2020, Vol 1 No 2

Muir-Torre综合征伴MSH2基因移码突变：一例罕见病例报道并文献复习

摘要：Muir-Torre综合征是Lynch综合征的一个罕见亚型，以同时具有皮肤和内脏肿瘤为特征。在此，我们报道一例由病理医生首先怀疑并诊断的Muir-Torre综合征这种罕见疾病。患者60岁，老年女性，因腋窝皮肤结节被诊断为基底细胞癌。进一步询问病史，得知该患者曾因阴道残端子宫内膜样癌复发而入院检查。经过对皮肤及阴道肿瘤的组织学观察和错配修复蛋白免疫组化染色后，结果提示可能为Muir-Torre综合征。二代测序检测发现MSH2基因存在一个移码突变。此外，从1998年至2016年，该患者先后罹患结直肠癌、子宫内膜的子宫内膜样癌和皮肤癌，家族中也有5名亲属罹患结直肠癌或胶质瘤。这则病例报道揭示了多学科诊疗、错配修复蛋白和基因检测的重要性，以及在做出Muir-Torre综合征诊断时，还要将详细临床病史纳入考虑。

叶显宗　翻译　曲利娟　审校

阅读全文
Muir-Torre综合征伴MSH2基因移码突变：一例罕见病例报道并文献复习

0 thoughts on “Muir-Torre综合征伴MSH2基因移码突变：一例罕见病例报道并文献复习”

  2. Playtech continues to expand its presence in the United States, agreeing a new multi-state deal with operator 888 Holdings. Playtech seals multi-state partnership with 888 in United States - Gaming Intelligence Playtech continues to expand its presence in the United States, agreeing a new multi-state deal with operator 888 Holdings.

    link...
    link...
    link...

    回复

  6. The Italian 51-year-old famously directed the disgraced 35-year-old in his critically-acclaimed 2017 indie gay romance Call Me By Your Name Luca Guadagnino chats cannibal romance Bones and All and parallel to '100% cannibal' Armie Hammer | Daily Mail Online The Italian 51-year-old famously directed the disgraced 35-year-old in his critically-acclaimed 2017 indie gay romance Call Me By Your Name

    https://aviacontact.com/2017/12/28/bring-to-the-table-win-win-survival-strategies/?unapproved=8571&moderation-hash=af1b9c267c648f2cc9dbfaa51bf206ab#comment-8571
    https://the-quart.myharavan.com/blogs/news/1000069849-test-bai-viet-seo?comment=1020384490#comments
    https://www.lufull.com/50.html?unapproved=11116&moderation-hash=5e282e5d2637ae387a8a869575c1ade5

    回复

  7. Where to find the game's new quests - How do you play The Frozen Wilds DLC in Horizon Zero Dawn? Guerrilla's expansion is ... Horizon Zero Dawn: How to Play The Frozen Wilds DLC | Push Square Where to find the game's new quests - How do you play The Frozen Wilds DLC in Horizon Zero Dawn? Guerrilla's expansion is ...

    https://www.coyotesystems.be/blog/innovation/lancement-de-lavertisseur-de-radars-coyote-en-format-mini/?unapproved=18947&moderation-hash=7c191ffc17af5182fd5877f3447c3bd9#comment-18947
    http://asuxcreate.sun.bindcloud.jp/wlwp1/?p=665&unapproved=151956&moderation-hash=293281793d91afdf44e3bb21307d7eaf#comment-151956
    http://abcmkt.ro/4-motive-sa-incepi-a-folosi-continut-video-pentru-afacerea-ta/?unapproved=157962&moderation-hash=aee9b4f99004549fb5e869743477c9dd#comment-157962

    回复

  8. Play Eye Of Horus Megaways and over 1,200 Slingo, online slots and casino games. Enjoy our exciting blend of slots and bingo at the official Slingo site! Play Eye Of Horus Megaways | Online Slots | Slingo Official Play Eye Of Horus Megaways and over 1,200 Slingo, online slots and casino games. Enjoy our exciting blend of slots and bingo at the official Slingo site!

    http://niflheim-haderslev.dk/?page_id=13&unapproved=1340734&moderation-hash=c6b2f9e67d57a767d8107d5c8b28769f#comment-1340734
    http://paogiraldo.com/news/paola/?unapproved=26056&moderation-hash=8d50adbb882c4975f73cd8d75bf793c7#comment-26056
    https://anniemulz.com/top-nhung-khu-nghi-duong-gan-hai-phong/?unapproved=168240&moderation-hash=7748c6773b592f44e76552d286003179#comment-168240

    回复

  9. Play the most exciting online casino games at 777 - wide selection of slots, jackpots, Roulette, Blackjack and live casino & a Welcome Bonus. (T&C's Apply) Online Casino | Play Online Casino at 777 Casino Play the most exciting online casino games at 777 - wide selection of slots, jackpots, Roulette, Blackjack and live casino & a Welcome Bonus. (T&C's Apply)

    https://dietapp.info/luchshie-sredstva-dlya-pohudeniya-top-10-samy-h-e-ffektivny-h/?unapproved=608591&moderation-hash=14fd40689ea9a1892df45700a02a6b2f#comment-608591
    https://www.wormfarmingalliance.com/general-worm-business/what-to-do-during-the-worm-farming-slow-seasons/comment-page-1/?unapproved=1074386&moderation-hash=46ac74135204dadc4b93b31408ac462e#comment-1074386
    https://corona-forum.co.uk/situs-judi-slot-online-terpercaya/?unapproved=375684&moderation-hash=da35827881c426fdcb212ce8d67c2050#comment-375684

    回复

  10. llв–· Valley of the Gods Slot Review вњ… Yggdrasil вњ… 96% RTP вњ… Medium Volatility вњ… Get up to 120 bonus spins Valley of the Gods Slot Review & Bonus бђ€ Get 120 Free Spins llв–· Valley of the Gods Slot Review вњ… Yggdrasil вњ… 96% RTP вњ… Medium Volatility вњ… Get up to 120 bonus spins

    http://qriny.com/uncategorized/hello-world/?unapproved=70851&moderation-hash=10e8650121dd848981c45aacc6d37ced#comment-70851
    https://www.mapleprime.com/blog/how-to-exfoliate-your-skin/?unapproved=39093&moderation-hash=9f41c8687e59de5bd152fbad597cc713#comment-39093
    http://www.antioksidantit.com/astaksantiini-dementia/?unapproved=603227&moderation-hash=0098223f011a0cd549d7c5be1fd175bf#comment-603227

    回复

  11. Spielen Sie Online Poker im deutschen Poker Raum von 888 Poker вћ¤ Blast, Snap, Texas Holdem, Omaha oder Turniere вћ¤ Jetzt spielen! Poker Online | Online Poker Spiele | 888 Poker Spielen Sie Online Poker im deutschen Poker Raum von 888 Poker вћ¤ Blast, Snap, Texas Holdem, Omaha oder Turniere вћ¤ Jetzt spielen!

    http://trafikochhalsa.se/uncategorized/boka-en-kompetensdag-med-dina-anstallda-och-frascha-upp-minnet-om-trafikregler-eller-varfor-inte-hjalpa-dina-anstallda-att-forsta-vardet-om-att-skota-om-sig-sjalv/?unapproved=31042&moderation-hash=9c2d32fd7a1175759a8dd335359b820d#comment-31042
    https://fatloss.london/2018/06/22/how-to-cook-roast-chicken/?unapproved=462634&moderation-hash=9b91bcfea6b9c781d664f4c190d5bdb7#comment-462634
    http://confcamp.ase.ro/2015/?page_id=131&unapproved=73459&moderation-hash=159cc2b4283b9ffc85f9b9a53205b742#comment-73459

    回复

  12. Extra Chilli Slot Review. Read up on this crazy slot from Big Time Gaming and play if for free to see what you think. Can you beat the gambles? Extra Chilli Video Slot by Big Time Gaming - Free Play & Review Extra Chilli Slot Review. Read up on this crazy slot from Big Time Gaming and play if for free to see what you think. Can you beat the gambles?

    http://www.road2cps.eu/events/?p=576&unapproved=28617&moderation-hash=756c5b06b3530f29a8421ace611c91de#comment-28617
    http://blog.nameastarlive.com/how-to-buy-a-telescope/?unapproved=371433&moderation-hash=80910e2531a13835b93b6270ff5c3623#comment-371433
    http://annicafredriksson.se/uncategorized/hello-world/?unapproved=96888&moderation-hash=6eea0d66229fb2c69413c7bdf7bb5293#comment-96888

    回复

  13. Pick’em video poker is not that difficult to master and the optimal playing strategy is easy to learn and offers a satisfactory return percentage. Pick’em Video Poker Pick’em video poker is not that difficult to master and the optimal playing strategy is easy to learn and offers a satisfactory return percentage.

    http://keizeritconsultancy.nl/uncategorized/hello-world/?unapproved=97240&moderation-hash=c946ce4eb8c33e91efb1ab23b944a932#comment-97240
    https://duchuy365store.com/2018/06/08/911/?unapproved=109809&moderation-hash=c7b7d22b390c85a380ad45d46921d9e6#comment-109809
    http://ileridis.com/tips-from-a-not-for-profit-standard-early-adopter/?unapproved=117690&moderation-hash=e2a97d140c76bc87aa5f625e5552393b#comment-117690

    回复

  14. Play Steam Tower slot game at Wizard Slots & read our review. Claim our welcome offer for a chance to win Free Spins. Full Ts and Cs Apply Play Steam Tower | Online Slots | Wizard Slots Play Steam Tower slot game at Wizard Slots & read our review. Claim our welcome offer for a chance to win Free Spins. Full Ts and Cs Apply

    https://online.tavush.am/2022.html

    回复

  16. Learn how to play online Slots with our easy-to-use guide. Discover the ins and outs, what wilds, scatters, Progressive Jackpots and 243 Ways to Win mean, and so much more. Play our popular Slot Machine Games – Online Slots Learn how to play online Slots with our easy-to-use guide. Discover the ins and outs, what wilds, scatters, Progressive Jackpots and 243 Ways to Win mean, and so much more.

    https://www.casino-insider.eu/onespin-casino-1-400eur-de-bonus-propose-pour-jouer.html

    回复

  17. Read our latest Netent Casino Reviews of 2019 or play all Netent Casino Slots first for free. вњ… New Netent Casinos вњ… New Netent Games вњ… Start playing now Netent Casino Reviews - All Online Casino Reviews May 2019 Read our latest Netent Casino Reviews of 2019 or play all Netent Casino Slots first for free. вњ… New Netent Casinos вњ… New Netent Games вњ… Start playing now

    https://sporteon.eu/

    回复

  18. - Right To Play PokerStars, a Flutter international brand, has supported Right To Play since 2014, by engaging staff, customers and partners to help raise funds. The total amassed since the partnership began is now standing at over ВЈ2.7 million, with the aim to reach an amazing ВЈ3 million by the end of 2022.

    https://online.tavush.am/slots-3.html

    回复

发表评论

电子邮件地址不会被公开。 必填项已用*标注