Leukemia and immuno-oncology

Program

Myeloid neoplasms

Preclinical models

Belongs to

IJC Can Ruti

Contact

Introduction

Juvenile myelomonocytic leukemia (JMML) is a rare and aggressive type of pediatric blood cancer that affects mainly children under two years of age and occurs when bone marrow production of white cells becomes severely dysregulated. Hematopoietic stem cell transplantation (HSCT) is currently the only available treatment for patients, although just two out of three children affected by the disease survive.

Our Research

Since 2020, our work has focused on the study of the molecular mechanisms driving JMML and the exploration of alternative therapeutic strategies specifically designed for these patients. To achieve this, we incorporate different methods into epigenetics, systems biology, functional genomics and biochemistry, to help address critical questions about the origin and progression of JMML and to identify new therapeutic targets for the treatment of this disease.

Our Goals

The specific goals of our research program are as follows:

  1. To create a centralized JMML sample repository and patient-derived xenograft (PDX) collection. In collaboration with clinical teams at different hospitals around the country and with the endorsement of the Spanish Society of Pediatric Hematology and Oncology (SEHOP), we are creating a national JMML patient sample repository and PDX collection, that will be instrumental for the development of our research program.
  2. To develop a comprehensive molecular analysis of JMML patients to define accurate diagnostic and stratification criteria. We aim to explore the non-coding genome of JMML patients to identify new genetic alterations that can drive JMML or contribute to the pathogenesis of the disease by other means. This information will help improve our knowledge of JMML and develop more accurate criteria for the diagnosis and management of JMML patients.
  3. To identify new potential therapeutic targets and develop specific therapies for the treatment of JMML. HSCT is currently the only effective therapy for the treatment of JMML. However, only two out of three children with this disease survive. Thus, new therapies specifically designed to treat JMML patients are needed. To achieve this, we are collaborating with other research groups and with biotechnology companies to identify specific JMML therapeutic targets and explore strategies for their clinical use for the treatment of JMML patients.

We are confident that our results will have an important impact on the diagnosis and treatment of JMML by increasing knowledge of the disease and expanding the therapeutic options open to these patients. Moreover, our close collaboration with clinical teams in the development of this project will guarantee that our most promising discoveries have a rapid and direct impact on JMML patients.

Our Challenges

With our research, we aim to answer the following questions:

  1. What is the relevance of non-coding somatic mutations in the generation and development of JMML?

  2. Can non-coding mutations predict the prognosis of JMML patients?

  3. What are the best therapeutic targets for the development of JMML-specific treatments?

Video

Selected Publications

Current Grants

BFERO2020.03

Fundació d'estudis i recerca oncològica

iSHP2 TARGETED THERAPIES IN JUVENILE MYELOMONOCYTIC LEUKEMIA

Development of cell-based therapies targeting DNA-reactive B cells in SLE

PID2020-117645RA-I00

Ministerio de ciencia e innovación

iSHP2 TARGETED THERAPIES IN JUVENILE MYELOMONOCYTIC LEUKEMIA

Federación española de enfermedades raras

Desarrollo de nuevas terapias celulares para el tratamiento de pacientes de lupus eritematoso sistémico

CA21135

European commission

IMMUNO-model Modelling immunotherapy response and toxicity in cancer

RYC2020-029400-I

Ministerio de ciencia, innovación y universidades

Genetics and molecular mechanisms in hematologic malignancies

2022 FI_B 00595, 2023 FI-2 00595, 2024 FI-3 00595

Agència de gestió d'ajuts universitaris i de recerca

Analysis of the functional impact of non-coding mutations in Juvenile Myelomonocytic Leukemia

2023 INV-2 00011 (200011TC1)

Agència de gestió d'ajuts universitaris i de recerca

Leucemia e Inmuno-Oncología