- Department of Pediatric Neurosurgery, Dana-Dwek Children's Hospital, Tel-Aviv, Israel
- Department of Neurosurgery, Tel-Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel
Correspondence Address:
Shlomi Constantini
Department of Pediatric Neurosurgery, Dana-Dwek Children's Hospital, Tel-Aviv, Israel
DOI:10.4103/2152-7806.104742
Copyright: © 2012 Pencovich N. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.How to cite this article: Pencovich N, Margalit N, Constantini S. Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome. Surg Neurol Int 14-Dec-2012;3:148
How to cite this URL: Pencovich N, Margalit N, Constantini S. Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome. Surg Neurol Int 14-Dec-2012;3:148. Available from: http://sni.wpengine.com/surgicalint_articles/atypical-meningioma-as-a-solitary-malignancy-in-a-patient-with-rothmund-thompson-syndrome/
Abstract
Background:Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by genomic instability and increased risk of various malignancies, especially osteosarcoma and squamous cell carcinoma. We report the first RTS patient who developed a central nervous system (CNS)-related neoplasm.
Case description:A 28-year-old male, previously diagnosed with RTS , developed a massive parasagital lesion, detected by magnetic resonance imaging. The tumor was surgically removed and histologically diagnosed as atypical meningioma. Preoperative symptoms were dramatically improved.
Conclusions:This is the first description of a CNS-related malignancy in RTS patients. Although rare, the genomic instability and additional risk factors of this syndrome should be considered in choosing the course of treatment.
Keywords: Meningioma, RECQL4, Pothmund-Thomson syndrome
INTRODUCTION
Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by cutaneous rash, sparse hair, small stature, skeletal and dental abnormalities, cataracts, premature aging, and an increased risk for cancer, especially malignancies originating from bone and skin tissue.[
CASE REPORT
History
This 28-year-old male, diagnosed with RTS, presented with severe headaches in the last six months accompanied by intermittent dizziness, gait instability, occasional blurry vision, and tinnitus in both ears. No seizures or other neurological symptoms were described. The patient suffered from poikiloderma, thin skin, and sparse hair continuously from the first year of life. Several years prior to the current episode, he underwent a number of leg extension operations using Ilizarov apparatuses due to short stature. Ongoing dental supervision was required from an early age due to dental malformations. His cognitive functions were preserved. No history of malignancies was reported.
Examination
A nonspecific defect in the visual field, more on the left side and accompanied by anisocoria, was identified. The rest of the general and neurological examinations were normal. MR imaging revealed a parietal, extra-axial lesion on the right hemisphere, diagnosed as a parasagital meningioma. Lesion size was approximately 50 × 60 × 64 mm, placing significant stress on the adjacent sulci, right trigone and right hippocampus. Mild posterior trans-tentorial herniation, compressing the midbrain from the right side and resulting in increased aqueduct pressure with no enlargement of the third ventricle, was demonstrated [Figures
Operation
Under general anesthesia, with the aid of standard navigation and microsurgical techniques, the tumor was gross totally removed [Figures
Pathological findings
Pathological examination of the removed tumor demonstrated grade II atypical meningioma (WHO) with mean mitotic count of 10 per 5-mm field and positive Ki67 in 5% of cells.
DISCUSSION
This is the first report of a brain tumor as a single malignancy in a RTS patient. RTS was first described in 1868 by August Rothmund, a German ophthalmologist, as a syndrome consisting of a unique rash associated with bilateral juvenile cataract.[
Recently, mutations in the RECQL4 gene were associated with RTS type-II.[
In the case presented here, the patient developed an atypical meningioma as a solitary malignancy. This is the first report of a nervous system related malignancy developing in a RTS patient. Of course, the possibility that the development of this cancer was merely coincidental with the RTS should be taken under consideration. However, both the patient's young age and the fact that this is his only malignancy point to a causative relationship between the two. Syndromes that are characterized by genomic instability often show increased sensitivity to radiotherapy and chemotherapy. RTS patients have a higher risk of secondary malignancies than patients without a cancer predisposition, and several studies demonstrated increased sensitivity of RTS-derived cells to radiation due to reduced DNA repair abilities.[
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