Synchronous glioblastoma and medulloblastoma in a child with mismatch repair mutation

Childs Nerv Syst. 2016 Mar;32(3):553-7. doi: 10.1007/s00381-015-2883-3. Epub 2015 Aug 21.

Abstract

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.

Keywords: Biallelic mismatch repair syndrome; Cis-retinoic acid; Glioblastoma; Synchronous tumors.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Brain Neoplasms / complications
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / therapy
  • Child, Preschool
  • Colorectal Neoplasms / complications*
  • Colorectal Neoplasms / genetics
  • Combined Modality Therapy
  • Cranial Irradiation
  • Fatal Outcome
  • Germ-Line Mutation
  • Glioblastoma / genetics*
  • Glioblastoma / therapy
  • Humans
  • Male
  • Medulloblastoma / genetics*
  • Medulloblastoma / therapy
  • Mismatch Repair Endonuclease PMS2 / genetics
  • MutL Protein Homolog 1 / genetics
  • Neoplasms, Multiple Primary / genetics*
  • Neoplasms, Multiple Primary / therapy
  • Neoplastic Syndromes, Hereditary / complications*
  • Neoplastic Syndromes, Hereditary / genetics
  • Tumor Suppressor Protein p53 / genetics

Substances

  • MLH1 protein, human
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • PMS2 protein, human
  • Mismatch Repair Endonuclease PMS2
  • MutL Protein Homolog 1

Supplementary concepts

  • Turcot syndrome