Turner syndrome and meningioma: Support for a possible increased risk of neoplasia in Turner syndrome |
| |
Affiliation: | 1. Medical Genetics Unit, MassGeneral Hospital for Children, Boston, MA, USA;2. Stephen E. & Catherine Pappas Center for Neuro-Oncology, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA;3. Department of Neurology, Massachusetts General Hospital, Boston, MA, USA;4. Department of Pathology, Massachusetts General Hospital, Boston, MA, USA;5. Department of Radiation Oncology, Massachusetts General Hospital, Boston, MA, USA;6. Department of Medicine, Massachusetts General Hospital, Boston, MA, USA;7. Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, USA;8. Broad Institute of MIT and Harvard, Boston, MA, USA;1. Center for Neurologic Diseases, Brigham & Women''s Hospital, Harvard Medical School, Boston, MA, United States;2. Broad Institute of MIT and Harvard, 7 Cambridge Center, Cambridge, MA, United States;1. Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;2. Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel;3. Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel;4. Pediatric Neurology Unit, Wolfson Medical Center, Holon, Israel;5. Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;6. Division of Inborn Metabolic Diseases, University Children''s Hospital, Im Neuenheimer Feld, Heidelberg, Germany;1. Division of Genetics and Genomics, Department of Medicine, Boston Children’s Hospital, Boston, MA 02115, USA;2. Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA 02115, USA;3. Howard Hughes Medical Institute, Boston Children’s Hospital, Boston, MA 02115, USA;4. Department of Orthopedic Research, Boston Children’s Hospital, Boston, MA 02115, USA;5. Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA;6. Harvard MD-PhD MSTP Program, Harvard Medical School, Boston, MA 02115, USA;7. Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA;8. Department of Neurology, Harvard Medical School, Boston, MA 02115, USA;9. Department of Genetics, Harvard Medical School, Boston, MA 02115, USA;10. Pediatric Neurology Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA;11. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard University, Cambridge, MA 02142, USA;12. Clinical and Metabolic Genetics Division, Department of Pediatrics, Hamad Medical Corporation, Doha, 3050, Qatar;13. Department of Pediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates;14. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia;15. Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia;16. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia;17. Department of Pharmacognosy, College of Pharmacy, King Saud University, Riyadh 11451, Saudi Arabia;18. Department of Biochemistry and Biophysics, Cardiovascular Research Institute, University of California, San Francisco, San Francisco, CA 94158, USA;21. Department of Genetic Medicine and Development, Geneva University, Geneva 1211, Switzerland;22. Department of Paediatrics, National University of Singapore, Singapore 119260, Singapore;23. Department of Paediatrics, Faculty of Medicine, University of Jordan, Amman, 11942, Jordan;1. Division of Neurocritical Care and Emergency Neurology, Department of Neurology, Massachusetts General Hospital, Boston, MA, USA;2. Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA, USA;3. Program in Medical and Population Genetics, Broad Institute, Cambridge, MA, USA;4. Athinoula A. Martinos Center for Biomedical Imaging, Department of Radiology, Massachusetts General Hospital, Charlestown, MA, USA;5. Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA, USA;6. Department of Radiology, University of California, San Diego, CA, USA;7. VA Boston Healthcare System, Boston, MA, USA;1. Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA;2. Department of Chemical Engineering, Massachusetts Institute of Technology, Cambridge, MA 02139, USA;3. The Broad Institute of MIT and Harvard, Cambridge, MA 02412, USA |
| |
Abstract: | Neoplasia is uncommon in Turner syndrome, although there is some evidence that brain tumors are more common in Turner syndrome patients than in the general population. We describe a woman with Turner syndrome (45,X) with a meningioma, in whom a second neoplasia, basal cell carcinomas of the scalp and nose, developed five years later in the absence of therapeutic radiation. Together with 7 cases of Turner syndrome with meningioma from a population-based survey in the United Kingdom, and 3 other isolated cases in the literature, we review this small number of patients for evidence of risk factors related to Turner syndrome, such as associated structural anomalies or prior treatment. We performed histological and fluorescent in situ hybridization (FISH) of 22q (NF2 locus) analyses of the meningeal tumor to search for possible molecular determinants. We are not able to prove causation between these two entities, but suggest that neoplasia may be a rare associated medical problem in Turner syndrome. Additional case reports and extension of population-based studies are needed. |
| |
Keywords: | Aortic dissection Meningioma NF2 Pseudocoarctation Sex chromosome abnormality syndrome Turner syndrome |
本文献已被 ScienceDirect 等数据库收录! |
|