Clinical and Histopathologic Characteristics of BAP1 Mutations

Completed

• Conditions: Primary Uveal Melanoma (UM); Choroidal Nevus; Metastatic Uveal Melanoma (UM); Renal Cell Carcinoma; Malignant Pleural Mesothelioma (MPM); Cholangiocarcinoma
• Interventions: Other: tumor specimens

• Registration Number: NCT01773655
• Lead Sponsor: Memorial Sloan Kettering Cancer Center

Brief Summary

The goal of this protocol is to determine the prevalence of somatic and germline mutations in BAP1 (BRCA associated protein-1) among patients with mesothelioma , choroidal nevus, primary uveal melanoma (UM), or metastatic UM seen at our institution.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-01
• Study First Submitted: 2013-01-18
• Study First Submitted QC: 2013-01-18
• Study First Posted: 2013-01-23
• Status Verified: 2020-06
• Primary Completion: 2020-06-30
• Study Completion: 2020-06-30
• Last Update Submitted: 2020-06-30
• Last Update Posted: 2020-07-01

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 196

Inclusion Criteria

All consents:

• > or = to 18 years of age
• Ability to provide informed consent

Consent 1:

Mesothelioma

• Histologically proven diagnosis of Mesothelioma OR Choroidal nevus
• Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography OR Primary uveal melanoma
• Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography

Consent 2:

Mesothelioma

• Histologically proven diagnosis of Mesothelioma AND
• BAP1 mutation or loss of expression identified in tumor sample

OR one of the following:

• Age<50 at diagnosis
• No history of asbestos exposure
• Personal history of choroidal nevus, uveal melanoma, melanoma, renal cell carcinoma, or cholangiocarcinoma
• Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
• History of malignancy in more than two first-degree relatives OR Choroidal nevus
• Diagnosis of choroidal nevus by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography AND one of the following:
• More than one clinical risk factor, which may include: orange pigment, thickness > 1 < 2.5mm
• Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
• Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma OR Primary uveal melanoma
• Diagnosis of uveal melanoma by direct examination and/or ultrasound/optical coherence tomography and possibly fluorescein angiography

AND one of the following:

• Personal history of uveal melanoma, skin melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
• Family history of choroidal nevus, uveal melanoma, mesothelioma, renal cell carcinoma, or cholangiocarcinoma
• History of malignancy in more than two first-degree relatives OR Metastatic uveal melanoma
• Histologically proven diagnosis of metastatic uveal melanoma AND
• BAP1 mutation or loss of expression identified in tumor sample

OR one of the following:

• Personal history of uveal melanoma, skin melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
• Family history of choroidal nevus, uveal melanoma, mesothelioma renal cell carcinoma, or cholangiocarcinoma
• History of malignancy in more than two first-degree relatives

Consent 3:

• Relative of patient with germline BAP1 mutation identified through identified testing

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Exclusion Criteria

• none

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
tissue	tumor specimens	This is a protocol to obtain and/or analyze tumor and germline DNA specimens of patients with MPM, choroidal nevus, and UM.

Primary Outcome Measures

Name	Time	Method
determine the prevalence of germline BAP1 mutations	2 years	Prevalence will be estimated as the proportion of all specimens who tested positive for mutation, and reported along with the corresponding exact 95% confidence intervals.

Secondary Outcome Measures

Name	Time	Method
prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.	2 years	The frequency of somatic mutations will be tabulated by factors of interest such as: * personal and familial risk factors: age, smoking, and asbestos mesothelioma, personal and family history of cancer or of related diseases (mesothelioma and metastatic uveal melanoma); * disease characteristics: histology, stage, location, site of metastasis (if present) (for mesothelioma and metastatic uveal melanoma); COMS criteria, GEP class, number of clinical risk factors (for metastatic uveal melanoma)

Trial Locations

Locations (2)

Memorial Sloan Kettering Cancer Center; 🇺🇸 New York, New York, United States

Memorial Sloan Kettering Westchester; 🇺🇸 Harrison, New York, United States