Absence of microsatellite instability in mucinous carcinomas of the breast

International Journal of Clinical and Experimental Pathology

Volumn 4, Issue 1, 2011, Pages 22-31

  Lacroix Triki, Magali ^a,b   Lambros, Maryou B ^a   Geyer, Felipe C ^a   Suarez, Paula H ^a   Reis Filho, Jorge S ^a   Weigelt, Britta ^c  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b INSTITUT CLAUDIUS REGAUD   (France)

^c IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

Author keywords

Breast cancer; Genetics; Immunohistochemistry; Microsatellite instability; Mismatch repair; Mucinous carcinoma

Indexed keywords

ADENOSINE TRIPHOSPHATASE; DNA; DNA BINDING PROTEIN; G T MISMATCH BINDING PROTEIN; G-T MISMATCH-BINDING PROTEIN; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PMS2 PROTEIN, HUMAN; POLYDEOXYRIBONUCLEOTIDE SYNTHASE; PROTEIN MSH2; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR MARKER;

ARTICLE; BREAST TUMOR; CANCER STAGING; COLLOID CARCINOMA; FEMALE; GENETICS; HUMAN; IMMUNOHISTOCHEMISTRY; METABOLISM; MICRODISSECTION; MICROSATELLITE INSTABILITY; PAGET NIPPLE DISEASE; PATHOLOGY; TISSUE MICROARRAY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADENOCARCINOMA, MUCINOUS; ADENOSINE TRIPHOSPHATASES; BREAST NEOPLASMS; CARCINOMA, DUCTAL, BREAST; DNA REPAIR ENZYMES; DNA, NEOPLASM; DNA-BINDING PROTEINS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MICRODISSECTION; MICROSATELLITE INSTABILITY; MUTS HOMOLOG 2 PROTEIN; NEOPLASM STAGING; NUCLEAR PROTEINS; TISSUE ARRAY ANALYSIS; TUMOR MARKERS, BIOLOGICAL;

EID: 79955085940     PISSN: None     EISSN: 19362625     Source Type: Journal    
DOI: None     Document Type: Article

References (54)

1. Barkley CR, Ligibel JA, Wong JS, Lipsitz S, Smith BL, Golshan M. Mucinous breast carcinoma: a large contemporary series. Am J Surg. 2008;196:549-551.
2. Di Saverio S, Gutierrez J, Avisar E. A retrospective review with long term follow up of 11,400 cases of pure mucinous breast carcinoma. Breast Cancer Res Treat. 2008;111:541-547.
3. Li CI, Uribe DJ, Daling JR. Clinical characteristics of different histologic types of breast cancer. Br J Cancer. 2005;93:1046-1052.
4. Vo T, Xing Y, Meric-Bernstam F, Mirza N, Vlastos G, Symmans WF, Perkins GH, Buchholz TA, Babiera GV, Kuerer HM, Bedrosian I, Akins JS, Hunt KK. Long-term outcomes in patients with mucinous, medullary, tubular, and invasive ductal carcinomas after lumpectomy. Am J Surg. 2007;194:527-531.
5. Tavassoli FA, Devilee, P, ed. Tumours of the breast. Pathology and Genetics. Tumours fo the Breast and Female Genital Organs. 2003, International Agency for Research of Cancer (IARC): Lyon.
6. Lacroix-Triki M, Suarez PH, Mackay A, Lambros MB, Natrajan R, Savage K, Geyer FC, Weigelt B, Ashworth A, Reis-Filho JS. Mucinous carcinoma of the breast is genomically distinct from invasive ductal carcinomas of no special type. J Pathol. 2010;222:282-298.
7. Elston CW, Ellis IO. Pathological prognostic factors in breast cancer. I. The value of histological grade in breast cancer: experience from a large study with long-term follow-up. Histopathology. 1991;19:403-410.
8. Weigelt B, Geyer FC, Horlings HM, Kreike B, Halfwerk H, Reis-Filho JS. Mucinous and neuroendocrine breast carcinomas are transcriptionally distinct from invasive ductal carcinomas of no special type. Mod Pathol. 2009;22:1401-1414.
9. Weigelt B, Horlings HM, Kreike B, Hayes MM, Hauptmann M, Wessels LF, de Jong D, Van de Vijver MJ, Van't Veer LJ, Peterse JL. Refinement of breast cancer classification by molecular characterization of histological special types. J Pathol 2008;216:141-150.
10. Weigelt B, Reis-Filho JS. Histological and molecular types of breast cancer: is there a unifying taxonomy? Nat Rev Clin Oncol. 2009;6:718-730.
11. Sotiriou C, Pusztai L. Gene-expression signatures in breast cancer. N Engl J Med. 2009;360:790-800.
12. Weigelt B, Mackay A, A'Hern R, Natrajan R, Tan DS, Dowsett M, Ashworth A, Reis-Filho JS. Breast cancer molecular profiling with single sample predictors: a retrospective analysis. Lancet Oncol. 2010;11:339-349.
13. Reis-Filho JS, Weigelt B, Fumagalli D, Sotiriou C. Molecular profiling: moving away from tumor philately. Sci Transl Med. 2010;2:47ps43.
14. Weigelt B, Baehner FL, Reis-Filho JS. The contribution of gene expression profiling to breast cancer classification, prognostication and prediction: a retrospective of the last decade. J Pathol. 2010;220:263-280.
15. Bertucci F, Orsetti B, Negre V, Finetti P, Rouge C, Ahomadegbe JC, Bibeau F, Mathieu MC, Treilleux I, Jacquemier J, Ursule L, Martinec A, Wang Q, Bénard J, Puisieux A, Birnbaum D, Theillet C. Lobular and ductal carcinomas of the breast have distinct genomic and expression profiles. Oncogene. 2008;27:5359-5372.
16. Loo LW, Grove DI, Williams EM, Neal CL, Cousens LA, Schubert EL, Holcomb IN, Massa HF, Glogovac J, Li CI, Malone KE, Daling JR, Delrow JJ, Trask BJ, Hsu L, Porter PL. Array comparative genomic hybridization analysis of genomic alterations in breast cancer subtypes. Cancer Res. 2004;64:8541-8549.
17. Simpson PT, Reis-Filho JS, Gale T, Lakhani SR. Molecular evolution of breast cancer. J Pathol. 2005;205:248-254.
18. Abdel-Fatah TM, Powe DG, Hodi Z, Lee AH, Reis-Filho JS, Ellis IO. High frequency of coexistence of columnar cell lesions, lobular neoplasia, and low grade ductal carcinoma in situ with invasive tubular carcinoma and invasive lobular carcinoma. Am J Surg Pathol. 2007;31:417-426.
19. Abdel-Fatah TM, Powe DG, Hodi Z, Reis-Filho JS, Lee AH, Ellis IO. Morphologic and molecular evolutionary pathways of low nuclear grade invasive breast cancers and their putative precursor lesions: further evidence to support the concept of low nuclear grade breast neoplasia family. Am J Surg Pathol. 2008;32:513-523.
20. Lopez-Garcia MA, Geyer FC, Lacroix-Triki M, Marchio C, Reis-Filho JS. Breast cancer precursors revisited: molecular features and progression pathways. Histopathology. 2010;57:171-192.
21. Anbazhagan R, Fujii H, Gabrielson E. Microsatellite instability is uncommon in breast cancer. Clin Cancer Res. 1999;5:839-844.
22. Helland A, Borresen-Dale AL, Peltomaki P, Hektoen M, Kristensen GB, Nesland JM, de la Chapelle A, Lothe RA. Microsatellite instability in cervical and endometrial carcinomas. Int J Cancer. 1997;70:499-501.
23. Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn. 2008;10:293-300.
24. Thibodeau SN, Bren G, Schaid D. Microsatellite instability in cancer of the proximal colon. Science. 1993;260:816-819.
25. Xicola RM, Llor X, Pons E, Castells A, Alenda C, Pinol V, Andreu M, Castellvi-Bel S, Paya A, Jover R, Bessa X, Giros A, Duque JM, Nicolas-Perez D, Garcia AM, Rigau J, Gassull MA; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association. Performance of different microsatellite marker panels for detection of mismatch repair-deficient colorectal tumors. J Natl Cancer Inst. 2007;99:244-252.
26. Boland CR, Thibodeau SN, Hamilton SR, Sidransky D, Eshleman JR, Burt RW, Meltzer SJ, Rodriguez-Bigas MA, Fodde R, Ranzani GN, Srivastava S. A National Cancer Institute Workshop on Microsatellite Instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248-5257.
27. Halford SE, Sawyer EJ, Lambros MB, Gorman P, Macdonald ND, Talbot IC, Foulkes WD, Gillett CE, Barnes DM, Akslen LA, Lee K, Jacobs IJ, Hanby AM, Ganesan TS, Salvesen HB, Bodmer WF, Tomlinson IP, Roylance RR. MSI-low, a real phenomenon which varies in frequency among cancer types. J Pathol. 2003;201:389-394.
28. Tomlinson I, Halford S, Aaltonen L, Hawkins N, Ward R. Does MSI-low exist? J Pathol. 2002;197:6-13.
29. Boardman LA, Johnson RA, Petersen GM, Oberg AL, Kabat BF, Slusser JP, Wang L, Morlan BW, French AJ, Smyrk TC, Lindor NM, Thibodeau SN. Higher frequency of diploidy in young-onset microsatellite-stable colorectal cancer. Clin Cancer Res. 2007;13:2323-2328.
30. Derks S, Postma C, Carvalho B, van den Bosch SM, Moerkerk PT, Herman JG, Weijenberg MP, de Bruine AP, Meijer GA, van Engeland M. Integrated analysis of chromosomal, microsatellite and epigenetic instability in colorectal cancer identifies specific associations between promoter methylation of pivotal tumour suppressor and DNA repair genes and specific chromosomal alterations. Carcinogenesis. 2008;29:434-439.
31. Peltomaki P, Lothe RA, Aaltonen LA, Pylkkanen L, Nystrom-Lahti M, Seruca R, David L, Holm R, Ryberg D, Haugen A, Brogger A, Borresen AL, de la Chapelle A. Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res. 1993;53:5853-5855.
32. Pal T, Permuth-Wey J, Kumar A, Sellers TA. Systematic review and meta-analysis of ovarian cancers: estimation of microsatellite-high frequency and characterization of mismatch repair deficient tumor histology. Clin Cancer Res. 2008;14:6847-6854.
33. Shia J, Black D, Hummer AJ, Boyd J, Soslow RA. Routinely assessed morphological features correlate with microsatellite instability status in endometrial cancer. Hum Pathol. 2008;39:116-125.
34. Adem C, Soderberg CL, Cunningham JM, Reynolds C, Sebo TJ, Thibodeau SN, Hartmann LC, Jenkins RB. Microsatellite instability in hereditary and sporadic breast cancers. Int J Cancer. 2003;107:580-582.
35. Boland CR, Goel A. Microsatellite instability in colorectal cancer. Gastroenterology. 2010;138:2073-2087e3.
36. Raut CP, Pawlik TM, Rodriguez-Bigas MA. Clinicopathologic features in colorectal cancer patients with microsatellite instability. Mutat Res. 2004;568:275-282.
37. Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Clendenning M, Sotamaa K, Prior T, Westman JA, Panescu J, Fix D, Lockman J, LaJeunesse J, Comeras I, de la Chapelle A. Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 2008;26:5783-5788.
38. Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B. Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSIH colorectal cancer. PLoS One. 2010;5:e13314.
39. Poynter JN, Siegmund KD, Weisenberger DJ, Long TI, Thibodeau SN, Lindor N, Young J, Jenkins MA, Hopper JL, Baron JA, Buchanan D, Casey G, Levine AJ, Le Marchand L, Gallinger S, Bapat B, Potter JD, Newcomb PA, Haile RW, Laird PW; Colon Cancer Family Registry Investigators. Molecular characterization of MSI-H colorectal cancer by MLHI promoter methylation, immunohistochemistry, and mismatch repair germline mutation screening. Cancer Epidemiol Biomarkers Prev. 2008;17:3208-3215.
40. Dedes KJ, Lopez-Garcia MA, Geyer FC, Lambros MB, Savage K, Vatcheva R, Wilkerson P, Wetterskog D, Lacroix-Triki M, Natrajan R, Reis-Filho JS. Cortactin gene amplification and expression in breast cancer: a chromogenic in situ hybridisation and immunohistochemical study. Breast Cancer Res Treat. 2010.
41. Breast Cancer Res Treat. 2010;124:653-666.
42. Lambros MB, Natrajan R, Geyer FC, Lopez-Garcia MA, Dedes KJ, Savage K, Lacroix-Triki M, Jones RL, Lord CJ, Linardopoulos S, Ashworth A, Reis-Filho JS. PPM1D gene amplification and overexpression in breast cancer: a qRT-PCR and chromogenic in situ hybridization study. Mod Pathol. 2010;23:1334-45.
43. Dedes KJ, Natrajan R, Lambros MB, Geyer FC, Lopez-Garcia MA, Savage K, Jones RL, Reis-Filho JS. Down-regulation of the miRNA master regulators Drosha and Dicer is associated with specific subgroups of breast cancer. Eur J Cancer. 2010;epub ahead of print.
44. Marchio C, Iravani M, Natrajan R, Lambros MB, Savage K, Tamber N, Fenwick K, Mackay A, Senetta R, Di Palma S, Schmitt FC, Bussolati G, Ellis LO, Ashworth A, Sapino A, Reis-Filho JS. Genomic and immunophenotypical characterization of pure micropapillary carcinomas of the breast. J Pathol. 2008;215:398-410.
45. Natrajan R, Lambros MB, Rodriguez-Pinilla SM, Moreno-Bueno G, Tan DS, Marchio C, Vatcheva R, Rayter S, Mahler-Araujo B, Fulford LG, Hungermann D, Mackay A, Grigoriadis A, Fenwick K, Tamber N, Hardisson D, Tutt A, Palacios J, Lord CJ, Buerger H, Ashworth A, Reis-Filho JS. Tiling path genomic profiling of grade 3 invasive ductal breast cancers. Clin Cancer Res. 2009;15:2711-2722.
46. Natrajan R, Lambros MB, Geyer FC, Marchio C, Tan DS, Vatcheva R, Shiu KK, Hungermann D, Rodriguez-Pinilla SM, Palacios J, Ashworth A, Buerger H, Reis-Filho JS. Loss of 16q in high grade breast cancer is associated with estrogen receptor status: Evidence for progression in tumors with a luminal phenotype? Genes Chromosomes Cancer. 2009;48:351-365.
47. Marchio C, Iravani M, Natrajan R, Lambros MB, Geyer FC, Savage K, Parry S, Tamber N, Fenwick K, Mackay A, Schmitt FC, Bussolati G, Ellis I, Ashworth A, Sapino A, Reis-Filho JS. Mixed micropapillary-ductal carcinomas of the breast: a genomic and immunohistochemical analysis of morphologically distinct components. J Pathol. 2009;218:301-315.
48. Zhou XP, Hoang JM, Li YJ, Seruca R, Carneiro F, Sobrinho-Simoes M, Lothe RA, Gleeson CM, Russell SE, Muzeau F, Fléjou JF, Hoang-Xuan K, Lidereau R, Thomas G, Hamelin R. Determination of the replication error phenotype in human tumors without the requirement for matching normal DNA by analysis of mononucleotide repeat microsatellites. Genes Chromosomes Cancer. 1998;21:101-107.
49. Toyama T, Iwase H, Yamashita H, Iwata H, Yamashita T, Ito K, Hara Y, Suchi M, Kato T, Nakamura T, Kobayashi S. Microsatellite instability in sporadic human breast cancers. Int J Cancer. 1996;68:447-451.
50. Kakar S, Aksoy S, Burgart LJ, Smyrk TC. Mucinous carcinoma of the colon: correlation of loss of mismatch repair enzymes with clinicopathologic features and survival. Mod Pathol. 2004;17:696-700.
51. Messerini L, Vitelli F, De Vitis LR, Mori S, Calzolari A, Palmirotta R, Calabro A, Papi L. Microsatellite instability in sporadic mucinous colorectal carcinomas: relationship to clinico-pathological variables. J Pathol. 1997;182:380-384.
52. Ohwada M, Suzuki M, Saga Y, Sato I. DNA replication errors are frequent in mucinous cystadenocarcinoma of the ovary. Cancer Genet Cytogenet. 2000;117:61-65.
53. Lynch HT, Lynch PM, Lanspa SJ, Snyder CL, Lynch JF, Boland CR. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet. 2009;76:1-18.
54. Nielsen TO, Hsu FD, Jensen K, Cheang M, Karaca G, Hu Z, Hernandez-Boussard T, Livasy C, Cowan D, Dressler L, Akslen LA, Ragaz J, Gown AM, Gilks CB, van de Rijn M, Perou CM. Clin Cancer Res. 2004;10:5367-5374.