Impact of chromosome 17q deletion in the primary lesion of colorectal cancer on liver metastasis

Kawai, Masaya; Komiyama, Hiromitsu; Hosoya, Masaki; Okubo, Haruna; Fujii, Tomoaki; Yokoyama, Norihiko; Sato, Chiyo; Ueyama, Takae; Okuzawa, Atsushi; Goto, Michitoshi; Kojima, Yutaka; Takahashi, Makoto; Sugimoto, Kiichi; Ishiyama, Shun; Munakata, Shinya; Ogura, Dai; Niwa, Shin-ichiro; Tomiki, Yuichi; Ochiai, Takumi; Sakamoto, Kazuhiro

doi:10.3892/ol.2016.5271

Cited by 7 publications

(6 citation statements)

References 35 publications

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“…Moreover, in this study, we demonstrated the feasibility of accurate detection of LOH using MS. Since also other chromosome deletions could become relevant for glioma diagnosis, such as 10q loss in GBMs or 9p loss in ODGs [ 20 , 29 ], and, furthermore, deletions are also an important marker of genomic instability in other cancer types [ 40 – 42 ], the results using the MS approach in this study provide proof of principle for its future clinical application.…”

Section: Discussionmentioning

confidence: 88%

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

et al. 2017

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The World Health Organization recently revised the diagnosis of glioma, to integrate molecular parameters, including IDH mutations and codeletion (loss of heterozygosity; LOH) of chromosome arms 1p/19q, into the definitions of adult glioma histological subtypes. Mutations in the TERT promoter may also be useful for glioma diagnosis and prognosis. The integration of molecular markers into routine diagnosis requires their rapid and reliable assessment. We propose a MassARRAY (MS)-based test that can identify 1p/19q codeletion using quantitative SNP genotyping and, simultaneously, characterize hotspot mutations in the IDH1, IDH2, and TERT genes in tumor DNA. We determined the reliability of the MS approach testing 50 gliomas and comparing the MS results with those obtained by standard methods, such as short tandem repeat genotyping, array comparative genomic hybridization (array-CGH) and Fluorescence In Situ Hybridization (FISH) for 1p/19q codeletion and Sanger sequencing for hotspots mutations. The results indicate that MS is suitable for the accurate, rapid, and cost-effective evaluation of chromosome deletions combined with hotspot mutation detection. This MS approach could be similarly exploited in evaluation of LOH in other situations of clinical and/or research importance.

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Section: Discussionmentioning

confidence: 88%

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

et al. 2017

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“…Colorectal cancer (CRC) is the third most commonly diagnosed malignancy and the fourth most frequent cause of cancer-associated mortality worldwide [ 1 ]. Previous evidence has indicated that liver and lung metastases were quite common in metastatic CRC (mCRC), accounting for approximately 20–30% of all patients when initially diagnosed [ 2 ]. As the understanding of molecular mechanisms underlying tumorigenesis and progression of CRC develops, genetic analyses and targeted therapy have already become popular alternatives, representing a significant landmark towards individually tailored treatment.…”

Section: Introductionmentioning

confidence: 99%

Predictive and Prognostic Implications of Mutation Profiling and Microsatellite Instability Status in Patients with Metastatic Colorectal Carcinoma

Liu

Zeng

Huang

et al. 2018

Gastroenterology Research and Practice

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To investigate whether mutation profiling and microsatellite instability (MSI) status were associated with clinicopathological features and the prognosis in metastatic colorectal cancer (mCRC), mutations in RAS (including KRAS, NRAS, and HRAS) and BRAF were determined by Sanger sequencing. Tumor mismatch repair proteins and MSI status were examined using immunohistochemistry and polymerase chain reaction, respectively. The clinical value of these abnormalities was statistically analyzed, and prognostic value of different treatment regimens was also evaluated. Among 461 mCRC patients, mutations in RAS, BRAF, and MSI-high (MSI-H) status were observed in 45.3% (209/461), 5.6% (26/461), and 6.5% (30/461) of cases, respectively. Brain metastasis and high carcinoembryonic antigen level were highly correlated with KRAS mutation (P = 0.011 and P < 0.001), and tumors from females or located in the right colon tended to harbor BRAF mutation (P = 0.039 and P = 0.001). RAS/BRAF mutations may predict brain and/or lung metastases. Although neither clinical nor prognostic importance of MSI status was identified in our study, KRAS and BRAF mutations were demonstrated to be independent prognostic factors for overall survival and progression-free survival. Besides, in wild-type group, patients treated with chemotherapy plus targeted therapy exhibited the most favorable prognosis. Therefore, RAS/BRAF mutations may serve as indicators for prognosis and treatment options in mCRC.

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“…NM23 is a candidate gene on the 17q chromosomal region. Increased expression of NM23 is associated with a better prognosis in colorectal cancer and breast cancer, whereas deletion in the 17q chromosomal region predicts occurrence of liver metastasis in colorectal cancer [15].…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, meningiomas with gains of the 17q chromosomal region are also known to show a more aggressive behavior and a higher recurrence rate than meningiomas without this aberration. If there is an increased expression of the oncogene ERBB2 on the chromosomal region 17q, a shorter progression free survival in colorectal cancer is described [15, 16].…”

Section: Introductionmentioning

confidence: 99%

Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas

et al. 2019

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Objective Meningiomas are among the most frequent intracranial tumors. Although the majority of meningiomas can be cured by surgical resection, up to 20% of the patients develop an aggressive clinical course with tumor recurrence or progressive disease. Cytogenetically, meningiomas frequently harbour a normal karyotype or monosomy of chromosome 22 as the sole anomaly. However, progression of meningiomas is associated with a non-random pattern of secondary losses of the chromosomes and chromosomal regions 1p, 6, 10, 14, 18, and 19. There is evidence, that loss of chromosome 17 might be involved in the clonal cytogenetic evolution of recurrent meningiomas. The aim of this study was to determine the role of deletions in the 17q chromosomal region in patients with recurrent meningiomas. Results The authors retrospectively reviewed all patients that underwent repeated surgery for recurrent meningiomas between 1999 and 2015 at the Department of Neurosurgery of the Saarland University Hospital. Patients were included in this study if tumor samples from two or more different meningiomas were available. A total of 7 patients underwent repeated surgery for recurrent meningiomas (4 males, 3 females, mean age: 45.4 years at the date of surgery) between 1999 and 2015. Collectively, 22 biopsies were analyzed with FISH (fluorescence-in-situ-hybridization) for the chromosomal region 17q23.3. In 20/22 (90.1%) specimens, the tumor samples harboured a significant deletion in the chromosomal region 17q (range: 10 to 63% of the cells). In 3/3 (100%) cases, deletion in the 17q chromosomal region was detectable in the primary tumor. In the tumor evolution, there was no steady in- or decrease in the percentage of this deletion. Conclusion Deletion in the 17q chromosomal region was present in the patients’ primary tumors as well as in late recurrences. Overall, a significant deletion in the 17q chromosomal region was detected in 90.1% of the tumors. Thus, the authors assume that deletion in the 17q chromosomal region displays rather an early event in meningioma progression. Accordingly, deletion in the 17q chromosomal region might clinically serve as a potential early marker for malignancy and a higher risk for recurrence in meningiomas.

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Impact of chromosome 17q deletion in the primary lesion of colorectal cancer on liver metastasis

Cited by 7 publications

References 35 publications

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status

Predictive and Prognostic Implications of Mutation Profiling and Microsatellite Instability Status in Patients with Metastatic Colorectal Carcinoma

Deletions in the 17q chromosomal region and their influence on the clonal cytogenetic evolution of recurrent meningiomas

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