Roles of Tumor Markers in Central Nervous System Germ Cell Tumors Revisited with Histopathology-Proven Cases in a Large International Cohort

Hirokazu Takami, Christopher S. Graffeo, Avital Perry, Caterina Giannini, Yoichi Nakazato, Nobuhito Saito, Masao Matsutani, Ryo Nishikawa, Koichi Ichimura, David J. Daniels

Research output: Contribution to journalArticlepeer-review

Abstract

The central nervous system germ cell tumor (CNS GCT) is a rare and incompletely under-stood disease. A major outstanding question in the 2015 consensus document for CNS GCT management was the utility and interpretation of the tumor markers human chorionic gonadotropin (HCG) and alpha fetoprotein (AFP) in the diagnosis of malignant non-germinomatous GCTs (here-after NGGCTs) prior to treatment. In the current study, we assembled two geographically and eth-nically different clinical cohorts from the Mayo Clinic (1988–2017) and the intracranial GCT Genome Analysis Consortium (iGCT Consortium) in Japan to address this question. Patients with both histopathological diagnosis and tumor markers available were eligible for inclusion (n = 162). Biopsy and surgical resection were performed in 85 and 77 cases, respectively. Among 77 resections, 35 demonstrated positivity for HCG, AFP, or both (45%). Seventeen of the marker-positive cases had no malignant non-germinomatous component identified on histopathology, but they were com-posed strictly of germinoma, teratoma, or both (49%). One embryonal carcinoma was the only marker-negative NGGCT in the study sample. Among 85 biopsies, 18 were marker positive (21%). Seven of these patients had no malignant non-germinomatous component on histopathology, sug-gesting the potential limitations of limited tissue sample volumes. Neither histopathological diagnosis nor tumor markers alone reliably diagnose NGGCTs due to the secretion of HCG and AFP by germinomas and teratomas. Treatment planning should incorporate integrated histopathological and laboratory-based diagnosis to optimize diagnostic and treatment strategies for this unusual and histologically heterogeneous tumor.

Original languageEnglish (US)
Article number979
JournalCancers
Volume14
Issue number4
DOIs
StatePublished - Feb 1 2022

Keywords

  • Alpha fetoprotein
  • Germ cell tumor
  • Human chorionic gonadotropin
  • Tumor marker

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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