PRESENCE OF BRAFV600E MUTATION IN CHILDHOOD LCH CORRELATES WITH MULTISYSTEM DISEASE AND A POOR SURVIVAL
Author(s): ,
Prateek Bhatia
Affiliations:
Pediatric Hematology-oncology Unit, Department of Pediatrics,PGIMER,chandigarh,India
,
Minu Singh
Affiliations:
Pediatric Hematology-oncology Unit, Department of Pediatrics,PGIMER,chandigarh,India
,
Radhika Srinivasan
Affiliations:
cytopathology,PGIMER,chandigarh,India
,
Nandita Kakkar
Affiliations:
histopathology,PGIMER,chandigarh,India
,
Amita Trehan
Affiliations:
Pediatric Hematology-oncology Unit, Department of Pediatrics,PGIMER,chandigarh,India
Deepak Bansal
Affiliations:
Pediatric Hematology-oncology Unit, Department of Pediatrics,PGIMER,chandigarh,India
EHA Library. Bhatia P. Jun 14, 2019; 266290; PF490
Dr. Prateek Bhatia
Dr. Prateek Bhatia
Contributions
Abstract

Abstract: PF490

Type: Poster Presentation

Presentation during EHA24: On Friday, June 14, 2019 from 17:30 - 19:00

Location: Poster area

Background
Reports in LCH have observed BRAFV600E mutation in 35-40% cases of LCH and have demonstrated its relation with poor outcome. 

Aims
The aim of the study was to detect the presence of BRAFV600E mutation in children with LCH and to correlate with survival. 

Methods
Retrospective, Single centre, Case-control study. Biopsy or FNAC diagnosed and immunochemistry confirmed (CD1a and S-100 +ve) cases of LCH over 5-years were retrieved. RQ-PCR as well as Sanger sequencing for BRAFV600E mutation was performed. Ten cases of non-LCH histiocytic proliferations were run as controls. 

Results
Thirty-five LCH cases enrolled. 4 cases were excluded due to poor quality of DNA and 2 due to lack of follow up. The mean age was 2.5 years (0.4-11 yrs). Unisystem involvement was noted in 13/28 (46.5%) cases and multisystem in 15/28 (53.5%), including 13 with risk organ involvement. Of the 28 samples run on RQ-PCR, BRAFV600E mutation was identified in 6/28 (21%) cases. The copy number threshold (Ct) values of positive cases ranged from 25.8-34.1 with a mean of 30.2. Sanger sequencing in all 28 samples confirmed positivity in 5/6 cases. One case did not yield reportable reads. There were no false negatives noted. Ten events (36%) were recorded, including 4 (14%) disease relapse, 3 (11%) deaths and 3 (11%) with progressive disease. All patients positive for mutation had multisystem involvement (100%) (p 0.0348), an EFS at 3-years of 17% vs. 72% in negative group (p 0.0110) and an OS of 32.5% vs. 82% (p 0.0330). The lower BRAFV600E positivity than west could be likely due to archival samples and degraded DNA. 

Conclusion

The frequency for BRAFV600E positivity was low (21%), however, all positive cases had multisystem involvement and a poor 3-year survival, confirming BRAFV600E to be a poor prognostic marker.

Session topic: 18. Indolent and mantle-cell non-Hodgkin lymphoma - Clinical

Keyword(s): Mutation, Pediatric

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