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http://dx.doi.org/10.25673/96510
Titel: | Pseudohypoxic pheochromocytomas and paragangliomas dominate in children |
Autor(en): | Redlich, Antje Karen Pamporaki, Christina Lessel, Lienhard Frühwald, Michael Vorwerk, Peter Kuhlen, Michaela |
Erscheinungsdatum: | 2021 |
Art: | Artikel |
Sprache: | Englisch |
URN: | urn:nbn:de:gbv:ma9:1-1981185920-984679 |
Schlagwörter: | Children Germline mutations Paraganglioma Pheochromocytoma Pseudohypoxi |
Zusammenfassung: | Objective: Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors that are associated with cancer predisposition syndromes in up to 80% of affected children. PPGLs can be divided into molecularly defined groups with comparable pathogenesis and biology: (1) pseudohypoxic, (2) kinase signaling, and (3) Wntaltered. Methods: We report the data of children and adolescents diagnosed with PPGL who have been registered with the German GPOH-MET registry since 1997. Results: By December 2019, a total of 88 patients with PPGL were reported. Pheochromocytoma occurred in 56%, paraganglioma in 35%, and synchronous PPGLs in 9.1%.Atotal of16%of patients presentedwith lymphnode (5.7%) and distant metastases (10%). Median follow-up was 4.2 years (range 0–17.1). Overall and disease-free survival (DFS) were 98.6% and 54.0%, respectively. Local relapses, metastases, and subsequent PPGLs occurred in 11%, 4.5%, and 15% of patients. Germline mutations were detected in 83% of patients (51% in VHL, 21% in SDHB, 7.8% in SDHD, and one patient each in RET and NF1). One patient was diagnosed with Pacak–Zhuang syndrome. Atotal of 96% of patients presentedwith PPGL of the pseudohypoxic subgroup (34% TCA cycle-related, 66% VHL/EPAS1-related). In multivariate analyses, extent of tumor resection was a significant prognostic factor for DFS. Conclusions: Most pediatric PPGLs belong to the pseudohypoxia subgroup, which is associated with a high risk of subsequent PPGL events and metastatic disease. Comprehensive molecular profiling of children and adolescents with newly diagnosed PPGLs will open new avenues for personalized diagnosis, treatment, and surveillance. |
URI: | https://opendata.uni-halle.de//handle/1981185920/98467 http://dx.doi.org/10.25673/96510 |
Open-Access: | Open-Access-Publikation |
Nutzungslizenz: | (CC BY-NC-ND 4.0) Creative Commons Namensnennung - Nicht kommerziell - Keine Bearbeitungen 4.0 International |
Sponsor/Geldgeber: | Projekt DEAL 2021 |
Journal Titel: | Pediatric blood & cancer |
Verlag: | Wiley |
Verlagsort: | New York, NY |
Band: | 68 |
Heft: | 7 |
Originalveröffentlichung: | 10.1002/pbc.28981 |
Seitenanfang: | 1 |
Seitenende: | 10 |
Enthalten in den Sammlungen: | Medizinische Fakultät (OA) |
Dateien zu dieser Ressource:
Datei | Beschreibung | Größe | Format | |
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Redlich et al._Pseudohypoxic pheochromocytomas_2021.pdf | Zweitveröffentlichung | 911.47 kB | Adobe PDF | Öffnen/Anzeigen |