Enye yezinto ezithuthukisayo kakhulu ekwelapheni umdlavuza wamaphaphu ivela ekuqondeni izinguquko zofuzo emangqamuzaneni omdlavuza wamaphaphu. Njengoba esikhathini esedlule siphule amakhemikhali emaphaphu kuze kube ngaphansi kwezinhlobo ezinhlanu, manje sazi ukuthi ayikho imishanguzo yesifo samaphaphu esifanayo. Uma kwakukhona abantu abangu-30 ekamelweni elinomdlavuza wamaphaphu, babezoba nezinhlobo ezingafani ezingu-30 ezihlukile zesifo.
Uma usanda kutholakala ukuthi unomdlavuza wamaphaphu, ikakhulukazi i- lung adenocarcinoma , i-oncologist yakho kungenzeka ukuthi ikhulume nawe mayelana nokuhlolwa kofuzo (okungaziwa ngokuthi i-molecular profiling noma i-biomarker testing) ye-tumor yakho. Manje kunconywa ukuthi zonke iziguli zomdlavuza wamaphaphu ezineziphuthumayo eziphezulu noma zamathambo e-lung adenocarcinoma (uhlobo lomdlavuza wesifo samangqamuzana okungewona amancane) lunokuhlolwa kwe-biomarker ukubuka izinguquko ze-EGFR kanye nokulungiswa kabusha kwe-ALK ne-ROS1.
Ngaphezu kwalokho, iziguli ezinezinye izinhlobo zesifo somdlavuza ongasona omncane wamaphaphu (isibonelo, i-adenosquamous carcinoma kubantu abangabhemi) kufanele ihlolwe futhi njengokuhlolwa.
Kuyini ukuhlolwa kwe-Genetic?
Ukuvivinya umzimba kuhilela ukuhlola ukuthi i-pathologist yenza ebhodini besebenzisa isampula emathisini akho omdlavuza. Lezi zivivinyo zibukeka umdlavuza kusuka ezingeni lemangqamuzana.
Izicubu zingase zivela kwi- biopsy ye-tumor yakho noma kusuka kumathisusi asuswe ngesikhathi sokuhlinzwa ngomdlavuza wamaphaphu . Isizathu salokhu ukuthi i-khansa inezakhi zofuzo nezinguquko ezenza "ukushayela" noma ukulawula ukukhula komdlavuza.
Ngokulula, uma lezi zinguquko zingabonakala, khona-ke izindlela zokwelashwa zingasetshenziswa ukuthi "zihlose" lezi zinguquko, ngakhoke zivimbela ukukhula komdlavuza. Yilezi zinguquko eziholela ekuthuthukiseni umdlavuza kuqala.
Ngaphambi kokuqhubeka phambili, kuyasiza ukulungisa into edideka kubantu abaningi.
Kunezinhlobo ezimbili eziyinhloko zezakhi zofuzo:
- Izinguquko ezithintekayo. Ebizwa nangokuthi i-germline yashintshashintsha, lokhu kusho ukuthi uzuze izakhi zofuzo ngokushintshashintsha komzali oyedwa noma ngaphezulu. Izibonelo ezivamile zalezi zinguquko zihlanganisa i- hemophilia kanye nezinguquko ezingahle zibeke umuntu ekuthuthukiseni umdlavuza webele, njenge- BRCA1 ne- BRCA2 .
- Izinguquko ezithintekayo. Uhlobo lwezinguquko ezisatshenziselwa ososayensi kubantu abanomdlavuza wamaphaphu kuthiwa zinguquko ezitholakalayo, noma ukuguquguquka kwesimo somzimba). Lezi zinguquko azikho ngesikhathi sokuzalwa (futhi ungagijimi emindenini), kodwa kunalokho uthuthuke ekusebenzeni kwamaseli abe umdlavuza .
Kuyini Izinguquko Ze-Gene?
Izinguquko ze-Gene ziguqula isakhi esithile ku-chromosome. Zonke izakhi zofuzo zakhiwe ngokulandelana okuguquguqukayo kwama-amino acid amane (abizwa ngokuthi ama-bases) -adenine, i-tyrosine, i-cytosine, ne-guanine.
Uma isakhi sitholwa yi-toxins emvelweni, noma uma kwenzeka ingozi ekuhlukaneni kweseli, ukuguquguquka, noma ushintsho, kungenzeka. Kwezinye izimo, kungase kusho ukuthi isisekelo esisodwa sinomunye esikhundleni, njenge-adenine esikhundleni se-guanine. Kwezinye izimo, izisekelo zingeniswa, zisuswe, noma zihlelwe kabusha ngendlela ethile.
Ukubaluleka kokuguqulwa kweGene
Kungani i-oncologists inesithakazelo ekuguquleni kwezakhi zofuzo esiswini?
Okokuqala, kufanele sikhulume ngezinhlobo ezimbili zinguquko ezitholakale ezitholakala kumangqamuzana amaphaphu:
- Izinguquko zomshayeli . Lezi zinguquko, ngokusebenzisa izindlela eziningana, "ukushayela" ukukhula kwesisu. Emdlavuza wamaphaphu, inani lokuguqulwa komshayeli liguqukile. Kwesinye isifundo, isilinganiso sezinguquko ezingu-11 zomshayeli ngomdlavuza sitholakale.
- Izinguquko zomgibeli. Njengoba nje umuntu engaba umgibeli emotweni, lezi zakhi zofuzo aziqhubi umdlavuza, kodwa ngokuyinhloko zihambisana nokuhamba. Futhi, asazi kahle ukuthi zingaki izinguquko zomgibeli ezitholakala esithombeni (futhi inombolo iyahluka kusukela ekuhlaleni kuya kwesisu), kodwa ezinye izicubu zingase zibe nezingu-1,000 zalezi zinguquko. Izinguquko zomshayeli aziqali kuphela ukuthuthukisa umdlavuza, kepha zisebenzela ukugcina ukwanda komdlavuza.
Izinguquko ezivamile zokushayela
Kukhona izinguquko eziningi ezifundiswa ososayensi bebheke emathunjini amaphaphu. Kuze kube manje, ukuguquguquka komshayeli kuye kwabonakala cishe ngamaphesenti angama-60 wamaphaphu adenocarcinomas futhi kungenzeka ukuthi le namba izokwanda ngesikhathi.
Abacwaningi manje bathola ukuguqulwa komshayeli emdlalweni wesifo somdlavuza wamangqamuzana. Ngokuvamile, lezi zinguquko zithintana ngokukhethekile futhi azivami ukubonakala ngesifo esifanayo. Izinguquko ezivamile zomshayeli emdlavuza wamaphaphu zihlanganisa:
- Izinguquko ze-EGFR
- Izinguquko ze-KRAS
- Ukulungiswa kabusha kwe-EML4-ALK
- Ukulungiswa kabusha kwe-ROS1
- Ukukhuliswa kwe-MET
- Izinguquko ezingu-HER2
- Ukulungiswa kabusha kwe-RET
- Izinguquko ze-BRAF
Ukwelashwa okwenziwe ngokwezifiso
Ukusetshenziswa "kwemithi ehlosiwe," imishanguzo ehlose ukukhubazeka okungokwemvelo ku-tumor, isungulwe imithi yomuntu siqu noma imithi eqondile. Lokho kusho lokhu, kunokuba kube nemithi ejwayelekile yokwelapha i-chemotherapy ehlasela wonke amangqamuzana ahlukanisa ngokushesha, ukuhlaselwa kwezidakamizwa okuhlosiwe okungajwayelekile okukhona kuphela kumaseli omdlavuza wakho.
Ngokuvamile, ukwelashwa okuhlosiwe kunemiphumela emibi embalwa kunekhambi elivamile. Kuze kube manje, ukwelashwa okuhlosiwe okuye kwavunyelwa abantu abanomdlavuza wamaphaphu kubandakanya:
- I-Tarceva (erlotinib) yabantu abane-tumor ene-EGFR ishintsho (Qaphela: kunezinhlobo ezahlukene zezinguquko ze-EGFR futhi akuzona zonke eziphendula ngokufanayo kulokhu.)
- I-Xalkori (crizotinib) yabantu abane-tumor ene-ALK4-EML ye-gene rearrangement (Qaphela: I-FDA ivumile lokhu ngo-2011 futhi yanikezwa isimo sokuphumelela komdlavuza we-lung we-ROS1 ohleliwe kabusha ngo-2015.)
Eminye imishanguzo iye yamukelwa futhi iyacwaningwa ekuvivinyweni kwemitholampilo, kuhlanganise nemithi ehlosiwe kulabo abahlukunyezwayo yi-Tarceva noma i-Xalkori.
Ukuphikiswa Ukwelashwa
Inkinga enzima ngezinqubo zokwelashwa ezisetshenzisiwe njengamanje ukuthi cishe wonke umuntu uyakwazi ukumelana nemithi esiyitholayo. Kunezinqubo eziningi okwenzeka lokhu okwenze kube nzima ukuthola isixazululo esisodwa. Ukucwaninga kuqhubeka ekuvivinyweni kwemitholampilo-ukuhlola kokubili ukusetshenziswa kokufaka umuthi wesibili ukukhomba ukuguqulwa kwezidakamizwa kanye nezidakamizwa ezisebenzisa izinhloso ezahlukene noma izindlela zokuhlasela iseli somdlavuza.
Ukuhlola
Ukuhlolwa kwezakhi zofuzo kanye nokuhlelwa kabusha kuvame ukuqhutshwa kuma-sampuli amathisamu atholakala kwindlela ethile yamaphaphu noma i-biopsy ye-metastasis. Kodwa ngo-June 2016, noma kunjalo, ukuhlolwa kwe-biopsy yamanzi manje kuyatholakala njengendlela yokuhlolwa kwezinguquko ze-EGFR kwabanye abantu. Njengoba lezi zivivinyo zingenziwa nge-draw elula yegazi, lokhu kuyisimo esiphuthumayo sokuqapha umdlavuza wamaphaphu.
Izwi elivela
Ikhono lokuqonda iphrofayela yamangqamuzana yamaphaphu amaphaphu yindawo ejabulisayo kakhulu yocwaningo, futhi cishe kungenzeka ukuthi ukwelashwa okusha kwezinye izinguquko kuzotholakala kungekudala.
Isibonelo sokuthi lesi sigaba semithi esiphuthumayo siphuthuma kanjani ukulungiswa kabusha kwegciwane le-ALK4-EML. Leli gciwane "ukuguquguquka" (empeleni i-rearrangement) yatholwa maduzane ngo-2007. Ngenqubo esheshayo, i-Xalkori (crizotinib) yezokwelapha yamukelwa ngo-2011 ngokusetshenziswa jikelele yi-FDA kulabo abagulayo abanezikhwama ezinalo ukulungiswa kabusha. Kukhona ukuvivinywa kokwelashwa okwamanje okuqhubekayo ukuhlola ukusetshenziswa kwezidakamizwa zesizukulwane sesibili kulabo abaye baba melana ne-Xalkori.
Uma uthola ukuthi unomdlavuza wamangqamuzana ongewona omncane, ikakhulukazi i-lung adenocarcinoma noma umdlavuza wamaphaphu wesigamu, khuluma nodokotela wakho mayelana nokuhlolwa kofuzo. Nakuba ukuhlolwa manje kunconywa wonke umuntu onomdlavuza ongaphambilini wamancane wesifo samaphaphu, ucwaningo lwamuva lubike ukuthi amaphesenti angu-60 kuphela e-oncologists okwamanje ayala ukuhlolwa.
Ungase ufise ukukhuluma nodokotela wakho mayelana nokuhlolwa kwemitholampilo okungenzeka kube yindlela ongakhetha kuyo. Muva nje, ukuhlolwa komtholampilo wamaphaphu wamaphaphu kufana nesevisi exhaswe izinhlangano eziningana zomdlavuza wamapayipi sezibuye zitholakale, futhi. Nale nsizakalo yamahhala, i-navigator eqeqeshiwe engakusiza ingakusiza ukuthi uthole noma yikuphi ukuvivinywa kokwelashwa okungase kube yinketho kuwe.
> Imithombo:
> Ukuhlaziya, T., Chawla, A., Batra, R., noRargia. Ukwelashwa ngokwezifiso ngomdlavuza wamaphaphu: izindlela zamangqamuzana, izindlela zokwelashwa ezihlosiwe, kanye nokuhlukaniswa komzimba. Ukuthuthukiswa KweMithi Yezobuchwepheshe Nokuzivocavoca . 2014. 799: 85-117.
> Kim, H., Mitsudomi, T., Soo, R., no B. Cho. Ukwelapha okwenziwe ngokwezifiso ekugcineni kwe-squamous cell carcinoma yamaphaphu. I-Cancer Lung . 2013. 80 (3): 249-55.
> Li, T., Kung, H., Mack, P. no D. Gandara. I-genotyping kanye nokuprofetha ngokobuciko komdlavuza we-non-encane-wamaphaphu wamaphaphu: impendulo yamaphilisi wamanje namasasa. I-Journal ye-Clinical Oncology . 2013. 31 (8): 1039-49.
> Villaruz, L., Burns, T., Ramfidis, V., noMn. Socinski. Ukuzenzela ukwelapha emdlalweni wesifo samaphaphu esingaphambili esincane. Ama-Seminar in Medicine Care and Respiratory Care . 2013. 34 (6): 822-36.