To investigate the genetic variants related to complement factors in Japanese pediatric patients with transplant-associated thrombotic microangiopathy (TA-TMA) following hematopoietic stem cell transplantation (HSCT).
Approach:
Patient Selection: 44 Japanese pediatric patients who underwent HSCT were selected, including 20 with TA-TMA and 24 without.
Genetic Analysis: Targeted sequencing of 40 complement- and coagulopathy-related genes was performed, including 17 known to be related to TA-TMA.
Variant Examination: CFHR1/CFHR3 deletions were examined using multiplex ligation-dependent probe amplification.
Key Findings:
No significant difference in the percentage of patients bearing genetic variants between those with and without TA-TMA.
No known pathogenic variants causing TA-TMA were identified.
A novel rare variant in the C1r-like protein (C1RL) gene was found in one patient with neuroblastoma.
Interpretation:
The study did not find an enrichment of rare variants among the analyzed genes in the cohort of Japanese pediatric patients with TA-TMA.
Limitations:
Small sample size of 44 patients.
Findings may not be generalizable to larger populations.
Conclusion:
Further studies with larger cohorts are necessary to clarify the genetic association in Japanese patients with TA-TMA.
Boston magazine has named more than 145 physicians affiliated with Dana-Farber Cancer Institute to its annual "Top Doctors" guide. Drawing from a Castle Connolly Medical Ltd. physician database, the Boston magazine Top Doctors™ list draws from hundreds of Boston-area physicians in many medical specialties
