Alzahrani Ali S, Alswailem Meshael, Moria Yosra, Aldeheshi Ayman, Al-Hindi Hindi
Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Department of Molecular Oncology, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Endocrine. 2020 Dec;70(3):644-650. doi: 10.1007/s12020-020-02461-8. Epub 2020 Aug 17.
SDHB p.R90X germline mutation is the most common genetic alteration in our patients with familial or apparently sporadic pheochromocytoma/paraganglioma (PPGL).
To 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.
We reviewed the clinical and pathological characteristics and analyzed the phenotypic variability of all 13 patients that have SDHB p.R90X mutation-associated PPGL.
Thirteen 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 radiotherapy, multikinase inhibitors, and external irradiation. Only five patients (38.5%) were in remission at a follow-up duration of 4-9 years. The other patients either died due to their disease progression (four patients, 30.8%) or continue to have progressive disease (two patients, 15.4%) or recurrence (one patient, 7.7%). Patients with distant metastasis were older, had larger primary tumors, were more likely to have a family history of PPGL and had a worse outcome.
SDHB p.R90X mutation-associated PPGL have significant phenotypic variability and are associated with a high risk of distant metastasis and mortality.
SDHB p.R90X胚系突变是我们家族性或明显散发性嗜铬细胞瘤/副神经节瘤（PPGL）患者中最常见的基因改变。
分析SDHB p.R90X相关PPGL患者的临床和病理特征、治疗反应及预后，并描述携带该突变患者的临床表型变异性。
我们回顾了所有13例携带SDHB p.R90X突变相关PPGL患者的临床和病理特征，并分析其表型变异性。
13例患者（5例女性，8例男性）。诊断时的中位年龄为23岁（范围8 - 43岁）。尽管突变相同，但患者之间甚至同一家庭内的患者表型变异性都很大。4例患者（30.8%）有PPGL家族史，6例患者（46%）有远处转移。11例患者（84.6%）进行了原发肿瘤手术。2例患者的PPGL无法手术切除。发生转移的患者接受了化疗、Lu放疗、多激酶抑制剂和外照射的不同组合。在4至9年的随访期内，只有5例患者（38.5%）病情缓解。其他患者要么因疾病进展死亡（4例患者，30.8%），要么继续有疾病进展（2例患者，15.4%）或复发（1例患者，7.7%）。有远处转移的患者年龄较大，原发肿瘤较大，更可能有PPGL家族史，预后较差。
SDHB p.R90X突变相关PPGL具有显著的表型变异性，且与远处转移和死亡的高风险相关。
