Ingabe ubhekene namaqhubu angavamile emzimbeni wakho? Lokhu kungaba yi-PTEN Hamartoma Tumor Syndrome (PHTS)!

Wake waphawula amaqhubu noma amaqhubu angajwayelekile emzimbeni wakho noma komunye umuntu emndenini wakho? Amanye awo angase abonakale sengathi akukho okufanele akhathazeke ngawo, kodwa ngezinye izikhathi angaba izimpawu zesimo sempilo. Namuhla, sizokhuluma ngesinye salezo zimo okufanele ukhathazeke ngazo.

Iyini i-PTEN Hematoma Tumor Syndrome (PHTS)?

Kalula nje, i-PTEN Hamartoma Tumor Syndrome (PHTS) iyiqembu lezifo ezibangelwa ushintsho, noma ukuguquka kwezakhi zofuzo okuthiwa i-'PTEN' emzimbeni wethu. Manje ungase ubuze ukuthi iyini i-'PTEN' gene. Cabanga ukuthi kukhona umuntu emzimbeni wethu olawula ukukhula kwamaseli, osebenza njengomlindi. Yilokho kanye le gene 'PTEN' eyikho. Lena 'i-tumor suppressor gene' . Lokho ekwenzayo ukukhiqiza 'i-enzyme' evimba amaseli ethu ekukhuleni ngokungalawuleki futhi akhe amathumba.

Ngakho-ke, uma kukhona ukuguquka kwezakhi zofuzo, noma iphutha, kulesi sakhi sofuzo i-'PTEN', ukulawulwa kokukhula kwamaseli akusebenzi kahle. Ngemuva kwalokho amaseli aqala ukukhula ngokungalawuleki, futhi izinto ezibizwa ngokuthi 'ama-hamartoma' zingakheka. I-hamartoma iwukukhula okungewona umdlavuza ('okungenabungozi') , okungenangozi, okufana nesimila. Uma une-PHTS, usengozini enkulu yokuthola lezi zinhlobo zama-hematoma nezinye izimila ezingewona umdlavuza. Futhi, ngezinye izikhathi kunengozi yokuba nezimila ezinomdlavuza ('okubi kakhulu') , okusho umdlavuza.

Yiziphi izinhlobo ze-syndromes eziwela ngaphansi kwesigaba se-PHTS?

Lesi sigaba esibanzi se-PHTS sihlanganisa ama-syndrome amabili ayinhloko: i-Cowden syndrome kanye ne-Bannayan-Riley-Ruvalcaba syndrome (BRRS) . Odokotela babevame ukubheka lezi zimo ezimbili njengezimo ezihlukene, kodwa manje zombili zixhunyaniswe nokuguquka kwezakhi zofuzo ze-PTEN, ngakho-ke ziqoqwe ngaphansi kwegama elifanayo, i-PHTS.

Izingozi zempilo umuntu one-PHTS abhekene nazo, kungaba yi-Cowden syndrome noma i-BRRS, zifana kakhulu. Ngezinye izikhathi, umuntu one-PHTS angase abe nezimpawu ezihlobene nalezi zifo zombili ngesikhathi sokuphila kwakhe.

• I-Cowden syndrome: Lokhu kuvame kakhulu kubantu abadala. Laba bantu bangahlakulela izimila ezingenabungozi kanye nezimbi. Lezi zimila zivame ukuvela ebeleni, esibelethweni, endlaleni ye-thyroid, endleleni yokugaya ukudla, esikhumbeni, olimini nasezinsinini.
• I-Bannayan-Riley-Ruvalcaba syndrome (BRRS): Lokhu kuthinta kakhulu izingane ezincane. Izingane ezine-BRRS zingaba nezimila zesikhumba kanye nezibazi zokuzalwa. Zingase futhi zibhekane nokubambezeleka kokukhula .

Ziyini izimpawu ze-PHTS?

I-PHTS ingabangela ukwakheka kwama-hematoma ezicutshini ezahlukahlukene zomzimba wakho. Izimpawu eziqondile ozibonayo zizohluka kuye ngohlobo lwe-PHTS onalo. Ngokuvamile, uma une-PHTS, ungase ube nezimpawu ezilandelayo noma ngaphezulu:

Amabala esikhumba namathumba

• Izimila ezincane ezibonakala zilenga esikhumbeni (amathegi esikhumba noma ama-acrochordons) .
• Amabala amnyama, ayisicaba ezintendeni nasematheni ezinyawo (i-palmoplantar keratoses ).
• Amaqhubu amancane, abushelelezi ebusweni (ama-trichilemmomas ).
• Amaqhubu aphakanyisiwe anombala wesikhumba (ama- papillomas ).
• Izimila ezinamafutha ( ama-lipomas ) ezikhula ngaphansi kwesikhumba.
• Amaqhubu aqinile afana nezinsini ngaphakathi emlonyeni (ama-oral fibromas ).
• Ukukhula kwemithambo yegazi okubonakalayo ebusweni besikhumba ( ama-hemangioma kanye nezimpawu zokuzalwa ).
• Amabala ezithweni zangasese zowesilisa ('amabala ezithweni zakho zobulili ').

Izinhlobo zezimila ezingezona umdlavuza (`Benign`)

• Amaqhubu e-thyroid ( izigaxa e-thyroid gland).
• Ukwanda kwendlala yegilo ngokwakhiwa kwamaqhubu amaningana (ama-goiter amaningi ).
• Izimila esibelethweni ( ama-fibroids esibelethweni ).
• Ama-fibroadenomas esifubeni .
• Izinguquko zezicubu ezithambile ze-cystic emabeleni ( amabele e-fibrocystic ).
• Ukukhula okuncane okwakheka engxenyeni engenhla yomgudu wokugaya ukudla kanye namathumbu amakhulu (ama-colon polyps ).

Izinkinga zobuchopho kanye nokukhula

• Ukuba nekhanda elikhulu kunelijwayelekile (i-macrocephaly ).
• Ukuba nekhanda elide kakhulu ( i-dolichocephaly ).
• Ukulibaziseka kokukhula .
• Isifo se-Autism spectrum (isifo se-Autism spectrum ).

Yini ebangela i-PHTS?

Njengoba sesixoxile ngaphambili, imbangela eyinhloko ye-PHTS ukuguquka, noma ushintsho, ku-gene ye-'PTEN'. Le gene ye-'PTEN' inesibopho sokukhulula i-'enzyme' enika amaseli uphawu lokuthi ayeke ukuhlukana futhi inika uphawu lokuthi iseli kufanele life nini ('apoptosis'). Lokhu-ke kuvula indawo yamaseli amasha, anempilo.

Ku-PHTS, i-PTEN gene ayisebenzi kahle. Ngenxa yalokho, amaseli angaqhubeka nokuhlukana futhi akhule ngendlela engalawuleki. Ekugcineni, la maseli angakhula ndawonye ukuze akhe amathumba. Nakuba la mathumba ngokuvamile engengozi, ngezinye izikhathi angaba umdlavuza.

I-PHTS yisimo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane.Lokho kusho ukuthi izingane zingazuza leli jini eliguquliwe kubazali bazo.

I-PHTS ivela kanjani ohlwini lozalo?

Uthola i-PHTS ngendlela "eyi-autosomal dominant" . Uyazi ukuthi kusho ukuthini lokho? Sonke sinamakhophi amabili esakhi sofuzo "se-PTEN" emizimbeni yethu. Elinye livela kumama wethu, elinye livela kubaba wethu. Endabeni ye-PHTS, uthola ikhophi eyodwa enempilo yesakhi sofuzo "se-PTEN" kanye nekhophi eyodwa "eguquliwe". Ngisho noma unekhophi eyodwa enempilo, isakhi sofuzo "se-PTEN" esiguquliwe sibangela izinkinga ezihambisana ne-PHTS. Lokhu kusho ukuthi noma ngabe oyedwa kuphela kubazali unesakhi sofuzo esiguquliwe, kunethuba elingu-50% lokuthi ingane yabo izosizuza njengefa.

Ngezinye izikhathi, awuzuzi ifa le-PTEN eliguquliwe kubazali bakho. Kunalokho, ukuguquka kungavela ngaphambi kokuba uzalwe, kungaba njengombungu noma njengombungu .

Kungakhathaliseki ukuthi uthola kanjani lolu guquko, uma unalo, ingane yakho inethuba elingu-50% lokuthola ikhophi yofuzo oluguquliwe.

Iyini ingozi yomdlavuza ehlotshaniswa ne-PHTS?

Uma une-Cowden syndrome, usengozini enkulu yokuthola izinhlobo ezithile zomdlavuza kunabantu abaningi. Ngakho-ke, kufanele uhlolwe umdlavuza impilo yakho yonke ukuze ulawule le ngozi. Nakuba lezi zivivinyo zingenakukuvimbela ukuthi umdlavuza ungakhuli, uma zitholakala kusenesikhathi, ukwelashwa kungaqalwa kusenesikhathi futhi imiphumela ingaba ngcono.

Izinhlobo zomdlavuza ongase ube sengozini enkulu yokuzithola yilezi:

• Umdlavuza webele
• Umdlavuza we-thyroid
• Umdlavuza wezinso
• Umdlavuza wesibeletho
• Umdlavuza we-Colorectal
• I-Melanoma, umdlavuza wesikhumba

Ucwaningo olwengeziwe lusaqhubeka ngengozi yomdlavuza ehlobene ne-BRRS.

Itholakala kanjani i-PHTS?

Udokotela wakho uzonquma ukuthi une-PHTS yini uma bethola uguquko ku-PTEN gene. Kuzodingeka uhlolwe izakhi zofuzo ukuze ubone ukuthi unalo lolu guquko. Lokhu kuvame ukwenziwa ngokuhlolwa kwegazi .

Kuneziqondiso zokuhlola izakhi zofuzo zokuxilonga i-Cowden syndrome (isibonelo, ezivela ku-National Comprehensive Cancer Network kanye ne-Cleveland Clinic). Lezi ziqondiso zivuselelwa njalo ngokusekelwe ocwaningweni olusha. I-International Cowden Consortium nayo isungule izindlela zokuxilonga i-Cowden syndrome. Udokotela wakho uzonquma ukuthi uyaludinga yini lolu vivinyo ngokusekelwe ezimpawu zakho, umlando womndeni wezimila, kanye nokuthi une-PTEN mutation.

Nakuba kungekho ziqondiso ezijwayelekile zokuxilonga i-BRRS, udokotela wakho angase ancome ukuhlolwa okufanayo nalezo ezisetshenziselwa ukuxilonga i-Cowden syndrome.

Into ebaluleke kakhulu ukuthi uma kuqinisekiswe ukuthi unalolu shintsho, kubaluleke kakhulu ukuthi namanye amalungu omndeni wakho athole lolu vivinyo.

Ingabe i-PHTS ingalapheka ngokuphelele?

Ngeshwa, okwamanje akukho ukwelashwa kwe-PHTS. Kodwa-ke, ososayensi bayaqhubeka nokucwaninga ukuthi yiziphi izindlela zokwelapha ezisebenza kahle kakhulu kumdlavuza one-PTEN mutation.

Iphathwa futhi iphathwa kanjani i-PHTS?

Uma une-PHTS, ungase ube nethimba lodokotela abanakekela impilo yakho. Bazokusiza ukuphatha konke kusukela ezimpawini zakho kuya ekukhuleni okungavamile kuya ekubambezelekeni kokukhula. Bazohlola nengozi yomdlavuza wakho futhi banqume ukuthi kufanele uhlolwe kangaki umdlavuza.

Izindlela zokwelapha

Nakuba kungekho ziqondiso ezithile zokwelapha izimila, ezinomdlavuza noma ezingezona umdlavuza, ngokuguqulwa kwe-PTEN, ukwelashwa kuzoncika ezimpawini zakho. Lokhu kwelashwa kungafaka:

• Ukuhlinzwa: Ukususwa kwezicubu ezingavamile. Ngaphambi kokuhlinzwa, udokotela angathatha isampula yezicubu ukuze ahlole amangqamuzana omdlavuza ( i-biopsy ).
• Ukwelashwa nge-Cryotherapy: Ukusetshenziswa komkhuhlane omkhulu ukubhubhisa izicubu ezingavamile.
• Ukususwa kwezicubu nge-laser: Ukusetshenziswa kokushisa okuphezulu ukubhubhisa izicubu ezingavamile.
• Okhilimu abasebenzisa imithi: Okhilimu abakhethekile abaklanyelwe ukubhubhisa izimila zesikhumba.

Ukuhlolwa komdlavuza

Uma une-Cowden syndrome, kuzodingeka ube nokuhlolwa okuvamile, impilo yonke ukuze kuqashwe kokubili ukukhula okungenawo umdlavuza kanye nomdlavuza. Lokhu kusho ukuthi uma kuvela noma yiziphi izinkinga, zingatholakala kusenesikhathi, ngesikhathi esifanele sokuzelapha. Nakuba kungekho ziqondiso ezijwayelekile zokuqapha abantu abane-BRRS, udokotela wakho angase ancome ukuhlolwa okufana nokwenziwe nge-Cowden syndrome.

Lezi zindlela zokuhlola zingafaka okulandelayo, okwenziwa njalo:

• Ama-Mammogram: Ukuhlolwa okusebenzisa ama-X-ray aphansi ukuthatha izithombe zezicubu zebele.
• I-MRI Yebele: Ukuhlolwa okusebenzisa i-magnet enkulu namagagasi omsakazo ukuthatha izithombe zezicubu zebele.
• I-Ultrasound: Ukuhlolwa okusebenzisa amaza omsindo ukuthatha izithombe zezicubu zebele.
• Ama-Colonoscopies: Ukuhlolwa okubheka ngaphakathi emathunjini amakhulu kusetshenziswa ithubhu elifakwe ikhamera (i-scope). Leli thubhu lingasetshenziswa futhi ukususa ama-polyp. Lokhu kungamisa ukukhula ngaphambi kokuba kube umdlavuza.
• I-Endoscopy (`I-Endoscopy`):Ukuhlolwa lapho kufakwa khona ithubhu (scope) enekhamera enamathiselwe ukuze kubhekwe umphimbo, isisu, kanye nengxenye engenhla yamathumbu amancane (i-duodenum).

Kuye ngemiphumela yokuhlolwa, kungadingeka i-biopsy ukuqinisekisa ukuthi izicubu ezingavamile zinamaseli omdlavuza.

Ingabe i-PHTS ingavinjelwa?

Ayikho indlela yokuvimbela i-PHTS. Kodwa-ke, ukuhlolwa njalo komdlavuza kungasiza ekutholeni umdlavuza kusenesikhathi, lapho ungelapheka khona kakhulu. Ngakho-ke, kubalulekile ukuba nalokhu kuhlolwa njengoba kuqondiswe udokotela wakho.

Hlobo luni lwekusasa umuntu one-PHTS angalulindela?

Ikusasa lakho lincike ezintweni eziningi, okuhlanganisa izimpawu zakho kanye nempilo yakho iyonke. Uma une-PHTS/Cowden syndrome, usengozini enkulu yokuthola izinhlobo ezithile zomdlavuza. Yingakho ukuhlolwa komdlavuza kubaluleke kakhulu. Ukubamba nokwelapha umdlavuza kusenesikhathi kuyindlela engcono kakhulu yokuthuthukisa amathuba akho okululama (ukubikezela).

Kufanele ngimbone nini udokotela?

Landela imiyalelo kadokotela wakho mayelana nokuthi kufanele uhlolwe kangaki umdlavuza. Kubalulekile futhi ukwazi izimpawu eziyisixwayiso zomdlavuza. Buza udokotela wakho ukuthi yiziphi izimpawu okufanele uzazi.

Ukuthola ukuthi wena noma ingane yakho ninesimo esifana ne-PHTS kungaba yinto enzima kakhulu. Yisimo esidinga ukunakekelwa njalo. Kungaba yinto ekhathazayo kubantu abaningi. Kodwa-ke, ukuhlolwa ngokucophelela kungasiza kakhulu ekusindiseni noma ekwandiseni impilo yakho uma uba nomdlavuza. Uma kutholakala ukuthi une-PHTS, qiniseka ukuthi ufunda ngezingozi zakho zempilo, ukuthi ithimba lakho lezokwelapha lizoyiqapha kanjani impilo yakho, nokuthi uhlelo lwakho lokwelashwa lungathuthukisa kanjani impilo yakho yesikhathi eside.

I-PTEN gene iwubangela kanjani umdlavuza?

Njengoba sixoxile ngaphambili, ukuguquka kwezakhi zofuzo ze-PTEN kungabangela amangqamuzana ukuba akhule ngokungalawuleki futhi akhe izimila. Nakuba i-PHTS ivame ukuhlotshaniswa nezimila ezingezona umdlavuza ezibizwa ngokuthi ama-hematomas, lokhu kukhula kwamangqamuzana okungalawulwa kungaholela nasezimila ezinomdlavuza. Zombili izinhlobo zezimila zibangelwa amangqamuzana ahlukana ngokushesha. Ngenkathi izimila ezingezona umdlavuza zitholakala endaweni ethile, izimila ezinomdlavuza zingasakazeka emzimbeni wonke (i-metastasize) . Uma zenza kanjalo, amangqamuzana omdlavuza alimaza izicubu ezinempilo.

Amaphuzu amafushane okufanele uwakhumbule

Kulungile, ake siphinde sixoxe ngezinye zezinto ezibaluleke kakhulu okufanele sizikhumbule nge-PHTS esikhulume ngazo:

• I-PHTS yisimo esibangelwa ukuguquka kwezakhi zofuzo okuthiwa i-`PTEN`. Lesi sakhi sofuzo sisiza ukulawula ukukhula kwamaseli ethu.
• Lesi simo singabangela ukwakheka kwamaqhubu angewona umdlavuza (ama-hematoma) kanye nezinye izimila ezingxenyeni ezahlukene zomzimba.
• Abantu abane-PHTS, ikakhulukazi labo abane-Cowden syndrome, basengozini enkulu yokuthola izinhlobo ezithile zomdlavuza (njengomdlavuza webele, we-thyroid, wezinso, wesibeletho kanye nowamathumbu amakhulu).
• Lesi yisimo esingazuzwa njengefa . Uma unaso, izingane zakho zinethuba elingu-50% lokusizuza njengefa.
• I-PHTS ayikwazi ukwelapheka ngokuphelele okwamanje. Kodwa-ke, izimpawu zingalawulwa futhi ingozi yomdlavuza ingalawulwa.
• Ukuhlolwa njalo komdlavuza kungasindisa impilo, njengoba umdlavuza unamathuba amaningi okwelashwa nokwelashwa uma utholakala kusenesikhathi.
• Uma wena noma othile emndenini wakho enalezi zimpawu, qiniseka ukuthi ufuna iseluleko sezokwelapha. Ukuhlolwa kofuzo kanye nokuqapha okufanele kwezokwelapha kubaluleke kakhulu.

Ungesabi, kodwa into ebaluleke kakhulu ukwaziswa. Uma uneminye imibuzo, ungangabazi ukukhuluma nodokotela wakho.

I- PTEN, i-Hematoma, i-Tumor, i-Syndrome, ukuguquka kwezakhi zofuzo, umdlavuza, i-Cowden Syndrome, i-BRRS