEN1 and KMT2D. | Simbolo M et al |
| 6 | 30923345 | 2019 | Stage IV lung carcinoids: spectrum and evolution of proliferation rate, focusing on variants with elevated proliferation indices. | Rekhtman N et al |
| 7 | 31300474 | 2019 | Integrative Genomic Characterization Identifies Molecular Subtypes of Lung Carcinoids. | Laddha SV et al |
| 8 | 32417679 | 2020 | Whole-exome and RNA sequencing of pulmonary carcinoid reveals chromosomal rearrangements associated with recurrence. | Miyanaga A et al |
Citation
Yin (Rex) Hung, MD
Neuroendocrine tumors
Atlas Genet Cytogenet Oncol Haematol. 2023-05-09
Online version: http://atlasgeneticsoncology.org/solid-tumor/209132/neuroendocrine-tumors
