Genomic profiles and CRTC1-MAML2 fusion distinguish different subtypes of mucoepidermoid carcinoma

Modern Pathology

Volumn 26, Issue 2, 2013, Pages 213-222

  Jee, Kowan Ja ^a,b   Persson, Marta ^c   Heikinheimo, Kristiina ^a   Passador Santos, Fabricio ^b,d   Aro, Katri ^e   Knuutila, Sakari ^f   Odell, Edward W ^g   Mäkitie, Antti ^e   Sundelin, Kaarina ^c,h   Stenman, Göran ^c   Leivo, Ilmo ^a,b,f  

^a TURKU UNIVERSITY HOSPITAL   (Finland)

^b UNIVERSITY OF HELSINKI   (Finland)

^c UNIVERSITY OF GOTHENBURG   (Sweden)

^d SÃO LEOPOLDO MANDIC INSTITUTE AND RESEARCH CENTER   (Brazil)

^e UNIVERSITY OF HELSINKI   (Finland)

^f HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^g KING'S COLLEGE LONDON   (United Kingdom)

^h SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

arrayCGH; CDKN2A B; CRTC1 MAML2 fusion oncogene; genomic imbalances; histologic subtyping; mucoepidermoid carcinoma

Indexed keywords

ADENOSQUAMOUS CARCINOMA; ADULT; AGED; ARTICLE; CANCER GRADING; CHILD; CHROMOSOME 18Q; CHROMOSOME 6Q; CHROMOSOME 9P; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION PROFILING; GENE FUSION; HUMAN; HUMAN TISSUE; MALE; MOLECULAR GENETICS; ONCOGENE; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROGNOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SCHOOL CHILD; SCORING SYSTEM; TUMOR SUPPRESSOR GENE;

ADOLESCENT; ADULT; AGED; CARCINOMA, MUCOEPIDERMOID; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA-BINDING PROTEINS; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MALE; MIDDLE AGED; NUCLEAR PROTEINS; ONCOGENE PROTEINS, FUSION; PROGNOSIS; TRANSCRIPTION FACTORS;

EID: 84873410248     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2012.154     Document Type: Article

References (44)

1. Goode RK, Auclair PL, Ellis GL. Mucoepidermoid carcinoma of the major salivary glands: clinical and histopathologic analysis of 234 cases with evaluation of grading criteria. Cancer 1998;82:1217-1224.
2. Guzzo M, Andreola S, Sirizzotti G, et al. Mucoepider-moid carcinoma of the salivary glands: clinicopatho-logic review of 108 patients treated at the National Cancer Institute of Milan. Ann Surg Oncol 2002;9: 688-695.
3. Goode RK, El-Naggar AK. Mucoepidermoid carcinoma, In: Barnes L, Eveson JW, Reichart P, Sidransky D(eds) World Health Organization Classification of Tumours: Pathology and Genetics of Head and Neck Tumours. IARC Press: Lyon, France; 2005, pp 219-220.
4. Ellis GL, Auclair PL. AFIP Atlas of Tumor Pathology, Series 4, Fascicle 9. Tumors of the Salivary Glands. American Registry of Pathology: Washington, DC; 2008, pp 173-196.
5. Auclair PL, Goode RK, Ellis GL. Mucoepidermoid carcinoma of intraoral salivary gland. Evaluation and application of grading criteria in 143 cases. Cancer 1992;69:2021-2030.
6. Aro K, Leivo I, Mäkitie AA. Management and outcome of patients with mucoepidermoid carcinoma of major salivary gland origin: a single institution's 30-year experience. Laryngoscope 2008;118:258-262.
7. Seethala RR, Dacic S, Cieply K, et al. A reappraisal of the MECT1/MAML2 translocation in salivary muco-epidermoid carcinomas. Am J Surg Pathol 2010;34: 1106-1121.
8. Seifert G. Mucoepidermoid carcinoma in a salivary duct cyst of the parotid gland. Contribution to the development of tumours in salivary gland cysts. Pathol Res Pract 1996;192:1211-1217.
9. Skalova A, Lehtonen H, von Boguslawsky K, et al. Prognostic significance of cell proliferation in mucoe-pidermoid carcinomas of the salivary gland: clinico-pathological study using MIB 1 antibody in paraffin sections. Hum Pathol 1994;25:929-935.
10. Brandwein MS, Ivanov K, Wallace DI, et al. Mucoepi-dermoid carcinoma: a clinicopathologic study of 80 patients with special reference to histological grading. Am J Surg Pathol 2001;25:835-845.
11. Nance MA, Seethala RR, Wang Y, et al. Treatment and survival outcomes based on histologic grading in patients with head and neck mucoepidermoid carcinoma. Cancer 2008;113:2082-2089.
12. Miyabe S, Okabe M, Nagatsuka H, et al. Prognostic significance of p27Kip1, Ki-67, and CRTC1-MAML2 fusion transcript in mucoepidermoid carcinoma: a molecular and clinicopathologic study of 101 cases. J Oral Maxillofac Surg 2009;67:1432-1441.
13. Nordkvist A, Gustafsson H, Juberg-Ode M, et al. Recurrent rearrangements of 11q14-22 in muco-epidermoid carcinoma. Cancer Genet Cytogenet 1994;74: 77-83.
14. Mitelman F, Johansson B, Mertens F (eds.). Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer. http://cgap.nci.nih.gov/ Chromo-somes/Mitelman 2012.
15. Tonon G, Modi S, Wu L, et al. t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway. Nat Genet 2003;33:208-213.
16. Enlund F, Behboudi A, Andrén Y, et al. Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors. Exp Cell Res 2004; 292:21-28.
17. Coxon A, Rozenblum E, Park YS, et al. Mect1-Maml2 fusion oncogene linked to the aberrant activation of cyclic AMP/CREB regulated genes. Cancer Res 2005;65:7137-7144.
18. Wu L, Liu J, Gao P, et al. Transforming activity of MECT1-MAML2 fusion oncoprotein is mediated by constitutive CREB activation. EMBO J 2005;24: 2391-2402.
19. Behboudi A, Enlund F, Winnes M, et al. Molecular classification of mucoepidermoid carcinomas-prognostic significance of the MECT1-MAML2 fusion oncogene. Genes Chromosomes Cancer 2006;45: 470-481.
20. Okabe M, Miyabe S, Nagatsuka H, et al. MECT1-MAML2 fusion transcript defines a favorable subset of mucoepidermoid carcinoma. Clin Cancer Res 2006;12:3902-3907.
21. Tirado Y, Williams MD, Hanna EY, et al. CRTC1/MAML2 fusion transcript in high-grade mucoepider-moid carcinomas of salivary and thyroid glands and Warthin's tumors: implications for histogenesis and biologic behavior. Genes Chromosomes Cancer 2007; 46:708-715.
22. Möller E, Stenman G, Mandahl N, et al. POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands. J Pathol 2008;215:78-86.
23. Verdorfer I, Fehr A, Bullerdiek J, et al. Chromosomal imbalances, 11q21 rearrangement and MECT1-MAML2 fusion transcript in mucoepidermoid carcinomas of the salivary gland. Oncol Rep 2009;22: 305-311.
24. Anzick SL, Chen WD, Park Y, et al. Unfavorable prognosis of CRTC1-MAML2 positive mucoepider-moid tumors with CDKN2A deletions. Genes Chromosomes Cancer 2010;39:59-69.
25. Järvinen AK, Autio R, Kilpinen S, et al. Highresolution copy number and gene expression micro-array analyses of head and neck squamous cell carcinoma cell lines of tongue and larynx. Genes Chromosomes Cancer 2008;47:500-509.
26. Persson F, Winnes M, Andrén Y, et al. High-resolution array CGH analysis of salivary gland tumors reveals fusion and amplification of the FGFR1 and PLAG1 genes in ring chromosomes. Oncogene 2008;27: 3072-3080.
27. Iafrate AJ, Feuk L, Rivera MN, et al. Detection of large-scale variation in the human genome. Nat Genet 2004;36:949-951.
28. Winnes M, Mölne L, Suurküla M, et al. Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas. Genes Chromosomes Cancer 2007;46:559-563.
29. Komiya T, Park Y, Modi S, et al. Sustained expression of Mect1-Maml2 is essential for tumor cell growth in salivary gland cancers carrying the t(11;19) translocation. Oncogene 2006;25:6128-6132.
30. Fischer C, Mazzone M, Jonckx B, et al. FLT1 and its ligands VEGFB and PlGF: drug targets for anti-angiogenic therapy? Nat Rev Cancer 2008;8:942-956.
31. Tomshine JC, Severson SR, Wigle DA, et al. Cell proliferation and epidermal growth factor signaling in non-small cell lung adenocarcinoma cell lines are dependent on Rin1. J Biol Chem 2009;284:26331-26339.
32. Lopez-Bergami P, Lau E, Ronai Z. Emerging roles of ATF2 and the dynamic AP1 network in cancer. Nat Rev Cancer 2010;10:65-76.
33. Jen J, Kim H, Piantadosi S, et al. Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med 1994;331:213-221.
34. Hahn SA, Schutte M, Hoque AT, et al. DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1. Science 1996;271:350-353.
35. Takebayashi S, Hickson A, Ogawa T, et al. Loss of chromosome arm 18q with tumor progression in head and neck squamous cancer. Genes Chromosomes Cancer 2004;41:145-154.
36. Misawa K, Ueda Y, Kanazawa T, et al. Epigenetic inactivation of galanin receptor 1 in head and neck cancer. Clin Cancer Res 2008;14:7604-7613.
37. Rocco JW, Sidransky D. p16(MTS-1/CDKN2/INK4a) in cancer progression. Exp Cell Res 2001;264:42-55.
38. Baylin SB, Ohm JE. Epigenetic gene silencing in cancer-a mechanism for early oncogenic pathway addiction? Nat Rev Cancer 2006;6:107-116.
39. Brock MV, Hooker CM, Ota-Machida E, et al. DNA methylation markers and early recurrence in stage I lung cancer. N Engl J Med 2008;358:1118-1128.
40. van Duin M, van Marion R, Vissers KJ, et al. High-resolution array comparative genomic hybridization of chromosome 8q: evaluation of putative progression markers for gastroesophageal junction adenocarcinomas. Cytogenet Genome Res 2007;118: 130-137.
41. Parris TZ, Danielsson A, Nemes S, et al. Clinical implications of gene dosage and gene expression patterns in diploid breast carcinoma. Clin Cancer Res 2010;16:3860-3874.
42. Eychène A, Rocques N, Pouponnot C. A new MAFia in cancer. Nat Rev Cancer 2008;8:683-693.
43. Persson F, Andrén Y, Winnes M, et al. High-resolution genomic profiling of adenomas and carcinomas of the salivary glands reveals amplification, rearrangement, and fusion of HMGA2. Genes Chromosomes Cancer 2009;48:69-82.
44. Stenman G, Andersson MK, Andrén Y. New tricks from an old oncogene: gene fusion and copy number alterations of MYB in human cancer. Cell Cycle 2010;9:2986-2995.