Microsatellite Instability and BRAF Mutation Testing in Colorectal Cancer Prognostication

Lochhead, Paul; Kuchiba, Aya; Imamura, Yu; Liao, Xiaoyun; Yamauchi, Mai; Nishihara, Reiko; Qian, Zhi Rong; Morikawa, Teppei; Shen, Jeanne; Meyerhardt, Jeffrey A.; Fuchs, Charles S.; Ogino, Shuji

doi:10.1093/jnci/djt173

Cited by 387 publications

(337 citation statements)

References 78 publications

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“…There is a link between BRAF V600E status and worse prognosis (36,37) and BRAF V600E and more advanced cancer, being mostly present in right-sided tumours (38,39). As discussed before, BRAF V600E has been found to interfere with KRAS occasionally.…”

Section: Discussionmentioning

confidence: 81%

KRAS Mutant Status, p16 and β-catenin Expression May Predict Local Recurrence in Patients Who Underwent Transanal Endoscopic Microsurgery (TEMS) for Stage I Rectal Cancer

Sideris

Moorhead

Díaz‐Cano

et al. 2016

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Abstract. Background The method of local excision, that has recently, gained wider acceptance, in early rectal cancer, is transanal endoscopic microsurgery (TEMS). TEMS generally offers advantages in operative access and oncological clearance over transanal resection (TAR), but recently a number of similar logic techniques with various rectal ports for endoscopic excision of rectal tumours has been invented. Those methods are collectively named transanal minimal-invasive surgery (TAMIS) and for oncological purposes they share the same features of local excision as TEMS (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14).TEMS is a minimally invasive technique that was introduced by Buess in the early 1980's (2). Through the new rectoscope with 3D binocular optic and the endoscopic instruments, it offers better access to proximal lesions with lower margin positivity and fragmentation and magnification of the operative field (2, 15). TEMS is a safe procedure that offers low complication rates and peri-operative morbidity (10.7%) (4). There have been multiple studies to suggest that TEMS is the operation of choice for rectal adenomas (1), retrorectal and submucosal rectal lesions (5). Furthermore, TEMS offers the advantage of not damaging the anorectal function (7).TEMS is indicated as a curative treatment for malignant neoplasms that are histologically confirmed as pT1 sm1 carcinomas, whereas T1 sm2-3 and T2 lesions are still under question (8). A number of studies have shown that TEMS can have comparable results with radical surgery (1,8,12,16) for rectal cancer.There has been concern about oncologic outcomes following TEMS (17). Some studies support that there is potentially a higher risk of local recurrence rate with TEMS (8,10,18). Efforts have been made to classify risk with morphological and histological criteria with better patients' selection (1, 6-9); however, the risk stratification remains 5315

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Section: Discussionmentioning

confidence: 81%

KRAS Mutant Status, p16 and β-catenin Expression May Predict Local Recurrence in Patients Who Underwent Transanal Endoscopic Microsurgery (TEMS) for Stage I Rectal Cancer

Sideris

Moorhead

Díaz‐Cano

et al. 2016

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“…54 In the absence of published data establishing an evidencebased recommendation, it is our expert consensus opinion that the above results, regardless of testing methods, be available from test ordering in the initial diagnostic pathology laboratory to the clinical team within 2 weeks (10 working days). The 10 working days does not include the time before the tissue specimen is available for testing (ie, from diagnostic procedure to receipt in laboratory) or time to retrieve tissue samples from an outside laboratory.…”

mentioning

confidence: 99%

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology

Sepulveda

Hamilton²,

Allegra

et al. 2017

Archives of Pathology &Amp; Laboratory Medicine

126

101

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Objectives.-To develop evidence-based guideline recommendations through a systematic review of the literature to establish standard molecular biomarker testing of colorectal cancer (CRC) tissues to guide epidermal growth factor receptor (EGFR) therapies and conventional chemotherapy regimens.Methods.-The American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology convened an expert panel to develop an evidence-based guideline to establish standard molecular biomarker testing and guide therapies for patients with CRC. A comprehensive literature search that included more than 4,000 articles was conducted.Results.-Twenty-one guideline statements were established.Conclusions.-Evidence supports mutational testing for EGFR signaling pathway genes, since they provide clinically actionable information as negative predictors of benefit to anti-EGFR monoclonal antibody therapies for targeted therapy of CRC. Mutations in several of the biomarkers have clear prognostic value. Laboratory approaches to operationalize CRC molecular testing are presented.

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“…77 BRAF V600E mutation status and MMR proficiency were both prognostic factors associated with shorter overall survival times. 77,81 Other studies using multi-gene expression tests have not been able to show predictive value. Thus, identifying the molecular characteristics of colon tumors most likely to benefit from chemotherapy and the development of targeted agents remain high priorities for clinical trial design.…”

Section: Issues In Specific Tumor Typesmentioning

confidence: 99%

NCCN Working Group Report: Designing Clinical Trials in the Era of Multiple Biomarkers and Targeted Therapies

Venook¹,

Arcila²,

Benson³

et al. 2014

J Natl Compr Canc Netw

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Defining treatment susceptible or resistant populations of cancer patients through the use of genetically defined biomarkers has revolutionized cancer care in recent years for some disease/patient groups. Research continues to show that histologically defined diseases are diverse in their expression of unique mutations or other genetic alterations, however, which presents both opportunities for the development of personalized cancer treatments, but increased difficulty in testing these therapies because potential patient populations are divided into ever-smaller numbers. To address some of the growing challenges in biomarker development and clinical trial design, NCCN assembled a group of experts across specialties and solid tumor disease types to begin to define the problems and to consider alternate ways of designing clinical trials in the era of multiple biomarkers and targeted therapies. Results from that discussion are presented, focusing on issues of clinical trial design from the perspective of statisticians, clinical researchers, regulators, pathologists and information developers.

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Microsatellite Instability and BRAF Mutation Testing in Colorectal Cancer Prognostication

Cited by 387 publications

References 78 publications

KRAS Mutant Status, p16 and β-catenin Expression May Predict Local Recurrence in Patients Who Underwent Transanal Endoscopic Microsurgery (TEMS) for Stage I Rectal Cancer

KRAS Mutant Status, p16 and β-catenin Expression May Predict Local Recurrence in Patients Who Underwent Transanal Endoscopic Microsurgery (TEMS) for Stage I Rectal Cancer

Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology

NCCN Working Group Report: Designing Clinical Trials in the Era of Multiple Biomarkers and Targeted Therapies

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