Clinical and Histopathologic Characteristics of BAP1 Mutations

Clinical and Histopathologic Characteristics of BAP1 Mutations

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.

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