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Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation
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Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation
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Journal Article
Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation
2016
Overview
Synchronous primary malignant brain tumors are rare. We present a 5-year-old boy with synchronous glioblastoma and medulloblastoma. Both tumor samples had positive p53 stain and loss of PMS2 and MLH1 stains. The child had multiple café au lait spots and a significant family history of cancer. After subtotal resection of both tumors, he received craniospinal radiation with concomitant temozolomide followed by chemotherapy, alternating cycles of cisplatin/lomustine/vincristine with temozolomide. Then, he started maintenance treatment with cis-retinoic acid (100 mg/m
2
/day for 21 days). He remained asymptomatic for 34 months despite a follow-up brain MRI consistent with glioblastoma relapse 9 months before his death. Cis-retinoic acid may have contributed to prolong survival in this child with a probable biallelic mismatch repair syndrome.
Publisher
Springer Berlin Heidelberg,Springer Nature B.V
Subject
Antineoplastic Combined Chemotherapy Protocols - therapeutic use
/ Brain Neoplasms - complications
/ Colorectal Neoplasms - complications
/ Colorectal Neoplasms - genetics
/ Edema
/ Glioma
/ Humans
/ Male
/ Medicine
/ Mismatch Repair Endonuclease PMS2 - genetics
/ Mutation
/ MutL Protein Homolog 1 - genetics
/ Neoplasms, Multiple Primary - genetics
/ Neoplasms, Multiple Primary - therapy
/ Neoplastic Syndromes, Hereditary - complications
/ Neoplastic Syndromes, Hereditary - genetics
/ Patients
/ Tumor Suppressor Protein p53 - genetics
/ Tumors
/ Yeast
