Brief Title
International Pediatric Adrenocortical Tumor Registry
Official Title
International Pediatric Adrenocortical Tumor Registry
Brief Summary
This study aims to collect demographic and medical information including detailed family history of cancer of children and adolescents with adrenocortical tumors in order to learn more about the clinical and epidemiological aspects, treatment modalities, and outcome of patients with this rare disease, worldwide. In addition, investigators at St. Jude Children's Research Hospital (SJCRH) plan to perform molecular studies of tumor cells aimed to clarify the role of the TP53 gene and other genetic pathways in these tumors. They aim to obtain relevant biological material from participants with adrenocortical tumor (ACT), their biological parents, and relatives for determination of the TP53 germline status, molecular studies of the TP53 gene, and other molecular pathways.
Detailed Description
Adrenocortical tumors (ACT) are rare cancer types that form in the outer layer of the adrenal gland and are very uncommon in children and teenagers. There is variation in pediatric ACT incidence worldwide. In the United States, only about 25 new cases of ACT per million per year, making this a very rare tumor. However, in southern Brazil, the annual incidence of ACT is 15 times that seen in the United States accounting for 3.4-4.2 per million per year. Molecular studies have revealed that the majority of children with ACT, particularly those younger than 4 years of age, have constitutional TP53 mutations and/or imprinting defects at chromosome 11p as observed in Beckwith Wiedemann syndrome (BWS) patients. Some mutations, as exemplified by the R337H TP53 germline mutation, in which the function of the mutant protein is relatively preserved, the history of cancer in the carriers and their families is relatively unremarkable. In other cases, the TP53 mutated gene encodes a functionally-impaired protein that predicts for a pervasive history of familial cancer (Li-Fraumeni syndrome). Therefore, these observations have implications for genetic counseling of families with childhood ACT and underscore the importance of genotype-phenotype correlations in familial cancer syndromes. The creation of a rare tumor registry provides a mechanism to collect information that cannot be gathered in a single institution. The analysis of the registry data would permit an overview of the clinical, epidemiological, current treatment standards, and survival data of these patients and thus create opportunities for research. It also may facilitate the development of treatment consensus among investigators who register their patients and help to design future studies. Moreover, the combined Children's Oncology Group (COG) and IPACTR studies are expected to provide meaningful insight into the biology of ACT, including clinical phenotype/genotype relationships, treatment outcome and long-term follow-up data in subjects with this rare tumor. Finally, it would provide data on the long-term consequences of exposure to tumor-secreted androgens (found in more than 80% of the pediatric cases) on children's growth and development.
Study Type
Observational
Primary Outcome
Collect demographic/medical information, detailed family history of cancer of children/adolescents with adrenocortical tumors, learn more about the clinical and epidemiological aspects, treatment modalities, and outcome of patients
Condition
Adrenocortical Tumor
Study Arms / Comparison Groups
Participants
Description: Any participant who meets eligibility criteria and consents to participate in the trial.
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Estimated Enrollment
9999
Start Date
October 1, 2001
Completion Date
December 2040
Primary Completion Date
December 2040
Eligibility Criteria
STRATIFICATION ASSIGNMENT: - Stratum A: participant suspected or confirmed diagnosis of adrenocortical tumor (ACT) - Stratum R: relative of participant with ACT and TP53 mutation who has diagnosis of malignancy - Stratum P: biological parent of participant with ACT Inclusion Criteria - Stratum A (participant with ACT): - Age ≤ 21 years old at diagnosis - Suspected or confirmed diagnosis of adrenocortical tumor (adenoma, carcinoma or undefined histology). - Signed informed consent Inclusion Criteria - Stratum R (relative): - Any age - Diagnosis of malignant tumor - Signed informed consent Inclusion Criteria - Stratum P (parent): - Biological parent of Stratum A participant
Gender
All
Ages
N/A - 21 Years
Accepts Healthy Volunteers
No
Contacts
Raul C Ribeiro, MD, 866-278-5833, [email protected]
Location Countries
United States
Location Countries
United States
Administrative Informations
NCT ID
NCT00700414
Organization ID
IPACTR
Responsible Party
Sponsor
Study Sponsor
St. Jude Children's Research Hospital
Study Sponsor
Raul C Ribeiro, MD, Principal Investigator, St. Jude Children's Research Hospital
Verification Date
August 2021