Hereditary hematological malignancies syndromes (HHMS) are still underdiagnosed. Yet, it proves essential to correctly identify these disorders in order to select the most appropriate conditioning regimen before transplantation and exclude an inherited mutation in sibling donors, while ensuring personal and familial counseling. We retrospectively reviewed 252 patients from 117 families with a personal or familial history of multiple cancers, including at least one hematological malignancy. A familial mutation was identified in eight families (GATA2, TERT, FANCA, TP53, PTCH1, BRCA1 and ATM), resulting in specific management and familial screening. This study highlights the necessity of early HHMS diagnosis through a close collaboration between hematologists and geneticists. To finish, we present recommendations to better diagnose and manage HHMS on the basis of our observations and the literature.
What is already known about the topic?
Hereditary predisposition to hematological malignancies has long been underestimated. As of today, nearly a hundred genes that likely predispose to hematological malignancies have been identified using new sequencing technologies. Currently, it is estimated that a hereditary predisposition is present in nearly 10% of individuals suffering from a hematological malignancy, mainly of the myeloid type. Their proper identification bears crucial consequences for managing these patients, as well as for the pre-symptomatic diagnosis. In addition, there is little or no consensus at all nor are there evidence-based recommendations as regards oncogenetic counseling and managing patients with HMHD and their families.
What does this article bring up for us?
This article sought to provide a review of the existing recommendations, oncogenetic counseling, and care of patients suffering from a SPHHM, along with their families. The multicenter retrospective study carried out in this context has been an opportunity for us to recall the benefits of identifying these predisposing syndromes, in addition to the relevance of a close collaboration between onco-hematologists and geneticists.
Key Words
Malignant hemopathy, hereditary predisposition, genetics, genetic counseling