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Case Report Open Access

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
  • View Affiliations / Copyright

    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
    Copyright: © Dai et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 351
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    Published online on: June 3, 2024
       https://doi.org/10.3892/ol.2024.14485
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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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View References

1 

Gill AJ: Succinate dehydrogenase (SDH)-deficient neoplasia. Histopathology. 72:106–116. 2018. View Article : Google Scholar : PubMed/NCBI

2 

Bray F, Ferlay J, Soerjomataram I, Siegel RL, Torre LA and Jemal A: Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 68:394–424. 2018. View Article : Google Scholar : PubMed/NCBI

3 

Gill AJ, Hes O, Papathomas T, Šedivcová M, Tan PH, Agaimy A, Andresen PA, Kedziora A, Clarkson A, Toon CW, et al: Succinate dehydrogenase (SDH)-deficient renal carcinoma: A morphologically distinct entity: A clinicopathologic series of 36 tumors from 27 patients. Am J Surg Pathol. 38:1588–1602. 2014. View Article : Google Scholar : PubMed/NCBI

4 

Vanharanta S, Buchta M, McWhinney SR, Virta SK, Peçzkowska M, Morrison CD, Lehtonen R, Januszewicz A, Järvinen H, Juhola M, et al: Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Am J Hum Genet. 74:153–159. 2004. View Article : Google Scholar : PubMed/NCBI

5 

Moch H, Cubilla AL, Humphrey PA, Reuter VE and Ulbright TM: The 2016 WHO classification of tumours of the urinary system and male genital organs-Part A: Renal, Penile, and testicular tumours. Eur Urol. 70:93–105. 2016. View Article : Google Scholar : PubMed/NCBI

6 

Gill AJ: Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia. Pathology. 44:285–292. 2012. View Article : Google Scholar : PubMed/NCBI

7 

Barletta JA and Hornick JL: Succinate dehydrogenase-deficient tumors: Diagnostic advances and clinical implications. Adv Anat Pathol. 19:193–203. 2012. View Article : Google Scholar : PubMed/NCBI

8 

Rizza S, Montagna C, Cardaci S, Maiani E, Di Giacomo G, Sanchez-Quiles V, Blagoev B, Rasola A, De Zio D, Stamler JS, et al: S-nitrosylation of the mitochondrial chaperone TRAP1 sensitizes hepatocellular carcinoma cells to inhibitors of succinate dehydrogenase. Cancer Res. 76:4170–4182. 2016. View Article : Google Scholar : PubMed/NCBI

9 

Eng C, Kiuru M, Fernandez MJ and Aaltonen LA: A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer. 3:193–202. 2003. View Article : Google Scholar : PubMed/NCBI

10 

Gottlieb E and Tomlinson IP: Mitochondrial tumour suppressors: A genetic and biochemical update. Nat Rev Cancer. 5:857–866. 2005. View Article : Google Scholar : PubMed/NCBI

11 

Williamson SR, Eble JN, Amin MB, Gupta NS, Smith SC, Sholl LM, Montironi R, Hirsch MS and Hornick JL: Succinate dehydrogenase-deficient renal cell carcinoma: Detailed characterization of 11 tumors defining a unique subtype of renal cell carcinoma. Mod Pathol. 28:80–94. 2015. View Article : Google Scholar : PubMed/NCBI

12 

Kuroda N, Yorita K, Nagasaki M, Harada Y, Ohe C, Jeruc J, Raspollini MR, Michal M, Hes O and Amin MB: Review of succinate dehydrogenase-deficient renal cell carcinoma with focus on clinical and pathobiological aspects. Pol J Pathol. 67:3–7. 2016. View Article : Google Scholar : PubMed/NCBI

13 

Tsai TH and Lee WY: Succinate dehydrogenase-deficient renal cell carcinoma. Arch Pathol Lab Med. 143:643–647. 2019. View Article : Google Scholar : PubMed/NCBI

14 

Eijkelenkamp K, Osinga TE, Links TP and van der Horst-Schrivers ANA: Clinical implications of the oncometabolite succinate in SDHx-mutation carriers. Clin Genet. 97:39–53. 2020. View Article : Google Scholar : PubMed/NCBI

15 

Wang G and Rao P: Succinate dehydrogenase-deficient renal cell carcinoma: A short review. Arch Pathol Lab Med. 142:1284–1288. 2018. View Article : Google Scholar : PubMed/NCBI

16 

Agha RA, Franchi T, Sohrabi C, Mathew G and Kerwan A; SCARE Group, : The SCARE 2020 guideline: Updating consensus surgical CAse REport (SCARE) guidelines. Int J Surg. 84:226–230. 2020. View Article : Google Scholar : PubMed/NCBI

17 

Kamai T, Higashi S, Murakami S, Arai K, Namatame T, Kijima T, Abe H, Jamiyan T, Ishida K, Shirataki H and Yoshida KI: Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma. Cancer Sci. 112:3375–3387. 2021. View Article : Google Scholar : PubMed/NCBI

18 

Ooi A: Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research. Semin Cancer Biol. 61:158–166. 2020. View Article : Google Scholar : PubMed/NCBI

19 

Merino MJ, Torres-Cabala C, Pinto P and Linehan WM: The morphologic spectrum of kidney tumors in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Am J Surg Pathol. 31:1578–1585. 2007. View Article : Google Scholar : PubMed/NCBI

20 

Chen YB, Brannon AR, Toubaji A, Dudas ME, Won HH, Al-Ahmadie HA, Fine SW, Gopalan A, Frizzell N, Voss MH, et al: Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cancer: Recognition of the syndrome by pathologic features and the utility of detecting aberrant succination by immunohistochemistry. Am J Surg Pathol. 38:627–637. 2014. View Article : Google Scholar : PubMed/NCBI

21 

McEvoy CR, Koe L, Choong DY, Leong HS, Xu H, Karikios D, Plew JD, Prall OW, Fellowes AP and Fox SB: SDH-deficient renal cell carcinoma associated with biallelic mutation in succinate dehydrogenase A: Comprehensive genetic profiling and its relation to therapy response. NPJ Precis Oncol. 2:92018. View Article : Google Scholar : PubMed/NCBI

22 

Yakirevich E, Ali SM, Mega A, McMahon C, Brodsky AS, Ross JS, Allen J, Elvin JA, Safran H and Resnick MB: A novel SDHA-deficient renal cell carcinoma revealed by comprehensive genomic profiling. Am J Surg Pathol. 39:858–863. 2015. View Article : Google Scholar : PubMed/NCBI

23 

Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, et al: Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD. J Med Genet. 55:384–394. 2018. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Dai Z, Wang X, Zhang Y, Qiu Y and Liu J: A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report. Oncol Lett 28: 351, 2024.
APA
Dai, Z., Wang, X., Zhang, Y., Qiu, Y., & Liu, J. (2024). A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report. Oncology Letters, 28, 351. https://doi.org/10.3892/ol.2024.14485
MLA
Dai, Z., Wang, X., Zhang, Y., Qiu, Y., Liu, J."A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report". Oncology Letters 28.2 (2024): 351.
Chicago
Dai, Z., Wang, X., Zhang, Y., Qiu, Y., Liu, J."A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report". Oncology Letters 28, no. 2 (2024): 351. https://doi.org/10.3892/ol.2024.14485
Copy and paste a formatted citation
x
Spandidos Publications style
Dai Z, Wang X, Zhang Y, Qiu Y and Liu J: A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report. Oncol Lett 28: 351, 2024.
APA
Dai, Z., Wang, X., Zhang, Y., Qiu, Y., & Liu, J. (2024). A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report. Oncology Letters, 28, 351. https://doi.org/10.3892/ol.2024.14485
MLA
Dai, Z., Wang, X., Zhang, Y., Qiu, Y., Liu, J."A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report". Oncology Letters 28.2 (2024): 351.
Chicago
Dai, Z., Wang, X., Zhang, Y., Qiu, Y., Liu, J."A highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report". Oncology Letters 28, no. 2 (2024): 351. https://doi.org/10.3892/ol.2024.14485
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