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Titel: Pseudohypoxic pheochromocytomas and paragangliomas dominate in children
Autor(en): Redlich, Antje KarenIn der Gemeinsamen Normdatei der DNB nachschlagen
Pamporaki, Christina
Lessel, Lienhard
Frühwald, MichaelIn der Gemeinsamen Normdatei der DNB nachschlagen
Vorwerk, PeterIn der Gemeinsamen Normdatei der DNB nachschlagen
Kuhlen, MichaelaIn der Gemeinsamen Normdatei der DNB nachschlagen
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(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)

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