DICER1 mutations in childhood cystic nephroma and its relationship to DICER1-renal sarcoma

Modern Pathology

Volumn 27, Issue 9, 2014, Pages 1267-1280

  Doros, Leslie A ^a   Rossi, Christopher T ^a   Yang, Jiandong ^a,b   Field, Amanda ^a,b   Williams, Gretchen M ^c   Messinger, Yoav ^c   Cajaiba, Mariana M ^d   Perlman, Elizabeth J ^e   Schultz, Kris A ^c   Cathro, Helen P ^f   Legallo, Robin D ^f   LaFortune, Kristin A ^f   Chikwava, Kudakwashe R ^g   Faria, Paulo ^h   Geller, James I ⁱ   Dome, Jeffrey S ^a   Mullen, Elizabeth A ^j   Gratias, Eric J ^k   Dehner, Louis P ^c,l   Hill, D Ashley ^a,b,c  

^a GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

^b Children s Research Institute   (United States)

^c CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^d VANDERBILT UNIVERSITY   (United States)

^e CHILDREN'S MEMORIAL HOSPITAL   (United States)

^f UNIVERSITY OF VIRGINIA   (United States)

^g CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^h INSTITUTO NACIONAL DE CÂNCER   (Brazil)

ⁱ CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^j HARVARD UNIVERSITY   (United States)

^k UNIVERSITY OF TENNESSEE COLLEGE OF MEDICINE   (United States)

^l WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

Cystic nephroma; DICER1; Embryonal rhabdomyosarcoma; Pleuropulmonary blastoma; Renal cysts; Renal sarcoma; Wilms tumor

Indexed keywords

AMINO ACID; RIBONUCLEASE III; DEAD BOX PROTEIN; DICER1 PROTEIN, HUMAN; TUMOR MARKER;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHILDHOOD; COHORT ANALYSIS; CYSTIC NEPHROMA; DICER1 GENE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; KIDNEY SARCOMA; KIDNEY TUMOR; LOSS OF FUNCTION MUTATION; LUNG BLASTOMA; MALE; MALIGNANT TRANSFORMATION; MISSENSE MUTATION; NEPHROBLASTOMA; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; YOUNG ADULT; CASE REPORT; GENETICS; IMMUNOHISTOCHEMISTRY; INFANT; KIDNEY POLYCYSTIC DISEASE; METABOLISM; PATHOLOGY; SARCOMA; SECOND CANCER;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DEAD-BOX RNA HELICASES; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; KIDNEY NEOPLASMS; MALE; MUTATION, MISSENSE; NEOPLASMS, SECOND PRIMARY; POLYCYSTIC KIDNEY DISEASES; RIBONUCLEASE III; SARCOMA; TUMOR MARKERS, BIOLOGICAL; WILMS TUMOR; YOUNG ADULT;

EID: 84925232203     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2013.242     Document Type: Article

References (39)

1. Boggs LK, Kimmelstiel P. Benign multilocular cystic nephroma: Report of two cases of so-called multilocular cyst of the kidney. J Urol 1956;76:530-541.
2. Joshi VV, Banerjee AK, Yadav K, et al. Cystic partially differentiated nephroblastoma: a clinicopathologic entity in the spectrum of infantile renal neoplasia. Cancer 1977;40:789-795.
3. Murphy WM, Grignon DJ, Perlman EJ. Tumors of the kidney, bladder and related urinary structures. Washington DC. American Registry of Pathology 2004;1:47-49.
4. Delahunt B, Thomson KJ, Ferguson AF, et al. Familial cystic nephroma and pleuropulmonary blastoma. Cancer 1993;71:1338-1342.
5. Priest JR, Watterson J, Strong L, et al. Pleuropulmonary blastoma: a marker for familial disease. J Pediatr 1996;128:220-224.
6. Bal N, Kayaselcuk F, Polat A, et al. Familial cystic nephroma in two siblings with pleuropulmonary blastoma. Pathol Oncol Res 2005;11:53-56.
7. Boman F, Hill DA, Williams GM, et al. Familial association of pleuropulmonary blastoma with cystic nephroma and other renal tumors: A report from the International Pleuropulmonary Blastoma Registry. J Pediatr 2006;149:850-854.
8. Hill DA, Ivanovich J, Priest JR, et al. DICER1 mutations in familial pleuropulmonary blastoma. Science 2009;325:965.
9. Pugh TJ, Yu W, Yang J, et al. Progressive biallelic loss of TP53 is associated with progression of pleuropulmonary blastoma initiated by germline loss and somatic mutation of DICER1. American Association of Cancer Researchers Annual Meeting, 2013 Washington, DC, USA.
10. 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.
11. Schultz KA, Pacheco MC, Yang J, et al. Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry. Gynecol Oncol 2011;122:246-250.
12. Thorvaldsdóttir H, Robinson JT, Mesirov JP. Integrative genomics viewer (IGV): high-performance genomics data visualization and exploration. Briefing Bioinformatics 2013;14:178-192.
13. Robinson JT, Thorvaldsdóttir H, Winckler W, et al. Integrative Genomics Viewer. Nat Biotechnol 2011;29:24-26.
14. Seal RL, Gordon SM, Lush MJ, et al. Genenames.org: the HGNC resources in 2011. Nucleic Acids Res 2011;39(Database issue):D514-D519.
15. Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-874.
16. Sim NL, Kumar P, Hu J, et al. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res 2012;40(Web Server issue):W452-W457.
17. Shaheen IS, Fitzpatrick M, Brownlee K, et al. Bilateral progressive cystic nephroma in a 9-month-old male infant requiring renal replacement therapy. Pediatr Nephrol 2010;25:1755-1758.
18. Faria PA, Zerbini MC. Dedifferentiated cystic nephroma with malignant mesenchymoma as the dedifferentiated component. Pediatr Pathol Lab Med 1996;16:1003-1011.
19. Joshi VV, Beckwith JB. Multilocular cyst of the kidney (cystic nephroma) and cystic partially differentiated nephroblastoma. Terminology and criteria for diagnosis. Cancer 1989;64:466-479.
20. Turbiner J, Amin MB, Humphrey PA, et al. Cystic nephroma and mixed epithelial and stromal tumor of kidney: a detailed clinicopathologic analysis of 34 cases and proposal for renal epithelial and stromal tumor (REST) as a unifying term. Am J Surg Pathol 2007;31:489-500.
21. Zhou M, Kort E, Hoekstra P, et al. Adult cystic nephroma and mixed epithelial and stromal tumor of the kidney are the same entity. Molecular and histologic evidence. Am J Surg Pathol 2009;33:72-80.
22. Bahubeshi A, Bal N, Rio Frio T, et al. Germline DICER1 mutations and familial cystic nephroma. J Med Genet 2010;47:863-866.
23. Hill DA, Jarzembowski JA, Priest JR, et al. Type I pleuropulmonary blastoma: pathology and biology study of 51 cases from the International Pleuropulmonary Blastoma Registry. Am J Surg Pathol 2008;32:282-295.
24. Harris KS, Zhang Z, McManus MT, et al. Dicer function is essential for lung epithelium morphogenesis. Proc Natl Acad Sci USA 2006;103:2208-2213.
25. Nagalakshmi VK, Ren Q, Pugh MM, et al. Dicer regulates the development of nephrogenic and ureteric compartments in the mammalian kidney. Kidney Int 2011;79:317-330.
26. Pastorelli LM, Wells S, Fray M, et al. Genetic analyses reveal a requirement for Dicer1 in the mouse urogenital tract. Mamm Genome 2009;20:140-151.
27. Priest JR, McDermott MB, Bhatia S, et al. Pleuropulmonary blastoma: a clinicopathologic study of 50 cases. Cancer 1997;80:147-161.
28. Manivel JC, Priest JR, Watterson J, et al. Pleuropulmonary blastoma. The so-called pulmonary blastoma of childhood. Cancer 1988;62:1516-1526.
29. Vujanić GM, Kelsey A, Perlman EJ, et al. Anaplastic sarcoma of the kidney: a clinicopathologic study of 20 cases of a new entity with polyphenotypic features. Am J Surg Pathol 2007;10:1459-1468.
30. Delahunt B, Beckwith JB, Eble JN, et al. Cystic embryonal sarcoma of kidney: a case report. Cancer 1998;82:2427-2433.
31. Sola JE, Cova D, Casillas J, et al. Primary renal botryoid rhabdomyosarcoma: diagnosis and outcome. J Pediatr Surg 2007;42:e17-e20.
32. Raney B, Anderson J, Arndt C, et al. Primary renal sarcomas in the Intergroup Rhabdomyosarcoma Study Group (IRSG) experience, 1972-2005: A report from the Children's Oncology Group. Pediatr Blood Cancer 2008;51:339-343.
33. Luithle T, Szavay P, Furtwangler R, et al. SIOP/GPOH Study Group. Treatment of cystic nephroma and cystic partially differentiated nephroblastoma - a report from the SIOP/GPOH study group. J Urol 2007;177:294-296.
34. van den Hoek J, de Kriger R, van de Ven K, et al. Cystic nephroma, cystic partially differentiated nephroblastoma and cystic Wilms tumor in children: a spectrum with therapeutic dilemmas. Urol Int 2009;82:65-70.
35. 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.
36. Wu M, Sabbaghian N, Xu B, et al. Biallelic DICER1 mutations occur in Wilms tumours. J Pathol 2013;230:154-164.
37. Foulkes WD, Bahubeshi A, Hamel N, et al. Extending the phenotypes associated with DICER1 mutations. Hum Mutat 2011;32:1381-1384.
38. Hill DA, Doros L, Schultz KA, et al. DICER1 syndrome disorders. In: Pagon RA, Adam MP, Bird TD, et al (eds). Gene Reviews (Internet). Seattle, WA: University of Washington, Seattle, 1993-2014, (in press, 2014) Available from: http://www.ncbi.nlm.nih.gov/books/NBK1116.
39. DICER1-related PPB studydceg.cancer.gov/research/clinical-studies/dicer1-ppb-study.