A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report

Dai,Zhicheng; Wang,Xiaohui; Zhang,Yinghao; Qiu,Ying; Liu,Jie

doi:10.3892/ol.2024.14485

A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report

Authors:
- Zhicheng Dai
- Xiaohui Wang
- Yinghao Zhang
- Ying Qiu
- Jie Liu
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Affiliations: Department of Clinical Medicine, Weifang Medical University, Weifang, Shandong 261053, P.R. China, Department of Nursing, Weifang Medical University, Weifang, Shandong 261053, P.R. China, Department of Pathology, Linyi People's Hospital, Linyi, Shandong 276000, P.R. China, Department of Urology, Linyi People's Hospital, Linyi, Shandong 276000, P.R. China
Published online on: June 3, 2024 https://doi.org/10.3892/ol.2024.14485
Article Number: 351
Copyright: © Dai et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Succinate dehydrogenase (SDH)‑deficient renal cell carcinoma (RCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants of the SDH gene. SDH mutations are associated with an increased risk of developing RCC, although studies describing SDH‑deficient RCC are currently limited. The present study reported a case of SDH‑deficient RCC with high malignancy and rare bone metastasis. The patient was diagnosed with a right renal mass through B‑mode ultrasound imaging and showed a carcinoma embolus in the right renal vein and inferior vena cava through kidney contrast‑enhanced computed tomography. A whole‑body bone scan showed radionuclide accumulation in the upper end of the left humerus, which indicated possible pathological bone destruction. As a result, surgical resection was performed. The postoperative pathology indicated a high‑grade RCC and although the specific classification remained uncertain, hereditary leiomyomatosis and RCC was suspected. Subsequently, a germline mutation of the succinate dehydrogenase complex flavoprotein subunit A gene was identified through high‑throughput sequencing (c.1A>G, p. Met1?) and immunohistochemistry demonstrated the loss of succinate dehydrogenase complex flavoprotein subunit B expression. Postoperatively, the patient underwent radiotherapy and targeted therapy. After 6 months of follow‑up treatment, there was no indication of recurrence or metastasis on thoracoabdominal CT and whole‑body bone scintigraphy. Based on the present report, germline screening should potentially be encouraged in early‑onset patients as family history or pathological results may not provide sufficient information for the early, differential diagnosis of SDH‑deficient RCC.

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