125
Views
1
CrossRef citations to date
0
Altmetric
Case Report

Ovarian Sertoli-Leydig Cell Tumor, Multinodular Goiter, Cystic Nephromas and DICER1 Mutations: Case Report and Literature Review

, , , , , , , & show all
Pages 947-953 | Published online: 03 Aug 2021

References

  • Witkowski L, Mattina J, Schönberger S, et al. DICER1 hotspot mutations in non-epithelial gonadal tumours. Br J Cancer. 2013;109(10):2744–2750. doi:10.1038/bjc.2013.637
  • Bahubeshi A, Tischkowitz M, Foulkes WD. miRNA processing and human cancer: DICER1 cuts the mustard. Sci Transl Med. 2011;3(111):111ps146. doi:10.1126/scitranslmed.3002493
  • Rossing M, Gerdes AM, Juul A, et al. A novel DICER1 mutation identified in a female with ovarian Sertoli-Leydig cell tumor and multinodular goiter: a case report. J Med Case Rep. 2014;8:112. doi:10.1186/1752-1947-8-112
  • 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(10):2251–2261. doi:10.1158/1078-0432.CCR-17-3089
  • Lantzsch T, Stoerer S, Lawrenz K, Buchmann J, Strauss HG, Koelbl H. Sertoli-Leydig cell tumor. Arch Gynecol Obstet. 2001;264(4):206–208. doi:10.1007/s004040000114
  • de Kock L, Terzic T, McCluggage WG, et al. DICER1 mutations are consistently present in moderately and poorly differentiated Sertoli-Leydig cell tumors. Am J Surg Pathol. 2017;41(9):1178–1187. doi:10.1097/PAS.0000000000000895
  • Apellaniz-Ruiz M, de Kock L, Sabbaghian N, et al. Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion. Eur J Endocrinol. 2018;178(2):K11–k19. doi:10.1530/EJE-17-0904
  • Rio Frio T, Bahubeshi A, Kanellopoulou C, et al. DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. JAMA. 2011;305(1):68–77. doi:10.1001/jama.2010.1910
  • Haley M, Bindal P, McAuliffe A, Vredenburgh J. A family with Sertoli-Leydig cell tumour, multinodular goiter, and DICER1 mutation. Curr Oncol. 2019;26(3):183–185. doi:10.3747/co.26.4727
  • Kurian JJ, Sen S, Joseph RT, Bindra MS. A rare case of bilateral cystic nephroma associated with embryonal rhabdomyosarcoma of the penile urethra. J Indian Assoc Pediatr Surg. 2015;20(2):82–83. doi:10.4103/0971-9261.151553
  • Stamatiou K, Polizois K, Kollaitis G, et al. Cystic nephroma: a case report and review of the literature. Cases J. 2008;1(1):267. doi:10.1186/1757-1626-1-267
  • Bahubeshi A, Bal N, Rio Frio T, et al. Germline DICER1 mutations and familial cystic nephroma. J Med Genet. 2010;47(12):863–866. doi:10.1136/jmg.2010.081216
  • Heravi-Moussavi A, Anglesio MS, Cheng SW, et al. Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. N Engl J Med. 2012;366(3):234–242.
  • Doros LA, Rossi CT, Yang J, et al. DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma. Mod Pathol. 2014;27(9):1267–1280. doi:10.1038/modpathol.2013.242
  • Apellaniz-Ruiz M, Segni M, Kettwig M, et al. Mesenchymal hamartoma of the liver and DICER1 syndrome. N Engl J Med. 2019;380(19):1834–1842. doi:10.1056/NEJMoa1812169
  • Anglesio MS, Wang Y, Yang W, et al. Cancer-associated somatic DICER1 hotspot mutations cause defective miRNA processing and reverse-strand expression bias to predominantly mature 3p strands through loss of 5p strand cleavage. J Pathol. 2013;229(3):400–409. doi:10.1002/path.4135
  • Wang Y, Chen J, Yang W, et al. The oncogenic roles of DICER1 RNase IIIb domain mutations in ovarian Sertoli-Leydig cell tumors. Neoplasia. 2015;17(8):650–660. doi:10.1016/j.neo.2015.08.003
  • Jensen RD, Norris HJ, Fraumeni JF Jr. Familial arrhenoblastoma and thyroid adenoma. Cancer. 1974;33(1):218–223. doi:10.1002/1097-0142(197401)33:1<218::AID-CNCR2820330132>3.0.CO;2-Z
  • O’Brien PK, Wilansky DL. Familial thyroid nodulation and arrhenoblastoma. Am J Clin Pathol. 1981;75(4):578–581. doi:10.1093/ajcp/75.4.578
  • Young RH, Scully RE. Ovarian Sertoli-Leydig cell tumors. A clinicopathological analysis of 207 cases. Am J Surg Pathol. 1985;9(8):543–569. doi:10.1097/00000478-198508000-00001
  • Niedziela M. Virilizing ovarian tumor in a 14-year-old female with a prior familial multinodular goiter. Pediatr Blood Cancer. 2008;51(4):543–545. doi:10.1002/pbc.21675
  • Slade I, Bacchelli C, Davies H, et al. DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet. 2011;48(4):273–278. doi:10.1136/jmg.2010.083790
  • Foulkes WD, Bahubeshi A, Hamel N, et al. Extending the phenotypes associated with DICER1 mutations. Hum Mutat. 2011;32(12):1381–1384. doi:10.1002/humu.21600
  • Ramasubramanian A, Correa ZM, Augsburger JJ, Sisk RA, Plager DA. Medulloepithelioma in DICER1 syndrome treated with resection. Eye. 2013;27(7):896–897. doi:10.1038/eye.2013.87
  • Darrat I, Bedoyan JK, Chen M, Schuette JL, Lesperance MM. Novel DICER1 mutation as cause of multinodular goiter in children. Head Neck. 2013;35(12):E369–371. doi:10.1002/hed.23250
  • 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(2):90–100. doi:10.1097/PCR.0000000000000027
  • Wu Y, Chen D, Li Y, Bian L, Ma T, Xie M. DICER1 mutations in a patient with an ovarian Sertoli-Leydig tumor, well-differentiated fetal adenocarcinoma of the lung, and familial multinodular goiter. Eur J Med Genet. 2014;57(11–12):621–625. doi:10.1016/j.ejmg.2014.09.008
  • de Kock L, Wang YC, Revil T, et al. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet. 2016;53(1):43–52. doi:10.1136/jmedgenet-2015-103428
  • Durieux E, Descotes F, Mauduit C, Decaussin M, Guyetant S, Devouassoux-Shisheboran M. The co-occurrence of an ovarian Sertoli-Leydig cell tumor with a thyroid carcinoma is highly suggestive of a DICER1 syndrome. Virchows Arch. 2016;468(5):631–636. doi:10.1007/s00428-016-1922-0
  • Moke DJ, Thomas SM, Hiemenz MC, et al. Three synchronous malignancies in a patient with DICER1 syndrome. Eur J Cancer. 2018;93:140–143. doi:10.1016/j.ejca.2017.12.021
  • Cowan M, Suntum T, Olivas AD, et al. Second primary rhabdomyosarcoma of the uterine cervix presenting with synchronous ovarian Sertoli-Leydig cell tumor: an illustrative case of DICER1 syndrome. Gynecol Oncol Rep. 2018;25:94–97. doi:10.1016/j.gore.2018.06.008
  • Chen KS, Stuart SH, Stroup EK, et al. Distinct DICER1 hotspot mutations identify bilateral tumors as separate events. JCO Precis Oncol. 2018;2. doi:10.1200/PO.17.00113
  • Zhang Y, Ren M, Hong Y, et al. Sertoli-Leydig cell tumor in two siblings with DICER1 syndrome: a case report and literature review. Medicine. 2020;99(27):e20806. doi:10.1097/MD.0000000000020806