{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:22:15Z","timestamp":1787775735002,"version":"build-2784847793"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic toggle=\"yes\">PMS2<\/jats:italic>\n                    mutations. A second hit in the\n                    <jats:italic toggle=\"yes\">DNA-polymerase-\u03b5<\/jats:italic>\n                    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 \u201cflare\u201d related to \u201cpseudo-progression\u201d 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.\n                  <\/jats:p>","DOI":"10.4103\/0028-3886.344608","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T04:05:56Z","timestamp":1692849956000},"page":"772-774","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":9,"title":["Germline Biallelic Mismatch Repair Deficiency in Childhood Glioblastoma and Implications for Clinical Management"],"prefix":"10.4103","volume":"70","author":[{"given":"Avijeet K.","family":"Mishra","sequence":"first","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rimpa B.","family":"Achari","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lateef","family":"Zameer","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gopal","family":"Achari","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anisha","family":"Gehani","sequence":"additional","affiliation":[{"name":"Department of Radiology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paromita","family":"Roy","sequence":"additional","affiliation":[{"name":"Department of Histopathology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumedha","family":"Sudhaman","sequence":"additional","affiliation":[{"name":"Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa","family":"Bianchi","sequence":"additional","affiliation":[{"name":"Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa","family":"Edwards","sequence":"additional","affiliation":[{"name":"Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saugata","family":"Sen","sequence":"additional","affiliation":[{"name":"Department of Radiology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reghu K.","family":"Sukumaran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpita","family":"Bhattacharyya","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Tata Medical Center, Kolkata, West Bengal, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uri","family":"Tabori","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, Toronto, Canada"},{"name":"Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anirban","family":"Das","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology and Oncology, Tata Medical Center, Kolkata, West Bengal, India"},{"name":"Division of Hematology and Oncology, Toronto, Canada"},{"name":"Peter Gilgan Center for Research and Learning, The Hospital for Sick Children, Toronto, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,5,3]]},"reference":[{"key":"R1-20260803","first-page":"1","article-title":"Declines in Cancer Death Rates Among Children and Adolescents in the United States, 1999-2014","volume":"257","author":"Curtin","year":"2016","journal-title":"NCHS Data Brief"},{"key":"R2-20260803","first-page":"153","article-title":"Pediatric high-grade glioma: Biologically and clinically in need of new thinking","volume":"19","author":"Jones","year":"2017","journal-title":"Neuro Oncol"},{"key":"R3-20260803","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1093\/neuonc\/noz108","article-title":"Germline genetic landscape of pediatric central nervous system 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