Elucidating the Genetic Basis of the Pleuropulmonary Blastoma (PPB) Familial Cancer Syndrome

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.

Completed

Looking for future studies?

Notify Me

Key information

Conditions

Pleuropulmonary Blastoma Adnexal Diseases Brain Diseases Brain Neoplasms Central Nervous System Diseases Central Nervous System Neoplasms Congenital, Hereditary, and Neonatal Diseases and Abnormalities Cystic Nephroma Embryonal Rhabdomyosarcoma of Cervix Endocrine Gland Neoplasms Endocrine System Diseases Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genital Diseases Genital Diseases, Female Genital Diseases, Male Genital Neoplasms, Female Genital Neoplasms, Male Goiter Gonadal Disorders Hypothalamic Diseases Hypothalamic Neoplasms Kidney Diseases Kidney Neoplasms Male Urogenital Diseases Medulloepithelioma Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Complex and Mixed Neoplasms, Connective and Soft Tissue Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Gonadal Tissue Neoplasms, Nerve Tissue Neoplasms, Neuroepithelial Neoplastic Syndromes, Hereditary Nervous System Diseases Nervous System Neoplasms Neuroectodermal Tumors Neuroectodermal Tumors, Primitive Ovarian Diseases Ovarian Neoplasms Pinealoma Pineoblastoma Pituitary Diseases Pituitary Neoplasms Pituitary Tumors Sarcoma Sertoli-Leydig Cell Tumor Sertoli-Leydig Cell Tumor of Ovary Sex Cord-Gonadal Stromal Tumors Supratentorial Neoplasms Testicular Diseases Testicular Neoplasms Thyroid Diseases Urogenital Diseases Urogenital Neoplasms Urologic Diseases Urologic Neoplasms Wilms Tumor

Age range

1 day–95 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Identify the genetic factors which contribute to the development or progression of pleuropulmonary blastoma

Time frame: 10 years

Secondary outcomes

Define the clinical features of the pleuropulmonary blastoma (PPB) familial cancer syndrome.

Time frame: 10 years

Sponsors and collaborators

Lead sponsor

Ashley Hill

Other

Registry information

Acronym: PPB

Important dates

Study start: 2005
Primary completion: 2018
Study completion: 2022
First posted: Nov 30, 2007
Registry last updated: Mar 1, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed