Onkọwe Ọkunrin: Gregory Harris
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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

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Kini idanwo jiini BCR-ABL?

Ayẹwo jiini BCR-ABL wa fun iyipada ẹda (iyipada) lori kromosome kan pato.

Awọn kromosomu jẹ awọn ẹya ara ti awọn sẹẹli rẹ ti o ni awọn Jiini rẹ. Jiini jẹ awọn apakan ti DNA ti o kọja lati iya ati baba rẹ. Wọn gbe alaye ti o ṣe ipinnu awọn ami iyasọtọ rẹ, gẹgẹbi giga ati awọ oju.

Awọn eniyan deede ni awọn krómósómù 46, ti a pin si orisii 23, ninu sẹẹli kọọkan. Ọkan ninu awọn krómósómù kọọkan wa lati ọdọ iya rẹ, ati bata keji wa lati ọdọ baba rẹ.

BCR-ABL jẹ iyipada ti o ṣẹda nipasẹ apapọ awọn Jiini meji, ti a mọ ni BCR ati ABL. Nigbami o pe ni jiini idapọ.

  • Jiini BCR jẹ deede lori nọmba kromosome 22.
  • Jiini ABL jẹ deede lori nọmba kromosome 9.
  • Iyipada BCR-ABL ṣẹlẹ nigbati awọn ege ti awọn Jiini BCR ati ABL ṣẹ ati yipada awọn aaye.
  • Iyipada naa fihan soke lori chromosome 22, nibiti nkan ti kromosome 9 ti sopọ mọ ara rẹ.
  • Kroromosome ti o yipada 22 ni a pe ni chromosome Philadelphia nitori iyẹn ni ilu nibiti awọn oluwadi ti ṣawari akọkọ.
  • Jiini BCR-ABL kii ṣe iru iyipada ti o jogun lati ọdọ awọn obi rẹ. O jẹ iru iyipada somatic kan, eyiti o tumọ si pe a ko bi ọ pẹlu rẹ. O gba igbamiiran ni igbesi aye.

Gene BCR-ABL fihan ni awọn alaisan pẹlu awọn oriṣi aisan lukimia kan, akàn ti ọra inu egungun ati awọn sẹẹli ẹjẹ funfun. BCR-ABL ni a rii ni fere gbogbo awọn alaisan pẹlu iru aisan lukimia ti a pe ni myeloid leukemia onibaje (CML). Orukọ miiran fun CML jẹ onibaje myelogenous aisan lukimia. Orukọ kanna tọka si aisan kanna.


Ọna BCR-ABL tun wa ni diẹ ninu awọn alaisan pẹlu fọọmu kan ti aisan lukimia lymphoblastic nla (GBOGBO) ati ni ṣọwọn ninu awọn alaisan ti o ni lukimia myelogenous nla (AML).

Awọn oogun aarun kan jẹ doko paapaa ni titọju awọn alaisan aisan lukimia pẹlu iyipada jiini BCR-ABL. Awọn oogun wọnyi tun ni awọn ipa ẹgbẹ diẹ ju awọn itọju aarun miiran lọ. Awọn oogun kanna ko ni doko ni itọju awọn oriṣi aisan lukimia tabi awọn aarun miiran.

Awọn orukọ miiran: BCR-ABL1, idapọ BCR-ABL1, chromosome ti Philadelphia

Kini o ti lo fun?

Ayẹwo BCR-ABL jẹ igbagbogbo julọ lati ṣe iwadii tabi ṣe akoso jade lukimia myeloid onibaje (CML) tabi fọọmu kan pato ti aisan lukimia lymphoblastic nla (GBOGBO) ti a pe ni Ph-positive ALL. Ph-rere tumọ si pe a rii chromosome Philadelphia. A ko lo idanwo naa lati ṣe iwadii awọn iru aisan lukimia miiran.

Idanwo naa le tun lo lati:

  • Ri boya itọju aarun ba munadoko.
  • Wo boya alaisan kan ti ni idagbasoke resistance si itọju kan. Iyẹn tumọ si itọju kan ti o lo lati jẹ doko ko ṣiṣẹ mọ.

Kini idi ti Mo nilo idanwo jiini BCR-ABL?

O le nilo idanwo BCR-ABL ti o ba ni awọn aami aiṣan ti aisan lukimia myeloid onibaje (CML) tabi Ph-positive ti o ni arun lukimia ti o ni arun ti o gbooro (GBOGBO). Iwọnyi pẹlu:


  • Rirẹ
  • Ibà
  • Pipadanu iwuwo
  • Awọn irọra alẹ (fifẹ pupọ lakoko sisun)
  • Apapọ tabi irora egungun

Diẹ ninu awọn eniyan ti o ni CML tabi Ph-positive GBOGBO ko ni awọn aami aisan, tabi awọn aami aiṣan pupọ, paapaa ni awọn ipele ibẹrẹ ti arun na. Nitorinaa olupese iṣẹ ilera rẹ le paṣẹ idanwo yii ti kika ẹjẹ pipe tabi idanwo ẹjẹ miiran fihan awọn esi ti ko ṣe deede. O yẹ ki o tun jẹ ki olupese rẹ mọ ti o ba ni awọn aami aisan eyikeyi ti o kan ọ. CML ati Ph-positive GBOGBO ni o rọrun lati tọju nigbati a ba rii ni kutukutu.

O tun le nilo idanwo yii ti o ba n ṣe itọju lọwọlọwọ fun CML tabi Ph-positive ALL. Idanwo naa le ṣe iranlọwọ fun olupese rẹ rii boya itọju rẹ n ṣiṣẹ.

Kini o ṣẹlẹ lakoko idanwo jiini BCR-ABL?

Idanwo BCR-ABL jẹ igbagbogbo idanwo ẹjẹ tabi ilana ti a pe ni ifa inu egungun ati biopsy.

Ti o ba ngba idanwo ẹjẹ, ọjọgbọn ilera kan 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.


Ti o ba ngba ireti egungun ara ati biopsy, ilana rẹ le pẹlu awọn igbesẹ wọnyi:

  • Iwọ yoo dubulẹ ni ẹgbẹ rẹ tabi inu rẹ, da lori iru egungun ti yoo lo fun idanwo. Ọpọlọpọ awọn idanwo ọra inu egungun ni a mu lati egungun itan.
  • Ara rẹ yoo fi aṣọ bo, nitorinaa agbegbe ti o wa ni aaye idanwo nikan ni o n fihan.
  • Aaye yoo di mimọ pẹlu apakokoro.
  • Iwọ yoo gba abẹrẹ ti ojutu pajawiri. O le ta.
  • Lọgan ti agbegbe naa ba ku, olupese iṣẹ ilera yoo mu ayẹwo. Iwọ yoo nilo lati parọ pupọ lakoko awọn idanwo naa.
    • Fun ifẹkufẹ ọra inu egungun, eyiti a maa n ṣe ni akọkọ, olupese iṣẹ ilera yoo fi abẹrẹ sii nipasẹ egungun naa ki o fa omi inu egungun ati awọn sẹẹli jade. O le ni rilara didasilẹ ṣugbọn irora kukuru nigbati a ba fi abẹrẹ sii.
    • Fun biopsy ọra inu eeyan, olupese iṣẹ ilera yoo lo irinṣẹ pataki kan ti o yipo sinu egungun lati mu apẹẹrẹ ti ohun elo ara eegun jade. O le ni irọrun diẹ ninu titẹ lori aaye lakoko ti a mu ayẹwo.
  • Yoo gba to iṣẹju mẹwa 10 lati ṣe awọn idanwo mejeeji.
  • Lẹhin idanwo naa, olupese iṣẹ ilera yoo bo aaye pẹlu bandage kan.
  • Gbero lati jẹ ki ẹnikan ki o gbe ọ lọ si ile, niwọn bi o ti le fun ọ ni imukuro ṣaaju awọn idanwo, eyiti o le jẹ ki o sun.

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

Nigbagbogbo o ko nilo awọn ipese pataki eyikeyi fun ẹjẹ tabi idanwo ọra inu.

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.

Lẹhin idanwo ọra inu egungun, o le ni rilara lile tabi ọgbẹ ni aaye abẹrẹ. Eyi nigbagbogbo lọ kuro ni awọn ọjọ diẹ. Olupese itọju ilera rẹ le ṣeduro tabi ṣe ilana ifunni irora lati ṣe iranlọwọ.

Kini awọn abajade tumọ si?

Ti awọn abajade rẹ ba fihan pe o ni jiini BCR-ABL, bii iye ajeji ti awọn sẹẹli ẹjẹ funfun, o ṣee ṣe ki a ṣe ayẹwo rẹ pẹlu arun lukimia myeloid onibaje (CML) tabi Ph-positive, lukimia lymphoblastic nla (GBOGBO).

Ti o ba n ṣe itọju lọwọlọwọ fun CML tabi Ph-positive ALL, awọn abajade rẹ le fihan:

  • Iye BCR-ABL ninu ẹjẹ rẹ tabi ọra inu egungun n pọ si. Eyi le tumọ si itọju rẹ ko ṣiṣẹ ati / tabi o ti di alatako si itọju kan.
  • Iye BCR-ABL ninu ẹjẹ rẹ tabi ọra inu egungun n dinku. Eyi le tumọ si pe itọju rẹ n ṣiṣẹ.
  • Iye BCR-ABL ninu ẹjẹ rẹ tabi ọra inu egungun ko ti pọ tabi dinku. Eyi le tumọ si pe aisan rẹ jẹ iduroṣinṣin.

Ti o ba ni awọn ibeere nipa awọn abajade rẹ, sọrọ si olupese iṣẹ ilera rẹ.

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 BCR-ABL?

Awọn itọju fun aisan lukimia myeloid onibaje (CML) ati Ph-rere, aisan lukimia ti lymphoblastic nla (GBOGBO) ti ṣaṣeyọri ni awọn alaisan pẹlu awọn ọna lukimia wọnyi. O ṣe pataki lati wo olupese ilera rẹ nigbagbogbo lati rii daju pe awọn itọju rẹ tẹsiwaju lati ṣiṣẹ. Ti o ba di alatako si itọju, olupese rẹ le ṣeduro awọn oriṣi miiran ti itọju aarun.

Awọn itọkasi

  1. American Cancer Society [Intanẹẹti]. Atlanta: American Cancer Society Inc.; c2018. Ohun ti O Fa Onibaje Myeloid Leukemia [imudojuiwọn 2018 Jun 19; ti a tọka si 2018 Aug 1]; [nipa iboju 4]. Wa lati: https://www.cancer.org/cancer/chronic-myeloid-leukemia/causes-risks-prevention/what-causes.html
  2. Cancer.net [Intanẹẹti]. Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Aisan lukimia: Onibaje Myeloid: CML: Ifihan; 2018 Mar [toka 2018 Aug 1]; [nipa iboju 3]. Wa lati: https://www.cancer.net/cancer-types/leukemia-chronic-myeloid-cml/introduction
  3. Cancer.net [Intanẹẹti]. Alexandria (VA): American Society of Clinical Oncology; c2005–2018. Aarun lukimia: Onibaje Myeloid: CML: Awọn Aṣayan Itọju; 2018 Mar [toka 2018 Aug 1]; [nipa iboju 4]. Wa lati: https://www.cancer.net/cancer-types/leukemia-chronic-myeloid-cml/treatment-options
  4. Awọn idanwo Lab lori Ayelujara [Intanẹẹti]. Washington DC: Ẹgbẹ Amẹrika fun Kemistri Ile-iwosan; c2001–2018. BCR-ABL1 [imudojuiwọn 2017 Dec 4; tọka si 2018 Aug 1]; [nipa iboju 2]. Wa lati: https://labtestsonline.org/tests/bcr-abl1
  5. Awọn idanwo Lab lori Ayelujara [Intanẹẹti]. Washington DC: Ẹgbẹ Amẹrika fun Kemistri Ile-iwosan; c2001–2018. Aisan lukimia [imudojuiwọn 2018 Jan 18; tọka si 2018 Aug 1]; [nipa iboju 2]. Wa lati: https://labtestsonline.org/conditions/leukemia
  6. Aisan lukimia ati Lymphoma Society [Intanẹẹti]. Rye Brook (NY): Aarun lukimia ati Lymphoma Society; c2015. Onibaje Myeloid Leukemia [ti a tọka si 2018 Aug 1]; [nipa iboju 3]. Wa lati: http://www.lls.org/leukemia/chronic-myeloid-leukemia
  7. Ile-iwosan Mayo [Intanẹẹti]. Foundation Mayo fun Ẹkọ Iṣoogun ati Iwadi; c1998–2018. Iyẹwo ati egungun ara eegun-ara: Akopọ; 2018 Jan 12 [ti a tọka si 2018 Aug 1]; [nipa iboju 4]. Wa lati: https://www.mayoclinic.org/tests-procedures/bone-marrow-biopsy/about/pac-20393117
  8. Ile-iwosan Mayo [Intanẹẹti]. Foundation Mayo fun Ẹkọ Iṣoogun ati Iwadi; c1998–2018. Onibaje myelogenous lukimia: Akopọ; 2016 May 26 [toka si 2018 Aug 1]; [nipa iboju 4]. Wa lati: https://www.mayoclinic.org/diseases-conditions/chronic-myelogenous-leukemia/symptoms-causes/syc-20352417
  9. Ile-iwosan Mayo: Awọn ile-iwosan Iṣoogun Mayo [Intanẹẹti]. Foundation Mayo fun Ẹkọ Iṣoogun ati Iwadi; c1995–2018. Idanwo Idanwo: BADX: BCR / ABL1, Didara, Itupalẹ Aisan: Iwosan ati Itumọ [ti a tọka si 2018 Aug 1]; [nipa iboju 4]. Wa lati: https://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/89006
  10. Ẹya Olumulo Afowoyi Merck [Intanẹẹti]. Kenilworth (NJ): Merck & Co., Inc.; c2018. Ayẹwo Egungun egungun [ti a tọka si 2018 Aug 1]; [nipa iboju 2]. Wa lati: http://www.merckmanuals.com/home/blood-disorders/symptoms-and-diagnosis-of-blood-disorders/bone-marrow-examination
  11. Ẹya Olumulo Afowoyi Merck [Intanẹẹti]. Kenilworth (NJ): Merck & Co., Inc.; c2018. Onibaje Myelogenous Leukemia [ti a tọka si 2018 Aug 1]; [nipa iboju 2]. Wa lati: https://www.merckmanuals.com/home/blood-disorders/leukemias/chronic-myelogenous-leukemia
  12. National Cancer Institute [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Onibaje Myelogenous Leukemia Treatment (PDQ®) -Patient Version [ti a tọka si 2018 Aug 1]; [nipa iboju 4]. Wa lati: https://www.cancer.gov/types/leukemia/patient/cml-treatment-pdq
  13. National Cancer Institute [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Awọn itọju Aarun Ifojusi ti a fojusi [ti a tọka si 2018 Aug 1]; [nipa iboju 4]. Wa lati: https://www.cancer.gov/about-cancer/treatment/types/targeted-therapies/targeted-therapies-fact-sheet
  14. National Cancer Institute [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; NCI Dictionary ti Awọn ofin akàn: BCR-ABL gene seeli [ti a tọka si 2018 Aug 1]; [nipa iboju 3]. Wa lati: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/bcr-abl-fusion-gene
  15. National Cancer Institute [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Iwe-aṣẹ NCI ti Awọn ofin akàn: BCR-ABL protein protein idapo [ti a tọka si 2018 Aug 1]; [nipa iboju 3]. Wa lati: https://www.cancer.gov/publications/dictionaries/cancer-terms/def/bcr-abl-fusion-protein
  16. 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 Aug 1]; [nipa iboju 3]. Wa lati: https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=gene
  17. 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 Aug 1]; [nipa iboju 3]. Wa lati: https://www.nhlbi.nih.gov/health-topics/blood-tests
  18. NIH Institute Iwadi Ibile-jinlẹ ti Eniyan [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; Awọn ajeji ajeji Chromosome; 2016 Jan 6 [toka si 2018 Aug 1]; [nipa iboju 3]. Wa lati: https://www.genome.gov/11508982
  19. NIH U.S. Library of Medicine: Itọkasi Itọkasi Ile Jiini [Intanẹẹti]. Bethesda (MD): Ẹka Ilera ti U.S. ati Awọn Iṣẹ Eda Eniyan; ABL1 pupọ; 2018 Jul 31 [toka 2018 Aug 1]; [nipa iboju 2]. Wa lati: https://ghr.nlm.nih.gov/gene/ABL1#conditions
  20. Oncolink [Intanẹẹti]. Philadelphia: Awọn alabesekele ti Yunifasiti ti Pennsylvania; c2018. Gbogbo Nipa Arun Inu Ẹjẹ Lymphocytic Adult (GBOGBO) [imudojuiwọn 2018 Jan 22; tọka si 2018 Aug 1]; [nipa iboju 3]. Wa lati: https://www.oncolink.org/cancers/leukemia/leukemia-acute-lymphocytic-leukemia-all/all-about-adult-acute-lymphocytic-leukemia-all
  21. Oncolink [Intanẹẹti]. Philadelphia: Awọn alabesekele ti Yunifasiti ti Pennsylvania; c2018. Gbogbo Nipa Onibaje Myeloid Leukemia (CML) [imudojuiwọn 2017 Oṣu Kẹwa 11; tọka si 2018 Aug 1]; [nipa iboju 3]. Wa lati: https://www.oncolink.org/cancers/leukemia/chronic-myelogenous-leukemia-cml/all-about-chronic-myeloid-leukemia-cml

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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