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Volumn 211, Issue 9, 2015, Pages 657-664

A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix

Author keywords

Appendiceal mucinous neoplasm; GNAS; KRAS; Mismatch repair gene; Mutation; TP53

Indexed keywords

B RAF KINASE; BETA CATENIN; K RAS PROTEIN; PROTEIN MLH1; PROTEIN MSH2; PROTEIN P53; TELOMERASE REVERSE TRANSCRIPTASE; CTNNB1 PROTEIN, HUMAN; GNAS PROTEIN, HUMAN; KRAS PROTEIN, HUMAN; PROTEIN P21; STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; TELOMERASE; TERT PROTEIN, HUMAN; TP53 PROTEIN, HUMAN; TUMOR MARKER;

EID: 84938751113     PISSN: 03440338     EISSN: 16180631     Source Type: Journal    
DOI: 10.1016/j.prp.2015.06.004     Document Type: Article
Times cited : (39)

References (36)
  • 2
    • 77953184058 scopus 로고    scopus 로고
    • Appendiceal mucinous neoplasms
    • Misdraji J. Appendiceal mucinous neoplasms. Arch. Pathol. Lab. Med. 2010, 134:864-870.
    • (2010) Arch. Pathol. Lab. Med. , vol.134 , pp. 864-870
    • Misdraji, J.1
  • 3
    • 79960215680 scopus 로고    scopus 로고
    • Ki-ras gene mutations are invariably present in low-grade mucinous tumors of the vermiform appendix
    • Zauber P., Berman E., Marotta S., Sabbath-Solitare M., Bishop T. Ki-ras gene mutations are invariably present in low-grade mucinous tumors of the vermiform appendix. Scand. J. Gastroenterol. 2011, 46:869-874.
    • (2011) Scand. J. Gastroenterol. , vol.46 , pp. 869-874
    • Zauber, P.1    Berman, E.2    Marotta, S.3    Sabbath-Solitare, M.4    Bishop, T.5
  • 4
    • 0036089446 scopus 로고    scopus 로고
    • Mucinous and nonmucinous appendiceal adenocarcinomas: different clinicopathological features but similar genetic alterations
    • Kabbani W., Houlihan P.S., Luthra R., Hamilton S.R., Rashid A. Mucinous and nonmucinous appendiceal adenocarcinomas: different clinicopathological features but similar genetic alterations. Mod. Pathol. 2002, 15:599-605.
    • (2002) Mod. Pathol. , vol.15 , pp. 599-605
    • Kabbani, W.1    Houlihan, P.S.2    Luthra, R.3    Hamilton, S.R.4    Rashid, A.5
  • 6
    • 0036311223 scopus 로고    scopus 로고
    • Epithelial neoplasms of the appendix and colorectum: an analysis of cell proliferation, apoptosis, and expression of p53, CD44, bcl-2
    • Carr N.J., Emory T.S., Sobin L.H. Epithelial neoplasms of the appendix and colorectum: an analysis of cell proliferation, apoptosis, and expression of p53, CD44, bcl-2. Arch. Pathol. Lab. Med. 2002, 126:837-841.
    • (2002) Arch. Pathol. Lab. Med. , vol.126 , pp. 837-841
    • Carr, N.J.1    Emory, T.S.2    Sobin, L.H.3
  • 7
    • 84873729543 scopus 로고    scopus 로고
    • Kras mutations and p53 overexpression in pseudomyxoma peritonei: association with phenotype and prognosis
    • Shetty S., Thomas P., Ramanan B., Sharma P., Govindarajan V., Loggie B. Kras mutations and p53 overexpression in pseudomyxoma peritonei: association with phenotype and prognosis. J. Surg. Res. 2013, 180:97-103.
    • (2013) J. Surg. Res. , vol.180 , pp. 97-103
    • Shetty, S.1    Thomas, P.2    Ramanan, B.3    Sharma, P.4    Govindarajan, V.5    Loggie, B.6
  • 9
    • 37349110287 scopus 로고    scopus 로고
    • A comprehensive study of nondysplastic and dysplastic serrated polyps of the vermiform appendix
    • Yantiss R.K., Panczykowski A., Misdraji J., Hahn H.P., Odze R.D., Rennert H., et al. A comprehensive study of nondysplastic and dysplastic serrated polyps of the vermiform appendix. Am. J. Surg. Pathol. 2007, 31:1742-1753.
    • (2007) Am. J. Surg. Pathol. , vol.31 , pp. 1742-1753
    • Yantiss, R.K.1    Panczykowski, A.2    Misdraji, J.3    Hahn, H.P.4    Odze, R.D.5    Rennert, H.6
  • 10
    • 81355147439 scopus 로고    scopus 로고
    • Determining the site of origin of mucinous adenocarcinoma: an immunohistochemical study of 175 cases
    • Chu P.G., Chung L., Weiss L.M., Lau S.K. Determining the site of origin of mucinous adenocarcinoma: an immunohistochemical study of 175 cases. Am. J. Surg. Pathol. 2011, 35:1830-1836.
    • (2011) Am. J. Surg. Pathol. , vol.35 , pp. 1830-1836
    • Chu, P.G.1    Chung, L.2    Weiss, L.M.3    Lau, S.K.4
  • 12
    • 84892590846 scopus 로고    scopus 로고
    • Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system
    • Koelsche C., Sahm F., Capper D., Reuss D., Sturm D., Jones D.T., et al. Distribution of TERT promoter mutations in pediatric and adult tumors of the nervous system. Acta Neuropathol. 2013, 126:907-915.
    • (2013) Acta Neuropathol. , vol.126 , pp. 907-915
    • Koelsche, C.1    Sahm, F.2    Capper, D.3    Reuss, D.4    Sturm, D.5    Jones, D.T.6
  • 13
    • 84899908886 scopus 로고    scopus 로고
    • TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas
    • Melo M., da Rocha A.G., Vinagre J., Batista R., Peixoto J., Tavares C., et al. TERT promoter mutations are a major indicator of poor outcome in differentiated thyroid carcinomas. J. Clin. Endocrinol. Metab. 2014, 99:E754-E765.
    • (2014) J. Clin. Endocrinol. Metab. , vol.99 , pp. E754-E765
    • Melo, M.1    da Rocha, A.G.2    Vinagre, J.3    Batista, R.4    Peixoto, J.5    Tavares, C.6
  • 14
    • 84886390673 scopus 로고    scopus 로고
    • TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism
    • Rachakonda P.S., Hosen I., de Verdier P.J., Fallah M., Heidenreich B., Ryk C., et al. TERT promoter mutations in bladder cancer affect patient survival and disease recurrence through modification by a common polymorphism. Proc. Natl. Acad. Sci. U.S.A. 2013, 110:17426-17431.
    • (2013) Proc. Natl. Acad. Sci. U.S.A. , vol.110 , pp. 17426-17431
    • Rachakonda, P.S.1    Hosen, I.2    de Verdier, P.J.3    Fallah, M.4    Heidenreich, B.5    Ryk, C.6
  • 16
    • 84876067164 scopus 로고    scopus 로고
    • TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
    • Killela P.J., Reitman Z.J., Jiao Y., Bettegowda C., Agrawal N., Diaz L.A., et al. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc. Natl. Acad. Sci. U.S.A. 2013, 110:6021-6026.
    • (2013) Proc. Natl. Acad. Sci. U.S.A. , vol.110 , pp. 6021-6026
    • Killela, P.J.1    Reitman, Z.J.2    Jiao, Y.3    Bettegowda, C.4    Agrawal, N.5    Diaz, L.A.6
  • 18
    • 0029036049 scopus 로고
    • Pseudomyxoma peritonei in women: a clinicopathologic analysis of 30 cases with emphasis on site of origin, prognosis, and relationship to ovarian mucinous tumors of low malignant potential
    • Ronnett B.M., Kurman R.J., Zahn C.M., Shmookler B.M., Jablonski K.A., Kass M.E., Sugarbaker P.H. Pseudomyxoma peritonei in women: a clinicopathologic analysis of 30 cases with emphasis on site of origin, prognosis, and relationship to ovarian mucinous tumors of low malignant potential. Hum. Pathol. 1995, 26:509-524.
    • (1995) Hum. Pathol. , vol.26 , pp. 509-524
    • Ronnett, B.M.1    Kurman, R.J.2    Zahn, C.M.3    Shmookler, B.M.4    Jablonski, K.A.5    Kass, M.E.6    Sugarbaker, P.H.7
  • 19
    • 3242731490 scopus 로고    scopus 로고
    • Pseudomyxoma peritonei usually originates from the appendix: a review of the evidence
    • Mukherjee A., Parvaiz A., Cecil T.D., Moran B.J. Pseudomyxoma peritonei usually originates from the appendix: a review of the evidence. Eur. J. Gynaecol. Oncol. 2004, 25:411-414.
    • (2004) Eur. J. Gynaecol. Oncol. , vol.25 , pp. 411-414
    • Mukherjee, A.1    Parvaiz, A.2    Cecil, T.D.3    Moran, B.J.4
  • 20
    • 0025285138 scopus 로고
    • A new constitutively activating mutation of the Gs protein alpha subunit-gsp oncogene is found in human pituitary tumours
    • Clememti E., Malgaretti N., Meldolesi J., Taramelli R. A new constitutively activating mutation of the Gs protein alpha subunit-gsp oncogene is found in human pituitary tumours. Oncogene 1990, 5:1059-1061.
    • (1990) Oncogene , vol.5 , pp. 1059-1061
    • Clememti, E.1    Malgaretti, N.2    Meldolesi, J.3    Taramelli, R.4
  • 21
    • 34247623164 scopus 로고    scopus 로고
    • A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone
    • Idowu B.D., Al-Adnani M., O'Donnell P., Yu L., Odell E., Diss T., et al. A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology 2007, 50:691-704.
    • (2007) Histopathology , vol.50 , pp. 691-704
    • Idowu, B.D.1    Al-Adnani, M.2    O'Donnell, P.3    Yu, L.4    Odell, E.5    Diss, T.6
  • 22
    • 67349149683 scopus 로고    scopus 로고
    • GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma
    • Delaney D., Diss T.C., Presneau N., Hing S., Berisha F., Idowu B.D., et al. GNAS1 mutations occur more commonly than previously thought in intramuscular myxoma. Mod. Pathol. 2009, 22:718-724.
    • (2009) Mod. Pathol. , vol.22 , pp. 718-724
    • Delaney, D.1    Diss, T.C.2    Presneau, N.3    Hing, S.4    Berisha, F.5    Idowu, B.D.6
  • 23
    • 84864744918 scopus 로고    scopus 로고
    • Frequent activating GNAS mutations in villous adenoma of the colorectum
    • Yamada M., Sekine S., Ogawa R., Taniguchi H., Kushima R., Tsuda H., et al. Frequent activating GNAS mutations in villous adenoma of the colorectum. J. Pathol. 2012, 228:113-118.
    • (2012) J. Pathol. , vol.228 , pp. 113-118
    • Yamada, M.1    Sekine, S.2    Ogawa, R.3    Taniguchi, H.4    Kushima, R.5    Tsuda, H.6
  • 24
    • 84859757956 scopus 로고    scopus 로고
    • Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas
    • Furukawa T., Kuboi Y., Tanji E., Yoshida S., Hatori T., Yamamoto M., et al. Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas. Sci. Rep. 2011, 1:161.
    • (2011) Sci. Rep. , vol.1 , pp. 161
    • Furukawa, T.1    Kuboi, Y.2    Tanji, E.3    Yoshida, S.4    Hatori, T.5    Yamamoto, M.6
  • 25
    • 84891458825 scopus 로고    scopus 로고
    • GNAS and KRAS mutations are common in intraductal papillary neoplasms of the bile duct
    • Sasaki M., Matsubara T., Nitta T., Sato Y., Nakanuma Y. GNAS and KRAS mutations are common in intraductal papillary neoplasms of the bile duct. PLoS One 2013, 8:e81706.
    • (2013) PLoS One , vol.8 , pp. e81706
    • Sasaki, M.1    Matsubara, T.2    Nitta, T.3    Sato, Y.4    Nakanuma, Y.5
  • 26
    • 84902545370 scopus 로고    scopus 로고
    • Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin
    • Alakus H., Babicky M.L., Ghosh P., Yost S., Jepsen K., Dai Y., et al. Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin. Genome Med. 2014, 6:43.
    • (2014) Genome Med. , vol.6 , pp. 43
    • Alakus, H.1    Babicky, M.L.2    Ghosh, P.3    Yost, S.4    Jepsen, K.5    Dai, Y.6
  • 27
    • 84904621566 scopus 로고    scopus 로고
    • GNAS is frequently mutated in both low-grade and high-grade disseminated appendiceal mucinous neoplasms but does not affect survival
    • Singhi A.D., Davison J.M., Choudry H.A., Pingpank J.F., Ahrendt S.A., Holtzman M.P., et al. GNAS is frequently mutated in both low-grade and high-grade disseminated appendiceal mucinous neoplasms but does not affect survival. Hum. Pathol. 2014, 45:1737-1743.
    • (2014) Hum. Pathol. , vol.45 , pp. 1737-1743
    • Singhi, A.D.1    Davison, J.M.2    Choudry, H.A.3    Pingpank, J.F.4    Ahrendt, S.A.5    Holtzman, M.P.6
  • 28
    • 84903707574 scopus 로고    scopus 로고
    • Molecular profiling of appendiceal epithelial tumors using massively parallel sequencing to identify somatic mutations
    • Liu X., Mody K., de Abreu F.B., Pipas J.M., Peterson J.D., Gallagher T.L., et al. Molecular profiling of appendiceal epithelial tumors using massively parallel sequencing to identify somatic mutations. Clin. Chem. 2014, 60:1004-1011.
    • (2014) Clin. Chem. , vol.60 , pp. 1004-1011
    • Liu, X.1    Mody, K.2    de Abreu, F.B.3    Pipas, J.M.4    Peterson, J.D.5    Gallagher, T.L.6
  • 29
    • 84876570838 scopus 로고    scopus 로고
    • The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis
    • Leroy B., Fournier J.L., Ishioka C., Monti P., Inga A., Fronza G., Soussi T. The TP53 website: an integrative resource centre for the TP53 mutation database and TP53 mutant analysis. Nucleic Acids Res. 2013, 41:D962-D969.
    • (2013) Nucleic Acids Res. , vol.41 , pp. D962-D969
    • Leroy, B.1    Fournier, J.L.2    Ishioka, C.3    Monti, P.4    Inga, A.5    Fronza, G.6    Soussi, T.7
  • 30
    • 84926186861 scopus 로고    scopus 로고
    • Clinicopathologic and molecular analysis of disseminated appendiceal mucinous neoplasms: identification of factors predicting survival and proposed criteria for a three-tiered assessment of tumor grade
    • Davison J.M., Choudry H.A., Pingpank J.F., Ahrendt S.A., Holtzman M.P., Zureikat A.H., Zeh H.J., Ramalingam L., Zhu B., Nikiforova M., Bartlett D.L., Pai R.K. Clinicopathologic and molecular analysis of disseminated appendiceal mucinous neoplasms: identification of factors predicting survival and proposed criteria for a three-tiered assessment of tumor grade. Mod. Pathol. 2014, 27:1521-1539.
    • (2014) Mod. Pathol. , vol.27 , pp. 1521-1539
    • Davison, J.M.1    Choudry, H.A.2    Pingpank, J.F.3    Ahrendt, S.A.4    Holtzman, M.P.5    Zureikat, A.H.6    Zeh, H.J.7    Ramalingam, L.8    Zhu, B.9    Nikiforova, M.10    Bartlett, D.L.11    Pai, R.K.12
  • 31
    • 68249087325 scopus 로고    scopus 로고
    • Differential protein immunoexpression profiles in appendiceal mucinous neoplasms: a special reference to classification and predictive factors
    • Yoon S.O., Kim B.H., Lee H.S., Kang G.H., Kim W.H., Kim Y.A., et al. Differential protein immunoexpression profiles in appendiceal mucinous neoplasms: a special reference to classification and predictive factors. Mod. Pathol. 2009, 22:1102-1112.
    • (2009) Mod. Pathol. , vol.22 , pp. 1102-1112
    • Yoon, S.O.1    Kim, B.H.2    Lee, H.S.3    Kang, G.H.4    Kim, W.H.5    Kim, Y.A.6
  • 32
    • 84913616338 scopus 로고    scopus 로고
    • GNAS mutation as an alternative mechanism of activation of the Wnt/β-catenin signaling pathway in gastric adenocarcinoma of the fundic gland type
    • Nomura R., Saito T., Mitomi H., Hidaka Y., Lee S.Y., Watanabe S., et al. GNAS mutation as an alternative mechanism of activation of the Wnt/β-catenin signaling pathway in gastric adenocarcinoma of the fundic gland type. Hum. Pathol. 2014, 45:2488-2496.
    • (2014) Hum. Pathol. , vol.45 , pp. 2488-2496
    • Nomura, R.1    Saito, T.2    Mitomi, H.3    Hidaka, Y.4    Lee, S.Y.5    Watanabe, S.6
  • 33
    • 27644590943 scopus 로고    scopus 로고
    • Discriminating functional and non-functional p53 in human tumours by p53 and MDM2 immunohistochemistry
    • Nenutil R., Smardova J., Pavlova S., Hanzelkova Z., Muller P., Fabian P., et al. Discriminating functional and non-functional p53 in human tumours by p53 and MDM2 immunohistochemistry. J. Pathol. 2005, 207:251-259.
    • (2005) J. Pathol. , vol.207 , pp. 251-259
    • Nenutil, R.1    Smardova, J.2    Pavlova, S.3    Hanzelkova, Z.4    Muller, P.5    Fabian, P.6
  • 34
    • 27544461589 scopus 로고    scopus 로고
    • Immunohistochemical expressions of cytokeratins, mucin core proteins, p53, and neuroendocrine cell markers in epithelial neoplasm of appendix
    • Yajima N., Wada R., Yamagishi S., Mizukami H., Itabashi C., Yagihashi S. Immunohistochemical expressions of cytokeratins, mucin core proteins, p53, and neuroendocrine cell markers in epithelial neoplasm of appendix. Hum. Pathol. 2005, 36:1217-1225.
    • (2005) Hum. Pathol. , vol.36 , pp. 1217-1225
    • Yajima, N.1    Wada, R.2    Yamagishi, S.3    Mizukami, H.4    Itabashi, C.5    Yagihashi, S.6
  • 35
    • 0027371614 scopus 로고
    • The abnormal p53 proteins expressed in CML cell lines are non-functional
    • Bi S., Lanza F., Goldman J.M. The abnormal p53 proteins expressed in CML cell lines are non-functional. Leukemia 1993, 7:1840-1845.
    • (1993) Leukemia , vol.7 , pp. 1840-1845
    • Bi, S.1    Lanza, F.2    Goldman, J.M.3
  • 36
    • 0036725855 scopus 로고    scopus 로고
    • Molecular and genetic characterization of a non-metastatic human esophageal cancer cell line, T.Tn expressing non-functional mutated p53
    • Sakai T., Furihata T., Kawamata H., Omotehara F., Shinagawa Y., Imura J., et al. Molecular and genetic characterization of a non-metastatic human esophageal cancer cell line, T.Tn expressing non-functional mutated p53. Int. J. Oncol. 2002, 21:547-552.
    • (2002) Int. J. Oncol. , vol.21 , pp. 547-552
    • Sakai, T.1    Furihata, T.2    Kawamata, H.3    Omotehara, F.4    Shinagawa, Y.5    Imura, J.6


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