Familial occurrence of colon and uterine carcinoma and of lymphoproliferative malignancies.Clinical description

Law, Ivan P.; Herberman, Ronald B.; Oldham, Robert K.; Bouzoukis, James; Hanson, Stephen M.; Rhode, Marvin C.

doi:10.1002/1097-0142(197703)39:3<1224::aid-cncr2820390330>3.0.co;2-0

Cited by 24 publications

(3 citation statements)

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“…255,256,269 Development of lymphoid tumors such as ALL, CLL, and malignant lymphomas was also reported in human HNPCC kindreds. [270][271][272][273] These observations imply that defects in the mismatch repair apparatus may cause accumulation of mutations in key oncogenes or tumor suppressor genes as well as in microsatellite sequences, thus contributing to the development of tumors. 250,251,274 However, the proportion and spectrum of sporadic cancers associated with mutations in mismatch repair genes has not been clearly elucidated at this time.…”

Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Hatta

Koeffler

2002

Leukemia

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Section: Role Of Dna Mismatch Repair Genesmentioning

confidence: 99%

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Hatta

Koeffler

2002

Leukemia

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“…First described in hereditary nonpolyposis colorectal cancer (HNPCC) [16], microsatellite instability (MSI) represented by insertion/deletion mutations in simple repeated sequences, has been observed in a wide variety of sporadic human malignancies. Development of lymphoid tumors, such as acute lymphoblastic leukemia (ALL), chronic lymphocytic leukemia (CLL) and malignant lymphoma, has been reported in human HNPCC kindreds [17][18][19][20][21][22][23].…”

Section: Introductionmentioning

confidence: 99%

Reduced expression of human mismatch repair genes in adult T-cell leukemia

et al. 2005

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In this study, we investigated the expression of six human DNA mismatch repair (MMR) genes, human MutS homologues 2 (hMSH2), 3 (hMSH3), and 6 (hMSH6), human MutL homologue 1 (hMLH1), human post-meiotic segregations 1 (hPMS1) and 2 (hPMS2), in primary leukemic cells obtained from 11 patients with acute-type adult T-cell leukemia (ATL) by using reverse transcription-polymerase chain reaction (RT-PCR). In contrast to normal peripheral lymphocytes, all primary ATL samples had reduced or loss of expression of two or more MMR genes, and the expression of several MMR genes was simultaneously suppressed in each ATL patient. Abnormal expression of hMSH2, hMSH3, hMSH6, hMLH1, and hPMS1 was observed more frequently than that of hPMS2. In particular, expression of hMSH2 and hPMS1 was reduced in all cases. Western blot analysis further showed reduced expression of both hMSH2 and hPMS1 proteins in all five cases examined. In three out of the 5 cases, both of the two proteins were undetectable. Interestingly, methylation-specific PCR indicated methylation of hPMS1 promoter in all of four ATL cases examined. hPMS1 expression, but not hMSH2 expression, was restored by treatment with a DNA demethylation agent, 5-aza-2'-deoxycytidine, suggesting that methylation plays a crucial role in inhibition of the hPMS1 gene expression in ATL. Our results demonstrate that defect of both human MutS and human MutL systems in primary ATL cells.

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“…Henry T. Lynch, ein Gastroenterologe der Creighton University, beschrieb 1966 2 Krebsfamilien, in denen neben den KRK auch gehäuft Magen-und Endometriumkarzinome auftraten und die als Familie N und M beschrieben wurden [7]. Zunächst erfolgte eine Unterscheidung in ein Lynch-I-Syndrom, dem man nur Familien mit KRK zuordnete, und ein Lynch-II-Syndrom mit zusätzlichen extrakolonischen Karzinomen wie Endometrium, Magen, Ovar, Pankreas, Dünndarm, Ureter, Nierenbecken und hepatobiliärer Lokalisation [8][9][10][11][12][13][14][15][16]. Diese Heterogenität konnte in neueren Studien allerdings nicht bestätigt werden [16,17].…”

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Kolorektales Karzinom bei V. a. Lynch-Syndrom: ein interdisziplinärer Algorithmus

Schneider

Büttner

et al. 2014

Zentralbl Chir

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Lynch syndrome is the most frequent hereditary cancer syndrome, accounting for approximately 3-5 % of all colorectal cancers. In addition, it is the most frequent predisposing hereditary cause of endometrial cancer and is also associated with gastric cancer, ovarian cancer, cancer of the urinary tract as well as several other cancers. In clinical practise Lynch syndrome is frequently not detected and many clinicians admit uncertainties regarding diagnostic procedures. Also, counselling of patients is considered difficult regarding therapeutic - especially prophylactic surgical and chemopreventive options and recommendations. Based on a review of available literature we discuss optimized strategies for improved detection of suspected Lynch syndrome patients. The aim of this review is to establish a clinical algorithm of how to proceed on a diagnostic level and to discuss surgical options at the time of a colorectal cancer. In order to identify patients with Lynch syndrome, family history should be ascertained and evaluated in regards to fulfilment of the Amsterdam-II- and/or the revised Bethesda criteria. Subsequently immunohistochemical staining for the mismatch-repair-genes, BRAF testing for MLH1 loss of expression, as well as testing for microsatellite instability in some, followed by genetic counselling and mutation analysis when indicated, is recommended. Pathological identification of suspected Lynch syndrome is readily feasible and straightforward. However, the need of performing these analyses in the tumor biopsy at the time of (gastroenterological) diagnosis of CRC neoplasia is essential, in order to offer patients the option of a prophylactically extended surgery and - as recommended in the German S3 guidelines - to discuss the option of a merely prophylactical hysterectomy and oophorectomy (if postmenopausal) in women. Close cooperation between gastroenterologists, pathologists and surgeons is warranted, so that patients may benefit from options of extended or prophylactically extended surgery at the time of diagnosis of a colorectal primary. Patients nowadays must be involved in informed decision-making regarding prophylactic or extended prophylactic surgery at the time of a colorectal primary. To date, however, limitations in daily clinical practise, the failure to assess family history and the lack of awareness of this important hereditary syndrome is the major asset leading to severe underdiagnosis and putting to risk the indexpatients themselves and their families to (metachronous) CRC and the associated extracolonic cancers. If at all tumors of patients fulfilling Bethesda criteria will be analysed for MSI in the surgical specimen and therefore Lynch syndrome patients are not given the opportunity to opt for extended surgery. In clinical experience the postoperative MSI-analysis is inconsistently performed - even if the Bethesda criteria are fulfilled - and in case of suspected Lynch syndrome genetically counselling is not consistently recommended. Therefore affected cancer patients are left unawa...

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Familial occurrence of colon and uterine carcinoma and of lymphoproliferative malignancies.Clinical description

Cited by 24 publications

References 14 publications

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Role of tumor suppressor genes in the development of adult T cell leukemia/lymphoma (ATLL)

Reduced expression of human mismatch repair genes in adult T-cell leukemia

Kolorektales Karzinom bei V. a. Lynch-Syndrom: ein interdisziplinärer Algorithmus

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