Please use this identifier to cite or link to this item: https://doi.org/10.1186/s13053-020-00156-9
Title: Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore
Authors: Ting, K.R.
Ong, P.Y.
Ow, S. G. W. 
Parameswaran, R.
Khoo, C.M. 
Deepak, D.S.
Lee, S.-C.
Keywords: Chinese
Genetic testing
Hereditary paraganglioma
Pheochromocytoma
SDHB
SDHD
Issue Date: 2020
Publisher: BioMed Central Ltd
Citation: Ting, K.R., Ong, P.Y., Ow, S. G. W., Parameswaran, R., Khoo, C.M., Deepak, D.S., Lee, S.-C. (2020). Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore. Hereditary Cancer in Clinical Practice 18 (1) : 24. ScholarBank@NUS Repository. https://doi.org/10.1186/s13053-020-00156-9
Rights: Attribution 4.0 International
Abstract: Background: Hereditary paraganglioma (PGL) and pheochromocytoma (PCC) syndromes are rare conditions, with limited data on spectrum of causative gene variants of these syndromes in Asian patients. Methods: We describe the clinical characteristics and genetic testing outcomes of patients with suspected hereditary PGL/PCC who were referred to a tertiary cancer genetics clinic in Singapore. Results: Among 2196 patients with suspected hereditary cancer syndrome evaluated at the cancer genetics clinic from 2000 to 2019, 13/2196 (0.6%) patients fulfilled clinical suspicion for hereditary PGL/PCC syndrome. After genetic counselling, 10 patients underwent multi-gene next generation sequencing and deletion/duplication analysis, including SDHAF2, SDHA, SDHB, SDHC, SDHD, VHL, NF1, RET, MAX, and TMEM127. Seven of 10 patients (70%) were identified to carry pathogenic variants, including 3 unrelated Chinese patients with head and neck PGL who carried the same SDHD: c.3G > C (p.Met1Ile) variant that was previously reported to be a possible founder variant in Chinese, and 3 patients with urogenital PGL and 1 patient with retroperitoneal PGL who carried different SDHB variants. Variant carriers were younger, more likely to present with multiple tumours, or have family history of paraganglioma or pheochromocytoma, than non- variant carriers. Conclusion: Hereditary PGL/PCC accounts for only 0.6% of patients seen in an adult cancer genetics clinic in Asia. SDHD and SDHB genes remain the most important causative genes of hereditary PGL/PCC in Asia even when patients are tested with multi-gene NGS panel. © 2020, The Author(s).
Source Title: Hereditary Cancer in Clinical Practice
URI: https://scholarbank.nus.edu.sg/handle/10635/196323
ISSN: 1731-2302
DOI: 10.1186/s13053-020-00156-9
Rights: Attribution 4.0 International
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