Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD
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 <...
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| Format: | Article |
| Language: | English |
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MDPI AG
2021-02-01
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| Series: | Current Oncology |
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| Online Access: | https://www.mdpi.com/1718-7729/28/1/74 |
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| author | Rebekah Rittberg Craig Harlos Heidi Rothenmund Anirban Das Uri Tabori Namita Sinha Harminder Singh Bernie Chodirker Christina A. Kim |
| author_facet | Rebekah Rittberg Craig Harlos Heidi Rothenmund Anirban Das Uri Tabori Namita Sinha Harminder Singh Bernie Chodirker Christina A. Kim |
| author_sort | Rebekah Rittberg |
| collection | DOAJ |
| description | 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 <i>PMS2</i> 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. |
| first_indexed | 2024-03-10T08:00:27Z |
| format | Article |
| id | doaj.art-cff417ce10f14a3ba83db4cc1bf154eb |
| institution | Directory Open Access Journal |
| issn | 1198-0052 1718-7729 |
| language | English |
| last_indexed | 2024-03-10T08:00:27Z |
| publishDate | 2021-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Current Oncology |
| spelling | doaj.art-cff417ce10f14a3ba83db4cc1bf154eb2023-11-22T11:31:30ZengMDPI AGCurrent Oncology1198-00521718-77292021-02-0128175776610.3390/curroncol28010074Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRDRebekah Rittberg0Craig Harlos1Heidi Rothenmund2Anirban Das3Uri Tabori4Namita Sinha5Harminder Singh6Bernie Chodirker7Christina A. Kim8Section of Hematology/Oncology, Department of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 0V9, CanadaSection of Hematology/Oncology, Department of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 0V9, CanadaDepartment of Biochemistry and Medical Genetics, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R3E 0J9, CanadaDivision of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, CanadaDivision of Hematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, CanadaDepartment of Pathology, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 3P5, CanadaSection of Gastroenterology, Department of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3A 1R9, CanadaDepartment of Biochemistry and Medical Genetics, Max Rady College of Medicine, University of Manitoba, Winnipeg, MB R3E 0J9, CanadaSection of Hematology/Oncology, Department of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 0V9, CanadaConstitutional 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 <i>PMS2</i> 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.https://www.mdpi.com/1718-7729/28/1/74constitutional mismatch repair deficiencyCMMRDimmunotherapyadjuvant therapycheckpoint inhibitorsscreening |
| spellingShingle | Rebekah Rittberg Craig Harlos Heidi Rothenmund Anirban Das Uri Tabori Namita Sinha Harminder Singh Bernie Chodirker Christina A. Kim Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD Current Oncology constitutional mismatch repair deficiency CMMRD immunotherapy adjuvant therapy checkpoint inhibitors screening |
| title | Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD |
| title_full | Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD |
| title_fullStr | Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD |
| title_full_unstemmed | Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD |
| title_short | Immune Checkpoint Inhibition as Primary Adjuvant Therapy for an <i>IDH1</i>-Mutant Anaplastic Astrocytoma in a Patient with CMMRD: A Case Report—Usage of Immune Checkpoint Inhibition in CMMRD |
| title_sort | immune checkpoint inhibition as primary adjuvant therapy for an i idh1 i mutant anaplastic astrocytoma in a patient with cmmrd a case report usage of immune checkpoint inhibition in cmmrd |
| topic | constitutional mismatch repair deficiency CMMRD immunotherapy adjuvant therapy checkpoint inhibitors screening |
| url | https://www.mdpi.com/1718-7729/28/1/74 |
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