Morphologic features of carcinomas with recurrent gene fusions

Advances in Anatomic Pathology

Volumn 19, Issue 6, 2012, Pages 417-424

  Qi, Mei ^a   Li, Yanjiang ^b   Liu, Jun ^b   Yang, Xiaoqing ^a   Wang, Lin ^a   Zhou, Zhiqiang ^c   Han, Bo ^a,c  

^a SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b QINGDAO UNIVERSITY MEDICAL COLLEGE   (China)

^c SHANDONG UNIVERSITY   (China)

Author keywords

Carcinoma; Gene fusion; Histology; Morphology

Indexed keywords

BIOLOGICAL MARKER; TRANSCRIPTION FACTOR ETS;

ALK GENE; BREAST CANCER; CANCER GENETICS; CARCINOMA; CYTOGENETICS; ELM4 GENE; ERG GENE; ETV6 GENE; GENE FUSION; GENE REARRANGEMENT; HUMAN; IMMUNOHISTOCHEMISTRY; LUNG CANCER; MOLECULAR PATHOLOGY; NTRK3 GENE; ONCOGENE; PAX8 GENE; PHENOTYPE; PPAR GAMMA RECEPTOR 1 GENE; PRIORITY JOURNAL; PROSTATE CANCER; PTC GENE; RET GENE; REVIEW; THYROID CANCER; TMPRSS2 GENE;

BREAST NEOPLASMS; CARCINOMA; FEMALE; GENE FUSION; HUMANS; LUNG NEOPLASMS; MALE; ONCOGENE PROTEINS, FUSION; PROSTATIC NEOPLASMS; PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS;

EID: 84867978403     PISSN: 10724109     EISSN: 15334031     Source Type: Journal    
DOI: 10.1097/PAP.0b013e318273baae     Document Type: Review

References (66)

1. Mitelman F, Johansson B, Mertens F. The impact of translocations and gene fusions on cancer causation. Nat Rev Cancer. 2007;7:233-245.
2. Tomlins SA, Rhodes DR, Perner S, et al. Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science. 2005;310:644-648.
3. Kumar-Sinha C, Tomlins SA, Chinnaiyan AM. Recurrent gene fusions in prostate cancer. Nat Rev Cancer. 2008;8:497-511.
4. Mano H. Non-solid oncogenes in solid tumors: EML4-ALK fusion genes in lung cancer. Cancer Sci. 2008;99:2349-2355.
5. Edwards PA. Fusion genes and chromosome translocations in the common epithelial cancers. J Pathol. 2010;220:244-254.
6. Mosquera JM, Perner S, Demichelis F, et al. Morphological features of TMPRSS2-ERG gene fusion prostate cancer. J Pathol. 2007;212:91-101.
7. Inamura K, Takeuchi K, Togashi Y, et al. EML4-ALK fusion is linked to histological characteristics in a subset of lung cancers. J Thorac Oncol. 2008;3:13-17.
8. Wong DW, Leung EL, So KK, et al. The EML4-ALK fusion gene is involved in various histologic types of lung cancers from nonsmokers with wild-type EGFR and KRAS. Cancer. 2009;115:1723-1733.
9. Jokoji R, Yamasaki T, Minami S, et al. Combination of morphological feature analysis and immunohistochemistry is useful for screening of EML4-ALK-positive lung adenocarcinoma. J Clin Pathol. 2010;63:1066-1070.
10. Tognon C, Knezevich SR, Huntsman D, et al. Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma. Cancer Cell. 2002;2:367-376.
11. Tomlins SA, Bjartell A, Chinnaiyan AM, et al. ETS gene fusions in prostate cancer: from discovery to daily clinical practice. Eur Urol. 2009;56:275-286.
12. Perner S, Demichelis F, Beroukhim R, et al. TMPRSS2:ERG fusion-associated deletions provide insight into the heterogeneity of prostate cancer. Cancer Res. 2006;66:8337-8341.
13. Tu JJ, Rohan S, Kao J, et al. Gene fusions between TMPRSS2 and ETS family genes in prostate cancer: frequency and transcript variant analysis by RT-PCR and FISH on paraffinembedded tissues. Mod Pathol. 2007;20:921-928.
14. Mosquera JM, Mehra R, Regan MM, et al. Prevalence of TMPRSS2-ERG fusion prostate cancer among men undergoing prostate biopsy in the United States. Clin Cancer Res. 2009;15:4706-4711.
15. Han B, Mehra R, Suleman K, et al. Characterization of ETS gene aberrations in select histologic variants of prostate carcinoma. Mod Pathol. 2009;22:1176-1185.
16. Guo CC, Dancer JY,Wang Y, et al. TMPRSS2-ERG gene fusion in small cell carcinoma of the prostate. Hum Pathol. 2011;42:11-17.
17. Lotan TL, Gupta NS, Wang W, et al. ERG gene rearrangements are common in prostatic small cell carcinomas. Mod Pathol. 2011;24:820-828.
18. Han B, Suleman K, Wang L, et al. ETS gene aberrations in atypical cribriform lesions of the prostate: implications for the distinction between intraductal carcinoma of the prostate and cribriform high-grade prostatic intraepithelial neoplasia. Am J Surg Pathol. 2010;34:478-485.
19. Robinson B, Magi-Galluzzi C, Zhou M. Intraductal carcinoma of the prostate. Arch Pathol Lab Med. 2012;136:418-425.
20. Park K, Tomlins SA, Mudaliar KM, et al. Antibody-based detection of ERG rearrangement-positive prostate cancer. Neoplasia. 2010;12:590-598.
21. van Leenders GJ, Boormans JL, Vissers CJ, et al. Antibody EPR3864 is specific for ERG genomic fusions in prostate cancer: implications for pathological practice. Mod Pathol. 2011;24:1128-1138.
22. He H, Magi-Galluzzi C, Li J, et al. The diagnostic utility of novel immunohistochemical marker ERG in the workup of prostate biopsies with "atypical glands suspicious for cancer". Am J Surg Pathol. 2011;35:608-614.
23. Palanisamy N, Ateeq B, Kalyana-Sundaram S, et al. Rearrangements of the RAF kinase pathway in prostate cancer, gastric cancer and melanoma. Nat Med. 2010;16:793-798.
24. Siegel R, Naishadham D, Jemal A. Cancer statistics, 2012. CA Cancer J Clin. 2012;62:10-29.
25. Soda M, Choi YL, Enomoto M, et al. Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. Nature. 2007;448:561-566.
26. Rikova K, Guo A, Zeng Q, et al. Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer. Cell. 2007;131:1190-1203.
27. Takeuchi K, Soda M, Togashi Y, et al. RET, ROS1 and ALK fusions in lung cancer. Nat Med. 2012;18:378-381.
28. Fukuyoshi Y, Inoue H, Kita Y, et al. EML4-ALK fusion transcript is not found in gastrointestinal and breast cancers. Br J Cancer. 2008;98:1536-1539.
29. Chaft JE, Rekhtman N, Ladanyi M, et al. ALK-rearranged lung cancer: adenosquamous lung cancer masquerading as pure squamous carcinoma. J Thorac Oncol. 2012;7:768-769.
30. Yoshida A, Tsuta K, Nakamura H, et al. Comprehensive histologic analysis of ALK-rearranged lung carcinomas. Am J Surg Pathol. 2011;35:1226-1234.
31. Rodig SJ, Mino-Kenudson M, Dacic S, et al. Unique clinicopathologic features characterize ALK-rearranged lung adenocarcinoma in the western population. Clin Cancer Res. 2009;15:5216-5223.
32. Shaw AT, Yeap BY, Mino-Kenudson M, et al. Clinical features and outcome of patients with non-small-cell lung cancer who harbor EML4-ALK. J Clin Oncol. 2009;27:4247-4253.
33. Sasaki T, Rodig SJ, Chirieac LR, et al. The biology and treatment of EML4-ALK non-small cell lung cancer. Eur J Cancer. 2010;46:1773-1780.
34. Mino-Kenudson M, Chirieac LR, Law K, et al. A novel, highly sensitive antibody allows for the routine detection of ALKrearranged lung adenocarcinomas by standard immunohistochemistry. Clin Cancer Res. 2010;16:1561-1571.
35. Reis-Filho JS, Lakhani SR. Breast cancer special types: why bother? J Pathol. 2008;216:394-398.
36. Weigelt B, Horlings HM, Kreike B, et al. Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol. 2008;216:141-150.
37. Makretsov N, He M, Hayes M, et al. A fluorescence in situ hybridization study of ETV6-NTRK3 fusion gene in secretory breast carcinoma. Genes Chromosomes Cancer. 2004;40:152-157.
38. Persson M, Andren Y, Mark J, et al. Recurrent fusion of MYB and NFIB transcription factor genes in carcinomas of the breast and head and neck. Proc Natl Acad Sci USA. 2009;106:18740-18744.
39. Inaki K, Hillmer AM, Ukil L, et al. Transcriptional consequences of genomic structural aberrations in breast cancer. Genome Res. 2011;21:676-687.
40. Sakarya O, Breu H, Radovich M, et al. RNA-seq mapping and detection of gene fusions with a suffix array algorithm. PLoS Comput Biol. 2012;8:e1002464.
41. Lae M, Freneaux P, Sastre-Garau X, et al. Secretory breast carcinomas with ETV6-NTRK3 fusion gene belong to the basal-like carcinoma spectrum. Mod Pathol. 2009;22:291-298.
42. Wetterskog D, Lopez-Garcia MA, Lambros MB, et al. Adenoid cystic carcinomas constitute a genomically distinct subgroup of triple-negative and basal-like breast cancers. J Pathol. 2012;226:84-96.
43. Brill LB II, Kanner WA, Fehr A, et al. Analysis of MYB expression and MYB-NFIB gene fusions in adenoid cystic carcinoma and other salivary neoplasms. Mod Pathol. 2011;24:1169-1176.
44. Mitani Y, Li J, Rao PH, et al. Comprehensive analysis of the MYB-NFIB gene fusion in salivary adenoid cystic carcinoma: incidence, variability, and clinicopathologic significance. Clin Cancer Res. 2010;16:4722-4731.
45. West RB, Kong C, Clarke N, et al. MYB expression and translocation in adenoid cystic carcinomas and other salivary gland tumors with clinicopathologic correlation. Am J Surg Pathol. 2011;35:92-99.
46. Hampton OA, Den Hollander P, Miller CA, et al. A sequencelevel map of chromosomal breakpoints in the MCF-7 breast cancer cell line yields insights into the evolution of a cancer genome. Genome Res. 2009;19:167-177.
47. Robinson DR, Kalyana-Sundaram S, Wu YM, et al. Functionally recurrent rearrangements of the MAST kinase and Notch gene families in breast cancer. Nat Med. 2011;17:1646-1651.
48. Tallini G, Asa SL. RET oncogene activation in papillary thyroid carcinoma. Adv Anat Pathol. 2001;8:345-354.
49. Nikiforov YE, Rowland JM, Bove KE, et al. Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children. Cancer Res. 1997;57:1690-1694.
50. Santoro M, Chiappetta G, Cerrato A, et al. Development of thyroid papillary carcinomas secondary to tissue-specific expression of the RET/PTC1 oncogene in transgenic mice. Oncogene. 1996;12:1821-1826.
51. Adeniran AJ, Zhu Z, Gandhi M, et al. Correlation between genetic alterations and microscopic features, clinical manifestations, and prognostic characteristics of thyroid papillary carcinomas. Am J Surg Pathol. 2006;30:216-222.
52. Ciampi R, Knauf JA, Kerler R, et al. Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer. J Clin Invest. 2005;115:94-101.
53. Kroll TG, Sarraf P, Pecciarini L, et al. PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected]. Science. 2000;289:1357-1360.
54. Chia WK, Sharifah NA, Reena RM, et al. Fluorescence in situ hybridization analysis using PAX8- and PPARG-specific probes reveals the presence of PAX8-PPARG translocation and 3p25 aneusomy in follicular thyroid neoplasms. Cancer Genet Cytogenet. 2010;196:7-13.
55. Hibi Y, Nagaya T, Kambe F, et al. Is thyroid follicular cancer in Japanese caused by a specific t(2; 3)(q13; p25) translocation generating Pax8-PPAR gamma fusion mRNA? Endocr J. 2004;51:361-366.
56. Lui WO, Zeng L, Rehrmann V, et al. CREB3L2-PPARgamma fusion mutation identifies a thyroid signaling pathway regulated by intramembrane proteolysis. Cancer Res. 2008;68:7156-7164.
57. Kuroda N, Mikami S, Pan CC, et al. Review of renal carcinoma associated with Xp11.2 translocations/TFE3 gene fusions with focus on pathobiological aspect. Histol Histopathol. 2012;27:133-140.
58. Argani P, Antonescu CR, Illei PB, et al. Primary renal neoplasms with the ASPL-TFE3 gene fusion of alveolar soft part sarcoma: a distinctive tumor entity previously included among renal cell carcinomas of children and adolescents. Am J Pathol. 2001;159:179-192.
59. Argani P, Antonescu CR, Couturier J, et al. PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). Am J Surg Pathol. 2002;26:1553-1566.
60. Malouf GG, Camparo P, Molinie V, et al. Transcription factor E3 and transcription factor EB renal cell carcinomas: clinical features, biological behavior and prognostic factors. J Urol. 2011;185:24-29.
61. 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.
62. Chiosea SI, Griffith C, Assaad A, et al. Clinicopathological characterization of mammary analogue secretory carcinoma of salivary glands. Histopathology. 2012;61:387-394.
63. Skalova A, Vanecek T, Sima R, et al. Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion gene: a hitherto undescribed salivary gland tumor entity. Am J Surg Pathol. 2010;34:599-608.
64. Gu TL, Deng X, Huang F, et al. Survey of tyrosine kinase signaling reveals ROS kinase fusions in human cholangiocarcinoma. PLoS One. 2011;6:e15640.
65. Salzman J, Marinelli RJ, Wang PL, et al. ESRRA-C11orf20 is a recurrent gene fusion in serous ovarian carcinoma. PLoS Biol. 2011;9:e1001156.
66. Tao J, Deng NT, Ramnarayanan K, et al. CD44-SLC1A2 gene fusions in gastric cancer. Sci Transl Med. 2011;3:77ra30.