So worehyia akuru a ɛyɛ soronko wɔ wo nipadua so? Eyi betumi ayɛ PTEN Hamartoma Tumor Syndrome (PHTS)!

So woahu akisikuru anaa akuru a ɛyɛ nwonwa wɔ wo nipadua anaa w’abusua mu obi nipadua so pɛn? Ebia emu binom bɛyɛ te sɛ nea biribiara nhaw wɔn ho, nanso ɛtɔ mmere bi a wobetumi ayɛ ayaresa tebea bi ho sɛnkyerɛnne. Ɛnnɛ, yɛrebɛka saa tebea horow no mu biako ho asɛm a ɛsɛ sɛ wohaw wo ho.

Dɛn ne PTEN Hematoma Tumor Syndrome (PHTS) a ɛma obi nya akisikuru?

Sɛ yɛbɛka no tiawa a, PTEN Hamartoma Tumor Syndrome (PHTS) yɛ nyarewa kuw bi a nsakrae, anaa nkwaadɔm mu nsakrae, a ɛba wɔ awosu mu abɔde bi a wɔfrɛ no `PTEN` mu wɔ yɛn nipadua mu. Afei ebia worebisa sɛ dɛn ne `PTEN` gene no. Fa no sɛ obi wɔ yɛn nipadua mu a ɔhwɛ sɛnea nkwammoaa nyin so, na ɔyɛ n’ade te sɛ ɔwɛmfo. Saa na saa `PTEN` gene yi te. Eyi yɛ `tumor suppressor gene` . Nea ɛyɛ ne sɛ ɛyɛ `enzyme` a ɛmma yɛn nkwammoaa nnyin a yentumi nni so na ɛnyɛ akisikuru.

Enti, sɛ mutation, anaasɛ sintɔ bi wɔ saa `PTEN` gene yi mu a, nkwammoaa nyin a wɔhwɛ so no nyɛ adwuma yiye. Afei nkwammoaa no fi ase nyin a wontumi nni so, na nneɛma a wɔfrɛ no `hamartomas` betumi ayɛ. Hamartoma yɛ onyin a ɛnyɛ kokoram (`benign`) , ɛnyɛ asiane, a ɛte sɛ akisikuru. Sɛ wowɔ PHTS a, asiane kɛse wom sɛ wubenya mogya mu ntini ahorow yi ne akisikuru afoforo a ɛnyɛ kokoram. Afei nso, ɛtɔ da bi a asiane wɔ hɔ sɛ kokoram (`malignant`) , akisikuru, a ɛkyerɛ kokoram.

Syndrom ahorow bɛn na ɛhyɛ PHTS kuw no ase?

PHTS kuw a ɛtrɛw yi ka ɔyare atitiriw abien ho: Cowden yare ne Bannayan-Riley-Ruvalcaba yare (BRRS) . Kan no na nnuruyɛfo bu saa abien yi sɛ tebea horow a ɛsono emu biara, nanso mprempren ne baanu nyinaa ne nkwaadɔm mu nsakrae a ɛba PTEN awosu mu abɔde mu no wɔ abusuabɔ, enti wɔaboaboa wɔn ano wɔ asɛmfua biako a ɛyɛ nkatanim, PHTS ase.

Akwahosan ho asiane a obi a ɔwɔ PHTS hyia, sɛ́ ɛyɛ Cowden syndrome anaa BRRS no, di nsɛ yiye. Ɛtɔ da bi a, obi a ɔwɔ PHTS betumi anya sɛnkyerɛnne ahorow a ɛfa ɔyare abien no nyinaa ho wɔ ne nkwa nna mu.

• Cowden syndrome: Eyi taa ba mpanyimfo mu. Saa nkurɔfo yi betumi anya akisikuru a ɛnyɛ hu ne nea ɛyɛ hu nyinaa. Saa akisikuru yi taa ba nufu, awotwaa, thyroid ntini, yafunu mu, honam ani, tɛkrɛma, ne anom.
• Bannayan-Riley-Ruvalcaba syndrome (BRRS): Eyi ka mmofra nkumaa kɛse. Mmofra a wɔwɔ BRRS no betumi anya honam ani akisikuru ne awo agyiraehyɛde. Ebia wɔn nkɔso nso bɛkyɛ .

Dɛn ne PHTS ho sɛnkyerɛnne ahorow?

PHTS betumi ama mogya a ɛba wo nipadua no mu ntini ahorow mu aba. Nsɛnkyerɛnne pɔtee a wubehu no bɛsono a egyina PHTS ko a wowɔ so. Mpɛn pii no, sɛ wowɔ PHTS a, wubetumi anya sɛnkyerɛnne ahorow a edidi so yi mu biako anaa nea ɛboro saa:

Wora ho nsensanee ne akisikuru

• Nnua nketenkete a enyin a ɛte sɛ nea ɛsensɛn honam ani (skin tags anaa acrochordons) .
• Nsonsonoe a ɛyɛ tumm na ɛyɛ tratraa wɔ nsateaa ne nan ase (palmoplantar keratoses ).
• Nkuruwankuruwa nketenkete a ɛyɛ mmerɛw wɔ anim (trichilemmomas ).
• Nsõ a ɛyɛ kɔla te sɛ honam ani, a ɛkɔ soro ( papillomas ).
• Srade a ɛyɛ akisikuru ( lipomas ) a ɛba honam ani.
• Nkuruwa a ɛyɛ den a ɛte sɛ anom a ɛwɔ ano no mu (oral fibromas ).
• Mogya ntini a enyin a wotumi hu wɔ honam ani ( hemangiomas ne awo agyiraehyɛde ).
• Nsõ a ɛwɔ mmarima awotwaa so (`freckling on your penis` ).

Akisikuru ahorow a ɛnyɛ kokoram (`Benign`).

• Thyroid nodules ( akuru a ɛwɔ thyroid ntini no mu).
• Thyroid ntini no trɛw a ntini pii (multinodular goiters ) ba.
• Akisikuru a ɛwɔ awotwaa mu ( uterine fibroids ).
• Fibroadenomas a ɛwɔ nufu no mu .
• Cystic soft tissue nsakrae a ɛba nufu no mu ( fibrocystic breasts ).
• Nnua nketenkete a enyin a ɛba wɔ aduan mu ntini ne dwensɔtwaa kɛse no atifi (colon polyps ).

Amemene ne nkɔso ho haw ahorow

• Ti a ɛsõ sen sɛnea ɛte daa a obi benya (macrocephaly ).
• Sɛ obi wɔ ne ti a ɛyɛ tenten titiriw ( dolichocephaly ).
• Nkɔso a ɛkyɛ .
• Autism spectrum yare (Autism spectrum yare ).

Dɛn na ɛde PHTS ba?

Sɛnea yɛadi kan aka ho asɛm no, ade titiriw a ɛde PHTS ba ne nkwaadɔm mu nsakrae, anaa nsakrae a ɛba `PTEN` awosu mu abɔde mu. Saa `PTEN` gene yi na ɛma `enzyme` bi a ɛkyerɛ nkwammoaa sɛ wonnyae mpaapaemu na ɛsan nso kyerɛ bere a ɛsɛ sɛ nkwammoaa bi wu (`apoptosis`). Afei eyi ma nkwammoaa foforo a ɛwɔ apɔwmuden nya baabi.

Wɔ PHTS mu no, PTEN awosu mu abɔde no nyɛ adwuma yiye. Ne saa nti, nkwammoaa tumi kɔ so mu paapae na enyin a wontumi nni so. Awiei koraa no, saa nkwammoaa yi tumi bom nyin ma ɛyɛ akisikuru. Ɛwom sɛ mpɛn pii no, saa akisikuru yi nyɛ nea asiane biara nni ho de, nanso ɛtɔ mmere bi a ebetumi abɛyɛ kokoram.

PHTS yɛ awosu mu tebea a wɔde ma awo ntoatoaso ahorow.Ɛno kyerɛ sɛ mmofra betumi anya saa awosu mu nkwaadɔm a wɔayɛ no foforo yi afi wɔn awofo hɔ.

Ɔkwan bɛn so na PHTS fi abusua no mu?

Wonya PHTS agyapade wɔ ``autosomal dominant`` nhyehyɛe mu . Wunim nea ɛno kyerɛ? Yɛn nyinaa wɔ ``PTEN`` gene no mfonini abien wɔ yɛn nipadua mu. Baako fi yɛn maame hɔ, biako fi yɛn papa hɔ. Wɔ PHTS fam no, wunya ``PTEN`` awosu mu abɔde no fã biako a ɛyɛ apɔwmuden ne biako a ɛyɛ ``mutated``. Sɛ mpo wowɔ copy biako a ɛwɔ apɔwmuden a, ``PTEN`` gene a wɔayɛ no foforo no na ɛde ɔhaw ahorow a ɛbata PHTS ho no ba. Eyi kyerɛ sɛ sɛ awofo no mu biako pɛ na ɔwɔ awosu mu abɔde a wɔayɛ no foforo no mpo a, hokwan 50% wɔ hɔ sɛ wɔn ba no benya bi.

Ɛtɔ mmere bi a, wunnya PTEN awosu mu abɔde a wɔayɛ no foforo no mfi w’awofo hɔ. Mmom no, nkwaadɔm mu nsakrae no betumi aba ansa na wɔawo wo, sɛ́ awotwaa anaa awotwaa .

Ɛmfa ho sɛnea wubenya saa mutation yi, sɛ wowɔ bi a, wo ba no wɔ hokwan 50% sɛ obenya saa mutation gene copy no afi awo mu.

Asiane bɛn na ɛwɔ kokoram a ɛbata PHTS ho?

Sɛ wowɔ Cowden syndrome a, asiane kɛse wɔ hɔ sɛ wubenya kokoram ahorow bi sen nnipa dodow no ara. Enti, ɛsɛ sɛ woyɛ kokoram ho nhwehwɛmu wɔ w’asetra nyinaa mu na ama woadi asiane yi ho dwuma. Ɛwom sɛ nhwehwɛmu ahorow yi ntumi nsiw kokoram ano de, nanso sɛ wohu ntɛm a, wobetumi afi ayaresa ase ntɛm na nea efi mu ba no betumi ayɛ papa.

Kokoram ahorow a ebia wowɔ asiane kɛse mu sɛ wubenya ne:

• Nufu mu kokoram
• Thyroid kokoram
• Asaabo mu kokoram
• Awotwaa mu kokoram
• Kokoram a ɛwɔ akyi berɛmo mu
• Melanoma, honam ani kokoram

Wɔda so ara reyɛ nhwehwɛmu foforo wɔ kokoram ho asiane a ɛbata BRRS ho no ho.

Ɔkwan bɛn so na wohu PHTS?

Wo duruyɛfo no bɛkyerɛ sɛ wowɔ PHTS sɛ wohu nsakrae bi wɔ PTEN awosu mu abɔde mu a. Ɛho behia sɛ woyɛ awosu mu nhwehwɛmu de hwɛ sɛ wowɔ saa nkwaadɔm mu nsakrae yi anaa. Wɔtaa yɛ eyi denam mogya mu nhwehwɛmu so .

Akwankyerɛ ahorow wɔ hɔ a wɔde hwehwɛ awosu mu nhwehwɛmu a wɔde hu Cowden yare no (sɛ nhwɛso no, efi National Comprehensive Cancer Network ne Cleveland Ayaresabea hɔ). Wɔyɛ akwankyerɛ ahorow yi foforo daa a egyina nhwehwɛmu foforo so. Amanaman Ntam Cowden Fekuw no nso de gyinapɛn ahorow a wɔde behu Cowden yare no asi hɔ. Wo duruyɛfo begyina wo sɛnkyerɛnne ahorow, abusua abakɔsɛm a ɛfa akisikuru ho, ne sɛ ebia wowɔ PTEN mutation so besi gyinae sɛ ebia wuhia nhwehwɛmu yi.

Ɛwom sɛ akwankyerɛ biara nni hɔ a wɔde hu BRRS de, nanso ebia wo duruyɛfo bɛkamfo nhwehwɛmu koro no ara a wɔde hu Cowden yare no akyerɛ.

Nea ɛho hia sen biara ne sɛ, sɛ wogye tom sɛ wowɔ saa mutation yi a, ɛho hia yiye sɛ w’abusua mufo afoforo nso nya sɔhwɛ yi.

So wobetumi asa PHTS koraa?

Nea ɛyɛ awerɛhow no, mprempren wonni aduru biara a wɔde sa PHTS. Nanso, nyansahufo kɔ so reyɛ nhwehwɛmu wɔ ayaresa ahorow a ɛyɛ adwuma yiye ma kokoram ahorow a PTEN mu nsakrae wom no mu.

Ɔkwan bɛn so na wɔsa PHTS na wɔhwɛ so?

Sɛ wowɔ PHTS a, ebia wowɔ nnuruyɛfo kuw bi a wɔhwɛ w’akwahosan. Wɔbɛboa wo ma woadi biribiara ho dwuma fi wo sɛnkyerɛnne ahorow so kosi nyin a ɛnteɛ so kosi nyin a ɛkyɛ so. Wɔbɛsan nso ahwɛ asiane a ɛwɔ hɔ sɛ wo kokoram no na wɔasi mpɛn dodow a ɛsɛ sɛ woyɛ kokoram ho nhwehwɛmu ho gyinae.

Akwan a wɔfa so sa yare

Ɛwom sɛ akwankyerɛ pɔtee biara nni hɔ a wɔde bɛsa akisikuru, kokoram anaa nea ɛnyɛ kokoram, denam PTEN mu nsakrae so de, nanso ayaresa no begyina wo sɛnkyerɛnne ahorow so. Ebia ayaresa ahorow yi bi ne:

• Oprehyɛn: Ntini a ɛnyɛ ne kwan so a woyi fi hɔ. Ansa na oduruyɛfo no bɛyɛ oprehyɛn no, obetumi afa ntini bi de ahwɛ sɛ kokoram nkwammoaa wɔ hɔ anaa ( biopsy ).
• Cryotherapy: Awɔw a ano yɛ den a wɔde di dwuma de sɛe ntini a ɛnyɛ ne kwan so.
• Laser ablation: Ɔhyew a ano yɛ den a wɔde sɛe ntini a ɛnyɛ ne kwan so.
• Nnuru a wɔde hyɛ nipadua no so: Nnuru titiriw a wɔayɛ sɛ ɛbɛsɛe honam ani akisikuru.

Nhwehwɛmu a wɔyɛ de hu kokoram

Sɛ wowɔ Cowden syndrome a, ɛho behia sɛ wɔhwɛ wo so daa, wo nkwa nna nyinaa mu de hwɛ sɛ ebia nyin a ɛnyɛ kokoram ne kokoram nyinaa nyin anaa. Eyi kyerɛ sɛ, sɛ ɔhaw biara ba a, wobetumi akyere no ntɛm sɛnea wobetumi, bere a eye sen biara a wɔde bɛsa. Ɛwom sɛ akwankyerɛ biara nni hɔ a ɛfata a wɔde bɛhwɛ nnipa a wɔwɔ BRRS de, nanso ebia wo duruyɛfo bɛkamfo nhwehwɛmu a ɛte sɛ nea wɔyɛ wɔ Cowden syndrome ho no akyerɛ.

Saa akwan a wɔfa so sɔ sɔhwɛ yi betumi ayɛ nea edidi so yi, a wɔtaa yɛ:

• Mammograms: Sɔhwɛ a wɔde X-ray a wɔmfa nni dwuma pii di dwuma de twa nufu mu ntini ho mfonini.
• Nufu mu MRI: Sɔhwɛ a wɔde magnet kɛse ne radio asorɔkye twa nufu mu ntini ho mfonini.
• Ultrasounds: Sɔhwɛ a wɔde nnyigyei asorɔkye di dwuma de twa nufu mu ntini ho mfonini.
• Colonoscopies: Sɔhwɛ a wɔde hwɛ dwensɔtwaa kɛse no mu denam afiri (scope) a wɔde mfoninitwa afiri abata ho so. Wobetumi de saa tube yi nso ayi polyps afi hɔ. Eyi betumi agyae nyin ansa na abɛyɛ kokoram.
• Endoscopy (`Nkwammoaa mu nhwehwɛmu`): .Sɔhwɛ a wɔde afiri (scope) a mfoninitwa afiri abata ho hyɛ mu de hwɛ aduannoa mu, yafunu, ne dwensɔtwaa ketewa (duodenum) no atifi fã.

Ɛdenam nea efii nhwehwɛmu no mu bae so no, ebia ɛho behia sɛ wɔyɛ nipadua mu nhwehwɛmu de kyerɛ sɛ ebia kokoram nkwammoaa wɔ ntini a ɛnteɛ no mu anaa.

So wobetumi asiw PHTS ano?

Ɔkwan biara nni hɔ a wɔbɛfa so asiw PHTS ano. Nanso, kokoram ho nhwehwɛmu a wɔyɛ daa no betumi aboa ma wɔahu kokoram ntɛm, bere a wobetumi asa no kɛse no. Enti, ɛho hia sɛ woyɛ saa nhwehwɛmu ahorow yi sɛnea wo duruyɛfo kyerɛ no.

Daakye bɛn na obi a ɔwɔ PHTS betumi ahwɛ kwan?

Wo daakye gyina nneɛma pii so, a wo sɛnkyerɛnne ne w’akwahosan nyinaa ka ho. Sɛ wowɔ PHTS/Cowden syndrome a, asiane a ɛwɔ hɔ sɛ wubenya kokoram ahorow bi no yɛ kɛse. Ɛno nti na kokoram ho nhwehwɛmu ho hia kɛse no. Kokoram a wobɛkyere na woasa no ntɛm no ne ɔkwan a eye sen biara a wobɛfa so ama hokwan a wowɔ sɛ wo ho bɛtɔ wo (prognosis) no atu mpɔn.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Di wo duruyɛfo akwankyerɛ a ɛfa mpɛn dodow a ɛsɛ sɛ wohwehwɛ kokoram ho no akyi. Ɛho hia nso sɛ wuhu kokoram ho kɔkɔbɔ nsɛnkyerɛnne . Bisa wo duruyɛfo no sɛnkyerɛnne ahorow a ɛsɛ sɛ wohwɛ yiye.

Sɛ wuhu sɛ wo anaa wo ba wɔ tebea bi te sɛ PHTS a, ebetumi ayɛ osuahu a emu yɛ den yiye. Ɛyɛ tebea a ehia sɛ wɔde wɔn adwene si so bere nyinaa. Ebetumi ahaw nnipa pii. Nanso, sɛ wunya kokoram a, sɛ wohwɛ wo yiye a, ebetumi aboa kɛse ma woagye wo nkwa anaasɛ wobɛma akyɛ. Sɛ wohu sɛ wowɔ PHTS a, hwɛ hu sɛ wubesua w’akwahosan ho asiane ahorow, sɛnea w’aduruyɛfo kuw no bɛhwɛ w’akwahosan so, ne sɛnea w’ayaresa nhyehyɛe no betumi ama w’akwahosan a ɛtra hɔ kyɛ no atu mpɔn.

Ɔkwan bɛn so na PTEN awosu mu abɔde no de kokoram ba?

Sɛnea yɛadi kan aka ho asɛm no, nsakrae a ɛba PTEN awosu mu abɔde mu no betumi ama nkwammoaa anyin a wontumi nni so na ayɛ akisikuru. Ɛwom sɛ PHTS taa bata akisikuru a ɛnyɛ kokoram a wɔfrɛ no hematomas ho de, nanso saa nkwammoaa nyin a wontumi nni so yi nso betumi ama wɔanya kokoram akisikuru. Nkwammoaa a ɛpaapae ntɛmntɛm na ɛde akisikuru ahorow abien no nyinaa ba. Bere a akisikuru a ɛnyɛ kokoram wɔ baabi no, akisikuru a kokoram wom betumi atrɛw akɔ nipadua no mu nyinaa (ɛkɔ mmeae afoforo) . Sɛ wɔyɛ saa a, kokoram nkwammoaa no sɛe ntini a ɛte apɔw.

Nsɛm ntiantiaa a ɛsɛ sɛ yɛkae

Okay, enti momma yɛnsan nsusuw nneɛma a ɛho hia paa a ɛsɛ sɛ yɛkae wɔ PHTS a yɛkaa ho asɛm no ho:

• PHTS yɛ tebea a ɛnam nkwaadɔm mu nsakrae a ɛba wɔ awosu mu abɔde bi a wɔfrɛ no `PTEN` mu. Saa awosu mu abɔde yi boa ma yɛhwɛ ma yɛn nkwammoaa no nyin.
• Saa tebea yi betumi ama akuru a ɛnyɛ kokoram (hematomas) ne nneɛma afoforo a enyin aba nipadua no afã horow.
• Nnipa a wɔwɔ PHTS, titiriw wɔn a wɔwɔ Cowden syndrome no, wɔ asiane kɛse mu sɛ wobenya kokoram ahorow bi (te sɛ nufu, thyroid, asaabo, awotwaa, ne akyi berɛmo mu kokoram).
• Eyi yɛ tebea a wobetumi anya afi awo mu . Sɛ wowɔ bi a, wo mma wɔ hokwan 50% sɛ wobenya bi.
• Mprempren wontumi nsa PHTS koraa. Nanso, wobetumi adi sɛnkyerɛnne ahorow no so na wɔadi asiane a ɛwɔ hɔ sɛ wobenya kokoram no so.
• Kokoram ho nhwehwɛmu a wɔyɛ no daa betumi agye nkwa, efisɛ sɛ wohu ntɛm a, ɛda adi sɛ wɔbɛsa kokoram na wɔasa.
• Sɛ wo anaa w’abusua mu obi wɔ saa sɛnkyerɛnne ahorow yi a, hwɛ hu sɛ wobɛhwehwɛ aduruyɛfo afotu. Awosu mu nhwehwɛmu ne aduruyɛ mu nhwehwɛmu a ɛfata ho hia yiye.

Mma wo ho nnyɛ wo hu, nanso nea ɛho hia sen biara ne sɛ wobɛbɔ wo amanneɛ. Sɛ wowɔ nsɛmmisa foforo biara a, ntwentwɛn wo nan ase sɛ wo ne wo duruyɛfo bɛkasa.

` PTEN, Hematoma, Tumor, Syndrome, Awosu mu Nsakrae, Kokoram, Cowden Yare, BRRS