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• W2729952943 abstract "We appreciate the comments of Reis and colleagues.1Reis H. Niedworok C. Szarvas T. Response to: Absence of GNAS and BRAF mutations but presence of KRAS mutation in urachal adenocarcinoma.Pathology. 2017; 49: 561-562Abstract Full Text Full Text PDF Scopus (1) Google Scholar They provide an updated review of literature and underscore the clinical implication of those findings. In regard to their enquiry about the histological features of urachal adenocarcinoma, seven of 11 cases of our series contained mucinous and cystic components resembling pancreatic or appendiceal mucinous neoplasm in the entire or a significant portion of the tumours. While using Sanger sequencing we were not able to identify hotspot mutations of GNAS, BRAF and NRAS in urachal adenocarcinoma, it is not surprising that more mutations can be detected by state-of-the-art technologies such as whole exome sequencing and pyrosequencing. Table 1 summarises the recently described mutations in urachal adenocarcinoma,2Sirintrapun S.J. Ward M. Woo J. Cimic A. High-stage urachal adenocarcinoma can be associated with microsatellite instability and KRAS mutations.Hum Pathol. 2014; 45: 327-330Abstract Full Text Full Text PDF PubMed Scopus (45) Google Scholar, 3Collazo-Lorduy A. Castillo-Martin M. Wang L. et al.Urachal carcinoma shares genomic alterations with colorectal carcinoma and may respond to epidermal growth factor inhibition.Eur Urol. 2016; 70: 771-775Abstract Full Text Full Text PDF PubMed Scopus (52) Google Scholar, 4Loh K.P. Mondo E. Hansen E.A. et al.Targeted therapy based on tumor genomic analyses in metastatic urachal carcinoma.Clin Genitourin Cancer. 2016; 14: e449-e452Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar, 5Singh H. Liu Y. Xiao X. et al.Whole exome sequencing of urachal adenocarcinoma reveals recurrent NF1 mutations.Oncotarget. 2016; 7: 29211-29215PubMed Google Scholar, 6Cha S. Lee J. Shin J.Y. et al.Clinical application of genomic profiling to find druggable targets for adolescent and young adult (AYA) cancer patients with metastasis.BMC Cancer. 2016; 16: 170Crossref PubMed Scopus (26) Google Scholar, 7Modos O. Reis H. Niedworok C. et al.Mutations of KRAS, NRAS, BRAF, EGFR, and PIK3CA genes in urachal carcinoma: Occurence and prognostic significance.Oncotarget. 2016; 7: 39293-39301PubMed Google Scholar, 8Toubaji A. Jordan E.J. Desai N. et al.Genomic alterations in primary bladder adenocarcinoma and urachal adenocarcinoma.Mod Pathol. 2017; 30: 262A-263AGoogle Scholar, 9Hang J.F. Pan C.C. Absence of GNAS and BRAF mutations but presence of KRAS mutation in urachal adenocarcinoma.Pathology. 2017; 49: 316-317Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar mostly published after we submitted our manuscript. However, in contrast to the high frequency of GNAS mutation in pancreatic and appendiceal mucinous neoplasms, the overall incidence of GNAS mutation in urachal adenocarcinoma is low, indicating a different molecular oncogenesis, as Reis et al. have already commented.Table 1Summary of molecular changes of urachal adenocarcinoma in the literaturePublicationsYearMethodologyKRASBRAFNRASGNASP53EGFR amplificationSirintrapun et al.2Sirintrapun S.J. Ward M. Woo J. Cimic A. High-stage urachal adenocarcinoma can be associated with microsatellite instability and KRAS mutations.Hum Pathol. 2014; 45: 327-330Abstract Full Text Full Text PDF PubMed Scopus (45) Google Scholar2014Real-time PCR, targeted3/70/7NANANANACollazo-Lorduy et al.3Collazo-Lorduy A. Castillo-Martin M. Wang L. et al.Urachal carcinoma shares genomic alterations with colorectal carcinoma and may respond to epidermal growth factor inhibition.Eur Urol. 2016; 70: 771-775Abstract Full Text Full Text PDF PubMed Scopus (52) Google Scholar2016NGS, targeted2/100/101/101/108/101/10Loh et al.4Loh K.P. Mondo E. Hansen E.A. et al.Targeted therapy based on tumor genomic analyses in metastatic urachal carcinoma.Clin Genitourin Cancer. 2016; 14: e449-e452Abstract Full Text Full Text PDF PubMed Scopus (16) Google Scholar2016NGS, targeted1/10/10/11/11/10/1Singh et al.5Singh H. Liu Y. Xiao X. et al.Whole exome sequencing of urachal adenocarcinoma reveals recurrent NF1 mutations.Oncotarget. 2016; 7: 29211-29215PubMed Google Scholar2016NGS, whole exome2/70/70/70/74/70/7Cha et al.6Cha S. Lee J. Shin J.Y. et al.Clinical application of genomic profiling to find druggable targets for adolescent and young adult (AYA) cancer patients with metastasis.BMC Cancer. 2016; 16: 170Crossref PubMed Scopus (26) Google Scholar2016NGS, whole exome1/10/10/10/10/10/1Módos et al.7Modos O. Reis H. Niedworok C. et al.Mutations of KRAS, NRAS, BRAF, EGFR, and PIK3CA genes in urachal carcinoma: Occurence and prognostic significance.Oncotarget. 2016; 7: 39293-39301PubMed Google Scholar2016Pyrosequencing, targeted6/224/221/22NANANAToubaji et al.8Toubaji A. Jordan E.J. Desai N. et al.Genomic alterations in primary bladder adenocarcinoma and urachal adenocarcinoma.Mod Pathol. 2017; 30: 262A-263AGoogle Scholar2017NGS, targeted7/220/220/224/2217/221/22Hang and Pan9Hang J.F. Pan C.C. Absence of GNAS and BRAF mutations but presence of KRAS mutation in urachal adenocarcinoma.Pathology. 2017; 49: 316-317Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar2017Sanger, targeted5/120/120/120/12NANATotal27/82 (33%)4/82 (5%)2/75 (3%)6/53 (11%)30/41 (73%)2/41 (5%)NA, not available; NGS, next generation sequencing; PCR, polymerase chain reaction. Open table in a new tab NA, not available; NGS, next generation sequencing; PCR, polymerase chain reaction. In addition, an ethnic factor should be considered. Our study has been the only Asian series concerning the mutations in urachal adenocarcinoma to date. A study10Hang J.F. Li A.F. Chang S.C. Liang W.Y. Immunohistochemical detection of the BRAF V600E mutant protein in colorectal cancers in Taiwan is highly concordant with the molecular test.Histopathology. 2016; 69: 54-62Crossref PubMed Scopus (11) Google Scholar conducted in our institution has demonstrated a significantly lower incidence of BRAF mutations in colorectal cancer than those reported in Western series. Given the possible linkage between urachal and enteric cancers, the frequency of BRAF mutation in urachal adenocarcinoma may be likewise low in this geographical region. We await further investigations to validate our observations. The authors state that there are no conflicts of interest to disclose." @default.
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• W2729952943 title "Response to: Absence of GNAS and BRAF mutations but presence of KRAS mutation in urachal adenocarcinoma: author reply" @default.
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