Pediatric bone marrow failure: Clinical, hematological and targeted next generation sequencing data.
Blood Cells Mol Dis
; 87: 102510, 2021 03.
Article
in En
| MEDLINE
| ID: mdl-33197791
ABSTRACT
OBJECTIVE:
In this study, clinico-hematological, genetic and outcome profile of children with BMF was evaluated to delineate the underlying genotype and phenotype.DESIGN:
Cases were evaluated as two groups Group 1 (n = 56; DBA-23, FA-18, DC-2, UBMFS-13) included children with suspected IBMFS based on clinical phenotype and accessible lab investigations and Group 2 (n = 53) included children with IAA treated with IST. Targeted NGS was carried out in a subset of these children (n = 42) and supplemented with WES wherever required.RESULTS:
We identified causative mutation in overall 15 of 27 tested children (55.5%) in group 1 and 2 of 15 tested children (13.3%) in group 2. In DBA, a mutation was noted in 50% cases with involvement of RPS 19 (75%) and RPL5 (25%) genes. Phenotypic abnormalities were present in 69.5% and response to steroids in 68.4% of cases at a median follow up of 33 months. In children with IAA, overall response (complete + partial) was present in 51% at a median follow up of 23 months. The 3-year OS and FFS for the cohort of IAA were 68% and 48% respectively. Targeted sequencing could also pick up germline mutations in 50% of UBMFS cases and nearly 19% of IAA cases.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Bone Marrow Failure Disorders
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Newborn
Language:
En
Journal:
Blood Cells Mol Dis
Journal subject:
HEMATOLOGIA
Year:
2021
Type:
Article
Affiliation country:
India