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Updated: Mar 29, 2026
Author Spotlight: A Single-Entry Point Endoscopic Intraventricular Approach for Third Ventriculostomy and Pineal Biopsy
Published on: June 28, 2024
Common molecularcytogenetic alterations in tumors originating from the pineal region
Florian Böhrnsen1, Christina Enders2, Hans-Christoph Ludwig3
1Clinic of Oral and Maxillofacial Surgery, Georg-August University Göttingen, Göttingen D-37075, Germany.
Abstract:
Tumors of the pineal region (PR) are rare and can be subdivided into four main histomorphological groups: Pineal-parenchymal tumors (PPT), germ cell tumors (GCT), glial tumors and miscellaneous tumors. The appropriate pathological classification and grading of these malignancies is essential for determining the clinical management and prognosis. However, an early diagnosis is often delayed due to unspecific clinical symptoms, and histological support is not always decisive to identify the diversity of tumors of the PR. The present study aimed to characterize 18 tumors of the PR using comparative genomic hybridization. All the tumors were primarily surgically resected without any previous irradiation or chemotherapy. In addition to chromosomal aberrations in PPT and different GCTs of the PR, the present study described, for the first time, the chromosomal changes in a few rare entities (solitary-fibrous and neuroendocrine tumors) of the PR. The tumors in the study, regardless of histology and World Health Organization grade, were characterized by frequent gains at 7, 9q, 12q, 16p, 17 and 22q, and losses at 13q. While the detection of chromosomal aberrations in these tumors appears not to be indicative enough of histological entities and their grade of malignancy, the present data may be of use to select genes of interest for higher resolution genomic analyses.
Insights
Genomic analysis of rare pineal region tumors revealed frequent chromosomal gains and losses, irrespective of tumor type or grade. These findings provide insights into potential genetic targets for further research into pineal region malignancies.
Area of Science:
- Neuro-oncology
- Genetics
- Pathology
Background:
- Pineal region (PR) tumors are rare, with diverse histomorphological subtypes including pineal-parenchymal tumors (PPT) and germ cell tumors (GCT).
- Accurate classification and grading are crucial for prognosis and treatment, but diagnosis can be challenging due to nonspecific symptoms and histological ambiguity.
- Understanding the genetic landscape of PR tumors is essential for improved diagnosis and targeted therapies.
Purpose of the Study:
- To characterize the chromosomal aberrations in 18 surgically resected pineal region tumors using comparative genomic hybridization (CGH).
- To identify common and novel chromosomal alterations across different histomorphological groups and World Health Organization (WHO) grades of PR tumors.
- To explore the potential of CGH in identifying genetic markers for PR tumor classification and future research.
Main Methods:
- Comparative genomic hybridization (CGH) was performed on 18 primary surgically resected pineal region tumors.
- Tumors included various histomorphological subtypes, including PPT, GCT, and rare entities like solitary-fibrous and neuroendocrine tumors.
- No patients had received prior irradiation or chemotherapy.
Main Results:
- Frequent chromosomal gains were observed at chromosomes 7, 9q, 12q, 16p, 17, and 22q across all studied PR tumors.
- Consistent chromosomal losses were identified at 13q in the majority of tumors.
- These chromosomal aberrations were present regardless of the specific histology or WHO grade of the pineal region tumors.
Conclusions:
- Comparative genomic hybridization reveals common chromosomal aberrations in pineal region tumors, suggesting shared underlying genetic alterations.
- While specific aberrations may not definitively distinguish histological subtypes or grades, the identified chromosomal changes offer valuable targets for further genomic investigation.
- The study highlights the utility of CGH in characterizing rare tumors and provides a foundation for selecting candidate genes for higher-resolution genomic analyses.
