Literature DB >> 27241109

Laboratory Assays in Evaluation of Lynch Syndrome in Patients with Endometrial Carcinoma.

Bojana Djordjevic1, Russell R Broaddus2.   

Abstract

This article reviews the main tissue testing modalities for Lynch Syndrome in the pathology laboratory, such as immunohistochemistry and PCR based analyses, and discusses their routine application, interpretation pitfalls, and troubleshooting of common technical performance issues. Discrepancies between laboratory and genetic testing may arise, and are examined in the context of the complexity of molecular abnormalities associated with Lynch Syndrome. The merits of targeted versus universal screening in a changing healthcare climate are addressed. In the absence of comprehensive screening programs, specific tumor topography and histological features that may prompt pathologist-initiated molecular tumor testing are outlined.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Endometrial cancer; Lynch syndrome; Molecular diagnostic testing

Mesh:

Substances:

Year:  2016        PMID: 27241109      PMCID: PMC5548190          DOI: 10.1016/j.path.2016.01.007

Source DB:  PubMed          Journal:  Surg Pathol Clin        ISSN: 1875-9157


  71 in total

1.  Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years.

Authors:  Celine H M Leenen; Margot G F van Lier; Helena C van Doorn; Monique E van Leerdam; Sjarlot G Kooi; Judith de Waard; Robert F Hoedemaeker; Ans M W van den Ouweland; Sanne M Hulspas; Hendrikus J Dubbink; Ernst J Kuipers; Anja Wagner; Winand N M Dinjens; Ewout W Steyerberg
Journal:  Gynecol Oncol       Date:  2012-02-01       Impact factor: 5.482

2.  Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

Authors:  Heather Hampel; Wendy Frankel; Jenny Panescu; Janet Lockman; Kaisa Sotamaa; Daniel Fix; Ilene Comeras; Jennifer La Jeunesse; Hidewaki Nakagawa; Judith A Westman; Thomas W Prior; Mark Clendenning; Pamela Penzone; Janet Lombardi; Patti Dunn; David E Cohn; Larry Copeland; Lynne Eaton; Jeffrey Fowler; George Lewandowski; Luis Vaccarello; Jeffrey Bell; Gary Reid; Albert de la Chapelle
Journal:  Cancer Res       Date:  2006-08-01       Impact factor: 12.701

3.  Gynecologic cancer as a "sentinel cancer" for women with hereditary nonpolyposis colorectal cancer syndrome.

Authors:  Karen H Lu; Mai Dinh; Wendy Kohlmann; Patrice Watson; Jane Green; Sapna Syngal; Prathap Bandipalliam; Lee-May Chen; Brian Allen; Peggy Conrad; Jonathan Terdiman; Charlotte Sun; Molly Daniels; Thomas Burke; David M Gershenson; Henry Lynch; Patrick Lynch; Russell R Broaddus
Journal:  Obstet Gynecol       Date:  2005-03       Impact factor: 7.661

4.  MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers.

Authors:  S B Simpkins; T Bocker; E M Swisher; D G Mutch; D J Gersell; A J Kovatich; J P Palazzo; R Fishel; P J Goodfellow
Journal:  Hum Mol Genet       Date:  1999-04       Impact factor: 6.150

5.  Synchronous primary neoplasms of the female reproductive tract.

Authors:  R F Eisner; R K Nieberg; J S Berek
Journal:  Gynecol Oncol       Date:  1989-06       Impact factor: 5.482

6.  Risk of cancer in cases of suspected lynch syndrome without germline mutation.

Authors:  María Rodríguez-Soler; Lucía Pérez-Carbonell; Carla Guarinos; Pedro Zapater; Adela Castillejo; Victor M Barberá; Miriam Juárez; Xavier Bessa; Rosa M Xicola; Juan Clofent; Luis Bujanda; Francesc Balaguer; Josep-Maria Reñé; Luisa de-Castro; José C Marín-Gabriel; Angel Lanas; Joaquín Cubiella; David Nicolás-Pérez; Alejandro Brea-Fernández; Sergi Castellví-Bel; Cristina Alenda; Clara Ruiz-Ponte; Angel Carracedo; Antoni Castells; Montserrat Andreu; Xavier Llor; José L Soto; Artemio Payá; Rodrigo Jover
Journal:  Gastroenterology       Date:  2013-01-24       Impact factor: 22.682

7.  Microsatellite instability and alteration of the expression of hMLH1 and hMSH2 in ovarian clear cell carcinoma.

Authors:  Kathy Qi Cai; Constance Albarracin; Daniel Rosen; Rocksheng Zhong; Wenxin Zheng; Rajyalakshmi Luthra; Russell Broaddus; Jinsong Liu
Journal:  Hum Pathol       Date:  2004-05       Impact factor: 3.466

8.  Performance characteristics of screening strategies for Lynch syndrome in unselected women with newly diagnosed endometrial cancer who have undergone universal germline mutation testing.

Authors:  Sarah E Ferguson; Melyssa Aronson; Aaron Pollett; Lua R Eiriksson; Amit M Oza; Steven Gallinger; Jordan Lerner-Ellis; Zahra Alvandi; Marcus Q Bernardini; Helen J MacKay; Golnessa Mojtahedi; Alicia A Tone; Christine Massey; Blaise A Clarke
Journal:  Cancer       Date:  2014-07-31       Impact factor: 6.860

9.  Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability.

Authors:  Shannon A Kuismanen; Anu-Liisa Moisio; Pascal Schweizer; Kaspar Truninger; Reijo Salovaara; Johanna Arola; Ralf Butzow; Josef Jiricny; Minna Nyström-Lahti; Päivi Peltomäki
Journal:  Am J Pathol       Date:  2002-06       Impact factor: 4.307

10.  Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.

Authors:  Sigurdis Haraldsdottir; Heather Hampel; Jerneja Tomsic; Wendy L Frankel; Rachel Pearlman; Albert de la Chapelle; Colin C Pritchard
Journal:  Gastroenterology       Date:  2014-09-03       Impact factor: 22.682

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  2 in total

Review 1.  Validation of Immunohistochemical Assays for Integral Biomarkers in the NCI-MATCH EAY131 Clinical Trial.

Authors:  Joseph D Khoury; Wei-Lien Wang; Victor G Prieto; L Jeffrey Medeiros; Neda Kalhor; Meera Hameed; Russell Broaddus; Stanley R Hamilton
Journal:  Clin Cancer Res       Date:  2017-08-24       Impact factor: 12.531

Review 2.  Screening and identification of Lynch syndrome: a systematic review of the frequency of Lynch syndrome-associated clinicopathologic and molecular characteristics in Lynch syndrome gynecologic cancers.

Authors:  Zihui Yang; Xinyu Liu; Xi Yang; Qin-Ping Liao
Journal:  Transl Cancer Res       Date:  2021-10       Impact factor: 1.241

  2 in total

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