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 CASE REPORT
Year : 2022  |  Volume : 70  |  Issue : 2  |  Page : 772--774

Germline Biallelic Mismatch Repair Deficiency in Childhood Glioblastoma and Implications for Clinical Management


1 Department of Pediatric Hematology and Oncology, Tata Medical Center, Kolkata, West Bengal, India
2 Department of Radiation Oncology, Tata Medical Center, Kolkata, West Bengal, India
3 Department of Histopathology, Tata Medical Center, Kolkata, West Bengal, India
4 Department of Neurosurgery, Tata Medical Center, Kolkata, West Bengal, India
5 Department of Radiology, Tata Medical Center, Kolkata, West Bengal, India
6 Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada
7 Division of Hematology and Oncology; Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada
8 Department of Pediatric Hematology and Oncology, Tata Medical Center, Kolkata, West Bengal, India; Division of Hematology and Oncology; Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada

Correspondence Address:
Dr. Anirban Das
Consultant, Pediatric Hematology/Oncology, Tata Medical Center. 14, Major Arterial Road (EW), Rajarhat, New Town, Kolkata - 700 160, West Bengal

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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.344608

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We report a case of a 9-year-old boy with glioblastoma with a past history of colon cancer. Germline bi-allelic DNA-mismatch repair deficiency was diagnosed by a lack of immunohistochemical staining for PMS2 in the tumor and normal tissue. Family history was lacking. Sequencing confirmed compound heterozygous PMS2 mutations. A second hit in the DNA-polymerase-ε gene led to complete DNA-replication repair deficiency. This contributed to an ultra-hypermutated phenotype. Temozolomide was excluded from the treatment. PD-1 immunotherapy at recurrence contributed to extending post-relapse survival up to 11 months. Challenges included managing initial immune “flare” related to “pseudo-progression” and access to drug. Family screening diagnosed the sibling with Lynch syndrome. This is the first report of a child with a brain tumor treated with immunotherapy from India. Our report supports the routine inclusion of immunohistochemistry for mismatch repair proteins in the evaluation of pediatric high-grade glioma as this may directly impact the clinical care of these children and families.






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