Novel Germline <i>PHD2</i> Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia

Novel Germline <i>PHD2</i> Variant in a Metastatic Pheochromocytoma and Chronic Myeloid Leukemia, but in the Absence of Polycythemia

Background: Pheochromocytoma (Pheo) and paraganglioma (PGL) are rare tumors, mostly resulting from pathogenic variants of predisposing genes, with a genetic contribution that now stands at around 70%. Germline variants account for approximately 40%, while the remaining 30% is attributable to somatic...

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Main Authors: Aldesia Provenzano, Massimiliano Chetta, Giuseppina De Filpo, Giulia Cantini, Andrea La Barbera, Gabriella Nesi, Raffaella Santi, Serena Martinelli, Elena Rapizzi, Michaela Luconi, Mario Maggi, Massimo Mannelli, Tonino Ercolino, Letizia Canu
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Medicina
Subjects:
germline variants
<i>PHD2</i> gene
metastatic pheochromocytoma
radiometabolic therapy
PPRT
chronic myeloid leukemia
Online Access:https://www.mdpi.com/1648-9144/58/8/1113

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