So wunim kokoram a wɔntaa nhu yi? Momma yɛnka NUT Carcinoma ho asɛm

So woate NUT Carcinoma ho asɛm pɛn? Ebia ɛnte saa. Efisɛ ɛyɛ kokoram a ɛntaa nsi, ɛntaa nsi koraa, na enyin ntɛmntɛm. Nanso ɛho hia paa sɛ wubehu ho asɛm, efisɛ saa tebea yi betumi aba obiara mu. Enti ɛnnɛ yɛbɛka ho asɛm akɔ akyiri kakra, te sɛ nea yɛne yɛn adamfo bi rekasa.

Dɛn ne NUT Carcinoma?

Sɛ yɛbɛka no tiawa a, NUT Carcinoma yɛ kokoram a enyin ntɛmntɛm yiye na ɛyɛ den . Wobu no sɛ ɛyɛ nea ɛyɛ hu sen biara wɔ squamous cell carcinomas no mu. Seesei ebia woresusuw nea squamous cells yɛ ho. Eyinom yɛ nkwammoaa bi a ɛwɔ yɛn honam ani. Ɛnyɛ ɛno nko, na mmom yɛn nipadua no mu akwaa bi nso, saa nkwammoaa yi kata so.

Saa NUT Carcinoma yi fi awosu mu nsakrae a ɛba yɛn awosu mu nkwaadɔm mu. Sɛ yɛbɛka no pɛpɛɛpɛ a, ɛnam sintɔ bi a ɛwɔ awosu mu abɔde bi a wɔfrɛ no `NUTm1` mu. Wunim, saa awosu mu nkwaadɔm yi ma yɛn nkwammoaa no akwankyerɛ wɔ sɛnea ɛbɛyɛ adwuma ho. Enti, sɛ mfomso bi ba akwankyerɛ ahorow yi mu, kyerɛ sɛ, `mutation` a, nkwammoaa a ɛwɔ apɔwmuden mpo fi ase dan `kokoram nkwammoaa`. Afei saa kokoram nkwammoaa yi boaboa wɔn ho ano na wɔyɛ `tumors`.

Mpɛn pii no, saa NUT kokoram yi ba yɛn nipadua mfinimfini, anaasɛ ɛfa ``mfinimfini`` . Ɛno nti na kan no na wɔfrɛ wɔn NUT-midline carcinoma no. Nanso, saa akisikuru yi betumi ayɛ kɛse wɔ nipadua no afã afoforo nso.

Ɛhe na kokoram akisikuru yi betumi ayɛ?

Nnipa a wɔahu sɛ wɔwɔ NUT Carcinoma no wɔ akisikuru wɔ mmeae a edidi so yi wɔ wɔn nipadua so:

• Ti no, titiriw wɔ sinus mu (eyi ne nea abu so sen biara) .
• Wɔ kɔn so (wɔtaa hu eyi nso) .
• Wɔ ahurututu mu (eyi nso abu so) .
• Wɔ koko no mfinimfini fã no, baabi a koma ne ahurututu no wɔ (`mediastinum`) (eyi nso abu so) .
• Pancreas a ɛwɔ nipadua no mu
• Asaabo a ɛma obi nya asaabo
• Adrenal ntini ahorow
• Yafunu
• Akisikuru
• Wɔ nnompe mu (`Nnompe`) .

Saa kokoram yi a wɔfrɛ no NUT Carcinoma , betumi anyin na atrɛw ntɛmntɛm yiye, sɛ wɔsa mpo a . Ɛno ne ade a asiane wom sen biara wɔ ho.

NUT Carcinoma ho yɛ na dɛn?

Wobu eyi ankasa sɛ kokoram a ɛntaa nsi koraa . Nanso, ebia ayarefo bɛdɔɔso asen sɛnea yesusuw. Amanaman Ntam NUT Midline Carcinoma Registry bɔ amanneɛ sɛ nnipa foforo 20 pɛ na wɔanya bi afe biara.

Ade biako nti a dodow yi sua ne sɛnea ɛyɛ den sɛ wobehu yare yi. Nyansahufoɔ hunuu kokoram yi su titire, ``mutation`` a ɛwɔ ``NUTm1`` awosu mu abɔdeɛ mu, wɔ afe 2004. Enti, ɛnyɛ ayaresabea nyinaa na wɔwɔ ``sɔhwɛ nneɛma`` a ɛtumi hu saa awosuo yi.

Fa no sɛ ɛte sɛ nea woahu yare foforo bi. Egye bere kakra ansa na sɔhwɛ ahorow a ɛfata atumi ayɛ nea wobetumi anya wɔ baabiara.

Afei nso, ɛnyɛ den sɛ wɔde NUT Carcinoma bɛfrafra kokoram ahorow afoforo a ɛtaa ba. Sɛ wohu `NUTm1` awosu mu nkwaadɔm mu nsakrae no nkutoo a, ɛbɛyɛ yiye sɛ wobehu no pɛpɛɛpɛ sɛ ebia kokoram bi yɛ NUT Carcinoma. Nnipa binom a wɔahu sɛ wɔwɔ `ti ne kɔn mu kokoram`, `ahurututu mu kokoram`, ne kokoram ahorow afoforo bi betumi anya saa awosu mu nkwaadɔm mu nsakrae yi ankasa.

Nanso mprempren, esiane sɛ kokoram a ɛte sɛɛ ho nimdeɛ akɔ soro, na esiane sɛ mfiridwuma a wɔde hu awosu mu nsakrae yi atu mpɔn nti, abɛyɛ mmerɛw ama kokoram ho abenfo sɛ wobehu NUT kokoram sen kan no.

Hena na onya NUT Carcinoma?

Wɔtaa hu kokoram yi wɔ mmerante ne mmabaa mu . Mfe a obi adi bere a wɔahu yare no bɛyɛ mfe 24. Eyi kyerɛ sɛ wɔn a wɔahu sɛ wɔanya bi no mu bɛyɛ fã nnii mfe 24, na fã a aka no nso anyin.

Nanso, kokoram yi betumi anya obiara so . Wɔahu wɔ nkokoaa a wɔawo wɔn foforo mu, ne nnipa a wɔadi mfe 80 mu. Enti ɛrentumi nyɛ yiye sɛ yebesusuw sɛ ɛnyɛ mfe a obi adi nkutoo so na ɛbɛba.

Dɛn ne NUT Carcinoma ho sɛnkyerɛnne?

Mpɛn pii no, kokoram yi nkyerɛ sɛnkyerɛnne biara wɔ ne mfiase . Nsɛnkyerɛnne no fi ase da adi bere a kokoram no anyin kakra na afi ase aka ntini a atwa akisikuru no ho ahyia no. Saa bere no, ebia wotaa te nka sɛ woabrɛ na wo ho nyɛ wo den.

Esiane sɛ akisikuru taa ba wɔ sinus cavities ne ahurututu mu nti, sɛnkyerɛnne ahorow a wɔbɔ ho amanneɛ kɛse no fa ho.

Nsɛnkyerɛnne a ɛtaa ba:

• Ɔbrɛ/ɔbrɛ a ɛtra so (`Ɔbrɛ`) .
• Mu duru a ɛso tew a wontumi nkyerɛkyerɛ mu
• Mass a ɛyɛ yaw

Nsɛnkyerɛnne a ɛkyerɛ sɛ obi anya sinus cyst:

• Sinus nhyɛso, ɛyɛ den, anaa ɛyaw
• Mogya a ɛtaa tu fi hwene mu
• Anom a ɛyɛ mmerɛw anaasɛ ɛyɛ mmerɛw
• Wo hua a wobɛhwere

Ahurututu mu akisikuru ho sɛnkyerɛnne:

• Ɔhome a ɛyɛ tiaa anaa ɔhome a ɛyɛ den
• Ɔfe a enni sabea (ɔfe a ɛkɔ so tra hɔ a ɛnkɔ) .

Nsuro NUT Carcinoma esiane sɛ wowɔ saa sɛnkyerɛnne ahorow yi nti. Nanso sɛ saa sɛnkyerɛnne ahorow yi kɔ so a, .Ɛho hia yiye sɛ wobɛkɔ oduruyɛfo nkyɛn ampa na woanya afotu.

Dɛn na ɛde NUT Carcinoma ba?

Saa kokoram yi fi awosu mu nkwaadɔm ahorow abien a wɔaka abom, na ɛde awosu mu nkwaadɔm a ɛyɛ nwonwa a wɔde afrafra (`hybrid gene` anaa `fusion gene`) ba. Wɔ ɔyarefo biara a ɔwɔ NUT Carcinoma mu no, wɔde awosu mu abɔde `NUTm1` ne awosu mu abɔde foforo a ɛnsɛ sɛ wɔde ka ho bom. `NUTm1` awosu mu abɔde no ankasa mfa kokoram mma, nanso saa awosu mu nkwaadɔm a wɔde afrafra a wɔayɛ no foforo yi ne nea ɛma kokoram nkwammoaa nyin.

Wɔ nnipa a wɔwɔ NUT kokoram bɛyɛ 75% mu no, wɔde `NUTm1` awosu mu abɔde no ne `BRD4` awosu mu abɔde no bom. Wɔ bɛyɛ 15% foforo mu no, wɔde `NUTm1` awosu mu abɔde no ne `BRD3` awosu mu abɔde no bom. Ɛntaa mma koraa sɛ wobetumi de afra awosu mu nkwaadɔm afoforo mu.

Nyansahufo ntumi nhu nea ɛde awosu mu nsakrae yi ba. Nanso ade biako da adi pefee: wɔnyɛ agyapade. Saa ara nso na ɛte sɛ nea nneɛma a ɛtaa de kokoram ba, te sɛ sigaretnom ne nnuru a ɛma kokoram ba no ka ho. Nhwehwɛmu pii ho hia na ama yɛate nea ɛka awosu mu nsakrae yi ase.

Ɔkwan bɛn so na wohu sɛ obi anya NUT Carcinoma?

Nnuruyɛfo nam nipadua mu nhwehwɛmu so hu yare yi. Nea ɛka eyi ho ne sɛ wɔde ade titiriw bi a ɛyɛ tokuru bɛfa ntini ketewaa bi afi akisikuru no mu. Afei wɔde nhwɛsode no kɔ aduruyɛdan bi mu kɔhwɛ sɛ ebia kokoram nkwammoaa wɔ mu anaa.

Wo duruyɛfo nso de mfoninitwa akwan titiriw bi bedi dwuma de ahwɛ akisikuru a ɛwɔ wo nipadua mu no na wahu sɛnea ɛkɔ. Kokoram gyinabea yɛ ɔkwan a wɔfa so hu sɛnea kokoram no mu yɛ den, a egyina akisikuru no kɛse, beae a ɛwɔ, ne sɛ ebia atrɛw (atrɛw) afi akisikuru titiriw no mu akɔ nipadua no afã afoforo so. Kokoram a ɛkɔ mmeae afoforo no ba bere a kokoram nkwammoaa no tetew wɔn ho fi mfitiase akisikuru no ho, fa nsu a ɛma mogya tu anaa mogya no mu, na wɔyɛ akisikuru foforo wɔ akwaa anaa ntini ahorow a ɛwɔ akyirikyiri mu no.

CT scan ne MRI scan betumi akyerɛ baabi a akisikuru no wɔ wɔ nipadua no mu. PET scan betumi ahu sɛ kokoram no atrɛw anaa.

Nhwehwɛmu bɛn na wɔyɛ de hu yare yi?

Wɔyɛ sɔhwɛ titiriw bi a wɔfrɛ no `Immunohistochemistry` wɔ aduruyɛdan mu de hwehwɛ sɛ ebia `NUTm1` awosu mu abɔde no wɔ biopsy nhwɛsode no mu anaa. Sɛ `NUTm1` gene no wɔ nhwɛsode no mu (`positive`) a, wohu sɛ ɛyɛ NUT Carcinoma.

Sɔhwɛ afoforo a wobetumi ayɛ de ahu saa awosu mu abɔde yi ne Fluorescence In Situ Hybridization (FISH) sɔhwɛ anaa awosu mu nhwehwɛmu titiriw afoforo.

Ɔkwan bɛn so na wɔsa NUT Carcinoma?

Wubetumi ayi akisikuru no afi hɔ.Ebia ɛho behia sɛ wɔyɛ oprehyɛn ne mframa a wɔde sa yare. Sɛ kokoram no atrɛw akɔ akyiri asen akisikuru no a, wobetumi de nnuru a wɔde sa yare nso ama. Mpɛn pii no, wɔde saa ayaresa yi biako anaa nea ɛboro saa bom ma.

Nanso, NUT kokoram a wɔbɛsa no yɛ den yiye. Mpɛn pii no, sɛ ayaresa ma kokoram no nsɛe mpo a, ebefi ase anyin na atrɛw bio wɔ bere tiaa bi akyi.

Ade a ɛho hia sen biara wɔ mmere a ɛte sɛɛ mu ne sɛ wobɛkɔ so ayɛ den. Ɛsɛ sɛ yetie nea nnuruyɛfo no ka na yɛne wɔn bom hyia eyi.

Sɛ wohu sɛ wowɔ NUT Carcinoma a, ebia ayaresabea sɔhwɛ bɛyɛ ayaresa a eye sen biara . Ayaresa mu sɔhwɛ ahorow yɛ nhwehwɛmu ahorow a ɛsɔ ayaresa foforo anaa akwan a wɔfa so sa yare hwɛ. Mprempren nyansahufo reyɛ nhwehwɛmu wɔ ayaresa a wɔde wɔn ani asi so a wɔde sa NUT Carcinoma ho. Targeted therapy yɛ ayaresa a wɔde si awosu mu nsakrae a ɛma nkwammoaa a ɛte apɔw yɛ kokoram no so.

Ayaresa a wɔde wɔn ani asi so ma NUT kokoram no mu biako ne `BET` inhibitors . Saa nnuru yi de wɔn ani si awosu mu nkwaadɔm abien so, `BRD4` ne `BRD3`, a wɔtaa ne `NUTm1` awosu mu abɔde no wɔ abusuabɔ. Saa inhibitors yi, ne saa gene `NUTm1` no, gyae kokoram nkwammoaa nyin.

So wobetumi asa NUT Carcinoma?

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde sa NUT Carcinoma. Ɛyɛ kokoram a enyin ntɛmntɛm yiye a ɛtrɛw ntɛmntɛm kɔ nipadua no afã afoforo. Sɛ wɔkyekyem pɛpɛɛpɛ a, nnipa a wonya ayaresa no tra ase bɛyɛ asram 10 bere a wɔahu sɛ wɔanya yare no akyi. Nnipa du biara a wohu sɛ wɔwɔ NUT Carcinoma no mu baanu kosi baasa tra ase mfe abien.

Nanso, sɛnea ɛte wɔ kokoram biara ho no, wo nkɔmhyɛ, anaa sɛnea wobɛyɛ w’ade yiye wɔ ayaresa ho no gyina nneɛma pii so. Beae a akisikuru no wɔ, sɛ́ ebia wobetumi de oprehyɛn anaa mframa a wɔde sa yare ayi afi hɔ koraa no, ne nhwehwɛmu ahorow bi ada no adi sɛ awosu mu nkwaadɔm afoforo a ɛne NUTm1 awosu mu abɔde no bom nso di dwuma.

Wo duruyɛfo no begyina nea wɔahu no so akyerɛkyerɛ ayaresa botae ahorow mu.

Mɛyɛ dɛn ahwɛ me ho?

Ɛho hia sɛ wode nnipa a wowɔ wɔn mu ahotoso na woboa wɔn ho atwa wo ho ahyia wɔ saa bere yi mu. Fa nneɛma a ɛwɔ hɔ nyinaa di dwuma de boa wo ma wofa nsɛnnennen a ɛba bere a woahu saa yare yi mu no so.

Palliative care a efi wo duruyɛfo hɔSua nnwuma ho ade. Adwumayɛfo a wɔhwɛ ayarefo a wɔyare a ɛma obi ho dwo no betumi aboa wo ma woadi w’asetra mu nneɛma foforo a wɔhwehwɛ esiane saa yare yi a wɔahu nti no ho dwuma. Wobetumi aboa wo ma woadi nea efi nnuru a wɔde sa yare ne mframa a wɔde sa yare mu ba no ho dwuma, na wɔaboa wo ma woagyina da biara da asɛyɛde ahorow a kokoram de ba no ano.

Kae sɛ ɛnyɛ wo nko ara. Mma ntwentwɛn wo nan ase da sɛ wobɛsrɛ mmoa ne mmoa.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Nneɛma pii wɔ hɔ a ebia wobɛpɛ sɛ wubisa wo duruyɛfo wɔ bere a ɛte sɛɛ mu. Nhwɛso ahorow bi ni:

• So kokoram no atrɛw?
• So ɛsɛ sɛ mekɔ oduruyɛfo titiriw bi nkyɛn anaasɛ mekɔ ayaresabea titiriw bi kɔhwɛ no?
• Ayaresa bɛn na wokamfo kyerɛ?
• Mfaso ne asiane ahorow bɛn na ɛwɔ ayaresa so?
• Dɛn ne ayaresa botae ahorow?
• So wubetumi aboa me ma manya mmoa afoforo, a ayarehwɛ a ɛma obi ho dwo ka ho?

Mpɛn pii no, NUT Carcinoma ayaresa betumi ayɛ nea emu yɛ den. Esiane sɛ wɔtaa kɔ kokoram ho ɔyaresafo nkyɛn na da biara da asetra mu adwennwen ba nti, kokoram a wobehu no betumi ayɛ den. Aduruyɛ mu nneɛma te sɛ ɔyare a ɛma obi ho dwo no betumi aboa. Na sɛ wokɔ w’adɔfo nkyɛn a, ebetumi ayɛ den kɛse. Efi bere a wo nsa aka wo yare no, ɛho hia sɛ wo ne wo kokoram hwɛ kuw no kasa pefee na ama woate ɔhwɛ a eye sen biara a wobɛfa so akɔ w’anim no ase. Ɛsono kokoram ho osuahu a obiara nya. W’aduruyɛfo kuw no wɔ hɔ sɛ wɔbɛkyerɛ wo kwan wɔ bere a emu yɛ den yi mu.

Nneɛma a ɛho hia a ɛsɛ sɛ wokae (Take-Home Message) .

Okay, enti momma yɛmmɔ nneɛma a ɛho hia sen biara a ɛsɛ sɛ wokae fi nea yɛaka ho asɛm no mu no mua:

• NUT Carcinoma yɛ kokoram a ɛntaa nsi, nanso ɛtrɛw ntɛmntɛm yiye, na ɛyɛ den.
• Eyi fi mutation a ɛba wɔ gene ``NUTm1`` mu. Eyi nyɛ biribi a wonya fi awo mu.
• Mpɛn pii no, sɛnkyerɛnne ahorow no da adi bere a kokoram no anya nkɔso kakra akyi. Mma w’ani ngu so, na sɛ wowɔ sɛnkyerɛnne ahorow bi a ɛyɛ soronko a ɛkɔ so a, hwehwɛ aduruyɛfo afotu.
• Ɛsɛ sɛ wɔyɛ nipadua mu nhwehwɛmu ne awosu mu nhwehwɛmu titiriw na ama wɔahu yare no.
• Ayaresa yɛ den, nanso wɔreyɛ nhwehwɛmu wɔ ayaresa foforo ho. Ebia nnuruyɛ mu sɔhwɛ ahorow bɛyɛ ɔkwan pa a wobetumi afa so.
• Palliative care ne mmoa a w’adɔfo de ma no ho hia yiye wɔ akwantu yi mu.
• Wo ne w’aduruyɛfo kuw no nka biribiara ho asɛm pefee.

Mewɔ anidaso sɛ saa nsɛm yi ho bɛba wo mfaso. Sɛ wuhu saa yare yi a, ɛbɛboa wo ma woasisi gyinae pa bere a bere no adu no.

` NUT Kokoram, kokoram, awosu mu nsakrae, kokoram a ɛntaa nsi, squamous cell carcinoma, kokoram ho sɛnkyerɛnne, kokoram ayaresa