ArticleEndocrine2020
One genotype, many phenotypes: SDHB p.R90X mutation-associated paragangliomas.
Article in Endocrine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
3 citing papers in PubMed.
- Article
- Article
- Patient Sex and Origin Influence Distribution of Driver Genes and Clinical Presentation of Paraganglioma.Journal of the Endocrine Society · 2024Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextSDHB p.R90X germline mutation is the most common genetic alteration in our patients with familial or apparently sporadic pheochromocytoma/paraganglioma (PPGL).
objectiveTo analyze the clinical and pathological characteristics, response to therapy, and outcome of patients with SDHB p.R90X-associated PPGL and describe the clinical phenotypic variability in the patients carrying this mutation.
methodsWe reviewed the clinical and pathological characteristics and analyzed the phenotypic variability of all 13 patients that have SDHB p.R90X mutation-associated PPGL.
resultsThirteen patients (five females and eight males). The median age at diagnosis was 23 years (range 8-43). Although the mutation was the same, there was significant phenotypic variability between patients and even within the same family. Four patients (30.8%) had a family history of PPGL and six patients (46%) had distant metastasis. Surgery of the primary tumor was performed in 11 patients (84.6%). Two patients had inoperable PPGL. Patients with metastasis received different combinations of chemotherapy, Lu
conclusionSDHB p.R90X mutation-associated PPGL have significant phenotypic variability and are associated with a high risk of distant metastasis and mortality.
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