Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Lung Cancer, Ovarian Cancer, Cancer, Cancer, Brain Cancer, Endocrine |
| Therapuetic Areas: | Endocrinology, Oncology |
| Healthy: | No |
| Age Range: | Any - 95 |
| Updated: | 4/3/2019 |
| Start Date: | March 2005 |
| End Date: | December 31, 2020 |
Pleuropulmonary Blastoma (PPB) is a rare lung tumor which develops in childhood. The
underlying genetic factors which contribute to the development and progression of PPB are not
defined. We are working to identify the genetic factors which may contribute to the
development of this rare tumor.
underlying genetic factors which contribute to the development and progression of PPB are not
defined. We are working to identify the genetic factors which may contribute to the
development of this rare tumor.
Studies of inherited cancer syndromes have provided unique opportunities to uncover and
explain important cellular pathways with broad relevance to both sporadic cancers and human
development. This proposal studies the cancer predisposition syndrome originally described as
a familial form of pleuropulmonary blastoma (PPB). PPB is a rare, aggressive lung cancer that
affects young children. Children with PPB and/or their family members are at increased risk
for a number of rare conditions, including Wilms tumor, rhabdomyosarcoma, brain tumors,
ovarian tumors and nodular hyperplasia of the thyroid gland. In 2009, we mapped a PPB locus
and identified germline, loss of function mutations in one copy of DICER1 as the genetic
basis of this syndrome. DICER1 encodes a protein that performs the final critical step in
maturation of microRNAs (miRNAs). miRNAs are an important form of gene regulation. The
syndrome's varied nature is likely attributable to the various roles of miRNAs during
different developmental and/or functional circumstances. This study focuses on defining the
full phenotype of this cancer predisposition syndrome including penetrance, expressivity in
children and adults, pathologic classification of disease and spectrum of predisposing DICER1
mutations. Improved understanding of the clinical and genetic features of this cancer
predisposition syndrome is essential to facilitate early diagnosis when the diseases are most
curable, and to create genetic counseling and educational materials to guide medical care.
explain important cellular pathways with broad relevance to both sporadic cancers and human
development. This proposal studies the cancer predisposition syndrome originally described as
a familial form of pleuropulmonary blastoma (PPB). PPB is a rare, aggressive lung cancer that
affects young children. Children with PPB and/or their family members are at increased risk
for a number of rare conditions, including Wilms tumor, rhabdomyosarcoma, brain tumors,
ovarian tumors and nodular hyperplasia of the thyroid gland. In 2009, we mapped a PPB locus
and identified germline, loss of function mutations in one copy of DICER1 as the genetic
basis of this syndrome. DICER1 encodes a protein that performs the final critical step in
maturation of microRNAs (miRNAs). miRNAs are an important form of gene regulation. The
syndrome's varied nature is likely attributable to the various roles of miRNAs during
different developmental and/or functional circumstances. This study focuses on defining the
full phenotype of this cancer predisposition syndrome including penetrance, expressivity in
children and adults, pathologic classification of disease and spectrum of predisposing DICER1
mutations. Improved understanding of the clinical and genetic features of this cancer
predisposition syndrome is essential to facilitate early diagnosis when the diseases are most
curable, and to create genetic counseling and educational materials to guide medical care.
Inclusion Criteria:
- Child or adult diagnosed with pleuropulmonary blastoma, cystic nephroma, embryonal
rhabdomyosarcoma of uterine cervix, ovarian Sertoli-Leydig tumor or gynandroblastoma,
pineoblastoma, pituitary blastoma, nasal chondromesenchymal hamartoma,
medulloepithelioma, Wilms tumor, germline or mosaic DICER1 mutation
Exclusion Criteria:
- child or adult who does not fit inclusion criteria as listed above
We found this trial at
1
site
111 Michigan Ave NW
Washington, District of Columbia
Washington, District of Columbia
(202) 476-5000
Principal Investigator: Ashley Hill, MD
Phone: 202-476-2051
Childrens National Medical Center As the nation’s children’s hospital, the mission of Children’s National Medical...
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