Uyazazi yini lezi zifo zomdlavuza ezingavamile? Ake sixoxe nge-NUT Carcinoma

Wake wezwa nge-NUT Carcinoma? Mhlawumbe akunjalo. Ngoba uhlobo lomdlavuza olungavamile, olungavamile kakhulu, futhi olukhula ngokushesha. Kodwa kubaluleke kakhulu ukwazi ngalo, ngoba lesi simo singakhula kunoma ubani. Ngakho-ke namuhla sizokhuluma ngalo ngokuningiliziwe, njengokungathi sikhuluma nomngane.

Kuyini i-NUT Carcinoma?

Kalula nje, i-NUT Carcinoma uhlobo lomdlavuza olukhula ngokushesha kakhulu futhi olunolaka . Lubhekwa njengolunolaka kakhulu kuma-squamous cell carcinoma. Manje ungase uzibuze ukuthi yimaphi ama-squamous cell cell. Lawa uhlobo lwamaseli atholakala esikhumbeni sethu. Akukhona lokho kuphela, kodwa nezinye izitho zangaphakathi zomzimba wethu nazo zimbozwe yilawa maseli.

Le NUT Carcinoma ibangelwa ukuguquka kwezakhi zofuzo ezizakhini zethu zofuzo. Uma sikhuluma iqiniso, ibangelwa iphutha elisezakhi zofuzo elibizwa ngokuthi `NUTm1`. Uyazi, lezi zakhi zofuzo zinikeza amaseli ethu imiyalelo yokuthi asebenze kanjani. Ngakho-ke, uma kwenzeka iphutha kule miyalelo, okungukuthi, `ukuguqulwa kwezakhi zofuzo`, ngisho namaseli aphilile aqala ukuphenduka abe 'amaseli anomdlavuza'. Bese la maseli omdlavuza eqoqana futhi akhe 'amathumba'.

Ngokuvamile, la ma-carcinoma e-NUT akhula phakathi komzimba wethu, noma eduze "kwe-midline" . Yingakho ayebizwa ngokuthi i-NUT-midline carcinoma ngaphambilini. Kodwa-ke, la ma-tumors angakhula nakwezinye izingxenye zomzimba.

La mathumba anomdlavuza angavela kuphi?

Abantu abatholakale benesifo i-NUT Carcinoma banamathumba ezindaweni ezilandelayo emizimbeni yabo:

• Ikhanda, ikakhulukazi ema-sinuses (lokhu kuvame kakhulu)
• Entanyeni (lokhu kuvame ukubonwa)
• Emaphashini (lokhu kuvamile futhi)
• Engxenyeni ephakathi yesifuba, isikhala lapho inhliziyo namaphaphu kutholakala khona (i-'mediastinum') (lokhu kuvamile futhi)
• I-Pancreas
• Izinso
• Izindlala ze-adrenal
• Isisu
• Isinye
• Emathanjeni (`Amathambo`)

Lo mdlavuza, obizwa ngokuthi i-NUT Carcinoma , ungakhula futhi usabalale ngokushesha okukhulu, noma ngabe welashwa . Yilokho okuyingozi kakhulu ngawo.

I-NUT Carcinoma ingavamile kangakanani?

Empeleni lokhu kubhekwa njengomdlavuza ongavamile kakhulu . Kodwa-ke, kungase kube neziguli eziningi kunalokho esikucabangayo. I-International NUT Midline Carcinoma Registry ibika amacala amasha angu-20 kuphela ngonyaka.

Esinye isizathu saleli nani eliphansi ubunzima bokuxilonga lesi sifo. Ososayensi bathole kuphela isici esiyinhloko salo mdlavuza, "ukuguqulwa kwezakhi zofuzo" ku-"NUTm1" gene, ngo-2004. Ngakho-ke, akuzona zonke izibhedlela ezine-"zinto zokuhlola" ezingabona lesi sakhi sofuzo.

Cabanga ngakho njengokuthola isifo esisha. Kuthatha isikhathi ukuthi ukuhlolwa okufanele kutholakale yonke indawo.

Futhi, i-NUT Carcinoma ididaniswa kalula nezinye izinhlobo ezivamile zomdlavuza. Kungenzeka kuphela ukusho ngokunembile ukuthi umdlavuza uyi-NUT Carcinoma uma kutholakala ukuthi i-'NUTm1` izakhi zofuzo ziguquliwe. Abanye abantu abatholakale benomdlavuza wekhanda nentamo, 'umdlavuza wamaphaphu', kanye nezinye izinhlobo zomdlavuza bangase babe nalolu guquko lwezakhi zofuzo.

Kodwa manje, ngenxa yokuthi ukuqwashisa ngalolu hlobo lomdlavuza kuye kwanda, futhi ngenxa yokuthi ubuchwepheshe bokuthola lokhu kuguqulwa kwezakhi zofuzo buthuthukile, sekulula kochwepheshe bomdlavuza ukuthola i-NUT carcinoma kunangaphambili.

Ubani othola i-NUT Carcinoma?

Lo mdlavuza uvame ukutholakala kubantu abasha . Iminyaka ephakathi lapho kutholakala khona lesi sifo cishe iyiminyaka engama-24. Lokhu kusho ukuthi cishe ingxenye yalabo abatholakale benalesi sifo ingaphansi kweminyaka engama-24 ubudala, kanti enye ingxenye ikhulile.

Kodwa-ke, lo mdlavuza ungakhula kunoma ubani . Utholakale ezinganeni ezisanda kuzalwa, nakubantu abaseminyakeni yawo-80. Ngakho-ke akunakwenzeka ukucabanga ukuthi ngeke uvele ngenxa yobudala kuphela.

Ziyini izimpawu ze-NUT Carcinoma?

Esikhathini esiningi, lo mdlavuza awubonisi zimpawu ezigabeni zokuqala . Izimpawu ziqala ukuvela lapho umdlavuza usukhule kancane futhi waqala ukuthinta izicubu ezizungeze isimila. Ngaleso sikhathi, ungase uzizwe ukhathele futhi ungaphilile kahle.

Ngenxa yokuthi izimila zivame ukuvela ezimbotsheni zama-sinus nasemaphashini, izimpawu ezibikwa kakhulu zihlobene nazo.

Izimpawu ezivamile:

• Ukukhathala/ukukhathala okukhulu (`Ukukhathala`)
• Ukwehlisa isisindo okungachazeki
• Isigaxa esibuhlungu noma ukuvuvukala (`Isigaxa esibuhlungu`)

Izimpawu ze-sinus cyst:

• Ukucindezeleka kwe-sinus, ukuqina, noma ubuhlungu
• Ukopha igazi njalo
• Ukuminyana kwamakhala noma ukugcwala
• Ukulahlekelwa umuzwa wakho wokuhogela

Izimpawu zesimila samaphaphu:

• Ukuphefumula kanzima noma ukuphefumula kanzima
• Ukukhwehlela okungapheli (ukukhwehlela okungapheli)

Ungesabi i-NUT Carcinoma ngoba nje unalezi zimpawu. Kodwa uma lezi zimpawu ziqhubeka,Kubaluleke kakhulu ukubonana nodokotela futhi uthole iseluleko.

Yini ebangela i-NUT Carcinoma?

Lo mdlavuza ubangelwa ukuhlanganiswa kwezakhi zofuzo ezimbili ezihlukene, okudala i-gene exubile engavamile (`i-gene exubile` noma i-`gene exubile`). Kuwo wonke umuntu one-NUT Carcinoma, i-gene `NUTm1` ihlanganiswa nenye i-gene okungafanele ihlanganiswe nayo. I-gene `NUTm1` ayibangeli umdlavuza ngokwayo, kodwa le gene exubile esanda kwakheka yiyo ebangela ukuba amangqamuzana omdlavuza akhule.

Kubantu abangaba ngu-75% abane-NUT carcinoma, i-gene ye-`NUTm1` ihlanganiswa ne-gene ye-`BRD4`. Kubantu abangaba ngu-15%, i-gene ye-`NUTm1` ihlanganiswa ne-gene ye-`BRD3`. Akuvamile ukuthi ihlanganiswe nezinye izakhi zofuzo.

Ososayensi abakaqiniseki ukuthi yini ebangela lokhu kuguquka kwezakhi zofuzo. Kodwa into eyodwa icacile: azizuzwa njengefa. Futhi izici ezivamile eziyingozi yomdlavuza, njengokubhema nokuchayeka ku-carcinogen, azibonakali zihilelekile. Ucwaningo olwengeziwe luyadingeka ukuze kuqondwe ukuthi yini ethonya lezi zinguquko zezakhi zofuzo.

I-NUT Carcinoma itholakala kanjani?

Odokotela baxilonga lesi sifo nge-biopsy. Lokhu kuhilela ukuthatha isampula encane yezicubu ezivela esimila besebenzisa inaliti ekhethekile engenalutho. Isampula bese ithunyelwa elabhorethri ukuze ihlolwe amangqamuzana omdlavuza.

Udokotela wakho uzosebenzisa nezinqubo ezikhethekile zokuthwebula izithombe ukuze abheke isimila esingaphakathi emzimbeni wakho futhi anqume isigaba saso. Ukuhlolwa komdlavuza inqubo yokuthola ukuthi umdlavuza ungonakalise kangakanani, ngokusekelwe kubukhulu besimila, indawo yaso, nokuthi ngabe sisakazeke (sisakazeke) kusukela esimila esiyinhloko kuya kwezinye izingxenye zomzimba. Ukuhlolwa komdlavuza kwenzeka lapho amangqamuzana omdlavuza ehlukana nesimila sokuqala, ehamba ngoketshezi lwe-lymph noma egazini, bese akha izimila ezintsha ezithweni noma ezicutshini ezikude.

I-CT scan kanye ne-MRI scan kungabonisa ukuthi isimila sikuphi emzimbeni. I-PET scan ingabonisa ukuthi umdlavuza ususabalele yini.

Yiziphi izivivinyo ezenziwayo ukuze kutholakale lesi sifo?

Ukuhlolwa okukhethekile okubizwa ngokuthi i-`Immunohistochemistry` kwenziwa elabhorethri ukuthola ukuthi i-`NUTm1` gene ikhona yini kusampula ye-biopsy. Uma i-`NUTm1` gene ikhona kusampula (`positive`), itholakala njenge-NUT Carcinoma.

Ezinye izivivinyo ezingenziwa ukuze kutholakale lesi sakhi sofuzo ukuhlolwa kwe-Fluorescence In Situ Hybridization (FISH) noma ezinye izivivinyo ezikhethekile zofuzo.

Iphathwa kanjani i-NUT Carcinoma?

Ungasusa isimila.Kungadingeka ukuhlinzwa kanye nokwelashwa ngemisebe. Uma umdlavuza ususakazekele ngale kwesimila, kunganikezwa ne-chemotherapy . Ngokuvamile, eyodwa noma ngaphezulu yalezi zindlela zokwelapha zinikezwa ndawonye.

Kodwa-ke, ukwelapha i-NUT carcinoma kuyinselele kakhulu. Ngokuvamile, noma ngabe ukwelashwa kuvimbela umdlavuza ukuthi ube mubi kakhulu, uzoqala ukukhula futhi usabalale futhi ngemva kwesikhashana.

Into ebaluleke kakhulu ngezikhathi ezinjengalezi ukuhlala siqinile. Kudingeka silalele okushiwo odokotela futhi sibhekane nalokhu kanye nabo.

Uma kutholakale ukuthi une-NUT Carcinoma, ukuhlolwa kwezokwelapha kungaba yindlela engcono kakhulu yokwelapha . Ukuhlolwa kwezokwelapha kuyizifundo ezihlola ukwelashwa okusha noma izindlela zokwelapha. Ososayensi okwamanje bacwaninga ukwelashwa okuqondiwe kwe-NUT Carcinoma. Ukwelashwa okuqondiwe kuyindlela yokwelapha eqondiswe ekuguqulweni kwezakhi zofuzo okubangela ukuba iseli eliphilile libe nomdlavuza.

Enye yezindlela zokwelapha eziqondiwe ze-NUT carcinoma yi -'BET` inhibitors . Le mithi ihlose izakhi zofuzo ezimbili, i-'BRD4` kanye ne-'BRD3`, ezivame ukuhlotshaniswa nezakhi zofuzo ze-'NUTm1`. Lezi zithibi, kanye naleyo zakhi zofuzo ze-'NUTm1`, zimisa ukukhula kwamaseli omdlavuza.

Ingabe i-NUT Carcinoma ingelapheka?

Ngeshwa, ayikho ikhambi le-NUT Carcinoma. Umdlavuza okhula ngokushesha kakhulu osakazeka ngokushesha kwezinye izingxenye zomzimba. Ngokwesilinganiso, abantu abathola ukwelashwa baphila cishe izinyanga eziyi-10 ngemva kokutholakala benalesi sifo. Abantu ababili kuya kwabathathu kwabayishumi abatholakala benalesi sifo baphila iminyaka emibili.

Kodwa, njenganoma yimuphi umdlavuza, ukubikezela kwakho, noma ukuthi uzosabela kahle kangakanani ekwelashweni, kuncike ezintweni eziningi. Indawo yesimila, ukuthi singasuswa ngokuphelele yini ngokuhlinzwa noma ngokwelashwa ngemisebe, kanye nezinye izifundo zikhombisile ukuthi ezinye izakhi zofuzo ezihambisana nesakhi sofuzo se-NUTm1 nazo zidlala indima.

Udokotela wakho uzochaza imigomo yokwelashwa ngokusekelwe ekuxilongweni kwakho.

Ngizinakekela kanjani?

Kubalulekile ukuzihlanganisa nabantu obathembayo nobasekelayo phakathi nalesi sikhathi. Sebenzisa zonke izinsiza ezitholakalayo ukukusiza ubhekane nezinselele ezihambisana nalokhu kuxilongwa.

Ukunakekelwa kobuhlungu okuvela kudokotela wakhoFunda ngezinsizakalo. Ochwepheshe bokunakekelwa kwe-palliative bangakusiza ukuthi uphathe izidingo ezintsha zempilo yakho ngenxa yalokhu kutholakala. Bangakusiza ukuthi uphathe imiphumela emibi ye-chemotherapy kanye nokwelashwa ngemisebe, futhi bakusize ukuthi ubhekane nemithwalo yemfanelo yansuku zonke ehambisana nomdlavuza.

Khumbula, awuwedwa. Ungalokothi unqikaze ukucela usizo nokusekelwa.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kunezinto eziningi ongase ufune ukuzibuza udokotela wakho ngesikhathi esinjengalesi. Nazi ezinye izibonelo:

• Ingabe umdlavuza usabalele?
• Ingabe ngidinga ukubona uchwepheshe noma ngiye esibhedlela esikhethekile ukuze ngithole ukwelashwa?
• Hlobo luni lokwelashwa olunconywayo?
• Yiziphi izinzuzo kanye nezingozi ezingaba khona zokwelashwa?
• Iyini imigomo yokwelashwa?
• Ungangisiza yini ukuthola ezinye izinsizakalo zokusekela, okuhlanganisa nokunakekelwa kobuhlungu?

Ukwelashwa kwe-NUT Carcinoma kungaba nzima kakhulu. Ngokubona udokotela ovamile womdlavuza kanye nokucindezeleka kokuphila kwansuku zonke, ukubhekana nokuxilongwa komdlavuza kungaba nzima. Izinsiza zezokwelapha ezifana nokunakekelwa kobuhlungu zingasiza. Futhi ukufinyelela abathandekayo bakho kungaba umthombo omkhulu wamandla. Kusukela ngesikhathi uthola ukuxilongwa kwakho, kubalulekile ukukhuluma ngokukhululekile nethimba lakho lokunakekelwa komdlavuza ukuze uqonde izinketho zokunakekelwa ezingcono kakhulu eziya phambili. Okuhlangenwe nakho komdlavuza wonke umuntu kuhlukile. Ithimba lakho lezokwelapha likhona ukukuqondisa kulesi sikhathi esinzima.

Izinto ezibalulekile okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake sifingqe izinto ezibaluleke kakhulu okudingeka uzikhumbule kulokho esikhulume ngakho:

• I-NUT Carcinoma uhlobo lomdlavuza olungavamile, kodwa olusakazeka ngokushesha kakhulu futhi olunolaka.
• Lokhu kubangelwa ukuguquka kwezakhi zofuzo ``NUTm1``. Lokhu akuyona into ezuzwa njengefa.
• Izimpawu zivame ukuvela ngemva kokuba umdlavuza usuqhubeke kancane. Ungawushayi indiva, futhi funa iseluleko sezokwelapha uma unezimpawu ezingavamile eziqhubekayo.
• Kudingeka i-biopsy kanye nokuhlolwa okukhethekile kwezakhi zofuzo ukuze kutholakale ukuthi kukhona yini imbangela.
• Ukwelashwa kuyinselele, kodwa ucwaningo luyaqhubeka mayelana nokwelashwa okusha. Izivivinyo zemitholampilo zingaba inketho enhle.
• Ukunakekelwa kobuhlungu kanye nokusekelwa kwabathandekayo bakho kubaluleke kakhulu kulolu hambo.
• Khuluma ngokukhululekile ngakho konke nethimba lakho lezokwelapha.

Ngiyethemba ukuthi lolu lwazi luwusizo kuwe. Ukuqaphela lesi sifo kuzokusiza ukuthi wenze izinqumo ezifanele uma isikhathi sifika.

` I-NUT Carcinoma, umdlavuza, ukuguquka kwezakhi zofuzo, umdlavuza ongavamile, i-squamous cell carcinoma, izimpawu zomdlavuza, ukwelashwa komdlavuza