Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma
The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype–phenotype correlation. We examined 370...
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| Veröffentlicht in: | Cancers 2021-08, Vol.13 (16), p.4014 |
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| creator | Yonamine, Masato Wasano, Koichiro Aita, Yuichi Sugasawa, Takehito Takahashi, Katsutoshi Kawakami, Yasushi Shimano, Hitoshi Nishiyama, Hiroyuki Hara, Hisato Naruse, Mitsuhide Okamoto, Takahiro Matsuda, Tadashi Kosugi, Shinji Horiguchi, Kazuhiko Tanabe, Akiyo Watanabe, Atsushi Kimura, Noriko Nakamura, Eijiro Sakurai, Akihiro Shiga, Kiyoto Takekoshi, Kazuhiro |
| description | The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype–phenotype correlation. We examined 370 PPGL probands, including 43 patients with family history and/or syndromic presentation and 327 patients with apparently sporadic (AS) presentation. Clinical data and blood samples were collected, and the seven major susceptibility genes (MAX, SDHB, SDHC, SDHD, TMEM127, VHL, and RET) were tested using Sanger sequencing. Overall, 120/370 (32.4%) patients had pathogenic or likely pathogenic variants, with 81/327 (24.8%) in AS presentation. SDHB was the most frequently mutated gene (57, 15.4%), followed by SDHD (27, 7.3%), and VHL (18, 4.9%). The incidence of metastatic PPGL was high in SDHB carriers (21/57, 36.8%). A few unique recurrent variants (SDHB c.137G>A and SDHB c.470delT) were detected in this Japanese cohort, highlighting ethnic differences. In summary, almost a quarter of patients with apparently sporadic PPGL in Japan harboured germline variants of the targeted genes. This study reinforces the recommendation in Western guidelines to perform genetic testing for PPGL and genotype-based clinical decision-making in the Japanese population. |
| doi_str_mv | 10.3390/cancers13164014 |
| format | Article |
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We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype–phenotype correlation. We examined 370 PPGL probands, including 43 patients with family history and/or syndromic presentation and 327 patients with apparently sporadic (AS) presentation. Clinical data and blood samples were collected, and the seven major susceptibility genes (MAX, SDHB, SDHC, SDHD, TMEM127, VHL, and RET) were tested using Sanger sequencing. Overall, 120/370 (32.4%) patients had pathogenic or likely pathogenic variants, with 81/327 (24.8%) in AS presentation. SDHB was the most frequently mutated gene (57, 15.4%), followed by SDHD (27, 7.3%), and VHL (18, 4.9%). The incidence of metastatic PPGL was high in SDHB carriers (21/57, 36.8%). A few unique recurrent variants (SDHB c.137G>A and SDHB c.470delT) were detected in this Japanese cohort, highlighting ethnic differences. In summary, almost a quarter of patients with apparently sporadic PPGL in Japan harboured germline variants of the targeted genes. This study reinforces the recommendation in Western guidelines to perform genetic testing for PPGL and genotype-based clinical decision-making in the Japanese population.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers13164014</identifier><identifier>PMID: 34439168</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Age ; Catecholamines ; Decision making ; Genes ; Genetic screening ; Genotype & phenotype ; Genotypes ; Metastases ; Metastasis ; Paraganglioma ; Patients ; Phenotypes ; Pheochromocytoma ; Population studies ; Tumors ; VHL protein</subject><ispartof>Cancers, 2021-08, Vol.13 (16), p.4014</ispartof><rights>2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). 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This study reinforces the recommendation in Western guidelines to perform genetic testing for PPGL and genotype-based clinical decision-making in the Japanese population.</description><subject>Age</subject><subject>Catecholamines</subject><subject>Decision making</subject><subject>Genes</subject><subject>Genetic screening</subject><subject>Genotype & phenotype</subject><subject>Genotypes</subject><subject>Metastases</subject><subject>Metastasis</subject><subject>Paraganglioma</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Pheochromocytoma</subject><subject>Population studies</subject><subject>Tumors</subject><subject>VHL 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a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma</atitle><jtitle>Cancers</jtitle><date>2021-08-09</date><risdate>2021</risdate><volume>13</volume><issue>16</issue><spage>4014</spage><pages>4014-</pages><issn>2072-6694</issn><eissn>2072-6694</eissn><abstract>The high incidence of germline variants in pheochromocytoma and paraganglioma (PPGL) has been reported mainly in Europe, but not among Japanese populations in Asia. We aimed to study the prevalence of germline variants in Japanese PPGL patients and the genotype–phenotype correlation. We examined 370 PPGL probands, including 43 patients with family history and/or syndromic presentation and 327 patients with apparently sporadic (AS) presentation. Clinical data and blood samples were collected, and the seven major susceptibility genes (MAX, SDHB, SDHC, SDHD, TMEM127, VHL, and RET) were tested using Sanger sequencing. Overall, 120/370 (32.4%) patients had pathogenic or likely pathogenic variants, with 81/327 (24.8%) in AS presentation. SDHB was the most frequently mutated gene (57, 15.4%), followed by SDHD (27, 7.3%), and VHL (18, 4.9%). The incidence of metastatic PPGL was high in SDHB carriers (21/57, 36.8%). A few unique recurrent variants (SDHB c.137G>A and SDHB c.470delT) were detected in this Japanese cohort, highlighting ethnic differences. 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| source | PubMed Central Open Access; MDPI - Multidisciplinary Digital Publishing Institute; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Age Catecholamines Decision making Genes Genetic screening Genotype & phenotype Genotypes Metastases Metastasis Paraganglioma Patients Phenotypes Pheochromocytoma Population studies Tumors VHL protein |
| title | Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma |
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