DICER1 Syndrome and Cancer Predisposition: From a Rare Pediatric Tumor to Lifetime Risk

Overview

Journal Front Oncol

Specialty Oncology

Date 2021 Feb 8

PMID 33552988

Citations 17

Authors

Anna Maria Caroleo

Maria Antonietta De Ioris

Luigi Boccuto

Iside Alessi

Giada Del Baldo

Antonella Cacchione

Emanuele Agolini

Martina Rinelli

Annalisa Serra

Andrea Carai

Angela Mastronuzzi

Affiliations

Soon will be listed here.

Abstract

DICER1 syndrome is a rare genetic condition predisposing to hereditary cancer and caused by variants in the gene. The risk to present a neoplasm before the age of 10 years is 5.3 and 31.5% before the age of 60. variants have been associated with a syndrome involving familial pleuropulmonary blastoma (PPB), a rare malignant tumor of the lung, which occurs primarily in children under the age of 6 years and represents the most common life-threatening manifestation of DICER1 syndrome. Type I, II, III, and Ir (type I regressed) PPB are reported with a 5-year overall survival ranging from 53 to 100% (for type Ir). gene should be screened in all patients with PPB and considered in other tumors mainly in thyroid neoplasms (multinodular goiter, thyroid cancer, adenomas), ovarian tumors (Sertoli-Leydig cell tumor, sarcoma, and gynandroblastoma), and cystic nephroma. A prompt identification of this syndrome is necessary to plan a correct follow-up and screening during lifetime.

Citing Articles

Respiratory assessment and management of newborns and children with congenital lung diseases: a cohort study.

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Shedding light on the mutational spectrum of uncertain significance in malignant neoplasms.

Bug D, Moiseev I, Porozov Y, Petukhova N Front Mol Biosci. 2024; 11:1441180.

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Understanding the Dosage-Dependent Role of in Thyroid Tumorigenesis.

Rojo-Pardillo M, Godefroid L, Dom G, Lefort A, Libert F, Robaye B Int J Mol Sci. 2024; 25(19).

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Pleuropulmonary Blastoma: A Report of Two Rare Cases.

Sathiah P, Srinivas B Cureus. 2024; 16(5):e60021.

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Ultrasound-Histopathological Presentation of Thyroid and Ovary Lesions in Adolescent Patients with DICER1 Syndrome: Case Reports and Literature Overview.

Janus D, Kujdowicz M, Kaleta K, Mozdzen K, Radlinski J, Taczanowska-Niemczuk A Children (Basel). 2024; 11(4).

PMID: 38671620 PMC: 11049647. DOI: 10.3390/children11040403.

References

Blandino G, Valerio M, Cioce M, Mori F, Casadei L, Pulito C . Metformin elicits anticancer effects through the sequential modulation of DICER and c-MYC. Nat Commun. 2012; 3:865. DOI: 10.1038/ncomms1859. View

Frio T, Bahubeshi A, Kanellopoulou C, Hamel N, Niedziela M, Sabbaghian N . DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors. JAMA. 2011; 305(1):68-77. PMC: 3406486. DOI: 10.1001/jama.2010.1910. View

Goulvent T, Ray-Coquard I, Borel S, Haddad V, Devouassoux-Shisheboran M, Vacher-Lavenu M . DICER1 and FOXL2 mutations in ovarian sex cord-stromal tumours: a GINECO Group study. Histopathology. 2015; 68(2):279-85. DOI: 10.1111/his.12747. View

Khan N, Bauer A, Schultz K, Doros L, DeCastro R, Ling A . Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. J Clin Endocrinol Metab. 2017; 102(5):1614-1622. PMC: 5443331. DOI: 10.1210/jc.2016-2954. View

Apellaniz-Ruiz M, de Kock L, Sabbaghian N, Guaraldi F, Ghizzoni L, Beccuti G . Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame deletion. Eur J Endocrinol. 2017; 178(2):K11-K19. DOI: 10.1530/EJE-17-0904. View

Dehner L, Jarzembowski J, Hill D . Embryonal rhabdomyosarcoma of the uterine cervix: a report of 14 cases and a discussion of its unusual clinicopathological associations. Mod Pathol. 2011; 25(4):602-14. PMC: 5031244. DOI: 10.1038/modpathol.2011.185. View

Bernstein E, Kim S, Carmell M, Murchison E, Alcorn H, Li M . Dicer is essential for mouse development. Nat Genet. 2003; 35(3):215-7. DOI: 10.1038/ng1253. View

Carthew R . Gene regulation by microRNAs. Curr Opin Genet Dev. 2006; 16(2):203-8. DOI: 10.1016/j.gde.2006.02.012. View

de Kock L, Wang Y, Revil T, Badescu D, Rivera B, Sabbaghian N . High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet. 2015; 53(1):43-52. DOI: 10.1136/jmedgenet-2015-103428. View

10.

de Kock L, Sabbaghian N, Druker H, Weber E, Hamel N, Miller S . Germ-line and somatic DICER1 mutations in pineoblastoma. Acta Neuropathol. 2014; 128(4):583-95. PMC: 4381868. DOI: 10.1007/s00401-014-1318-7. View

11.

Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S . DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet. 2011; 48(4):273-8. DOI: 10.1136/jmg.2010.083790. View

12.

Wu M, Vujanic G, Fahiminiya S, Watanabe N, Thorner P, OSullivan M . Anaplastic sarcomas of the kidney are characterized by DICER1 mutations. Mod Pathol. 2017; 31(1):169-178. DOI: 10.1038/modpathol.2017.100. View

13.

Sahakitrungruang T, Srichomthong C, Pornkunwilai S, Amornfa J, Shuangshoti S, Kulawonganunchai S . Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease. J Clin Endocrinol Metab. 2014; 99(8):E1487-92. DOI: 10.1210/jc.2014-1016. View

14.

Fadare O . Uncommon sarcomas of the uterine cervix: a review of selected entities. Diagn Pathol. 2006; 1:30. PMC: 1584249. DOI: 10.1186/1746-1596-1-30. View

15.

Priest J, Williams G, Mize W, Dehner L, McDermott M . Nasal chondromesenchymal hamartoma in children with pleuropulmonary blastoma--A report from the International Pleuropulmonary Blastoma Registry registry. Int J Pediatr Otorhinolaryngol. 2010; 74(11):1240-4. DOI: 10.1016/j.ijporl.2010.07.022. View

16.

Lambertz I, Nittner D, Mestdagh P, Denecker G, Vandesompele J, Dyer M . Monoallelic but not biallelic loss of Dicer1 promotes tumorigenesis in vivo. Cell Death Differ. 2009; 17(4):633-41. PMC: 2892162. DOI: 10.1038/cdd.2009.202. View

17.

Peshtani A, Kaliki S, Eagle R, Shields C . Medulloepithelioma: A triad of clinical features. Oman J Ophthalmol. 2014; 7(2):93-5. PMC: 4134557. DOI: 10.4103/0974-620X.137171. View

18.

Schultz K, Rednam S, Kamihara J, Doros L, Achatz M, Wasserman J . , and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood. Clin Cancer Res. 2017; 23(12):e76-e82. DOI: 10.1158/1078-0432.CCR-17-0629. View

19.

Lee J, Mazor T, Lao R, Wan E, Diallo A, Hill N . Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma. Acta Neuropathol. 2019; 137(5):851-854. PMC: 6483828. DOI: 10.1007/s00401-019-01990-5. View

20.

Stewart C, Charles A, Foulkes W . Gynecologic Manifestations of the DICER1 Syndrome. Surg Pathol Clin. 2016; 9(2):227-41. DOI: 10.1016/j.path.2016.01.002. View