Clinical and Histopathologic Characteristics of BAP1 Mutations

Memorial Sloan Kettering Cancer Center (MSK)

Status: Completed

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

Treatments: Other: tumor specimens

Study type: Observational

Funder types: Other; Other U.S. Federal agency

Identifiers

NCT01773655

12-235

Details and patient eligibility

About

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.

Enrollment: 196 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Exclusion criteria

• none

Trial design

196 participants in 1 patient group

tissue

Description:

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

Treatment:

Other: tumor specimens