Pituitary blastoma: A pathognomonic feature of germ-line DICER1 mutations

Acta Neuropathologica

Volumn 128, Issue 1, 2014, Pages 111-122

  De Kock, Leanne ^a,b   Sabbaghian, Nelly ^b   Plourde, François ^b   Srivastava, Archana ^b   Weber, Evan ^c   Bouron Dal Soglio, Dorothée ^d   Hamel, Nancy ^a,c   Choi, Joon Hyuk ^e   Park, Sung Hye ^f   Deal, Cheri L ^d   Kelsey, Megan M ^g,h   Dishop, Megan K ^h   Esbenshade, Adam ⁱ   Kuttesch, John F ^j,w   Jacques, Thomas S ^k   Perry, Arie ^l   Leichter, Heinz ^m   Maeder, Philippe ⁿ   Brundler, Marie Anne ^o,x   Warner, Justin ^p   Neal, James ^p   Zacharin, Margaret ^q   Korbonits, Márta ^r   Cole, Trevor ^o   Traunecker, Heidi ^s   McLean, Thomas W ^t   Rotondo, Fabio ^u   Lepage, Pierre ^a   Albrecht, Steffen ^v   Horvath, Eva ^u   Kovacs, Kalman ^u   Priest, John R ^m   Foulkes, William D ^a,b,c   more..

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

^e Yeungnam University College of Medicine   (South Korea)

^f Seoul National University   (South Korea)

^g Children's Hospital Colorado   (United States)

^h CHILDREN S HOSPITAL COLORADO   (United States)

ⁱ MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^j VANDERBILT INGRAM CANCER CENTER   (United States)

^k GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^l UNIVERSITY OF CALIFORNIA   (United States)

^m Department of Pediatrics Vanderbilt School of Medicine Vanderbilt Ingram Cancer Center ^*

ⁿ LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^o BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^p UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^q ROYAL CHILDREN'S HOSPITAL   (Australia)

^r QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^s CHILDREN S HOSPITAL FOR WALES   (United Kingdom)

^t WAKE FOREST SCHOOL OF MEDICINE   (United States)

^u ST MICHAEL'S HOSPITAL   (Canada)

^v MONTREAL CHILDREN S HOSPITAL   (Canada)

^w UNIVERSITY OF NEW MEXICO SCHOOL OF MEDICINE   (United States)

^x UNIVERSITY OF CALGARY   (Canada)

more..

Author keywords

DICER1; miRNA; Pediatric tumors; Pituitary blastoma

Indexed keywords

DICER; DICER1 PROTEIN; MICRORNA; RIBONUCLEASE III; UNCLASSIFIED DRUG; DEAD BOX PROTEIN; DICER1 PROTEIN, HUMAN;

ARTICLE; BLASTOMA; CHILD; CLINICAL ARTICLE; FEMALE; GERMLINE MUTATION; HETEROZYGOTE; HUMAN; HUMAN TISSUE; HYPOPHYSIS TUMOR; INFANT; LYMPHOCYTE; MALE; PATHOGENESIS; PITUITARY BLASTOMA; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SALIVA ANALYSIS; SOMATIC MUTATION; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; FATALITY; GENETICS; IMMUNOHISTOCHEMISTRY; MUTATION; NEOPLASMS, COMPLEX AND MIXED; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PITUITARY NEOPLASMS; THORAX RADIOGRAPHY; TREATMENT OUTCOME;

CHILD, PRESCHOOL; DEAD-BOX RNA HELICASES; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; GERM-LINE MUTATION; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MAGNETIC RESONANCE IMAGING; MUTATION; NEOPLASMS, COMPLEX AND MIXED; PEDIGREE; PITUITARY NEOPLASMS; RADIOGRAPHY, THORACIC; RIBONUCLEASE III; TOMOGRAPHY, X-RAY COMPUTED; TREATMENT OUTCOME;

EID: 84903819722     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-014-1285-z     Document Type: Article

References (30)

1. Anglesio MS, Wang Y, Yang W, Senz J, Wan A, Heravi-Moussavi A, Salamanca C, Maines-Bandiera S, Huntsman DG, Morin GB (2013) 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 229(3):400-409. doi:10.1002/path.4135
2. Bahubeshi A, Bal N, Rio Frio T, Hamel N, Pouchet C, Yilmaz A, Bouron-Dal Soglio D, Williams GM, Tischkowitz M, Priest JR, Foulkes WD (2010) Germline DICER1 mutations and familial cystic nephroma. J Med Genet 47(12):863-866. doi:10.1136/jmg.2010.081216
3. Baker M (2012) Cancer stem cells tracked. Nature 488(7409):13-14. doi:10.1038/488013a
4. Chen J, Li Y, Yu TS, McKay RM, Burns DK, Kernie SG, Parada LF (2012) A restricted cell population propagates glioblastoma growth after chemotherapy. Nature 488(7412):522-526. doi:10.1038/nature11287
5. Foulkes WD, Bahubeshi A, Hamel N, Pasini B, Asioli S, Baynam G, Choong CS, Charles A, Frieder RP, Dishop MK, Graf N, Ekim M, Bouron-Dal Soglio D, Arseneau J, Young RH, Sabbaghian N, Srivastava A, Tischkowitz MD, Priest JR (2011) Extending the phenotypes associated with DICER1 mutations. Hum Mutat 32(12):1381-1384. doi:10.1002/humu.21600
6. Gurtan AM, Lu V, Bhutkar A, Sharp PA (2012) In vivo structure-function analysis of human Dicer reveals directional processing of precursor miRNAs. RNA 18(6):1116-1122. doi:10.1261/rna.032680.112
7. Hill DA, Ivanovich J, Priest JR, Gurnett CA, Dehner LP, Desruisseau D, Jarzembowski JA, Wikenheiser-Brokamp KA, Suarez BK, Whelan AJ, Williams G, Bracamontes D, Messinger Y, Goodfellow PJ (2009) DICER1 mutations in familial pleuropulmonary blastoma. Science 325(5943):965. doi:10.1126/science.1174334
8. Horvath E, Vidal S, Syro LV, Kovacs K, Smyth HS, Uribe H (2001) Severe lymphocytic adenohypophysitis with selective disappearance of prolactin cells: a histologic, ultrastructural and immunoelectron microscopic study. Acta Neuropathol 101(6):631-637 (Pubitemid 32684763)
9. Klein S, Lee H, Ghahremani S et al (2014) Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome. J Med Genet 51:294-302
10. Kovacs K, Lloyd R, Horvath E, Asa SL, Stefaneanu L, Killinger DW, Smyth HS (1989) Silent somatotroph adenomas of the human pituitary. A morphologic study of three cases including immunocytochemistry, electron microscopy, in vitro examination, and in situ hybridization. Am J Pathol 134(2):345-353 (Pubitemid 19063890)
11. Krol J, Loedige I, Filipowicz W (2010) The widespread regulation of microRNA biogenesis, function and decay. Nat Rev Genet 11(9):597-610. doi:10.1038/nrg2843
12. Levy SR, Wynne CV Jr, Lorentz WB Jr (1982) Cushing's syndrome in infancy secondary to pituitary adenoma. Am J Dis Child 136(7):605-607 (Pubitemid 12075626)
13. List JV, Sobottka S, Huebner A, Bonk C, Koy J, Pinzer T, Schackert G (1999) Cushing's disease in a 7-month-old girl due to a tumor producing adrenocorticotropic hormone and thyreotropin-secreting hormone. Pediatr Neurosurg 31(1):7-11. (Pubitemid 29503045)
14. Maeder P, Gudinchet F, Rillet B, Theintz G, Meuli R (1996) Cushing's disease due to a giant pituitary adenoma in early infancy: CT and MRI features. Pediatr Radiol 26(1):48-50 (Pubitemid 26030743)
15. Miller WL, Townsend JJ, Grumbach MM, Kaplan SL (1979) An infant with Cushing's disease due to an adrenocorticotropin-producing pituitary adenoma. J Clin Endocrinol Metab 48(6):1017-1025. doi:10.1210/jcem-48-6-1017 (Pubitemid 9190855)
16. Min HS, Lee SJ, Kim SK, Park SH (2007) Pituitary adenoma with rich folliculo-stellate cells and mucin-producing epithelia arising in a 2-year-old girl. Pathol Int 57(9):600-605. doi:10.1111/j.1440-1827.2007.02145.x (Pubitemid 47222710)
17. Moriarty M, Hoe F (2009) Cushing disease in a toddler: not all obese children are just fat. Curr Opin Pediatr 21(4):548-552. doi:10.1097/MOP. 0b013e32832d1f4f
18. Murray MJ, Bailey S, Raby KL, Saini HK, de Kock L, Burke GA, Foulkes WD, Enright AJ, Coleman N, Tischkowitz M (2014) Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma. Oncogenesis 3:e87. doi:10.1038/oncsis. 2014.1
19. Peng C, Li N, Ng YK, Zhang J, Meier F, Theis FJ, Merkenschlager M, Chen W, Wurst W, Prakash N (2012) A unilateral negative feedback loop between miR-200 microRNAs and Sox2/E2F3 controls neural progenitor cell-cycle exit and differentiation. J Neurosci 32(38):13292-13308. doi:10.1523/JNEUROSCI.2124-12. 2012
20. Pullins DI, Challa VR, Marshall RB, Davis CH Jr (1984) ACTH-producing pituitary adenoma in an infant with cysts of the kidneys and lungs. Histopathology 8(1):157-163 (Pubitemid 14180886)
21. Sabbaghian N, Hamel N, Srivastava A, Albrecht S, Priest JR, Foulkes WD (2012) Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma. J Med Genet 49(7):417-419. doi:10.1136/jmedgenet-2012-100898
22. Sabbaghian N, Srivastava A, Hamel N, Plourde F, Gajtko-Metera M, Niedziela M, Foulkes WD (2013) Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides. Eur J Hum Genet. doi:10.1038/ejhg.2013.215
23. Scheithauer BW, Horvath E, Abel TW, Robital Y, Park SH, Osamura RY, Deal C, Lloyd RV, Kovacs K (2012) Pituitary blastoma: a unique embryonal tumor. Pituitary 15(3):365-373. doi:10.1007/s11102-011-0328-x
24. Scheithauer BW, Kovacs K, Horvath E, Kim DS, Osamura RY, Ketterling RP, Lloyd RV, Kim OL (2008) Pituitary blastoma. Acta Neuropathol 116(6):657-666. doi:10.1007/s00401-008-0388-9
25. Slade I, Bacchelli C, Davies H, Murray A, Abbaszadeh F, Hanks S, Barfoot R, Burke A, Chisholm J, Hewitt M, Jenkinson H, King D, Morland B, Pizer B, Prescott K, Saggar A, Side L, Traunecker H, Vaidya S, Ward P, Futreal PA, Vujanic G, Nicholson AG, Sebire N, Turnbull C, Priest JR, Pritchard-Jones K, Houlston R, Stiller C, Stratton MR, Douglas J, Rahman N (2011) DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome. J Med Genet 48(4):273-278. doi:10.1136/jmg.2010.083790
26. Sumner TE, Volberg FM (1982) Cushing's syndrome in infancy due to pituitary adenoma. Pediatr Radiol 12(2):81-83 (Pubitemid 12147772)
27. Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD (2007) Analysis of PALB2/FANCN-associated breast cancer families. Proc Natl Acad Sci USA 104(16):6788-6793. doi:10.1073/pnas.0701724104 (Pubitemid 47175579)
28. Wildi-Runge S, Bahubeshi A, Carret A-S, Crevier L, Robitaille Y, Kovacs K, Horvath E, Scheithauer BW, Foulkes WD, Deal C (2011) New phenotype in the familial DICER1 tumor syndrome: pituitary blastoma presenting at age 9 months. endocrine reviews 32(03-MeetingAbstracts):P1-P777
29. Witkowski L, Mattina J, Schonberger S, Murray MJ, Choong CS, Huntsman DG, Reis-Filho JS, McCluggage WG, Nicholson JC, Coleman N, Calaminus G, Schneider DT, Arseneau J, Stewart CJ, Foulkes WD (2013) DICER1 hotspot mutations in non-epithelial gonadal tumours. Br J Cancer 109(10):2744-2750. doi:10.1038/bjc.2013.637
30. Wu MK, Sabbaghian N, Xu B, Addidou-Kalucki S, Bernard C, Zou D, Reeve AE, Eccles MR, Cole C, Choong CS, Charles A, Tan TY, Iglesias DM, Goodyer PR, Foulkes WD (2013) Biallelic DICER1 mutations occur in Wilms tumours. J Pathol 230(2):154-164. doi:10.1002/path.4196