Colorectal Adenomas in Young Patients: Microsatellite Instability is not a Useful Marker to Detect New Cases of Lynch Syndrome

Ferreira, Sara; Claro, Isabel; Lage, Pedro; Filipe, Bruno; Fonseca, Ricardo Roberto de Souza; Sousa, Rita; Francisco, Inês; Chaves, Paula; Albuquerque, Cristina; Leitão, C. Nobre

doi:10.1007/s10350-008-9224-5

Cited by 19 publications

(11 citation statements)

References 31 publications

(34 reference statements)

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“…Follow-up studies revealed this patient to be an MSH6 mutation carrier (case 3 in Table 3). While the evidence for testing polyps is equivocal [25][26][27], this case demonstrates that it may be warranted if there is an indication of family history of cancer.…”

Section: Discussionmentioning

confidence: 80%

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

et al. 2011

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Section: Discussionmentioning

confidence: 80%

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

et al. 2011

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“…A limitation of the study is that it does not provide any information on the usefulness of adenoma immunohistochemistry as a screening test for young onset population-based adenomas. A previous study has suggested that an approach using microsatellite instability as a screening test is likely to produce a low yield 9 . The increasing recognition of the role of family history in determining risk has lead to increased colorectal cancer screening.…”

Section: Discussionmentioning

confidence: 99%

“…Today, screening for Lynch syndrome can be achieved through immunostaining for mismatch repair proteins in a spectrum of Lynch syndrome-associated cancers including those of the colorectum, but it remains unclear if screening of colonic adenomas is of value for the idenitification of patients with Lynch syndrome. Screening of early-onset adenomas for mismatch repair deficiency in order to diagnose Lynch syndrome in the population has yielded disappointing results 9 , suggesting that more focused testing should be evaluated. Not all Lynch syndrome adenomas found in mismatch repair mutation carriers show loss of immunostaining, and there is considerable variation in the literature about the frequency of loss of mismatch repair protein expression in this setting 8, 10–13 .…”

Section: Introductionmentioning

confidence: 99%

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

Walsh

Buchanan²,

Pearson³

et al. 2012

Modern Pathology

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Debate continues as to the usefulness of assessing adenomas for loss of mismatch repair protein expression to identify individuals with suspected Lynch syndrome. We tested 109 polyps from 69 proven mutation carriers (35 females and 34 males) belonging to 49 Lynch syndrome families. All polyps were tested by immunohistochemistry for four mismatch repair proteins MLH1, MSH2, MSH6 and PMS2. Detailed pathology review was performed by specialist gastrointestinal pathologists. The majority of polyps (86%) were conventional adenomas (n = 94), with 65 tubular and 28 tubulovillous adenomas and a single villous adenoma. The remaining 15 lesions (14%) were serrated polyps. Overall, loss of mismatch repair expression was noted for 78/109 (72%) of polyps. Loss of mismatch repair expression was seen in 74 of 94 (79%) conventional adenomas, and 4/15 (27%) serrated polyps from mismatch repair gene mutation carriers. In all instances, loss of expression was consistent with the underlying germline mutation. mismatch repair protein expression was lost in 27 of 29 adenomas with a villous component compared with 47 of 65 adenomas without this feature (93% vs 73%; p=0.028). A strong trend was observed for high-grade dysplasia. mismatch repair deficiency was observed in 12 of 12 conventional adenomas with high-grade dysplasia compared with 60 of 79 with low grade dysplasia (100% vs 76%; p=0.065). We were unable to demonstrate a significant association between conventional adenoma size or site and mismatch repair deficiency. All (4/4 or 100%) of the serrated polyps demonstrating mismatch repair deficiency were traditional serrated adenomas from a single family. Diagnostic testing of adenomas in suspected Lynch syndrome families is a useful alternative in cases where cancers are unavailable. The overwhelming majority of conventional adenomas from mutation carriers show loss of mismatch repair protein expression concordant with the underlying germline mutation.

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“…Clinical suspicion is of paramouth importance in the diagnosis of LS. Moreover, Ferreiara reported that to detect new cases of LS, family history is more important than microsatellite instability testing for adenomas of young patients (23). There is potentially a high risk of metachronous colorectal cancer if an initial cancer in a LS patient (defined according to Amsterdam criteria) is treated by partial colectomy.…”

Section: Discussionmentioning

confidence: 99%

Lynch Syndrome; A Tale of Two Cases Sharing The Same Destiny with Metachronous Tumor Development

Çakmak¹,

Gençoğlu²,

Sever³

et al. 2017

MJWBS

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Lynch syndrome (LS), is an autosomal dominant disease, accounts for approximately 1 to 2 percent of all colorectal cancers. Individuals with LS tend to develop cancers at a relatively young age and are at risk of multiple synchronous and metachronous malignancies. Several clinical criteria have been identified to assist in diagnosing LS. Subtotal or total colectomy is the procedure of choice for these patients as a result of high risk of multiplicity of lesions and metachronous tumors in time and colonoscopic surveillance is strictly recommended. Nevertheless, when the diagnosis of LS is neglected and the cancer is regarded as sporadic and treated accordingly, patients experience insufficient surgical interventions associated with metachronous malignancies, just like these two cases we report herein. The exact identification of the cases might decrease the number of misdiagnosis in this way and might decline the metachronous tumor development, with resulting in decreased morbidity, increased life quality, and improved survival. The article herein aimed to underline the importance of basic medical examination and colonoscopic surveillance that all of the clinicians dealing with cancer treatment should be aware of and the responsibility of surgical education centers on teaching the principles of cancer management to forthcoming surgeons during residancy. © 2017 Bulent Ecevit University All rights reserved. Gönderilme Tarihi: 20.11.2016 Düzeltme 02.01.2017 Kabul: 05.03.2017 Lynch Sendromu (LS) otozomal dominant bir hastalık olup tüm kolorektal kanserlerin %1-2' sini oluşturmaktadır. LS'li bireyler göreceli olarak genç yaşta kanser gelişimine yatkındır ve multipl senkron ve metakron malignite gelişme riski altındalardır. LS tanısı koymaya yardımcı birkaç klinik kriter tanımlanmıştır. Multipl lezyonlar ve metakron tümörlerin zamanla yüksek risk olması nedeniyle bu hastalar için prosedür seçimi total ya da subtotal kolektomidir ve kolonoskopik takip şiddetle önerilmektedir. Fakat LS tanısı atlandığında ve kanser sporadik olarak addedilip buna göre tedavi edildiğinde, bu sunumdaki vakalarda olduğu gibi, hastalar metakron malignitelerle ilişkili olarak yetersiz cerrahi girişimleri deneyimlemektedirler. Vakaların kesin olarak tanımlanması; bu yolla yanlış tanıların sayısını azaltacak; azalmış mortalite, artmış hayat kalitesi ve geliştirilmiş hayat beklentisi ile sonuçlanacak olan metakron tümör gelişimini azaltacaktır. Bu makalede temel muayene ve kolonoskopik takibin öneminin kanser tedavisi ile ilgilenen tüm klinisyenlerin farkında olması; ayrıca ihtisas sürecindeki cerrahlara eğitim altındayken kanser yönetiminin prensiplerini öğreten cerrahi eğitim merkezlerinin sorumluluğunun öneminin altının çizilmesi hedeflemiştir.

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Colorectal Adenomas in Young Patients: Microsatellite Instability is not a Useful Marker to Detect New Cases of Lynch Syndrome

Cited by 19 publications

References 31 publications

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry

Lynch Syndrome; A Tale of Two Cases Sharing The Same Destiny with Metachronous Tumor Development

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