^
Association details:
Biomarker:DICER1 A1690Gfs*9 + DICER1 E1813Q + KRAS G12L
Cancer:Sarcoma
Regimen: (carboplatin + etoposide IV + ifosfamide)
Direction:Sensitive
Evidence:
Evidence Level:
Sensitive: C4 – Case Studies
New
Source:
Title:

A Case of Primary Intracranial Sarcoma, DICER1-Mutant, in a Child with a Germline DICER1 Mutation

Published date:
07/08/2023
Excerpt:
This paper reports the case of a primary intracranial sarcoma...Molecular testing of the lesion (Illumina Trusight pan-cancer RNA sequencing panel, Hospital of Sick Children, Toronto, Ontario) revealed the following: (1) a DICER1 frame shift insertion (DICER1p.A1690Gfs*9), (2) a DICER1 missense mutation (DICER1pE1813Q), and (3) a KRAS missense mutation (KRASp.G12L)....He was initiated on ICE (ifosfamide, carboplatin, and etoposide) chemotherapy consisting of ifosfamide 3 g/m2 IV on days 1 and 2, carboplatin 500 mg/m2 IV on day 3, escalating up to 600 mg/m2 based on tolerance, and etoposide 150 mg/m2 IV on days 1 and 2, given in 21-day cycles. Following six cycles, the patient had good radiographic response.
DOI:
https://doi.org/10.3390/brainsci13071040