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SDH-deficient renal cell carcinoma: A case report associated with a novel germline mutation
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  • Vassilis Milionis,
  • Dimitrios Goutas,
  • Dimitrios Vlachodimitropoulos,
  • Andreas C. Lazaris,
  • Iason Kyriazis,
  • E Liatsikos,
  • Nikolaos Marinakis,
  • Joanne Traeger-Synodinos,
  • Nikolaos Goutas
Vassilis Milionis
Istomedica S.A

Corresponding Author:[email protected]

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Dimitrios Goutas
First Department of Pathology, School of Medicine, The National and Kapodistrian University of Athens
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Dimitrios Vlachodimitropoulos
2. Laboratory of Forensic Medicine and Toxicology, The National and Kapodistrian University of Athens
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Andreas C. Lazaris
First Department of Pathology, School of Medicine, The National and Kapodistrian University of Athens
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Iason Kyriazis
Univ Patras
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E Liatsikos
University of Patras
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Nikolaos Marinakis
5. Laboratory of Medical Genetics, National and Kapodistrian University of Athens, St. Sophia Children's Hospital, 11527, Athens, Greece
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Joanne Traeger-Synodinos
Aghia Sofia Childrens Hosp
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Nikolaos Goutas
2. Laboratory of Forensic Medicine and Toxicology, The National and Kapodistrian University of Athens
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Abstract

Routine examination of an asymptomatic 40-year-old female patient revealed a right unilateral and unifocal renal mass. The patient underwent a partial nephrectomy, and the renal specimen was sent for histopathologic examination. Molecular testing revealed a heterozygous variant NM_003000.3:c.412G>T, p.(Asp138Tyr), in SDHB gene.

Peer review status:Published

30 Mar 2021Submitted to Clinical Case Reports
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01 Apr 2021Submission Checks Completed
01 Apr 2021Assigned to Editor
06 Apr 2021Reviewer(s) Assigned
16 May 2021Review(s) Completed, Editorial Evaluation Pending
19 May 2021Editorial Decision: Revise Minor
20 May 20211st Revision Received
21 May 2021Submission Checks Completed
21 May 2021Assigned to Editor
21 May 2021Review(s) Completed, Editorial Evaluation Pending
28 Jun 2021Editorial Decision: Accept
Oct 2021Published in Clinical Case Reports volume 9 issue 10. 10.1002/ccr3.4605