İbrahim KARNAK, Ahmet Cevdet CEYLAN, Mithat HALİLOĞLU, Alev ÖZÖN, Diclehan ORHAN, Tezer KUTLUK

Sertoli-Leydig cell tumor, thyroid follicular carcinoma and rhabdomyosarcoma of the uterine cervix in a prepubertal girl with pathogenic germline variant in DICER1 gene

Background. DICER1 syndrome is a hereditary cancer predisposition syndrome which is related DICER1 gene and may present a variety of manifestations. Case. A prepubertal girl with ovarian Sertoli-Leydig cell tumor, thyroid follicular carcinoma, embryonal rhabdomyosarcoma of the cervix and lung cyst is presented. Genetic analysis demonstrated mutation (c.3377delC, c.71delC) in 14q32.13 loci and confirmed the diagnosis of DICER1 syndrome. Conclusion. The case is presented to emphasize the importance of early diagnosis of alterations in DICER1 gene and close follow-up for the development of DICER1 syndrome related pathologies, and necessity for genetic evaluation of the family.

PDF

___

1. de Kock L, Wu MK, Foulkes WD. Ten years of DICER1 mutations: provenance, distribution, and associated phenotypes. Hum Mutat 2019; 40: 1939- 1953.

2. Schultz KAP, Williams GM, Kamihara J, et al. DICER1 and associated conditions: identification of at-risk individuals and recommended surveillance strategies. Clin Cancer Res 2018; 24: 2251-2261.

3. Durieux E, Descotes F, Mauduit C, Decaussin M, Guyetant S, Devouassoux-Shisheboran M. The cooccurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive for a DICER1 syndrome. Virchows Arch 2016; 468: 631- 636.

4. Schultz KA, Yang J, Doros L, et al. DICER1- pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions. Pathol Case Rev 2014; 19: 90- 100.

5. Abbo O, Pinnagoda K, Brouchet L, et al. Wilms tumor, pleuropulmonary blastoma, and DICER1: case report and literature review. World J Surg Oncol 2018; 16: 164.

6. Moke DJ, Thomas SM, Hiemenz MC, et al. Three synchronous malignancies in a patient with DICER1 syndrome. Eur J Cancer 2018; 93: 140-143.

7. de Kock L, Hillmer M, Wagener R, et al. Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome. Genes Chromosomes Cancer 2019; 58: 602-604.

8. Haley M, Bindal P, McAuliffe A, Vredenburgh J. A family with Sertoli-Leydig cell tumour, multinodular goiter, and DICER1 mutation. Curr Oncol 2019; 26: 183-185.

9. McClean GE, Kurian S, Walter N, Kekre A, McCluggage WG. Cervical embryonal rhabdomyosarcoma and ovarian Sertoli-Leydig cell tumor: a more than coincidental association of two rare neoplasms? J Clin Pathol 2007; 60: 326-328.

10. Dehner LP, Jarzembowski JA, Hill DA. Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. Mod Pathol 2012; 25: 602-614.

11. Sunku R, Duggal R, Patel FD, Rai B, Srinivasan R, Nijhawan R. Cervical embryonal rhabdomyosarcoma and ovarian Sertoli-Leydig cell tumor with congenital absence of unilateral ovary. J Cancer Res Ther 2015; 11: 654.

12. Faure A, Atkinson J, Bouty A, et al. DICER1 pleuropulmonary blastoma familial tumour predisposition syndrome: what the paediatric urologist needs to know? J Pediatr Urol 2016; 12: 5-10.

13. Wasserman JD, Sabbaghian N, Fahiminiya S, et al. DICER1 mutations are frequent in adolescent-onset papillary thyroid carcinoma. J Clin Endocrinol Metab 2018; 103: 2009-2015.

14. Oliver-Petit I, Bertozzi AI, Grunenwald S, et al. Multinodular goiter is a gateway for molecular testing of DICER1 syndrome. Clin Endocrinol (Oxf) 2019; 91: 669-675.

15. Bueno MT, Martinez-Rios C, la Puente Gregorio A, et al. Pediatric imaging in DICER1 syndrome. Pediatr Radiol 2017; 47: 1292-1301