Sub-type Specific Genomic Mutations in sBOTs

Universitair Ziekenhuis Brussel

Status: Enrolling

Conditions: Ovarian Neoplasm Epithelial

Treatments: Genetic: genomic mutations study

Study type: Observational

Funder types: Other

Identifiers

NCT03883542

sBOT

Details and patient eligibility

About

The aim of this study is to identify different origin in carcinogenesis between serous borderline ovarian tumors presenting a. without implants, b. with non-invasive implants, c. with invasive implants and d. with micropapillary pattern.

The presence of specific mutations could suggest for a more aggressive primary treatment if a higher risk of recurrence can be expected.

Full description

Introduction Borderline Ovarian Tumors (BOTs) behave indolently in the vast majority of cases and the prognosis is usually favorable. There is more evidence that two subtypes of BOTs represent a higher risk of recurrence or even progression to an invasive ovarian cancer. In case of a presentation with a micro-papillary grow pattern or when invasive implants are diagnosed the prognosis tend to be less favorable.

Genome sequencing in ovarian cancer helped to differentiate two different pathways in the carcinogenesis.

Low grade serous carcinomas evolving from adenofibromas or borderline tumors over non-invasive micropapillary serous borderline tumors to invasive micropapillary serous carcinoma, show frequent mutations in the Kirsten Rat Sarcoma gene (KRAS), B-Raf Kinase gene(BRAF), Erb-B2 Receptor Tyrosine Kinase 2 gene (ERBB2), Phosphatase and Tensin homolog gene (PTEN), Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha gene (PIK3CA) and Catenin Beta 1 gene (CTNNB1). This pathway is called Type I and is characterized by a slow step-wise process. These low-grade invasive tumors are indolent and are known with a better outcome than high-grade invasive tumors.

In contrast the Type II pathway development of invasive tumors is rapid and vast majority of tumors show a Tumor Protein p53 (TP53) mutation and loss of Breast Cancer type 1 susceptibility protein (BRCA1).

The aim of this study is to identify different origin in carcinogenesis between serous borderline ovarian tumors presenting a. without implants, b. with non-invasive implants, c. with invasive implants and d. with micropapillary pattern.

The presence of specific mutations could suggest for a more aggressive primary treatment if a higher risk of recurrence can be expected.

Enrollment: 20 estimated patients

Sex: Female

Ages: 18+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Paraffin embedded material from the original borderline ovarian tumor must be present and of good quality for DNA extraction.
• Original slides are available for central pathological review.

Exclusion criteria

• Presence of invasive ovarian carcinoma.

Trial design

20 participants in 4 patient groups

serous BOT

Description:

simple serous BOT ovarian tissue

Treatment:

Genetic: genomic mutations study

serous BOT with non-invasive implants

Description:

BOT ovarian tissue presenting with non-invasive implants

Treatment:

Genetic: genomic mutations study

sBOT with micropapillary grow pattern

Description:

BOT ovarian tissue presenting with micropapillary grow pattern

Treatment:

Genetic: genomic mutations study

serous BOT with invasive implants

Description:

sBOT ovarian tissue presenting with invasive implants at the time of diagnosis

Treatment:

Genetic: genomic mutations study