Генетический анализ синдрома Бирта-Хогга-Дюба и характеристика предрасположенности к раку почки
Синдром Бирта-Хогга-Дуба (SqrRoot) (Авторское право): характеристика гена заболевания FLCN и предрасположенности к раку почки, кожной фиброфолликуломе и легочным кистам
This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer. BHD is a rare inherited condition characterized by papules, or bumps-benign tumors involving hair follicles-on the head and neck. People with BHD are at increased risk of developing kidney cancer. Scientists have identified the chromosome (strand of genetic material in the cell nucleus) that contains the BHD gene and the region of the gene on the chromosome. This study will try to learn more about:
- The characteristics and type of kidney tumors associated with BHD
- The risk of kidney cancer in people with BHD
- Whether more than one gene causes BHD
- The genetic mutations (changes) responsible for BHD
Individuals with known or suspected Birt Hogg-Dube syndrome, and their family members, may be eligible for this study. Candidates will be screened with a family history and review of medical records, including pathology reports for tumors, and films of computed tomography (CT) and magnetic resonance imaging (MRI) scans.
Participants may undergo various tests and procedures, including the following:
- Physical examination
- Review of personal and family history with a cancer doctor, cancer nurses, kidney surgeon, and genetic counselor
- Chest and other x-rays
- Ultrasound (imaging study using sound waves)
- MRI (imaging study using radiowaves and a magnetic field)
- CT scans of the chest and abdomen (imaging studies using radiation)
- Blood tests for blood chemistries and genetic testing
- Skin evaluation, including a skin biopsy (surgical removal of a small skin tissue sample for microscopic evaluation)
- Cheek swab or mouthwash to collect cells for genetic analysis
- Lung function studies
- Medical photography of skin lesions
These tests will be done on an outpatient basis in either one day or over 3 to 4 days. When the studies are complete, participants will receive counseling about the findings and recommendations. Individuals with kidney lesions may be asked to return periodically, such as every 3 to 36 months, based on their individual condition, to document the rate of progression of the lesions.
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Обзор исследования
Статус
Подробное описание
Background:
- Birt-Hogg-Dube (BHD) is a rare, autosomal dominantly inherited disorder which confers susceptibility to develop multifocal, bilateral renal cancer, spontaneous pneumothorax and fibrofolliculomas.
- BHD is caused by mutations in the FLCN gene located on Chromosome17p11.2
- Defining the genetic and biochemical pathways leading to renal tumorigenesis in BHD may lead to the development of new molecularly targeted drugs.
Objectives:
- To define the types and characteristics (including patterns of growth) of renal cancer associated with BHD
- To determine the risk of renal cancer, lung cysts and fibrofolliculomas in individuals with BHD
- To define the natural history of BHD related renal tumors
- To determine if other genes contribute to BHD
- Identify genotype/phenotype correlations
Eligibility:
-Individuals that meet one or more of the following criteria:
--Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:
- Individuals with histologically confirmed fibrofolliculomas
- Individuals with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer
- Individuals with a known germline FLCN mutation
or
--Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma
or
--Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD
Design:
- These rare families will be recruited to genetically confirm diagnosis, determine size and location of renal tumors, size at presentation, growth rate and metastatic potential of renal tumors.
- Genetic testing will be offered to gain appreciation of the effect of mutations the BHD gene and to assess the relative activity of various germline and somatic mutations.
- We will determine if there is a relationship between mutation and disease manifestations and phenotype.
Тип исследования
Регистрация (Оцененный)
Контакты и местонахождение
Контакты исследования
- Имя: Deborah A Nielsen, R.N.
- Номер телефона: (240) 760-6247
- Электронная почта: deborah.nielsen@nih.gov
Учебное резервное копирование контактов
- Имя: W. Marston Linehan, M.D.
- Номер телефона: (240) 858-3700
- Электронная почта: linehanm@mail.nih.gov
Места учебы
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Maryland
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Bethesda, Maryland, Соединенные Штаты, 20892
- Рекрутинг
- National Institutes of Health Clinical Center
-
Контакт:
- For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
- Номер телефона: TTY dial 711 800-411-1222
- Электронная почта: ccopr@nih.gov
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-
Критерии участия
Критерии приемлемости
Возраст, подходящий для обучения
Принимает здоровых добровольцев
Полы, имеющие право на обучение
Метод выборки
Исследуемая популяция
Individuals with histologically confirmed fibrofolliculomas, individuals with clinical evidence of multiple skin papules consistent with fibrofolliculomas, and/or a family history of spontaneous pneumothorax or kidney cancer, a biological relative of an individual with a confirmed diagnosis of BHD. Individuals with a known germline FLCN mutation
Описание
- INCLUSION CRITERIA:
Individuals that meet one or more of the following criteria:
-Suspected or known to have phenotype or genotype suggestive of Birt-Hogg-Dube (BHD), such as:
--Individuals with at least one histologically confirmed fibrofolliculomas;
or
--Individuals with clinical evidence of multiple skin papules (without fibrofolliculoma biopsy confirmation) and a personal or family history of spontaneous pneumothorax/or kidney cancer;
or
--Individuals with spontaneous pneumothorax and skin papules or kidney cancer and a positive family history of spontaneous pneumothorax, skin papules or kidney cancer;
or
--Individuals with a known germline FLCN gene mutation
OR
-Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, hybrid oncocytic neoplasm or oncocytoma.
OR
-
Are a relative (related by blood) of an individual with a confirmed or suspected diagnosis of BHD.
-Participants must be >= 2 years of age.
-
For children less than 18 years of age, parental permission or legal guardian consent will be obtained.
EXCLUSION CRITERIA:
None.
Учебный план
Как устроено исследование?
Детали дизайна
- Наблюдательные модели: COHORT
- Временные перспективы: PROSPECTIVE
Когорты и вмешательства
Группа / когорта |
|---|
|
Family Members
A relative of an individual with a confirmed or suspected diagnosis of BHD (related by blood) |
|
Individuals
Individuals with phenotype or genotype suggestive of Birt Hogg Dub(SqrRoot)(Copyright) and/or Renal tumor histology consistent with BHD |
|
Non-Biologic Family Members
Spouses enrolled primarily for linkage analysis (Spouses have been removed from the inclusion criteria for this study. This closed cohort has been created for spouses previously enrolled on study.) |
Что измеряет исследование?
Первичные показатели результатов
Мера результата |
Мера Описание |
Временное ограничение |
|---|---|---|
|
Identify genotype / phenotype correlations.
Временное ограничение: on-going
|
Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer |
on-going
|
|
Determine risk of renal cancer, lung cysts and fibrofollicullomas in patients with BHD.
Временное ограничение: on-going
|
Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer |
on-going
|
|
Determine if other genes contribute to BHD.
Временное ограничение: on-going
|
Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer |
on-going
|
|
Define types and characteristics (including patterns of growth) of renal cancer associated with BHD.
Временное ограничение: on-going
|
Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer |
on-going
|
|
Define the natural history of BHD related renal tumors.
Временное ограничение: on-going
|
Collection of blood, saliva, tissue & urine for Identification of the Disease Gene, and Characterization of the disposition to Renal Cancer |
on-going
|
Соавторы и исследователи
Спонсор
Следователи
- Главный следователь: W. Marston Linehan, M.D., National Cancer Institute (NCI)
Публикации и полезные ссылки
Полезные ссылки
Даты записи исследования
Изучение основных дат
Начало исследования (Действительный)
Даты регистрации исследования
Первый отправленный
Впервые представлено, что соответствует критериям контроля качества
Первый опубликованный (Оцененный)
Обновления учебных записей
Последнее опубликованное обновление (Действительный)
Последнее отправленное обновление, отвечающее критериям контроля качества
Последняя проверка
Дополнительная информация
Термины, связанные с этим исследованием
Ключевые слова
Дополнительные соответствующие термины MeSH
- Урогенитальные заболевания
- Урогенитальные новообразования
- Новообразования по локализации
- Мужские мочеполовые заболевания
- Заболевания почек
- Урологические заболевания
- Женские урогенитальные заболевания
- Женские мочеполовые заболевания и осложнения беременности
- Заболевания дыхательных путей
- Урологические новообразования
- Плевральные заболевания
- Новообразования
- Новообразования почек
- Пневмоторакс
Другие идентификационные номера исследования
- 020159
- 02-C-0159
Планирование данных отдельных участников (IPD)
Планируете делиться данными об отдельных участниках (IPD)?
Описание плана IPD
All IPD recorded in the medical record will be shared with intramural investigators upon request. @@@@@@In addition, all large scale genomic sequencing data will be shared with subscribers to dbGaP.
Сроки обмена IPD
Clinical data available during the study and indefinitely.@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
Критерии совместного доступа к IPD
Clinical data will be made available via subscription to BTRIS and with the permission of the study PI.@@@@@@Genomic data are made available via dbGaP through requests to the data custodians.
Совместное использование IPD Поддерживающий тип информации
- STUDY_PROTOCOL
- САП
- МКФ
Информация о лекарствах и устройствах, исследовательские документы
Изучает лекарственный продукт, регулируемый FDA США.
Изучает продукт устройства, регулируемый Управлением по санитарному надзору за качеством пищевых продуктов и медикаментов США.
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