Back to Search
Start Over
Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an IDH1-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD
- Source :
- Current Oncology, Current Oncology, Vol 28, Iss 74, Pp 757-766 (2021)
- Publication Year :
- 2021
- Publisher :
- MDPI, 2021.
-
Abstract
- Constitutional mismatch repair deficiency (CMMRD) is a rare autosomal recessive hereditary cancer syndrome due to biallelic germline mutation involving one of the four DNA mismatch repair genes. Here we present a case of a young female with CMMRD, homozygous for the c.2002A>G mutation in the PMS2 gene. She developed an early stage adenocarcinoma of the colon at the age of 14. Surveillance MRI of the brain at age 18 resulted in the detection of an asymptomatic brain cancer. On resection, this was diagnosed as an anaplastic astrocytoma. Due to emerging literature suggesting benefit of immunotherapy in this patient population, she was treated with adjuvant dual immune checkpoint inhibition, avoiding radiation. The patient remains stable with no evidence of progression 20 months after resection. The patient’s clinical course, as well as the rational for considering adjuvant immunotherapy in patients with CMMRD are discussed in this report.
- Subjects :
- 0301 basic medicine
tumor mutational burden
medicine.medical_treatment
Case Report
03 medical and health sciences
0302 clinical medicine
Germline mutation
Adjuvant therapy
PMS2
constitutional mismatch repair deficiency
Medicine
RC254-282
business.industry
screening
Neoplasms. Tumors. Oncology. Including cancer and carcinogens
adjuvant therapy
Immunotherapy
medicine.disease
Immune checkpoint
CMMRD
030104 developmental biology
030220 oncology & carcinogenesis
Cancer research
surveillance
Adenocarcinoma
DNA mismatch repair
immunotherapy
business
checkpoint inhibitors
Anaplastic astrocytoma
Subjects
Details
- Language :
- English
- ISSN :
- 17187729 and 11980052
- Volume :
- 28
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- Current Oncology
- Accession number :
- edsair.doi.dedup.....ef20cb0351428b1f0b8c763abfe8bd91