Abstract：
UNASSIGNED: Temporal bone paragangliomas are rare tumours with variable presentation that can be hereditary. Identification of clinical and genetic factors of aggressive tumour behaviour is important.
UNASSIGNED: To determine the underlying genetic mutations and genotype/phenotype correlations in a multi-ethnic population of South Florida with sporadic temporal bone paragangliomas.
UNASSIGNED: In a cohort of glomus tympanicum (GT) and glomus jugulare (GJ) cases, we assessed the frequency of pathogenic single nucleotide variants, insertions, deletions, and duplications in coding exons of genes that have been associated with paragangliomas (SDHB, SDHC, SDHD, SDHA, SDHAF2, RET, NF1, VHL, TMEM127, and MAX).
UNASSIGNED: None of the 12 GT cases had mutations. Among 13 GJ cases, we identified four mutation carriers (31%); two in SDHC, one in SDHB, and one in SDHD. All patients with pathogenic mutations were of Hispanic ethnicity, presented at a younger age (mean 27.5 versus 52.11 years), and with more advanced disease when compared to mutation-negative GJ cases.Conclusions and Significance: Mutations in the SDH genes are found in 31% of sporadic GJ. SDH-associated GJ had advanced disease and a 50% risk of metastasis. Our data supports emerging recommendations for genetic screening in all populations with GJ tumours as the genetic status informs management.
UNASSIGNED: To determine the underlying genetic mutations and genotype/phenotype correlations in a multi-ethnic population of South Florida with sporadic temporal bone paragangliomas.
UNASSIGNED: In a cohort of glomus tympanicum (GT) and glomus jugulare (GJ) cases, we assessed the frequency of pathogenic single nucleotide variants, insertions, deletions, and duplications in coding exons of genes that have been associated with paragangliomas (SDHB, SDHC, SDHD, SDHA, SDHAF2, RET, NF1, VHL, TMEM127, and MAX).
UNASSIGNED: None of the 12 GT cases had mutations. Among 13 GJ cases, we identified four mutation carriers (31%); two in SDHC, one in SDHB, and one in SDHD. All patients with pathogenic mutations were of Hispanic ethnicity, presented at a younger age (mean 27.5 versus 52.11 years), and with more advanced disease when compared to mutation-negative GJ cases.Conclusions and Significance: Mutations in the SDH genes are found in 31% of sporadic GJ. SDH-associated GJ had advanced disease and a 50% risk of metastasis. Our data supports emerging recommendations for genetic screening in all populations with GJ tumours as the genetic status informs management.
摘要：
■颞骨副神经节瘤是罕见的肿瘤，表现可变，可能是遗传性的。确定侵袭性肿瘤行为的临床和遗传因素很重要。
■为了确定南佛罗里达州多种族人群中潜在的基因突变和基因型/表型相关性，这些人群患有散发性颞骨副神经节瘤。
■在一组鼓室球（GT）和颈静脉球（GJ）病例中，我们评估了致病性单核苷酸变异的频率，插入,删除,以及与副神经节瘤（SDHB，SDHC,SDHD,SDHA,SDHAF2,RET,NF1,VHL,TMEM127和MAX)。
■12例GT病例均无突变。在13例GJ病例中，我们确定了四个突变携带者(31%)；两个在SDHC中，一个在SDHB，和一个SDHD。所有致病突变的患者都是西班牙裔，年龄较小(平均27.5岁对52.11岁)，与突变阴性GJ病例相比，疾病更晚期。结论和意义：在31％的散发性GJ中发现了SDH基因的突变。SDH相关的GJ具有晚期疾病和50%的转移风险。我们的数据支持在所有GJ肿瘤人群中进行遗传筛查的新建议，因为遗传状态为管理提供了信息。
■为了确定南佛罗里达州多种族人群中潜在的基因突变和基因型/表型相关性，这些人群患有散发性颞骨副神经节瘤。
■在一组鼓室球（GT）和颈静脉球（GJ）病例中，我们评估了致病性单核苷酸变异的频率，插入,删除,以及与副神经节瘤（SDHB，SDHC,SDHD,SDHA,SDHAF2,RET,NF1,VHL,TMEM127和MAX)。
■12例GT病例均无突变。在13例GJ病例中，我们确定了四个突变携带者(31%)；两个在SDHC中，一个在SDHB，和一个SDHD。所有致病突变的患者都是西班牙裔，年龄较小(平均27.5岁对52.11岁)，与突变阴性GJ病例相比，疾病更晚期。结论和意义：在31％的散发性GJ中发现了SDH基因的突变。SDH相关的GJ具有晚期疾病和50%的转移风险。我们的数据支持在所有GJ肿瘤人群中进行遗传筛查的新建议，因为遗传状态为管理提供了信息。
