Cancer Family
Retroperitoneal Neoplasm
CI-CAN-00000341Explore in graph →
Loading cancer entity…
Cancer Family
CI-CAN-00000341Explore in graph →
Variants & evidence
9 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 |
|---|---|---|---|---|---|---|---|---|
| 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 |
| High1 | ||||||||
| Ipilimumab + Lenvatinib + PembrolizumabCombination | Adrenal Cortical CarcinomaALIAS | Predictive | C | Supports Sensitivity Response | 2 | accepted | EID13303A 54-year-old female with recurrent stage IV ACC that progressed after adrenalectomy, radiation, and mitotane had a TMB-high (11.6 mutations/Mb), MSS, PD-L1-negative tumor with a markedly clonal molec… (full text at CIViC) PMID 42158873 · Nakhleh et al., 2026 · Open in CIViC | civic |
| TP53 Mutation1 | ||||||||
| (prognostic) | Adrenal Cortical CarcinomaALIAS | Prognostic | B | Supports Poor Outcome | 2 | accepted | EID1028TP53 mutation was shown to be associated with shorter overall survival in patients with adrenocortical tumors (log-rank test; P=0.098). Of 20 patients studied, 5 had coding mutation in TP53. Four of t… (full text at CIViC) PMID 15922892 · Sidhu et al., 2005 · 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 |
Data updated 9 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.