595 Synchronous Occurence of Preneoplastic Lesions in the Upper Gastrointestinal Tract and Cancer in Patients With Lynch Syndrome

Hüneburg, Robert; Heling, Dominik; Marwitz, T; Vilz, Tim O.; Kalff, Jörg C.; Perne, Claudia; Spier, Isabel; Aretz, Stefan; Strassburg, Christian P.; Nattermann, Jacob

doi:10.1016/s0016-5085(20)31001-5

Cited by 3 publications

(4 citation statements)

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“…There is a lack of evidence that surveillance prevents extracolonic cancers, but current guidelines do include surveillance recommendations for some of the many extracolonic cancers associated with LS. 10 , 13 , 14 , 15 , 16 There is limited information on CRC and extracolonic cancer mortality in path_MMR carriers who receive colonoscopy surveillance. Providing new data on mortality was the focus of this study.…”

Section: Introductionmentioning

confidence: 99%

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Dominguez‐Valentin¹,

Haupt²,

Seppälä³

et al. 2023

eClinicalMedicine

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Section: Introductionmentioning

confidence: 99%

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Dominguez‐Valentin¹,

Haupt²,

Seppälä³

et al. 2023

eClinicalMedicine

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“…Nevertheless, we have incorporated our data in the standard operating procedures for the centers of the German Consortium of Familial Intestinal Cancer, recommending upper GI‐endoscopy in LS patients for surveillance of GC and DC starting at age 25 years and repeating it every 12 to 36 months. EGD and colonoscopy could be performed during one sedation as consecutive examinations thus offering GI‐cancer surveillance for LS patients as a “one‐stop‐shop” procedure 22,47 …”

Section: Discussionmentioning

confidence: 99%

“…30 Improving acquisition of survival information and of primary prevention by adenoma detection will, in the lance for LS patients as a "one-stop-shop" procedure. 22,47…”

Section: Follow-up Datamentioning

confidence: 99%

Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome

Vangala

Ladigan‐Badura

Engel

et al. 2021

Intl Journal of Cancer

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Small bowel cancer (SBC) is the malignancy with the highest standardized incidence ratio in Lynch syndrome (LS) patients. Of all SBCs, about 50% are duodenal cancers (DCs), therefore being accessible by esophago-gastro-duodenoscopy (EGD) for surveillance. We asked whether early detection of DC is possible for LS patients undergoing surveillance by EGD and if surveillance should be limited to specific subgroups.Data for LS patients with DC were retrieved from the registry of the German Consortium for Familial Intestinal Cancer. Patients undergoing active surveillance by EGDs (surveillance group) were compared to those who did not (nonsurveillance group) regarding tumor stage at diagnosis. Union for International Cancer Control stages I-IIA were defined as early stage disease and IIB-IV as advanced stage disease. Statistical analysis was performed using Fisher's exact test. Among 2015 patients with pathogenic variants in any mismatch-repair-gene, 47 patients with 49 DCs were identified. In 10% of cases, patients were under 35 years at diagnosis; family and personal tumor history did not correlate with DC diagnosis. Pathogenic germline variants in MSH6, PMS2 or EPCAM were present in 10% of patients. Statistical analysis could be performed on 13 DC patients in the surveillance group

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“…Lynch-Syndrom (LS) als Multitumorsyndrom vor. LS-Patienten unterliegen den bekannten Risiken für eine frühere Krebsentstehung und einem deutlich erhöhten Lebenszeitrisiko für bestimmte Tumorerkrankungen, insbesondere CRC, und somit der Notwendigkeit zu engmaschigeren Vorsorgeuntersuchungen [5,6]. Obwohl bei sporadischen und erblichen dMMR-/MSI-high-Tumoren prinzipiell der gleiche Mechanismus betroffen ist, legen klinische und pathologische Daten biologische Unterschiede zwischen sporadischen und hereditären dMMR-/MSI-high-CRCs nahe [7,8].…”

Section: Dickdarmkrebs Mit Dmmr/msi-highunclassified

Neue medikamentöse Konzepte bei Patienten mit kolorektalen Karzinomen und Mikrosatelliteninstabilität

Vangala

Nilius‐Eliliwi

2023

Zentralbl Chir

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ZusammenfassungEtwa 15% aller Patienten mit kolorektalen Karzinomen zeigen eine hochgradige Mikrosatelliteninstabilität (MSI-high) im Tumorgewebe. Bei ca. ⅓ dieser Patienten liegt die Ursache an pathogenen Keimbahnvarianten der Mismatch-Reparaturgene, die zu einem Lynch-Syndrom führen. In Kombination mit klinischen Kriterien, wie den Amsterdam- oder revidierten Bethesda-Kriterien, diente ein MSI-high-Befund bislang vor allem der Identifikation von Risikopatienten. In der modernen Tumortherapie zeigt die Gruppe der MSI-high-Patienten jedoch über nahezu alle Tumorstadien hinweg Alleinstellungsmerkmale hinsichtlich der medikamentösen Tumortherapie. Nach wie vor gilt, dass MSI-high-Patienten im Stadium UICC II keine adjuvante Chemotherapie erhalten sollten. Während bei Patienten mit Fernmetastasen und MSI-high-Status Immuncheckpoint-Inhibitoren bereits in der Erstlinie regelhaft und erfolgreich eingesetzt werden, zeigen neue Daten sowohl bei lokal fortgeschrittenen Kolon- als auch bei Rektumkarzinomen im präoperativen Setting ein tiefes Ansprechen. Gerade für Rektumkarzinompatienten könnte hier ein neues therapeutisches Verfahren ohne neoadjuvante Chemotherapie und möglicherweise sogar ohne operative Versorgung etabliert werden – bei guter Verträglichkeit und Senkung der Morbidität. Demzufolge ist die universelle MSI-Testung sowohl zur Identifikation von Risikopatienten als auch zur Therapieplanung bereits heute unerlässlich.

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595 Synchronous Occurence of Preneoplastic Lesions in the Upper Gastrointestinal Tract and Cancer in Patients With Lynch Syndrome

Cited by 3 publications

References 0 publications

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Early detection of duodenal cancer by upper gastrointestinal‐endoscopy in Lynch syndrome

Neue medikamentöse Konzepte bei Patienten mit kolorektalen Karzinomen und Mikrosatelliteninstabilität

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