Neoplasms

Symptoms and General Pathology

All Conditions

Eye Diseases

Diseases and Abnormalities at or Before Birth

Rare Diseases

Neoplasm Metastasis

Retinoblastoma

Neoplasms, Neuroepithelial

Neuroectodermal Tumors

Neuroectodermal Tumors, Primitive

Neoplasms, Germ Cell and Embryonal

Neoplasms by Histologic Type

Neoplasms, Glandular and Epithelial

Neoplasms, Nerve Tissue

Retinal Neoplasms

Eye Neoplasms

Eye Diseases, Hereditary

Retinal Diseases

Neuroepithelioma

Children that are currently diagnosed with a retinoblastoma. Blood will be collected and a short questionnaire has to be filled by the parent or legal guardian. Samples will be taken together with standard care blood draw, so no extra venepuncture is required.

Children with an unrelated problem/condition for which surgery is needed Blood will be collected and a short questionnaire has to be filled by the parent or legal guardian. Samples will be taken during standard care blood draw, so no extra venepuncture is required.

Adults that carry a RB1 germline mutation and were diagnosed and treated for retinoblastoma in the past.

Blood will be collected and a short questionnaire has to be filled.

Healthy adult controls Blood will be collected and a short questionnaire has to be filled.

Adults that carry a RB1 germline mutation, were treated for retinoblastoma in the past, and are currently diagnosed with a secondary primary malignancy.

Blood will be collected and a short questionnaire has to be filled. Tumor tissue will be collected during surgery.

Control samples for the Rb survivor group (adult) are already available at the VUMC for the platelet study; unselected volunteers from an anti-cancer campaign. Control samples (adult) for the EV study will be collected in a blooddrive at the Essen site.

Pediatric patients. For the pediatric Rb patients, blood draw is part of standard care (3mth-4y). The control blood samples of healthy children (12) will be drawn from healthy children, where the blood draw is already part of otherwise planned care (e.g. patients which are completely healthy besides having an unrelated problem for which surgery is required). Controls will be age-matched as much as possible.

blood draw

Armida Fabius

Rationale: Individuals with a cancer predisposition due to a mutation in the paradigm tumor suppressor gene RB1, have a high risk to develop the childhood cancer retinoblastoma (Rb). Biopsies are not possible in Rb, before treatment selection. Heritable Rb patients have also a high risk to develop other types of second primary, either childhood or adult, malignancies (SPMs), notably sarcomas and melanomas. Remarkably, SPMs are now the leading cause of death in heritable-Rb-survivors. Unfortunately, there are no well-developed regular surveillance protocols for SPMs in Rb survivors available right now. Recently, new non-invasive cancer test have been developed, based on either RNA-sequencing data from platelets (ThromboSeq), or on extracellular membrane vesicles (EVs) derived from tumor cells present in blood.

Objective:

* Determine the non-cancerous baseline in adult RB1-mutation carriers (heritable-Rb-survivors).
* Contribute to the biobanking of blood and cancerous tissues from RB1-mutation carriers with SPMs.
* The development of blood-based tests, either platelet or EV-based, for the detection of (the type of) tumors in RB1-mutation carriers.

Study design: Cross-sectional multicenter trial.

Study population:

* 40 Rb patients (children),
* 40 controls (children),
* 153 Rb survivors (adults),
* 153 controls (adults),
* 10 Rb survivors with SPM (children/adults).

Main study parameters/endpoints:

* Determine the non-cancerous baseline in adult RB1-mutation carriers (heritable-Rb-survivors).
* Contribute to the biobanking of blood and cancerous tissues from RB1-mutation carriers with SPMs.

Nature and extent of the burden and risks associated with participation, benefit and group relatedness:

Two blood samples totalling 10ml blood will be collected for every participant. Additionally, a short questionnaire has to be filled in concerning their and their family's cancer history. Blood draws will be done, when participants are already present in the hospital for other appointments, and thus no extra visits are required. For all children, blood will be collected through an already present IV, and so no extra venepuncture is required. Children have to be included because Rb is a tumor only present in this patient group.

Serum, white blood cells, platelets, tissue

New Strategies to Detect Cancers in Carriers of Mutations in RB1

New Strategies to Detect Cancers in Carriers of Mutations in RB1: Blood Tests Based on Tumor-educated Platelets, or Extracellular Vesicles.

blood analyses at time of inclusion to determine baseline

Comparison of blood at time of inclusion and blood at time of SPM diagnosis versus tumor tissue (if available)

University Hospital, Essen

Institut Curie

Ligue contre le cancer, France

Amsterdam UMC, location VUmc

Principal Investigator

Respiratory Tract (Lung and Bronchial) Diseases

Lung Neoplasms

Carcinoma, Non-Small-Cell Lung

Carcinoma

Small Cell Lung Carcinoma

Carcinoma, Neuroendocrine

Respiratory Tract Neoplasms

Thoracic Neoplasms

Lung Diseases

Respiratory Tract Diseases

Carcinoma, Bronchogenic

Bronchial Neoplasms

Neuroendocrine Tumors

Adenocarcinoma

Small Cell Lung Cancer

Neuroendocrine Tumor

Xiao Chu, PhD

Zhengfei Zhu, MD

Histology transformation from non-small cell lung cancer (NSCLC) to neuroendocrine carcinomas (NEC), especially from epidermal growth factor receptor (EGFR) mutant lung adenocarcinoma (LADC) to small cell lung cancer (SCLC), is widely recognized as a rare mechanism for NSCLC to confer tyrosine kinase inhibitors (TKIs) resistance. The probability of its occurrence is about 3-14% in NSCLC patients who are resistant to TKI treatment. In addition to EGFR mutations, NSCLC patients carrying ALK/ROS1 mutations and receiving corresponding TKI treatment may also experience NEC transformation(NET).

In a previous study \[Pubmed ID: 35609408\], the investigators demonstrated that NET also develops in NSCLCs without TKI targets or treatments. This phenomenon could be under-recognized, because re-biopsy was less frequently performed in these patients. The investigators had also shown that p53/Rb inactivation might correlated with NET and should be considered for NET risk prediction. In another retrospective studies, it was found that NSCLC patients with RB1/TP53 dual inactivation mutations had a significantly higher probability of NEC pathological transformation than those without RB1/TP53 inactivation mutations (43 times higher than those without mutations). Therefore, the subgroup of NSCLC patients with tumor suppressor gene RB1/TP53 dual inactivation might have elevated risk for NET.

In this study, the investigators proposed to prospectively follow up NSCLC patients with dual RB1/TP53 inactivation (approximately 5% of the total NSCLC). Through prospective and systematic collection of baseline pathological information, clinical treatment process, and imaging data, and as much as possible, repeat pathological biopsies will be performed during disease progression.

Neuroendocrine Transformation in RB1/TP53 Inactivated NSCLC

Neuroendocrine Transformation in RB1 and TP53 Inactivated Non-small Cell Lung Cancer Patients: a Multi-center Prospective Observational Study

Number of patients developed neuroendocrine transformation and its proportion in the entire progressed cohort

Fudan University

Chief physician, Department of Radiation Oncology

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
New Strategies to Detect Cancers in Carriers of Mutations in RB1	NCT04164134	Retinoblastoma Secondary Prima...	blood draw	0 Years - 99 Years	Amsterdam UMC, location VUmc
New Strategies to Detect Cancers in Carriers of Mutations in RB1	NCT04164134	Retinoblastoma Secondary Prima...	blood draw	0 Years - 99 Years	Amsterdam UMC, location VUmc
Neuroendocrine Transformation in RB1/TP53 Inactivated NSCLC	NCT06369181	Neuroendocrine ... Non-small Cell ... Histology Trans...		18 Years -	Fudan University

Spots Global Cancer Trial Database for rb1

Every month we try and update this database with for rb1 cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for rb1

Every month we try and update this database with for rb1 cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for rb1 cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.