10% of cases may be due to genetic mutations

Within the framework of modern hematology, hematological neoplasms with germinal predisposition are becoming an area of ​​research and clinical practice of increasing relevance. In recent II Conference on Hematological Neoplasms of Germinal Predisposition, organized by the Spanish Society of Hematology and Hemotherapy (SEHH)Key achievements and challenges associated with this area were discussed. The event, which attracted almost 300 participants, marked a major milestone: the first Spanish-language manual for the diagnosis and treatment of these pathologies was presented, meeting the growing need for specialized tools in this field.

Germinal predisposition

Hematological neoplasms with germinal predisposition are malignant blood diseases that develop in individuals with hereditary genetic changes. Among the most common is acute myeloid leukemia, often associated with specific genetic variants. According to Andres Jerez, hematologist at the University Hospital of Val d’Hebron and day coordinator, until 10% of patients with hematological cancer They may be carriers of inherited mutations that increase the risk of developing these diseases.

The clinical impact of identifying these mutations extends beyond the patient.

The clinical impact of identifying these mutations extends beyond the patient to family members.. This approach emphasizes the importance of multidisciplinary care, including hematologists, genetic counselors, pediatricians, and other specialists, to provide comprehensive care.

Problems

Despite its recent development, the field of germline hematologic malignancies faces many challenges. One of the main ones is the lack of convincing scientific evidence, given the novelty of these pathologies. Recent studies are beginning to shed light on issues such as the incidence of tumors after allogeneic hematopoietic stem cell transplantation. (alloFG) and the effects of myeloablative therapy in patients with mutations in genes associated with DNA repair.

This training deficit limits the ability of professionals to meet the complex needs of these patients.

Another major challenge is the lack of specialized training in genetic counseling for patients and their families, highlighting the need to integrate genetic counselors into hematology consultations. This training deficit limits the ability of professionals to meet the complex needs of these patients.

Clinical care

Launch Guidelines for diagnosis and clinical treatment of germline predisposition to hematological neoplasias represents significant progress. This document, prepared by 98 experts from various disciplines, provides comprehensive and updated guidance on the treatment of these pathologies. According to the authors, it is a dynamic tool intended to be continually reviewed and updated given the rapid pace of development in the field.

The release of the Guidelines for the Diagnosis and Clinical Treatment of Germline Predisposition to Hematologic Neoplasia represents a significant step forward.

The guidelines are available for review on the SEHH website.making it easier for professionals interested in incorporating these recommendations into their clinical practice.

Translational Research

The area of ​​germline predisposition in hematologic malignancies is under intense research activity with promising translational approaches. Of particular note is the study of clonal hematopoiesis in individuals with germline predisposition, a phenomenon that can provide valuable information about the progression of these diseases. According to JerezThese studies are aimed not only at better understanding the mechanisms of tumor development, but also at identifying potential therapeutic strategies..

The field of germline predisposition in hematologic malignancies is under intense research activity with promising translational approaches.

Treatment of hematological malignancies with germline predisposition requires a collaborative and interdisciplinary approach. In addition to hematologists, pediatricians, genetic counselors, bioinformaticians, biomedical ethicists and psycho-oncologists also play an important role. This model not only improves diagnosis and treatment, but also optimizes emotional and ethical support for patients and their families..

Multidisciplinary approach

The inclusion of germline predisposition in the clinical practice of hematology represents a paradigmatic change that expands diagnostic and therapeutic perspectives. Although significant challenges remain, such as the need for more extensive scientific data and specialized training, the progress made to date is promising. Through events such as the II Conference and the publication of tools such as clinical guidelines, SEHH is positioned as a leader in the development and dissemination of knowledge in this field.

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SEHH is positioned as a leader in the development and dissemination of knowledge in this field..

These collective efforts strengthen the scientific community’s commitment to more precise and personalized treatments that address the genetic and social complexities inherent in these pathologies. Ultimately, future developments in this field promise to transform the way we diagnose, treat, and prevent germline-predisposed hematologic malignancies.benefiting not only current patients, but also future generations.

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