Clinical and Histopathologic Characteristics of BAP1 Muta... | NCT01773655

NCT01773655

Protocol Section

Identification Module

Results Section

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No data is available for this block.

Annotation Section

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No data is available for this block.

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module

Status Module

Name	Class
United States Department of Defense	FED

Arms/Interventions Module

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

Interventions

Name	Type	Description	Arm Group Labels	Other Names
tumor specimens	Other	All consenting patients (Consent 1) will participate in an anonymized assessment of the prevalence of germline BAP1 mutations. Available tumor specimens from patients with MPM and metastatic uveal melanoma will be tested for BAP1 mutation. Patients whose tumors harbor BAP1 mutations and/or meet the criteria for germline mutation specified in 2.2.2 will be approached for identified germline BAP1 testing after appropriate pre-test counseling (Consent 2). Patients who, through identified testing, are found to have germline BAP1 mutations will be asked to invite their relatives to participate in germline testing (Consent 3). First-degree relatives and any relatives with a malignancy will be prioritized. Expanding testing to family members of patients with BAP1 germline mutations is essential to delineate the penetrance and describe the various manifestations of this new cancer predisposition syndrome.

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
determine the prevalence of germline BAP1 mutations	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.	2 years

Secondary Outcomes

Measure	Description	Time Frame
prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.	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)

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

All consents:

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

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:

Facility	Status	City	State	ZIP	Country	Contacts
Memorial Sloan Kettering Westchester		Harrison	New York	10604	United States
Memorial Sloan Kettering Cancer Center

ID	Term
D008654	Mesothelioma
D000236	Adenoma
D009375	Neoplasms, Glandular and Epithelial
D009370	Neoplasms by Histologic Type