Molecular analyses of 6 different types of uterine smooth muscle tumors: Emphasis in atypical leiomyoma

Cancer

Volumn 120, Issue 20, 2014, Pages 3165-3177

  Zhang, Qing ^a,b   Ubago, Julianne ^b   Li, Li ^a   Guo, Haiyang ^c   Liu, Yugang ^b   Qiang, Wenan ^b   Kim, J Julie ^b   Kong, Beihua ^a   Wei, Jian Jun ^b  

^a SHANDONG UNIVERSITY   (China)

^b NORTHWESTERN UNIVERSITY   (United States)

^c SHANDONG UNIVERSITY   (China)

Author keywords

Atypical leiomyoma; Gene mutations; Leiomyosarcoma; MicroRNA signature; Tumorigenesis; Uterine smooth muscle tumor

Indexed keywords

MICRORNA 34A; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN P53; TUMOR MARKER;

ADULT; AGE; ARTICLE; ATYPICAL LEIOMYOMA; CANCER MORTALITY; CANCER PROGNOSIS; CANCER SURVIVAL; CARCINOGENESIS; CELLULAR LEIOMYOMA; CONTROLLED STUDY; DOWN REGULATION; FEMALE; GENE DELETION; GENE EXPRESSION REGULATION; GENE LOSS; GENETIC ASSOCIATION; HISTOLOGY; HUMAN; HUMAN TISSUE; LEIOMYOMA; LEIOMYOSARCOMA; MAJOR CLINICAL STUDY; MED12 GENE; MITOTICALLY ACTIVE LEIOMYOMA; ONCOGENE; OVERALL SURVIVAL; POINT MUTATION; POLYMERASE CHAIN REACTION; PTEN GENE; TUMOR SUPPRESSOR GENE; TUMOR VOLUME; UNCERTAIN MALIGNANT POTENTIAL; UTERUS MYOMA; GENETICS; METABOLISM; MIDDLE AGED; MUSCLE TUMOR; MUTATION; PATHOLOGY; UTERUS CANCER;

FEMALE; HUMANS; LEIOMYOMA; LEIOMYOSARCOMA; MIDDLE AGED; MUTATION; SMOOTH MUSCLE TUMOR; TUMOR MARKERS, BIOLOGICAL; UTERINE NEOPLASMS;

EID: 84907966535     PISSN: 0008543X     EISSN: 10970142     Source Type: Journal    
DOI: 10.1002/cncr.28900     Document Type: Article

References (45)

1. Leibsohn S, d'Ablaing G, Mishell DR Jr, Schlaerth JB. Leiomyosarcoma in a series of hysterectomies performed for presumed uterine leiomyomas. Am J Obstet Gynecol. 1990;162:968-974; discussion 74-76.
2. Giuntoli RL 2nd, Metzinger DS, DiMarco CS, et al. Retrospective review of 208 patients with leiomyosarcoma of the uterus: prognostic indicators, surgical management, and adjuvant therapy. Gynecol Oncol. 2003;89:460-469.
3. Layfield LJ, Liu K, Dodge R, Barsky SH. Uterine smooth muscle tumors: utility of classification by proliferation, ploidy, and prognostic markers versus traditional histopathology. Arch Pathol Lab Med. 2000;124:221-227.
4. Bell SW, Kempson RL, Hendrickson MR. Problematic uterine smooth muscle neoplasms. A clinicopathologic study of 213 cases. Am J Surg Pathol. 1994;18:535-558.
5. Ly A, Mills AM, McKenney JK, et al. Atypical leiomyomas of the uterus: a clinicopathologic study of 51 cases. Am J Surg Pathol 2013; 37:643-649.
6. Lee WY, Tzeng CC, Chou CY. Uterine leiomyosarcomas coexistent with cellular and atypical leiomyomata in a young woman during the treatment with luteinizing hormone-releasing hormone agonist. Gynecol Oncol. 1994;52:74-79.
7. Mittal KR, Chen F, Wei JJ, et al. Molecular and immunohistochemical evidence for the origin of uterine leiomyosarcomas from associated leiomyoma and symplastic leiomyoma-like areas. Mod Pathol. 2009;22:1303-1311.
8. Mills AM, Ly A, Balzer BL, et al. Cell cycle regulatory markers in uterine atypical leiomyoma and leiomyosarcoma: immunohistochemical study of 68 cases with clinical follow-up. Am J Surg Pathol. 2013;37:634-642.
9. Chiang S, Oliva E. Recent developments in uterine mesenchymal neoplasms. Histopathology. 2013;62:124-137.
10. Christacos NC, Quade BJ, Dal Cin P, Morton CC. Uterine leiomyomata with deletions of Ip represent a distinct cytogenetic subgroup associated with unusual histologic features. Genes Chromosomes Cancer. 2006;45:304-312.
11. Esteller M, Garcia A, Martinez i Palones JM, Cabero A, Reventos J. Detection of c-erbB-2/neu and fibroblast growth factor-3/INT-2 but not epidermal growth factor receptor gene amplification in endometrial cancer by differential polymerase chain reaction. Cancer. 1995; 75:2139-2146.
12. Salawu A, Ul-Hassan A, Hammond D, Fernando M, Reed M, Sisley K. High quality genomic copy number data from archival formalin-fixed paraffin-embedded leiomyosarcoma: optimisation of universal linkage system labelling. PLoS One. 2012;7:e50415.
13. Wang T, Zhang X, Obijuru L, et al. A micro-RNA signature associated with race, tumor size, and target gene activity in human uterine leiomyomas. Genes Chromosomes Cancer. 2007;46:336-347.
14. Danielson LS, Menendez S, Attolini CS, et al. A differentiationbased microRNA signature identifies leiomyosarcoma as a mesenchymal stem cell-related malignancy. Am J Pathol. 2010;177:908-917.
15. Chang TC, Wentzel EA, Kent OA, et al. Transactivation of miR-34a by p53 broadly influences gene expression and promotes apoptosis. Mol Cell. 2007;26:745-752.
16. Vogelstein B, Kinzler KW. p53 function and dysfunction. Cell. 1992;70:523-526.
17. Hollstein M, Sidransky D, Vogelstein B, Harris CC. p53 mutations in human cancers. Science. 1991;253:49-53.
18. Hu J, Khanna V, Jones M, Surti U. Genomic alterations in uterine leiomyosarcomas: potential markers for clinical diagnosis and prognosis. Genes Chromosomes Cancer. 2001;31:117-124.
19. Makinen N, Mehine M, Tolvanen J, et al. MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science. 2011;334:252-255.
20. Makinen N, Heinonen HR, Moore S, Tomlinson IP, van der Spuy ZM, Aaltonen LA. MED12 exon 2 mutations are common in uterine leiomyomas from South African patients. Oncotarget. 2011;2: 966-969.
21. McGuire MM, Yatsenko A, Hoffner L, Jones M, Surti U, Rajkovic A. Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas. PLoS One. 2012;7:e33251.
22. Perot G, Croce S, Ribeiro A, et al. MED12 Alterations in both human benign and malignant uterine soft tissue tumors. PLoS One. 2012;7:e40015.
23. Je EM, Kim MR, Min KO, Yoo NJ, Lee SH. Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. Int J Cancer. 2012;131:E1044-E1047.
24. Markowski DN, Bartnitzke S, Loning T, Drieschner N, Helmke BM, Bullerdiek J. MED12 mutations in uterine fibroids - their relationship to cytogenetic subgroups. Int J Cancer. 2012;131:1528-1536.
25. Kampjarvi K, Makinen N, Kilpivaara O, et al. Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. Br J Cancer. 2012;107:1761-1765.
26. Ravegnini G, Marino-Enriquez A, Slater J, et al. MED12 mutations in leiomyosarcoma and extrauterine leiomyoma. Mod Pathol. 2013; 26:743-749.
27. Schwetye KE, Pfeifer JD, Duncavage EJ. MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors. Hum Pathol 2014;45:65-70.
28. de Graaff MA, Cleton-Jansen AM, Szuhai K, Bovee JV. Mediator complex subunit 12 exon 2 mutation analysis in different subtypes of smooth muscle tumors confirms genetic heterogeneity. Hum Pathol. 2013;44:1597-1604.
29. Matsubara A, Sekine S, Yoshida M, et al. Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours. Histopathology. 2013;62:657-661.
30. Makinen N, Vahteristo P, Kampjarvi K, Arola J, Butzow R, Aaltonen LA. MED12 exon 2 mutations in histopathological uterine leiomyoma variants. Eur J Hum Genet. 2013;21:1300-1303.
31. Bertsch E, Qiang W, Zhang Q, et al. MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma [published online ahead of print January 3, 2014]. Mod Pathol. doi: 10.1038/modpathol.2013.243.
32. Quade BJ, Pinto AP, Howard DR, Peters WA 3rd, Crum CP. Frequent loss of heterozygosity for chromosome 10 in uterine leiomyosarcoma in contrast to leiomyoma. Am J Pathol. 1999;154:945-950.
33. El-Rifai W, Sarlomo-Rikala M, Knuutila S, Miettinen M. DNA copy number changes in development and progression in leiomyosarcomas of soft tissues. Am J Pathol. 1998;153:985-990.
34. Levy B, Mukherjee T, Hirschhorn K. Molecular cytogenetic analysis of uterine leiomyoma and leiomyosarcoma by comparative genomic hybridization. Cancer Genet Cytogenet. 2000;121:1-8.
35. Hu J, Rao UN, Jasani S, Khanna V, Yaw K, Surti U. Loss of DNA copy number of 10q is associated with aggressive behavior of leiomyosarcomas: a comparative genomic hybridization study. Cancer Genet Cytogenet. 2005;161:20-27.
36. Raish M, Khurshid M, Ansari MA, et al. Analysis of molecular cytogenetic alterations in uterine leiomyosarcoma by array-based comparative genomic hybridization. J Cancer Res Clin Oncol. 2012;138: 1173-1186.
37. Burd EM. Human papillomavirus and cervical cancer. Clin Microbiol Rev. 2003;16:1-17.
38. Yachida S, Jones S, Bozic I, et al. Distant metastasis occurs late during the genetic evolution of pancreatic cancer. Nature. 2010;467: 1114-1117.
39. Ito M, Barys L, O'Reilly T, et al. Comprehensive mapping of p53 pathway alterations reveals an apparent role for both SNP309 and MDM2 amplification in sarcomagenesis. Clin Cancer Res. 2011;17: 416-426.
40. Miyajima K, Tamiya S, Oda Y, et al. Relative quantitation of p53 and MDM2 gene expression in leiomyosarcoma; real-time semiquantitative reverse transcription-polymerase chain reaction. Cancer Lett. 2001;164:177-188.
41. Zhai YL, Nikaido T, Orii A, Horiuchi A, Toki T, Fujii S. Frequent occurrence of loss of heterozygosity among tumor suppressor genes in uterine leiomyosarcoma. Gynecol Oncol. 1999;75:453-459.
42. Hall KL, Teneriello MG, Taylor RR, et al. Analysis of Ki-ras, p53, and MDM2 genes in uterine leiomyomas and leiomyosarcomas. Gynecol Oncol. 1997;65:330-335.
43. de Vos S, Wilczynski SP, Fleischhacker M, Koeffler P. p53 alterations in uterine leiomyosarcomas versus leiomyomas. Gynecol Oncol. 1994;54:205-208.
44. Jeffers MD, Farquharson MA, Richmond JA, McNicol AM. p53 immunoreactivity and mutation of the p53 gene in smooth muscle tumours of the uterine corpus. J Pathol. 1995;177:65-70.
45. Patterson H, Gill S, Fisher C, et al. Abnormalities of the p53 MDM2 and DCC genes in human leiomyosarcomas. Br J Cancer. 1994;69:1052-1058.