Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome
Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority...
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| Format: | Article |
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MDPI AG
2021-05-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/6/1005 |
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| author | Mariachiara Lodi Antonio Marrazzo Antonella Cacchione Marina Macchiaiolo Antonino Romanzo Luciano Mastronardi Francesca Diomedi-Camassei Alessia Carboni Andrea Carai Carlo Gandolfo Lidia Monti Angela Mastronuzzi Giovanna Stefania Colafati |
| author_facet | Mariachiara Lodi Antonio Marrazzo Antonella Cacchione Marina Macchiaiolo Antonino Romanzo Luciano Mastronardi Francesca Diomedi-Camassei Alessia Carboni Andrea Carai Carlo Gandolfo Lidia Monti Angela Mastronuzzi Giovanna Stefania Colafati |
| author_sort | Mariachiara Lodi |
| collection | DOAJ |
| description | Von Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition. |
| first_indexed | 2024-03-10T10:51:12Z |
| format | Article |
| id | doaj.art-e45d94f8943e4cef8ef32b0ec552d337 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T10:51:12Z |
| publishDate | 2021-05-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-e45d94f8943e4cef8ef32b0ec552d3372023-11-21T22:14:02ZengMDPI AGDiagnostics2075-44182021-05-01116100510.3390/diagnostics11061005Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau SyndromeMariachiara Lodi0Antonio Marrazzo1Antonella Cacchione2Marina Macchiaiolo3Antonino Romanzo4Luciano Mastronardi5Francesca Diomedi-Camassei6Alessia Carboni7Andrea Carai8Carlo Gandolfo9Lidia Monti10Angela Mastronuzzi11Giovanna Stefania Colafati12Department of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyNeuroradiology Unit, Department of Imaging, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyRare Diseases and Medical Genetics Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyOphtalmology Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Surgical Specialities, Division of Neurosurgery, San Filippo Neri Hospital/ASL, 1, 00135 Roma, ItalyDepartment of Laboratories, Pathology Unit, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyNeuroradiology Unit, Department of Imaging, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyNeurosurgery Unit, Department of Neuroscience and Neurorehabilitation, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyNeuroradiology Unit, Department of Imaging, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Radiology, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyDepartment of Paediatric Haematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyNeuroradiology Unit, Department of Imaging, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, ItalyVon Hippel–Lindau (VHL) disease is a heritable cancer syndrome in which benign and malignant tumors and/or cysts develop throughout the central nervous system (CNS) and visceral organs. The disease results from mutations in the VHL tumor suppressor gene located on chromosome 3 (3p25-26). A majority of individuals (60–80%) with VHL disease will develop CNS hemangioblastomas (HMG). Endolymphatic sac tumor (ELST) is an uncommon, locally aggressive tumor located in the medial and posterior petrosal bone region. Its diagnosis is based on clinical, radiological, and pathological correlation, and it can occur in the setting of VHL in up to 10–15% of individuals. We describe a 17-year-old male who presented with a chief complaint of hearing loss. Brain and spine Magnetic Resonance Imaging documented the presence of an expansive lesion in the left cerebellar hemisphere, compatible with HMG in association with a second cerebellopontine lesion compatible with ELST. The peculiarity of the reported case is due to the simultaneous presence of two typical characteristics of VHL, which led to performing comprehensive genetic testing, thus allowing for the diagnosis of VHL. Furthermore, ELST is rare before the fourth decade of life. Early detection of these tumors plays a key role in the optimal management of this condition.https://www.mdpi.com/2075-4418/11/6/1005hemangioblastomasendolymphatic sac tumorMRIVon Hippel–Lindau syndrome |
| spellingShingle | Mariachiara Lodi Antonio Marrazzo Antonella Cacchione Marina Macchiaiolo Antonino Romanzo Luciano Mastronardi Francesca Diomedi-Camassei Alessia Carboni Andrea Carai Carlo Gandolfo Lidia Monti Angela Mastronuzzi Giovanna Stefania Colafati Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome Diagnostics hemangioblastomas endolymphatic sac tumor MRI Von Hippel–Lindau syndrome |
| title | Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome |
| title_full | Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome |
| title_fullStr | Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome |
| title_full_unstemmed | Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome |
| title_short | Synchronous Presentation of Rare Brain Tumors in Von Hippel–Lindau Syndrome |
| title_sort | synchronous presentation of rare brain tumors in von hippel lindau syndrome |
| topic | hemangioblastomas endolymphatic sac tumor MRI Von Hippel–Lindau syndrome |
| url | https://www.mdpi.com/2075-4418/11/6/1005 |
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