Clinical trial NCT01773655: Clinical and Histopathologic Characteristics of BAP1 Mutations
Official title: Clinical and Histopathologic Characteristics of BAP1 Mutations
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Malignant Pleural Mesothelioma (MPM)
Choroidal Nevus
Primary Uveal Melanoma (UM)
Metastatic Uveal Melanoma (UM)
Renal Cell Carcinoma
Cholangiocarcinoma
Keywords: somatic
germline
mutations
BAP1 (BRCA associated protein-1)
12-235
Lead sponsor: Memorial Sloan Kettering Cancer Center
Sponsor class: OTHER
Collaborators: name: United States Department of Defense
First posted: 2013-01-23
Enrollment: 196
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: MSKCC's clinics

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.


Eligibility criteria: 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

Primary outcomes:
measure: determine the prevalence of germline BAP1 mutations
timeFrame: 2 years
Secondary outcomes:
measure: prevalence of somatic BAP1 mutations in disease mesothelioma and metastatic uveal melanoma.
timeFrame: 2 years
Other outcomes:
Locations:
city: Harrison
country: United States
facility: Memorial Sloan Kettering Westchester
state: New York
city: New York
country: United States
facility: Memorial Sloan Kettering Cancer Center
state: New York
Study officials:
affiliation: Memorial Sloan Kettering Cancer Center
name: Marjorie Zauderer, MD
role: PRINCIPAL_INVESTIGATOR
References: