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Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome
  1. Lisa Golmard1,
  2. Lauren M Vasta2,3,
  3. Valérie Duflos4,
  4. Carole Corsini5,
  5. Catherine Dubois d'Enghien1,
  6. Mary L McMaster2,
  7. Laura A Harney6,
  8. Ann G Carr6,
  9. Alexander Ling7,
  10. Frédérique Dijoud8,
  11. Arnaud Gauthier9,
  12. Markku Miettinen10,
  13. Nicholas G Cost11,
  14. Marion Gauthier-Villars1,
  15. Daniel Orbach12,
  16. Sabine Irtan13,
  17. Stéphanie Haouy4,
  18. Kris Ann Schultz14,
  19. Dominique Stoppa-Lyonnet15,16,
  20. Isabelle Coupier5,
  21. Douglas R Stewart2,
  22. Nicolas Sirvent17
  1. 1Department of Genetics, PSL Research University, Institut Curie, Paris, France
  2. 2Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA
  3. 3National Capital Consortium, Walter Reed National Military Medical Center, Bethesda, Maryland, USA
  4. 4Department of Pediatric Oncology, University Hospital Centre Montpellier, Montpellier, France
  5. 5Department of Genetics, University Hospital Centre Montpellier, Montpellier, France
  6. 6Westat, Rockville, Maryland, USA
  7. 7NIH Clinical Center, Bethesda, Maryland, USA
  8. 8Department of Pathology, Centre de Pathologie Est, Hospices Civils de Lyon, Bron, France
  9. 9Department of Pathology, PSL Research University, Institut Curie, Paris, Île-de-France, France
  10. 10Laboratory of Pathology, Center for Cancer Research, Bethesda, Maryland, USA
  11. 11Department of Surgery, Division of Urology, Pediatric Urology and Urologic Oncology, Department of Pediatrics, Section of Hematology and Oncology, Pediatric Oncology, University of Colorado School of Medicine, Aurora, Colorado, USA
  12. 12SIREDO Oncology Center, PSL Research University, Institut Curie, Paris, Île-de-France, France
  13. 13Trousseau Hospital, Department of Pediatric Surgery, AP-HP, Paris, Île-de-France, France
  14. 14Cancer and Blood Disorders, Children's Minnesota, Minneapolis, Minnesota, USA
  15. 15Department of Genetics, INSERM U830, Institut Curie, Paris, Île-de-France, France
  16. 16Paris University, Paris, Île-de-France, France
  17. 17Pediatric Oncology and Hematology Department, University Hospital Centre Montpellier, Montpellier, France
  1. Correspondence to Dr Lisa Golmard, Department of Genetics, PSL Research University, Institut Curie, Paris 75248, France; lisa.golmard{at}curie.fr

Abstract

DICER1 syndrome is a rare paediatric autosomal dominant inherited disorder predisposing to various benign and malignant tumours. It is caused by a germline pathogenic variant in DICER1, and the second hit for tumour development is usually a missense hotspot pathogenic variant in the DICER1 ribonuclease IIIb domain. While DICER1 predisposing variants account for about 60% of ovarian Sertoli-Leydig cell tumours, no DICER1-related testicular stromal tumours have been described. Here we report the first two cases of testicular stromal tumours in children carrying a DICER1 germline pathogenic variant: a case of Sertoli cell tumour and a case of Leydig cell tumour diagnosed at 2 and 12 years of age, respectively. A somatic DICER1 hotspot pathogenic variant was detected in the Sertoli cell tumour. This report extends the spectrum of DICER1-related tumours to include testicular Sertoli cell tumour and potentially testicular Leydig cell tumour. Diagnosis of a testicular Sertoli cell tumour should prompt DICER1 genetic testing so that patients with a DICER1 germline pathogenic variant can benefit from established surveillance guidelines. DICER1 genetic evaluation may be considered for testicular Leydig cell tumour. Our findings suggest that miRNA dysregulation underlies the aetiology of some testicular stromal tumours.

  • medical oncology
  • genetic predisposition to disease
  • paediatrics

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Footnotes

  • LG and LMV contributed equally.

  • DRS and NS contributed equally.

  • Contributors LG wrote the draft of the manuscript. LMV wrote the draft of case 2 description. VD, CC, CDd’E, FD, AG, MGV, DO, SI, SH, DS-L, IC and NS collected and analysed the data for case 1. LMV, MLM, LAH, AGC, AL, MM, NGC, KAS and DRS collected and analysed the data for case 2. NS supervised case 1 description. DRS supervised case 2. All authors reviewed the manuscript and approved the final version.

  • Funding This work was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute, Bethesda, MD.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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