VHL-Related Neuroendocrine Neoplasms And Beyond: An Israeli Specialized Center Real-Life Report
| Autor: | David J Gross, Alexander Lossos, Simona Grozinsky-Glasberg, Abed Khalaileh, Liat Appelbaum, Naama Lev-Cohain, Jacob Pe’er, Auryan Szalat, Haggi Mazeh, Kira Oleinikov, Karine Atlan, Simona Ben-Haim, Vardiella Meiner, Yigal Shoshan, Avital Nahmias, Moshe Gomori |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty von Hippel-Lindau Disease Endocrinology Diabetes and Metabolism Adrenal Gland Neoplasms Complex disease 030209 endocrinology & metabolism Neuroendocrine tumors Pheochromocytoma 03 medical and health sciences 0302 clinical medicine Endocrinology Paraganglioma medicine Humans 030212 general & internal medicine Child Retrospective Studies business.industry Retrospective cohort study General Medicine medicine.disease Pancreatic Neoplasms Palliative Therapy Neuroendocrine Tumors Von Hippel-Lindau Tumor Suppressor Protein Child Preschool Neoplasm Recurrence Local Chondrosarcoma business Asymptomatic carrier |
| Zdroj: | Endocrine Practice. 26:1131-1142 |
| ISSN: | 1530-891X |
| DOI: | 10.4158/ep-2020-0220 |
| Popis: | Objective Von Hippel-Lindau (VHL) syndrome is a rare and complex disease. We described in 1996 a three generation VHL 2A kindred with 11 mutation carriers. We aim to share our experience regarding the long-term follow-up of this family and the management of all our other VHL patients focusing on frequently encountered neuroendocrine tumors: pheochromocytoma/paraganglioma and pancreatic neuroendocrine neoplasms (PNEN). Methods All VHL patients in follow-up at our tertiary center from 1980 to 2019 were identified. Clinical, laboratory, imaging and therapeutic characteristics were retrospectively analyzed. Results We identified 32 VHL patients in 16 different families, 7/16 were classified as VHL 2 subtype. In the previously described family, the 4 initially asymptomatic carriers developed a neuroendocrine tumor; 7 new children were born, 3 of them being mutation carriers; 2 patients died, one due to metastatic PNEN-related liver failure. Pheochromocytoma was frequent (22/32), bilateral (13/22;59%), often diagnosed in early childhood when active screening was timely performed, associated with paraganglioma in 5/22, rarely malignant (1/22) and recurred after surgery in some cases after more than 20 years. PNEN occurred in 8/32 patients (25%), and was metastatic in three. Surgery and palliative therapy allowed relatively satisfactory outcomes. Severe disabling morbidities due to central-nervous system and ophthalmologic hemangiomas, and other rare tumors as chondrosarcoma in 2 patients and polycythemia in 1 patient were observed. Conclusions Multidisciplinary approach and long-term follow-up is mandatory in VHL patients to manage the multiple debilitating morbidities and delay mortality in these complex patients. |
| Databáze: | OpenAIRE |
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