Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients.
Rosdali Diaz CoronadoMartin MynarekChristian KoelschePamela Mora AlferezSandro Casavilca ZambranoAntonio Wachtel AptowitzerFelix SahmAndreas von DeimlingUlrich SchüllerMichael SpohnDominik SturmStefan M PfisterAndres Morales La MadridRaymundo Sernaque QuintanaGustavo Sarria BardalesTatiana Negreiros ChinchihuaraLuis Ojeda MedinaPamela Garcia-Corrochano MedinaDanny A Campos SanchezJimena Ponce FarfanStefan RutkowskiJuan L Garcia LeonPublished in: Cancer (2021)
A high incidence of primary pediatric central nervous system sarcomas in the Peruvian population is described. Using sequencing technologies and DNA methylation profiling, it is confirmed that these tumors molecularly belong to the recently proposed entity "primary central nervous system sarcomas, DICER1 mutant." Unexpectedly, DICER1 mutations as well as all other defining tumor mutations (TP53 mutations and RAS-pathway mutations) were not inherited in all 19 patients where analyzation was possible. These tumors have an aggressive clinical course. Multimodal combination therapy based on surgery, ifosfamide, carboplatin, and etoposide chemotherapy, and local radiotherapy leads to superior outcomes.
Keyphrases
- end stage renal disease
- combination therapy
- dna methylation
- newly diagnosed
- ejection fraction
- chronic kidney disease
- gene expression
- radiation therapy
- type diabetes
- clinical trial
- single cell
- cerebrospinal fluid
- locally advanced
- high grade
- chronic pain
- percutaneous coronary intervention
- insulin resistance
- adipose tissue
- copy number
- radiation induced