Identification of new candidate genes and signalling pathways associated with the development of neuroendocrine pancreatic tumours based on next generation sequencing data

Trifanov, Vladimir; Petrusenko, Natalia A.; Gvaldin, Dmitry Yu.; Кутилин, Денис С.; Тимошкина, Н. Н.

doi:10.1007/s11033-020-05534-z

Cited by 3 publications

(2 citation statements)

References 68 publications

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“…In our study the majority of the specimens (55%, n = 16) were represented by NECs of the colon, but their MSI status was negative. However, there are reports confirming the MSI phenotype in 16%, 7%, 10%, and 14% of NECs of the colon, respectively [6,9,[17][18][19][20][21]. The analysis of the relevant literature suggests that the frequency of MSI could be higher among poorly differentiated NENs.…”

Section: Discussionmentioning

confidence: 99%

Microsatellite instability in colorectal neuroendocrine neoplasms

Meshcheryakova

Kolesnikov

Trifanov

et al. 2022

BRSMU

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Microsatellite instability (MSI) characterizes a special molecular genetic subtype of malignancies and is associated with the deficiency of mismatched DNA repair. There are no reliable data on the frequency of MSI in colorectal neuroendocrine neoplasms due to the relative rarity of this cancer type. The prognostic significance of MSI is debatable. The aim of this study was to investigate the frequency of the MSI phenotype among colorectal neuroendocrine neoplasms (NENs) with different primary location, grade and stage. Twenty-nine patients (15 men and 14 women, mean age: 62.5 years) included in the study underwent surgery for colorectal neuroendocrine tumors between 2015 and 2018. The mean follow-up period was 3.8 years. Colorectal NENs were grouped by primary location and stage. The majority of the patients (52%) had stage III cancer at diagnosis. The microsatellite stability (MSS) phenotype was confirmed in 24 patients (83%), whereas the MSI phenotype was observed in 5 patients (17%). All MSI-positive tumors were stage I well-differentiated grade G1 or G2 neuroendocrine tumors (NETs) of the rectum. Overall survival was 50% for patients with stage II MSS-positive NENs of the colon and rectum, 33% for stage III and 0% for stage IV. For patients with stage I MSI-positive NENs of the rectum, overall survival was 100%. Thus, the frequency of MSI-positive colorectal NENs was estimated.

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Section: Discussionmentioning

confidence: 99%

Microsatellite instability in colorectal neuroendocrine neoplasms

Meshcheryakova

Kolesnikov

Trifanov

et al. 2022

BRSMU

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“…В нашем исследовании большинство образцов были представлены НЭК толстой кишки (55%, n = 16), однако ни в одном из них не был зарегистрирован статус MSI. В то же время, согласно литературным данным, MSI-статус НЭК толстой кишки был подтвержден в 16, 7, 10 и 14% случаев соответственно [6,9,[17][18][19][20][21]…”

Section: обсуждение результатовunclassified

Mikrosatellitnaya nestabil'nost' v nejroendokrinnyh novoobrazovaniyah tolstoj kishki

Мещерякова¹,

Kolesnikov²,

Трифанов³

et al. 2022

Вестник РГМУ

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S narusheniem raboty sistemy reparacii nesparennyh osnovanij DNK svyazano ponyatie o mikrosatellitnoj nestabil'nosti (MSI), harakterizuyushchej osobyj molekulyarno-biologicheskij podtip zlokachestvennyh opuholej. Dostovernye dannye o chastote vstrechaemosti MSI v nejroendokrinnyh novoobrazovaniyah tolstoj kishki otsutstvuyut, chto svyazano s otnositel'no nebol'shim chislom pacientov. Svedeniya o prognosticheskoj znachimosti MSI takzhe protivorechivy. Cel'yu issledovaniya bylo izuchenie chastoty vstrechaemosti MSI v nejroendokrinnyh novoobrazovaniyah (NEN) tolstoj kishki v zavisimosti ot lokalizacii, stepeni differencirovki opuholi i stadii zabolevaniya. Vklyuchennye v issledovanie 29 pacientov byli prooperirovany v period s 2015 po 2018 g. po povodu nejroendokrinnyh novoobrazovanij tolstoj kishki (muzhchiny — 15 chelovek, zhenshchiny — 14 chelovek, srednij vozrast postanovki diagnoza — 62,5 let). Srednij srok nablyudeniya sostavil 3,8 let. NEN tolstoj kishki byli raspredeleny po lokalizaciyam, a takzhe po stadiyam zabolevaniya. U bol'shinstva pacientov, vklyuchennyh v issledovanie, byla diagnostirovana III stadiya zabolevaniya (52%). Status mikrosatellitnoj stabil'nosti (MSS) byl podtverzhden u 24 pacientov (83%), togda kak MSI-status — u pyati (17%) sootvetstvenno. Vse sluchai MSI-pozitivnyh novoobrazovanij sootvetstvovali vysokodifferencirovannym G1 i G2 nejroendokrinnym opuholyam pryamoj kishki na I stadii zabolevaniya. Obshchaya vyzhivaemost' pacientov s MSS-pozitivnymi NEN tolstoj kishki sostavila na II stadii 50%, na III — 33%, na IV stadii — 0%. Obshchaya vyzhivaemost' pacientov s MSI-pozitivnymi NEN pryamoj kishki na I stadii sostavila 100%. Takim obrazom, byla opredelena chastota vstrechaemosti MSI-pozitivnyh NEN tolstoj kishki.

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The Role of Molecular Genetic Studies in Current Oncology

Maksimov¹,

Dzhenkova²,

Тимошкина³

2022

Annals RAMS

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Genetic information, both inherited and tumor-specific, is becoming an increasingly important factor in the implementation of therapeutic strategies in oncology, providing an individual approach to each patient. Every year, an increasing number of achievements in medical genetics are introduced into oncological practice in the form of laboratory tests, diagnostic panels and practical recommendations. The article provides a brief overview of the results of genetic studies performed at the Federal National Medical Research Centre for Oncology of the Ministry of Health of the Russian Federation from the beginning of their implementation in 2013 to the present day. We have demonstrated not only testing data within the framework of clinical recommendations, but also an analysis of the search for new genetic, epigenetic and proteomic markers, which seem promising for the development of new target drugs, diagnostic and prognostic test systems. We believe that the model of interaction between a researcher and an oncologist used in our center allows us to shorten the path from a scientific hypothesis to the creation and implementation of innovative technologies.

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Identification of new candidate genes and signalling pathways associated with the development of neuroendocrine pancreatic tumours based on next generation sequencing data

Cited by 3 publications

References 68 publications

Microsatellite instability in colorectal neuroendocrine neoplasms

Microsatellite instability in colorectal neuroendocrine neoplasms

Mikrosatellitnaya nestabil'nost' v nejroendokrinnyh novoobrazovaniyah tolstoj kishki

The Role of Molecular Genetic Studies in Current Oncology

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