Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.

ABSTRACT:

Background

Predisposition to myeloid malignancies is a field at the border of hematology and genetics. Knowledge in this domain has so rapidly increased that WHO defined in 2016 the new "Myeloid Neoplasms with Germline Predisposition" category of tumors. High throughput sequencing is frequently performed in tumors either for diagnosis or prognosis, but this approach may identify potential germline variants that have to be confirmed on non-infiltrated tissues.

Method

In this study, we systematically compared NGS data from genetic analysis performed on all sample types (bone marrow, blood, saliva, skin fibroblasts and hair follicles) in 29 patients, and 44 of their relatives (blood and saliva).

Results

We showed that saliva was usable for relatives, but only for 24% (7/

SUBMITTER: Perani A 

PROVIDER: S-EPMC10008954 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature