Molecular Disease Profile of Hematological Malignancies

NCT02459743 | Unknown

• 1 other identifier: PDS20140005575
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

In this prospective multicentric study, the University of Pavia together with the Fondazione IRCCS Policlinico San Matteo, Pavia and the IRCCS Fondazione Maugeri, Pavia, Italy will provide a systematic analysis of gene mutations in hematological malignancies by using NGS techniques. Patients with a conclusive diagnosis of haematological malignancies according to WHO criteria referred to the Rete Ematologica Lombarda clinical network (REL, www.rel-lombardia.net) will be enrolled. The investigators will analyse genomic DNA extracted from hematopoietic cells at different time points of patient disease. The study contemplates the use of molecular platforms (Next Generation Sequencing, NGS) aimed at the identification of recurrent mutations in myeloid and lymphoid neoplasms, respectively. Screening of gene mutations by NGS will be prospectively implemented in the context of REL clinical network. Patient samples will be analyzed at diagnosis and sequentially during the course of the disease at specific timepoints. The researchers will analyze the correlations between somatic mutations, specific clinical phenotypes (according to the WHO classification) and disease evolution. This will allow to: 1) identify new recurrent genetic mutations involved in the molecular pathogenesis of hematological malignancies; 2) define the role of mutated genes, distinguishing between genes which induce a clonal proliferation of hematopoietic stem cells, and genes which determine the clinical phenotype of the disease; 3) identify mutations which are responsible for disease evolution; 4) define the diagnostic/prognostic role of the identified mutations, and update the current disease classifications and prognostic scores by including molecular parameters. A systematic biobanking of biological material will be provided.

Conditions

Hematological Malignancies

Keywords

Hematological malignancies; Next Generation Sequencing; Genotype-phenotype correlations; Prognosis; Diagnosis

Outcome Measures

Primary Outcomes (1)

• Cumulative incidence of gene mutations in principal clone and subclones in each hematological malignancy

  3 years

Secondary Outcomes (2)

• Genotype-phenotype correlations between clinical characteristics and mutational status

  3 years

• Overall survival and disease-free survival according to clinical and biological risk factors at diagnosis and during disease evolution

  3 years

Study Arms (1)

Patients with hematological malignancies

Patients with a conclusive diagnosis of haematological malignancies according to WHO criteria referred to the Rete Ematologica Lombarda (REL) clinical network will be enrolled. The investigators will analyse genomic DNA extracted from hematopoietic cells at different time points of patient disease. The study contemplates the use of two optimized molecular platforms aimed at the identification of recurrent mutations in myeloid and lymphoid neoplasms, respectively. Screening of gene mutations by NGS will be prospectively implemented in the context of REL clinical network. Patient samples will be analyzed at diagnosis and sequentially during the course of the disease at specific timepoints.

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Patients with a conclusive diagnosis of haematological malignancies according to WHO criteria referred to the Rete Ematologica Lombarda (REL) clinical network will be prospectively enrolled. The investigators will analyse genomic DNA extracted from hematopoietic cells at different time points of patient disease. The study contemplates the use of two optimized molecular platforms aimed at the identification of recurrent mutations in myeloid and lymphoid neoplasms, respectively.

You may qualify if:

• Conclusive diagnosis of myeloid or lymphoid neoplasm according to 2008 WHO criteria
• age ≥ 18 years. There is no upper age limit
• signed written informed consent

You may not qualify if:

• severe neurological or psychiatric disorder interfering with ability to give an informed consent
• no written informed consent

Sponsors & Collaborators

• University of Pavia: lead
• Fondazione IRCCS Policlinico San Matteo di Pavia: collaborator
• Fondazione Salvatore Maugeri: collaborator

Study Sites (1)

Department of Hematology Oncology, IRCCS Policlinico San Matteo & University of Pavia, Italy

Pavia, 27100, Italy

RECRUITING

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Biospecimen

Retention: SAMPLES WITH DNA

We developed a protocol to couple high-throughput sample handling with the power of massively parallel sequencing to sequence all coding exons of a target list of candidate genes in the cancer cells (i.e. peripheral blood granulocytes for myeloid malignancies and mononucleated cells or CD19+ cells for limphoproliferative neoplasms), and normal control cells (i.e. T lymphocytes for myeloid malignancies and buccal cells \[swab\] for lymphoproliferative diseases), from a large, well-characterized prospective cohort of patients with hematological malignancies

MeSH Terms

Conditions

Hematologic Neoplasms; Disease

Condition Hierarchy (Ancestors)

Neoplasms by Site; Neoplasms; Hematologic Diseases; Hemic and Lymphatic Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Matteo G Della Porrta, MD

  University of Pavia (Italy)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Benedetta - Landini

CONTACT

+39 0382 503084; b.landini@smatteo.pv.it

Elena - Fugazza, Biologist

CONTACT

+39 0382 503084; e.fugazza@smatteo.pv.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 2 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD

Study Record Dates

• First Submitted: February 25, 2015
• First Posted: June 2, 2015
• Study Start: February 1, 2015
• Primary Completion: January 1, 2017
• Study Completion: December 1, 2018
• Last Updated: June 8, 2015

Record last verified: 2015-06

Locations

IT (1)