Cancer Family
Neuroendocrine Neoplasm
CI-CAN-00000286NENExplore in graph →
- NCIt
- C3809
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Cancer Family
CI-CAN-00000286NENExplore in graph →
Variants & evidence
65 evidence items mapped to this entity or its descendants, grouped by molecular profile, then therapy. 50 items per page.
| Therapy | Cancer | Type | Level | Direction · significance | Rating (1–5) | Status | Evidence | Source |
|---|---|---|---|---|---|---|---|---|
| RICTOR Amplification2 | ||||||||
| Vistusertib | Lung Small Cell Carcinoma | Predictive | C | Does Not Support Sensitivity Response | 3 | accepted | EID7449In a phase 2 basket trial, patients with small-cell lung carcinoma (SLC) who failed platinum-based chemotherapy and harbored RICTOR amplification were treated with mTOR 1/2 inhibitor vistusertib (AZD2… (full text at CIViC) | civic |
| MTOR Kinase Inhibitor AZD8055 + Sapanisertib + VistusertibSubstitutes | Lung Small Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID1916RICTOR amplification was observed in ca. 14% of 42 SCLC patients with panel sequencing results. 4 cell lines (2 with RICTOR CN gain, 2 without) were tested for the efficacy of mTOR pathway inhibitors.… (full text at CIViC) PMID 27863413 · Sakre et al., 2017 · Open in CIViC | civic |
| SDHA R31* (c.91C>T)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | N/A N/A | 2 | submitted | EID8589Thirty-nine cases of sporadic or familial pheo/PGL and pituitary adenomas (PA) were investigated. Known pheo/PGL genes (SDHA-D, SDHAF2, RET, VHL, TMEM127, MAX, FH) and pituitary adenoma genes (MEN1, A… (full text at CIViC) PMID 25494863 · Dénes et al., 2015 · Open in CIViC | civic |
| SDHB c.314T>A1 | ||||||||
| (predisposing) | Paraganglioma | Predisposing | C | Supports Predisposition | 2 | submitted | EID13231A germline SDHB c.314T>A variant was found in a 37 year old man with metastatic sympathetic abdominal paraganglioma. The variant was originally classified as a VUS. The loss of SDHB expression on the … (full text at CIViC) PMID 40213107 · Bernardi et al., 2025 · Open in CIViC | civic |
| SDHB p.193_196dupSTSC (c.577_588dupAGCACCAGCTGC)1 | ||||||||
| (predisposing) | Paraganglioma | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6442An in-frame duplication of 12 nucleotides resulting in the insertion of 4 amino acids within exon 6 of the SDHB gene was found in a single female case (a 13-year-old) with confirmed paraganglioma. The… (full text at CIViC) PMID 20193854 · Musil et al., 2010 · Open in CIViC | civic |
| SLFN11 EXPRESSION1 | ||||||||
| Talazoparib + TemozolomideCombination | Lung Small Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 3 | submitted | EID5883SLFN11 is a relevant predictive biomarker of sensitivity to PARP inhibitor monotherapy in SCLC as well as combinatorial therapy with TMZ. PMID 27440269 · Lok et al., 2017 · Open in CIViC | civic |
| SSTR5 Overexpression1 | ||||||||
| Pasireotide | Neuroendocrine Tumor | Predictive | B | Supports Sensitivity Response | 3 | accepted | EID10193Phase II study of pasireotide in metastatic neuroendocrine tumours enrolled 29 patients. Overall median PFS was 11 months (95% CI, 7.6–16 months). High SSTR5 expression (seen in 17/22 samples measured… (full text at CIViC) PMID 25376618 · Cives et al., 2015 · Open in CIViC | civic |
| High1 | ||||||||
| Temozolomide | Pancreatic Neuroendocrine Tumor | Predictive | B | Supports Sensitivity Response | 3 | submitted | EID13033Temozolomide (TMZ), the principal alkylating agent used in PanNET, drives acquisition of a hypermutator phenotype through direct mutagenesis. In a paired pre/post-TMZ cohort (23 patients), a hypermuta… (full text at CIViC) PMID 41244370 · Taboada et al., 2025 · Open in CIViC | civic |
| VHL G144E (c.431G>A)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6106Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 51 year-old female with unil… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC | civic |
| VHL I147T (c.440T>C)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6107Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 72 year-old female with unil… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC | civic |
| VHL L63P (c.188T>C)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6126Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This missense mutation was found in a 35 year-old male with unilat… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC | civic |
| VHL P192R (c.575C>G)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | N/A N/A | 3 | submitted | EID9343A case report of a 70Y female NF1 patient was diagnosed with an isolated pheochromocytoma, hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1… (full text at CIViC) PMID 19558618 · Gkaliagkousi et al., 2009 · Open in CIViC | civic |
| VHL Splice Region (c.463+8C>T)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | Supports Uncertain Significance | 2 | accepted | EID6108Screening of 68 patients, who had been operated on for apparently sporadic pheochromocytomas, for germline mutations in the VHL gene. This splice variant causes a premature stop codon at amino acid 66… (full text at CIViC) PMID 9663592 · van der Harst et al., 1998 · Open in CIViC | civic |
| VHL Y156C (c.467A>G)1 | ||||||||
| (predisposing) | Adrenal Gland Pheochromocytoma | Predisposing | C | Supports Uncertain Significance | 2 | submitted | EID6113Frequency of VHL, RET, SDHD, SDHC, and SDHB germline mutations in 21 patients clinically classified as having apparently sporadic pheochromocytomas or paragangliomas was assessed. Germline variations … (full text at CIViC) PMID 12807974 · Bauters et al., 2003 · Open in CIViC | civic |
| YES1 Amplification + YES1 Overexpression1 | ||||||||
| CH6953755 + DasatinibSubstitutes | Lung Small Cell Carcinoma | Predictive | D | Supports Sensitivity Response | 2 | submitted | EID12556In preclinical small cell lung carcinoma (SCLC) models with YES1 amplification or high expression, treatment with the YES1 inhibitor CH6953755 (30 mg/kg, q2d) or dasatinib (45 mg/kg daily) produced ma… (full text at CIViC) PMID 35988891 · Redin et al., 2022 · Open in CIViC | civic |
Data updated 17 hours agoSource updated unknownsource: civic (CC0)
Evidence levels, directions and ratings are those assigned by CIViC curators. "Submitted" items have not completed curation review. This is not treatment guidance.