Neoplasm

Screening 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

Genotype-phenotype correlations of 573 VHL patients from 200 kindreds were analyzed. This mutation was found in a VHL type 2 patient with retinal angiomas, hemangioblastomas of the central nervous sys… (full text at CIViC)

PMID 17024664 · Ong et al., 2007 · Open in CIViC

A previous study of 26 Japanese, VHL families was extended to 41 additional families. Germline mutations were detected in 55 of 77 Japanese families. Renal cell carcinoma occurred predominantly in non… (full text at CIViC)

PMID 10761708 · Yoshida et al., 2000 · Open in CIViC

Of 65 VHL families from central Europe, 53 were identified with germline mutations. This splice mutation was found in a German, VHL type 1 patient with retinal angiomas, hemangioblastomas of the centr… (full text at CIViC)

PMID 8707293 · Glavac et al., 1996 · Open in CIViC

In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC)

PMID 7591282 · Bailly et al., 1995 · Open in CIViC

This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC)

PMID 11505222 · Gallou et al., 2001 · Open in CIViC

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC)

PMID 7591282 · Bailly et al., 1995 · Open in CIViC

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC)

PMID 11505222 · Gallou et al., 2001 · Open in CIViC

Chromosomal rearrangements in germline t(3;12)(q13.13;q24.23) associated with the development of one conventional renal cell carcinomas (RCC) in a 50Y old patient. Other phenotypic and demographic dat… (full text at CIViC)

PMID 20633763 · Yusenko et al., 2010 · Open in CIViC

Renal cell carcinoma was found in three adults from two consecutive generations of a Spanish family: The proband (III:1), the mother (II-2) and the aunt (II:3). The proband was found at 44Y with RCC a… (full text at CIViC)

PMID 12522559 · Meléndez et al., 2003 · Open in CIViC

Molecular analysis of VHL gene in 146 probands, 103 with and 43 without a positive family history, resulted in the detection of 43 germline VHL mutations. Majority of mutations were found in patients … (full text at CIViC)

PMID 17661816 · Hes et al., 2007 · Open in CIViC

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC)

PMID 11505222 · Gallou et al., 2001 · Open in CIViC

This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC)

PMID 11505222 · Gallou et al., 2001 · Open in CIViC

Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC)

PMID 7977367 · Whaley et al., 1994 · Open in CIViC

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

In a study of 31 kidney tumor from France, 14 somatic VHL mutations were found. Most tumors were found to have heterozygous pattern of mutation likely due to contamination of renal cancer tissues with… (full text at CIViC)

PMID 7591282 · Bailly et al., 1995 · Open in CIViC

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC)

PMID 11505222 · Gallou et al., 2001 · Open in CIViC

Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC)

PMID 7977367 · Whaley et al., 1994 · Open in CIViC

A single case (70 year-old named "3GT" in this study) with sporadic grade 3 renal cell carcinoma was observed with both W8* and G44D somatic variants.

PMID 11536052 · Ma et al., 2001 · Open in CIViC

Frequency 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

This study analyzed tumor and non-tumor kidney tissue from 195 unrelated patients with sporadic clear cell renal cell carcinoma (CCRCC) for a relationship between VHL variants in sporadic CCRCC and 'g… (full text at CIViC)

PMID 11505222 · Gallou et al., 2001 · Open in CIViC

Tissue analysis from 61 VHL patients, 30 sporadic renal cell carcinoma (RCC) tumor samples, and 6 sporadic RCC cell lines revealed 22 variants within VHL patients, 10 variants in tumor samples and var… (full text at CIViC)

PMID 7977367 · Whaley et al., 1994 · Open in CIViC

This variant was detected in a single case with clear-cell renal cell carcinoma. The tumor had two somatic variants (c.1-1_20del21 and c.291_310del20). Either of these variants is predicted to be quit… (full text at CIViC)

PMID 15932632 · van Houwelingen et al., 2005 · Open in CIViC

Tumors from 110 patients with sporadic renal carcinoma were analyzed for VHL mutations and loss of heterozygosity. 56 of the 98 samples from sporadic, clear cell renal carcinoma patients were identifi… (full text at CIViC)

PMID 7915601 · Gnarra et al., 1994 · Open in CIViC

In this 2011 study the authors screened B-cell lymphomas for a FISH pattern indicating an IGH break but lacking known common partners. After identifying the t(6;14)(p25;q32) with long distance inverse… (full text at CIViC)

PMID 21487109 · Salaverria et al., 2011 · Open in CIViC

In this 2020 study the authors included twenty cases classified as IRF4 positive Large B-cell lymphomas (LBCL-IRF4). The patients were aged from 5 to 22 years (median of 14 years). All cases showed po… (full text at CIViC)

PMID 31738823 · Ramis-Zaldivar et al., 2020 · Open in CIViC

In this study, 264 of 1725 precursor B-lymphoblastic leukemia (B-ALL) cases were identified as BCR::ABL1 (Ph)-like based on the expression signature similar to the BCR::ABL1 positive B-ALL; of those 2… (full text at CIViC)

PMID 25207766 · Roberts et al., 2014 · Open in CIViC

In this study, the authors characterized 77 pediatric Ph-like B-ALL cases from the Dutch Childhood Oncology Group trials and German Cooperative ALL trials, and identified 5 cases with activated JAK si… (full text at CIViC)

PMID 27894077 · Boer et al., 2017 · Open in CIViC

In this 2017 study, the authors characterized 284 cases of Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) identified from a cohort of 1,389 pediatric patients with high-risk B… (full text at CIViC)

PMID 28408464 · Reshmi et al., 2017 · Open in CIViC

This retrospective Japanese multicenter study investigated kinase-activating gene fusions in pediatric B-lymphoblastic leukemia (B-ALL) lacking recurrent cytogenetic abnormalities, with the goal of de… (full text at CIViC)

PMID 27176795 · Imamura et al., 2016 · Open in CIViC

In this 2010 study, the authors included 55 salivary gland mucoepidermoid carcinomas (MEC) and a control group of 36 potential MEC mimics, including Warthin tumors, oncocytomas, squamous cell carcinom… (full text at CIViC)

PMID 20588178 · Seethala et al., 2010 · Open in CIViC

In this 2013 study, the authors investigated 95 salivary gland mucoepidermoid carcinomas (MEC) using FFPE material. RT-PCR and FISH were utilized to detect CRTC1::MAML2 and CRTC3::MAML2 fusions, as we… (full text at CIViC)

PMID 23035786 · Noda et al., 2013 · Open in CIViC

Bakouny, et al. (2022) performed a comprehensive study of the molecular and clinical features of 90 translocation renal cell carcinomas (tRCCs), defined as subtype of kidney cancer driven by MiT/TFE g… (full text at CIViC)

PMID 34986355 · Bakouny et al., 2022 · Open in CIViC

In this 2025 retrospective study, 14 spindle cell rhabdomyosarcoma (SCRMS) cases previously identified as possessing ZFP64::NCOA2 or ZFP64::NCOA3 fusions were pulled from clinical archives to assess c… (full text at CIViC)

PMID 41075874 · Dehner et al., 2025 · Open in CIViC

In this 2016 study, the authors analyzed 26 pediatric spindle and sclerosing rhabdomyosarcomas (SRMS) using FISH, targeted DNA, and whole transcriptome sequencing to define their molecular landscape. … (full text at CIViC)

PMID 26501226 · Alaggio et al., 2016 · Open in CIViC

In this 2023 study, the authors evaluated the diagnostic utility of NR4A3 immunohistochemistry in acinic cell carcinoma (AciCC) of the salivary gland. The cohort included 128 AciCCs, comprising 85 cla… (full text at CIViC)

PMID 36469101 · Klubíčková et al., 2023 · Open in CIViC

In this 2019 study, the authors aimed to evaluate the usefulness of NR4A3 immunostaining and compare it with NR4A3 Fluorescence in situ hybridization (FISH) for the differential diagnosis of acinic ce… (full text at CIViC)

PMID 31094928 · Haller et al., 2019 · Open in CIViC