Germline and somatic DICER1 mutations in a pituitary blastoma causing infantile-onset Cushing's disease

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 8, 2014, Pages

  Sahakitrungruang, Taninee ^a   Srichomthong, Chalurmpon ^a,b   Pornkunwilai, Sopon ^a   Amornfa, Jiraporn ^a   Shuangshoti, Shanop ^a   Kulawonganunchai, Supasak ^a,b   Suphapeetiporn, Kanya ^a,b   Shotelersuk, Vorasuk ^a,b  

^a CHULALONGKORN UNIVERSITY   (Thailand)

^b KING CHULALONGKORN MEMORIAL HOSPITAL   (Thailand)

Author keywords

[No Author keywords available]

Indexed keywords

AGE FACTORS; DEAD-BOX RNA HELICASES; FEMALE; GERM-LINE MUTATION; HUMANS; INFANT; MUTATION, MISSENSE; NEOPLASMS, GERM CELL AND EMBRYONAL; PITUITARY ACTH HYPERSECRETION; PITUITARY NEOPLASMS; RIBONUCLEASE III; THAILAND;

EID: 84905825179     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1016     Document Type: Article

References (20)

1. Miller WL, Townsend JJ, Grumbach MM, Kaplan SL. An infant with Cushing's disease due to an adrenocorticotropin-producing pituitary adenoma. J Clin Endocrinol Metab. 1979;48:1017-1025.
2. SaegerW, RuttmannE, LüdeckeD.ACTHsecreting pituitaryadenomain an infant of 18 months. Immunohistochemical, electron-microscopic, and in-vitro studies. Pathol Res Pract. 1981;173:121-129.
3. Sumner TE, Volberg FM. Cushing's syndrome in infancy due to pituitary adenoma. Pediatr Radiol. 1982;12:81-83.
4. Pullins DI, Challa VR, Marshall RB, DavisCHJr. ACTH-producing pituitary adenoma in an infant with cysts of the kidneys and lungs. Histopathology 1984;8:157-163.
5. Stegner H, Lüdecke DK, Kadrnka-Lovrencic M, Stahnke N, Willig RP. Cushing's disease due to an unusually large adenoma of the pituitary gland in infancy. Eur J Pediatr. 1985;143:221-223.
6. Maeder P, Gudinchet F, Rillet B, Theintz G, Meuli R. Cushing's disease due to a giant pituitary adenoma in early infancy: CT and MRI features. Pediatr Radiol. 1996;26:48-50.
7. List JV, Sobottka S, Huebner A, et al. Cushing's disease in a 7-month-old girlduetoatumorproducingadrenocorticotropichormoneandthyreotropin- secreting hormone. Pediatr Neurosurg. 1999;31:7-11.
8. Khadilkar VV, Khadilkar AV, Navrange JR. Cushing's disease in an 11-month-old child. Indian Pediatr. 2004;41:274-276.
9. Moriarty M, Hoe F. Cushing disease in a toddler: not all obese children are just fat. Curr Opin Pediatr. 2009;21:548-552.
10. Scheithauer BW, Kovacs K, Horvath E, et al. Pituitary blastoma. Acta Neuropathol. 2008;116:657-666.
11. Scheithauer BW, Horvath E, Abel TW, et al. Pituitary blastoma: a unique embryonal tumor. Pituitary. 2012;15:365-373.
12. Wildi-Runge S, Bahubeshi A, Carret A, et al. New phenotype in the familial DICER1 tumor syndrome: pituitary blastoma presenting at age 9 months. Endocr Rev. 2011;32:P1-777.
13. Chiosea S, Jelezcova E, Chandran U, et al. Overexpression of Dicer in precursor lesions of lung adenocarcinoma. Cancer Res. 2007;67: 2345-2350.
14. Hill DA, Ivanovich J, Priest JR, et al. DICER1 mutations in familial pleuropulmonary blastoma. Science. 2009;325:965.
15. 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; 48:273-278.
16. Nieman LK, Biller BM, Findling JW, et al. The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2008;93:1526-1540.
17. Zhang Z, Florez S, Gutierrez-Hartmann A, Martin JF, Amendt BA. MicroRNAs regulate pituitary development, and microRNA 26b specifically targets lymphoid enhancer factor 1 (Lef-1), which modulates pituitary transcription factor 1 (Pit-1) expression. J Biol Chem. 2010;285:34718-34728.
18. Heravi-Moussavi A, Anglesio MS, Cheng SW, et al. Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers. N Engl J Med. 2012;366:234-242.
19. 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;229:400-409.
20. Gurtan AM, Lu V, Bhutkar A, Sharp PA. In vivo structure-function analysis of human Dicer reveals directional processing of precursor miRNAs. RNA. 2012;18:1116-1122.