Onkọwe Ọkunrin: Gregory Harris
ỌJọ Ti ẸDa: 16 OṣU KẹRin 2021
ỌJọ ImudojuiwọN: 14 Le 2024
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Diagnostic pathology: Past, present, and future - Dr. Amin (UTHSC) #PATHOLOGY
Fidio: Diagnostic pathology: Past, present, and future - Dr. Amin (UTHSC) #PATHOLOGY

Akoonu

Kini idanwo jiini PTEN?

Ayẹwo jiini PTEN wa fun iyipada, ti a mọ ni iyipada, ninu jiini ti a pe ni PTEN. Jiini jẹ awọn ipilẹ ipilẹ ti ajogunba ti o kọja lati ọdọ iya ati baba rẹ.

Jiini PTEN ṣe iranlọwọ lati da idagbasoke ti awọn èèmọ duro. O mọ bi titẹkuro tumo. Jiini apanirun tumọ dabi awọn idaduro ni ọkọ ayọkẹlẹ kan. O fi awọn “idaduro” sori awọn sẹẹli, nitorinaa wọn ko pin ni iyara pupọ. Ti o ba ni iyipada jiini PTEN, o le fa idagba ti awọn èèmọ ti kii ṣe aarun ti a pe ni hamartomas. Hamartomas le han ni gbogbo ara. Iyipada le tun ja si idagbasoke awọn èèmọ aarun.

Iyipada jiini PTEN le jogun lati ọdọ awọn obi rẹ, tabi ra ni igbamiiran ni igbesi aye lati agbegbe tabi lati aṣiṣe ti o ṣẹlẹ ninu ara rẹ lakoko pipin sẹẹli.

Iyipada PTEN ti a jogun le fa ọpọlọpọ awọn rudurudu ilera. Diẹ ninu iwọnyi le bẹrẹ ni ikoko tabi ibẹrẹ ọmọde. Awọn miiran fihan ni agba. Awọn rudurudu wọnyi jẹ igbagbogbo papọ ati pe PTEN syndrome ti ara hamartoma (PTHS) ati pẹlu:


  • Aisan Cowden, rudurudu ti o fa idagba ti ọpọlọpọ hamartomas ati mu ki eewu ọpọlọpọ awọn oriṣi ti aarun jẹ, pẹlu awọn aarun ti ọmu, ile-ọmọ, tairodu, ati oluṣafihan. Awọn eniyan ti o ni iṣọn-ẹjẹ Cowden nigbagbogbo ni ori ti o tobi ju deede (macrocephaly), awọn idaduro idagbasoke, ati / tabi autism.
  • Bannayan-Riley-Ruvalcaba dídùn tun fa hamartomas ati macrocephaly. Ni afikun, awọn eniyan ti o ni aarun yi le ni awọn idiwọ ẹkọ ati / tabi autism. Awọn ọkunrin ti o ni rudurudu yii nigbagbogbo ni awọn ami okunkun dudu lori kòfẹ.
  • Proteus tabi Syndrome-like syndrome le fa idagba pupọ ti awọn egungun, awọ-ara, ati awọn awọ ara miiran, ati hamartomas ati macrocephaly.

Ti gba (eyiti a tun mọ ni somatic) Awọn iyipada jiini PTEN jẹ ọkan ninu awọn iyipada ti o wọpọ ti a rii ni akàn eniyan. Awọn iyipada wọnyi ni a ti rii ni ọpọlọpọ awọn oriṣiriṣi oriṣi ti akàn, pẹlu akàn pirositeti, akàn uterine, ati diẹ ninu awọn oriṣi ti ọpọlọ ọpọlọ.


Awọn orukọ miiran: Jiini PTEN, igbekale pupọ ni kikun; PTEN itẹlera ati piparẹ / ẹda

Kini o ti lo fun?

A lo idanwo naa lati wa fun iyipada ẹda jiini PTEN. Kii ṣe idanwo igbagbogbo. Nigbagbogbo a fun awọn eniyan ti o da lori itan-ẹbi, awọn aami aiṣan, tabi ayẹwo tẹlẹ ti akàn, paapaa aarun igbaya, tairodu, tabi ile-ọmọ.

Kini idi ti Mo nilo idanwo jiini PTEN?

Iwọ tabi ọmọ rẹ le nilo idanwo jiini PTEN ti o ba ni itan idile ti iyipada jiini PTEN ati / tabi ọkan tabi diẹ ẹ sii ti awọn ipo wọnyi tabi awọn aami aisan:

  • Awọn hamartomas lọpọlọpọ, paapaa ni agbegbe ikun ati inu
  • Macrocephaly (tobi ju ori iwọn lọ deede)
  • Idaduro idagbasoke
  • Autism
  • Dudu freckling ti kòfẹ ninu awọn ọkunrin
  • Jejere omu
  • Aarun tairodu
  • Aarun Uterine ninu awọn obinrin

Ti o ba ti ni ayẹwo pẹlu aarun ati pe o ko ni itan-akọọlẹ idile ti arun na, olupese iṣẹ ilera rẹ le paṣẹ idanwo yii lati rii boya iyipada jiini PTEN le fa akàn rẹ. Mọ boya o ni iyipada le ṣe iranlọwọ fun olupese rẹ lati ṣe asọtẹlẹ bi arun rẹ yoo ṣe dagbasoke ati itọsọna itọju rẹ.


Kini o ṣẹlẹ lakoko idanwo jiini PTEN?

Idanwo PTEN nigbagbogbo jẹ idanwo ẹjẹ. Lakoko idanwo ẹjẹ, alamọdaju abojuto yoo gba ayẹwo ẹjẹ lati iṣọn kan ni apa rẹ, ni lilo abẹrẹ kekere kan. Lẹhin ti a fi sii abẹrẹ, iye ẹjẹ kekere yoo gba sinu tube idanwo tabi igo kan. O le ni irọra diẹ nigbati abẹrẹ ba wọ inu tabi jade. Eyi maa n gba to iṣẹju marun.

Ṣe Mo nilo lati ṣe ohunkohun lati mura fun idanwo naa?

Nigbagbogbo o ko nilo awọn ipese pataki eyikeyi fun idanwo PTEN.

Ṣe eyikeyi awọn eewu si idanwo naa?

Ewu pupọ wa si nini idanwo ẹjẹ. O le ni irora diẹ tabi ọgbẹ ni aaye ibiti a ti fi abẹrẹ sii, ṣugbọn ọpọlọpọ awọn aami aisan lọ ni kiakia.

Kini awọn abajade tumọ si?

Ti awọn abajade rẹ ba fihan pe o ni iyipada jiini PTEN, ko tumọ si pe o ni aarun, ṣugbọn eewu rẹ ga ju ọpọlọpọ eniyan lọ. Ṣugbọn awọn wiwa aarun igba diẹ sii le dinku eewu rẹ. Akàn jẹ itọju diẹ sii nigbati a rii ni awọn ipele ibẹrẹ. Ti o ba ni iyipada, olupese iṣẹ ilera rẹ le ṣeduro ọkan tabi diẹ sii ninu awọn idanwo ayẹwo atẹle:

  • Colonoscopy, bẹrẹ ni ọjọ-ori 35-40
  • Mammogram, bẹrẹ ni ọjọ-ori 30 fun awọn obinrin
  • Awọn idanwo ara ẹni oṣooṣu fun awọn obinrin
  • Ṣiṣayẹwo ile-ile ọdọọdun fun awọn obinrin
  • Iyẹwo tairodu lododun
  • Ayewo ọdọọdun fun awọn idagbasoke
  • Ṣiṣayẹwo ayẹwo kidinrin ọdọọdun

Tairodu lododun ati awọn iboju ara jẹ tun ni iṣeduro fun awọn ọmọde pẹlu iyipada jiini PTEN.

Kọ ẹkọ diẹ sii nipa awọn idanwo yàrá, awọn sakani itọkasi, ati oye awọn abajade.

Njẹ ohunkohun miiran ti Mo nilo lati mọ nipa idanwo jiini PTEN?

Ti o ba ti ni ayẹwo pẹlu iyipada jiini PTEN tabi ti o n ronu nipa nini idanwo, o le ṣe iranlọwọ lati ba alamọran jiini sọrọ. Onimọnran nipa imọ-jiini jẹ ọjọgbọn ti oṣiṣẹ to ni ẹkọ nipa jiini ati idanwo jiini. Ti o ko ba ti ni idanwo, oludamọran le ṣe iranlọwọ fun ọ lati loye awọn ewu ati awọn anfani ti idanwo. Ti o ba ti ni idanwo, oludamọran le ṣe iranlọwọ fun ọ lati loye awọn abajade ki o tọ ọ si awọn iṣẹ atilẹyin ati awọn orisun miiran.

Awọn itọkasi

  1. American Cancer Society [Intanẹẹti]. Atlanta: American Cancer Society Inc.; c2018. Awọn jiini oncogenes ati tumo jiini idinku [imudojuiwọn 2014 Jun 25; toka si 2018 Jul 3]; [nipa iboju 4]. Wa lati: https://www.cancer.org/cancer/cancer-causes/genetics/genes-and-cancer/oncogenes-tumor-suppressor-genes.html
  2. American Cancer Society [Intanẹẹti]. Atlanta: American Cancer Society Inc.; c2018. Awọn Okunfa Ewu Akàn Thyroid; [imudojuiwọn 2017 Feb 9; toka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.cancer.org/cancer/thyroid-cancer/causes-risks-prevention/risk-factors.html
  3. Akàn.Net [Intanẹẹti].Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Arun Cowden; 2017 Oṣu Kẹwa [toka si 2018 Jul 3]; [nipa iboju 2]. Wa lati: https://www.cancer.net/cancer-types/cowden-syndrome
  4. Akàn.Net [Intanẹẹti]. Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Idanwo Jiini fun Ewu Akàn; 2017 Jul [ti a tọka si 2018 Jul 3]; [nipa iboju 4]. Wa lati: https://www.cancer.net/navigating-cancer-care/cancer-basics/genetics/genetic-testing-cancer-risk
  5. Akàn.Net [Intanẹẹti]. Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Igbaya Ajogunba ati Arun Ovarian; 2017 Jul [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.cancer.net/cancer-types/hereditary-breast-and-ovarian-cancer
  6. Awọn ile-iṣẹ fun Iṣakoso ati Idena Arun [Intanẹẹti]. Atlanta: Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Idena ati Iṣakoso Akàn: Awọn idanwo Ṣiṣayẹwo [imudojuiwọn 2018 May 2; toka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.cdc.gov/cancer/dcpc/prevention/screening.htm
  7. Ile-iwosan Awọn ọmọde ti Philadelphia [Intanẹẹti]. Philadelphia: Ile-iwosan Awọn ọmọde ti Philadelphia; c2018. PTEN Hamartoma Tumor Syndrome [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.chop.edu/condition-diseases/pten-hamartoma-tumor-syndrome
  8. Dana-Farber Akàn Institute [Intanẹẹti]. Boston: Dana-Farber Cancer Institute; c2018. Aarun Jiini ati Idena: Arun Cowden (CS); 2013 Aug [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.dana-farber.org/legacy/uploadedfiles/library/adult-care/treatment-and-support/centers-and-programs/cancer-genetics-and-prevention/cowden-syndrome.pdf
  9. Ile-iwosan Mayo: Awọn ile-iwosan Iṣoogun Mayo [Intanẹẹti]. Foundation Mayo fun Ẹkọ Iṣoogun ati Iwadi; c1995–2018. ID Idanwo: BRST6: Aarun igbaya Oyan 6 Gene Panel: Ile-iwosan ati Itumọ [ti a tọka si 2018 Jul 3]; [nipa iboju 4]. Wa lati: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/64332
  10. Ile-iwosan Mayo: Awọn ile-iwosan Iṣoogun Mayo [Intanẹẹti]. Foundation Mayo fun Ẹkọ Iṣoogun ati Iwadi; c1995–2018. ID Idanwo: PTENZ: PTEN Gene, Itupalẹ Gene kikun: Ile-iwosan ati Itumọ [ti a tọka si 2018 Jul 3]; [nipa iboju 4]. Wa lati: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/35534
  11. MD Ile-akàn Cancer [Intanẹẹti]. Yunifasiti ti Texas MD Anderson Cancer Center; c2018. Awọn Syndromes Cancer Ajogunba [ti a tọka si 2018 Jul 3]; [nipa iboju 4]. Wa lati: https://www.mdanderson.org/prevention-screening/family-history/hereditary-cancer-syndromes.html
  12. National Cancer Institute [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Idanwo Jiini fun Awọn Syndromes Cancer Ajogunba [Ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet
  13. National Cancer Institute [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; NCI Dictionary ti Awọn ofin akàn: pupọ [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
  14. Okan Orilẹ-ede, Ẹdọfóró, ati Ẹjẹ Ẹjẹ [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Awọn idanwo ẹjẹ [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.nhlbi.nih.gov/health-topics/blood-tests
  15. Orilẹ-ede Orilẹ-ede fun Awọn rudurudu Rare [Intanẹẹti]. Danbury (CT): Orilẹ-ede Orilẹ-ede fun Awọn rudurudu Rare; c2018. PTEN Hamartoma Tumor Syndrome [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome
  16. NeoGenomics [Intanẹẹti]. Fort Myers (FL): NeoGenomics Laboratories Inc.; c2018. PTEN Onínọmbà iyipada [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://neogenomics.com/test-menu/pten-mutation-analysis
  17. NIH U.S. Library of Medicine: Itọkasi Itọkasi Ile Jiini [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Jiini PTEN; 2018 Jul 3 [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://ghr.nlm.nih.gov/gene/PTEN
  18. NIH U.S. Library of Medicine: Itọkasi Itọkasi Ile Jiini [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Kini iyipada pupọ ati bawo ni awọn iyipada ṣe waye?; 2018 Jul 3 [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://ghr.nlm.nih.gov/primer/mutationsanddisorders/genemutation
  19. Awọn Ayẹwo Quest [Intanẹẹti]. Ibeere Ayẹwo; c2000–2017. Ile-iṣẹ Idanwo: PTEN Sequencing ati Deletion / Duplication [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.questdiagnostics.com/testcenter/TestDetail.action?ntc=92566
  20. Ile-iwosan Iwadi Awọn ọmọde St. Jude [Intanẹẹti]. Memphis (TN): Ile-iwosan Iwadi Awọn ọmọde St. Jude; c2018. PTEN Hamartoma Tumor Syndrome [ti a tọka si 2018 Jul 3]; [nipa iboju 3]. Wa lati: https://www.stjude.org/disease/pten-hamartoma-tumor-syndrome.html
  21. Yunifasiti ti Rochester Medical Center [Intanẹẹti]. Rochester (NY): Yunifasiti ti Ile-iṣẹ Iṣoogun ti Rochester; c2018. Encyclopedia Health: Aarun igbaya: Idanwo Jiini [ti a tọka si 2018 Jul 3]; [nipa iboju 2]. Wa lati: https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=34&contentid=16421-1

Alaye lori aaye yii ko yẹ ki o lo bi aropo fun itọju iṣoogun ọjọgbọn tabi imọran. Kan si olupese ilera kan ti o ba ni awọn ibeere nipa ilera rẹ.

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