Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations
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- 作者：Leanne de Kock (1) (2)
Nelly Sabbaghian (2)
Fran?ois Plourde (2)
Archana Srivastava (2)
Evan Weber (3)
Dorothée Bouron-Dal Soglio (4)
Nancy Hamel (3) (5)
Joon Hyuk Choi (6)
Sung-Hye Park (7)
Cheri L. Deal (8)
Megan M. Kelsey (10) (9)
Megan K. Dishop (11)
Adam Esbenshade (12)
John F. Kuttesch (13) (30)
Thomas S. Jacques (14)
Arie Perry (15)
Heinz Leichter (16)
Philippe Maeder (17)
Marie-Anne Brundler (18) (31)
Justin Warner (19)
James Neal (20)
Margaret Zacharin (21)
Márta Korbonits (22)
Trevor Cole (23)
Heidi Traunecker (24)
Thomas W. McLean (25)
Fabio Rotondo (26)
Pierre Lepage (27)
Steffen Albrecht (28)
Eva Horvath (26)
Kalman Kovacs (26)
John R. Priest (29)
William D. Foulkes (1) (2) (3) (5) - 关键词：DICER1 ; Pituitary blastoma ; miRNA ; Pediatric tumors
- 刊名：Acta Neuropathologica
- 出版年：2014
- 出版时间：July 2014
- 年：2014
- 卷：128
- 期：1
- 页码：111-122
- 全文大小：
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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):154-64. doi:10.1002/path.4196 dx.doi.org/10.1002/path.4196" target="_blank" title="It opens in new window">CrossRef - 作者单位：Leanne de Kock (1) (2)
Nelly Sabbaghian (2)
Fran?ois Plourde (2)
Archana Srivastava (2)
Evan Weber (3)
Dorothée Bouron-Dal Soglio (4)
Nancy Hamel (3) (5)
Joon Hyuk Choi (6)
Sung-Hye Park (7)
Cheri L. Deal (8)
Megan M. Kelsey (10) (9)
Megan K. Dishop (11)
Adam Esbenshade (12)
John F. Kuttesch (13) (30)
Thomas S. Jacques (14)
Arie Perry (15)
Heinz Leichter (16)
Philippe Maeder (17)
Marie-Anne Brundler (18) (31)
Justin Warner (19)
James Neal (20)
Margaret Zacharin (21)
Márta Korbonits (22)
Trevor Cole (23)
Heidi Traunecker (24)
Thomas W. McLean (25)
Fabio Rotondo (26)
Pierre Lepage (27)
Steffen Albrecht (28)
Eva Horvath (26)
Kalman Kovacs (26)
John R. Priest (29)
William D. Foulkes (1) (2) (3) (5)
1. Department of Human Genetics, McGill University, 845 Rue Sherbrooke Ouest, Montreal, QC, H3A 0G4, Canada
2. Department of Medical Genetics, The Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, 3755 Cote St. Catherine Road, Room E-425, Montreal, QC, H3T 1E2, Canada
3. The Research Institute of the McGill University Health Centre, 1650 Cedar Ave, Montreal, QC, H3G 1A4, Canada
4. Department of Pathology, CHU-Sainte Justine and University of Montreal, 3175 Chemin de la C?te-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada
5. Program in Cancer Genetics, Department of Oncology and Human Genetics, McGill University, Montreal, QC, H2W 1S6, Canada
6. Department of Pathology, Yeungnam University College of Medicine, 317-1, Daemyung-Dong, Nam-Gu, Taegu City, 705-717, South Korea
7. Department of Pathology, Seoul National University, College of Medicine, 103 Daehangno, Jongno-gu, Seoul, 110-799, Republic of Korea
8. Department of Endocrinology, CHU-Sainte Justine and University of Montreal, 3175 Chemin de la C?te-Sainte-Catherine, Montreal, QC, H3T 1C5, Canada
10. Children’s Hospital Colorado, Aurora, CO, 80045, USA
9. Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, USA
11. Department of Pathology and Laboratory Medicine, Children’s Hospital Colorado, 13123 East 16th Avenue, Box 120, Aurora, CO, 80045, USA
12. Department of Pediatrics, Monroe Carell Jr. Children’s Hospital, 2220 Pierce Ave, 397 PRB, Nashville, TN, 37232-6310, USA
13. Department of Pediatrics, Vanderbilt School of Medicine and Vanderbilt Ingram Cancer Center, Nashville, TN, 37232, USA
30. Division of Pediatric Hematology/Oncology, Department of Pediatrics, University of New Mexico School of Medicine and the University of New Mexico Cancer Center, Albuquerque, NM, 87131, USA
14. Neural Development Unit, UCL Institute of Child Health and Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK
15. Departments of Pathology and Neurological Surgery, UCSF Medical Centre, 505 Parnassus Ave M551, San Francisco, CA, 94131, USA
16. Department of Pediatrics 2, Olgahospital, Bismarckstr. 8, 70176, Stuttgart, Germany
17. Department of Radiology, Centre Hospitalier Universitaire Vaudois, BH-07, Avenue du Bugnon 46, 1011, Lausanne, Switzerland
18. Birmingham Children’s Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK
31. Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Canada
19. Department of Child Health, University Hospital of Wales, Heath Park, Cardiff, CF14 4XW, UK
20. Department of Histopathology, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN, UK
21. Department of Endocrinology and Diabetes, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, VIC, 3052, Australia
22. Department of Endocrinology, Barts and the London School of Medicine, Queen Mary University of London, Charterhouse Square, London, EC1A 6BQ, UK
23. West Midlands Regional Genetics Service, Birmingham Women’s NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, West Midlands, B15 2TG, UK
24. Department of Pediatrics, The Children’s Hospital for Wales, Cardiff and Vale University Health Board, Heath Park, Cardiff, CF14 4XW, UK
25. Department of Pediatrics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, NC, 27157, USA
26. Division of Pathology, Department of Laboratory Medicine, St. Michael’s Hospital, University of Toronto, 30 Bond St, Toronto, ON, M5B 1W8, Canada
27. McGill University and Génome Québec Innovation Centre, 740 Dr. Penfield Avenue, Rm-7300, Montreal, QC, H3A 0G1, Canada
28. Department of Pathology, Montreal Children’s Hospital, McGill University Health Centre, 2300 Rue Tupper, Montreal, QC, H3H 1P3, Canada
29. Minneapolis, MN, USA - ISSN：1432-0533
文摘
Individuals harboring germ-line DICER1 mutations are predisposed to a rare cancer syndrome, the DICER1 Syndrome or pleuropulmonary blastoma-familial tumor and dysplasia syndrome [online Mendelian inheritance in man (OMIM) #601200]. In addition, specific somatic mutations in the DICER1 RNase III catalytic domain have been identified in several DICER1-associated tumor types. Pituitary blastoma (PitB) was identified as a distinct entity in 2008, and is a very rare, potentially lethal early childhood tumor of the pituitary gland. Since the discovery by our team of an inherited mutation in DICER1 in a child with PitB in 2011, we have identified 12 additional PitB cases. We aimed to determine the contribution of germ-line and somatic DICER1 mutations to PitB. We hypothesized that PitB is a pathognomonic feature of a germ-line DICER1 mutation and that each PitB will harbor a second somatic mutation in DICER1. Lymphocyte or saliva DNA samples ascertained from ten infants with PitB were screened and nine were found to harbor a heterozygous germ-line DICER1 mutation. We identified additional DICER1 mutations in nine of ten tested PitB tumor samples, eight of which were confirmed to be somatic in origin. Seven of these mutations occurred within the RNase IIIb catalytic domain, a domain essential to the generation of 5p miRNAs from the 5-arm of miRNA-precursors. Germ-line?DICER1?mutations are a major contributor to PitB. Second somatic DICER1 “hits-occurring within the RNase IIIb domain also appear to be critical in PitB pathogenesis.