Ngaba unamaqhuma angaqhelekanga emzimbeni wakho? Oku kusenokuba yi-PTEN Hamartoma Tumor Syndrome (PHTS)!

Ngaba wakha waphawula amaqhuma okanye amaqhuma angaqhelekanga emzimbeni wakho okanye kumntu othile kusapho lwakho? Amanye awo asenokubonakala ngathi akukho nto ibalulekileyo, kodwa ngamanye amaxesha anokuba ziimpawu zesifo esithile. Namhlanje, siza kuthetha ngesinye sezo meko ekufuneka uzixhalabise ngazo.

Yintoni i-PTEN Hematoma Tumor Syndrome (PHTS)?

Ngamafutshane, i-PTEN Hamartoma Tumor Syndrome (PHTS) liqela lezifo ezibangelwa lutshintsho, okanye utshintsho, kwijini ebizwa ngokuba yi-'PTEN' emizimbeni yethu. Ngoku usenokuba ubuza ukuba yintoni ijini ye-'PTEN'. Khawuthelekelele ukuba kukho umntu emzimbeni wethu olawula ukukhula kweeseli, osebenza njengomlindi. Yiyo loo nto le jini ye-'PTEN' injalo. Le yijini ye-'tumor suppressor' . Into eyenzayo kukuvelisa 'i-enzyme' ethintela iiseli zethu ekukhuleni ngokungalawulekiyo nokwenza iithumba.

Ngoko ke, xa kukho utshintsho, okanye isiphene, kule gene ye-'PTEN', ulawulo lokukhula kweeseli alusebenzi kakuhle. Emva koko iiseli ziqala ukukhula ngokungalawulekiyo, kwaye izinto ezibizwa ngokuba yi -'hamartomas' zinokwakheka. I-hamartoma kukukhula okungengomhlaza ('okungenabungozi') , okungekho yingozi, okufana nethumba. Ukuba une-PHTS, usemngciphekweni omkhulu wokukhula kwezi ntlobo zee-hematomas kunye nezinye iithumba ezingezizo zomhlaza. Kwakhona, ngamanye amaxesha kukho umngcipheko weethumba ezibangelwa ngumhlaza ('okubi kakhulu') , oko kuthetha umhlaza.

Zeziphi iintlobo ze-syndromes eziwela phantsi kodidi lwe-PHTS?

Olu didi lubanzi lwe-PHTS luquka ii-syndromes ezimbini eziphambili: i-Cowden syndrome kunye ne-Bannayan-Riley-Ruvalcaba syndrome (BRRS) . Oogqirha babezijonga ezi zimbini njengeemeko ezahlukeneyo, kodwa ngoku zombini zidibene notshintsho kwi-gene ye-PTEN, ngoko ke zahlulwe phantsi kwegama elifanayo, i-PHTS.

Iingozi zempilo ezijongene nomntu one-PHTS, nokuba yiCowden syndrome okanye i-BRRS, ziyafana kakhulu. Ngamanye amaxesha, umntu one-PHTS unokufumana iimpawu ezinxulumene nazo zombini ezi syndromes ebomini bakhe.

• Isifo sikaCowden: Esi sixhaphake kakhulu kubantu abadala. Aba bantu banokuba neethumba ezinobungozi nezinobungozi. Ezi thumba zihlala zifumaneka emabeleni, esibelekweni, kwindlala ye-thyroid, kwindlela yokugaya ukutya, kulusu, elulwimini nasezintsinini.
• I-Bannayan-Riley-Ruvalcaba syndrome (BRRS): Oku kuchaphazela kakhulu abantwana abancinci. Abantwana abane-BRRS banokuba neethumba zesikhumba kunye neempawu zokuzalwa. Banokuba nokulibaziseka kokukhula .

Zithini iimpawu ze-PHTS?

I-PHTS inokubangela ukuba ii-hematomas zakheke kwiithishu ezahlukeneyo zomzimba wakho. Iimpawu ezichanekileyo ozifumanayo ziya kwahluka ngokuxhomekeke kuhlobo lwe-PHTS onalo. Ngokubanzi, ukuba une-PHTS, unokufumana enye okanye ngaphezulu kwezi mpawu zilandelayo:

Amabala esikhumba kunye namathumba

• Izihluma ezincinci ezibonakala ngathi zixhonywe eluswini (iithegi zesikhumba okanye ii-acrochordons) .
• Amabala amnyama, athe tyaba ezintendeni nasezinyaweni zeenyawo (i-palmoplantar keratoses ).
• Amaqhuma amancinci, agudileyo ebusweni (ii-trichilemmomas ).
• Amaqhuma aphakamileyo anombala wesikhumba ( ii-papillomas ).
• Iithumba ezinamafutha ( ii-lipomas ) ezikhula phantsi kolusu.
• Amaqhuma aqinileyo afana neentsini ngaphakathi emlonyeni (oral fibromas ).
• Ukukhula kwemithambo yegazi okubonakalayo kumphezulu wesikhumba ( i-hemangiomas kunye neempawu zokuzalwa ).
• Amabala kwilungu lobudoda ('amabala kwilungu lobudoda ').

Iintlobo zeethumba ezingezizo ezomhlaza (`Benign`)

• Amaqhuqhuva e-thyroid ( amaqhuqhuva kwi-thyroid gland).
• Ukwanda kwe-thyroid gland ngokwenziwa kwamaqhuqhuva aliqela (ii-multinodular goiters ).
• Iithumba kwisibeleko ( ii-uterine fibroids ).
• Iifibroadenomas zebele .
• Utshintsho lwezicubu ezithambileyo ze-cystic emabeleni ( amabele e-fibrocystic ).
• Ukukhula okuncinci okwakheka kwindawo ephezulu yendlela yokugaya ukutya kunye namathumbu amakhulu (ii-colon polyps ).

Iingxaki zobuchopho nophuhliso

• Ukuba nentloko enkulu kuneqhelekileyo (i-macrocephaly ).
• Ukuba nentloko ende ngakumbi ( dolichocephaly ).
• Ukulibaziseka kophuhliso .
• Ingxaki ye-Autism spectrum (ingxaki ye-Autism spectrum ).

Yintoni ebangela i-PHTS?

Njengoko besikhe sathetha ngaphambili, unobangela oyintloko we-PHTS kukuguquka, okanye utshintsho, kwi-'PTEN' gene. Le 'PTEN' gene inoxanduva lokukhupha 'i-enzyme' enika imiqondiso kwiiseli ukuba ziyeke ukwahlukana kwaye inika imiqondiso yokuba iseli kufuneka ife nini ('apoptosis'). Oku ke kuvula indawo yeeseli ezintsha neziphilileyo.

Kwi-PHTS, i-PTEN gene ayisebenzi kakuhle. Ngenxa yoko, iiseli zinokuqhubeka zahlukana kwaye zikhula ngendlela engalawulekiyo. Ekugqibeleni, ezi seli zinokukhula kunye ukuze zenze iithumba. Nangona ezi thumba zihlala zingenabungozi, ngamanye amaxesha zinokuba ngumhlaza.

I-PHTS yimeko yemfuza edluliselwa kwizizukulwana ngezizukulwana.Oko kuthetha ukuba abantwana banokufumana eli jini liguqukileyo kubazali babo.

I-PHTS ivela njani kwisizukulwana?

Ufumana i-PHTS njengefa ngendlela ethi "autosomal dominant" . Uyazi ukuba kuthetha ukuthini oko? Sonke sineekopi ezimbini ze-"PTEN" gene emizimbeni yethu. Enye ivela kumama wethu, enye ivela kubaba wethu. Kwimeko ye-PHTS, ufumana ikopi enye esempilweni ye-"PTEN" gene kunye nekopi enye "eguquliweyo". Nokuba unekopi enye esempilweni, i-"PTEN" gene eguquliweyo ibangela iingxaki ezinxulumene ne-PHTS. Oku kuthetha ukuba nokuba mnye kuphela umzali one-gene eguquliweyo, kukho amathuba angama-50% okuba umntwana wakhe ayifumane.

Ngamanye amaxesha, awuzuzi ilifa le-PTEN gene eguquliweyo kubazali bakho. Endaweni yoko, utshintsho lunokukhula ngaphambi kokuba uzalwe, nokuba usesibelekweni okanye usana olungekazalwa .

Nokuba ufumana njani olu tshintsho, ukuba unalo, umntwana wakho unethuba elingama-50% lokufumana olo tshintsho lwe-gene.

Iyintoni ingozi yomhlaza enxulumene ne-PHTS?

Ukuba uneCowden syndrome, usemngciphekweni omkhulu wokufumana iintlobo ezithile zomhlaza kunabantu ngokubanzi. Ngoko ke, kufuneka uhlolwe umhlaza ubomi bakho bonke ukuze ukwazi ukulawula lo mngcipheko. Nangona ezi mvavanyo zingenakuthintela umhlaza ukuba ungakhuli, ukuba zifunyenwe kwangethuba, unyango lunokuqaliswa kwangethuba kwaye iziphumo zingaba ngcono.

Iintlobo zomhlaza onokuba semngciphekweni omkhulu wazo zezi:

• Umhlaza webele
• Umhlaza we-thyroid
• Umhlaza wezintso
• Umhlaza wesibeleko
• Umhlaza weColoral
• I-Melanoma, umhlaza wolusu

Uphando olongezelelekileyo lusaqhubeka malunga nomngcipheko womhlaza onxulumene ne-BRRS.

Ifunyaniswa njani i-PHTS?

Ugqirha wakho uza kugqiba ukuba ngaba une-PHTS na ukuba bafumana utshintsho kwi-gene ye-PTEN. Kuya kufuneka wenze uvavanyo lwe-genetic ukuze ubone ukuba unayo na olu tshintsho. Oku kudla ngokwenziwa ngovavanyo lwegazi .

Kukho izikhokelo zovavanyo lwemfuza zokuxilonga iCowden syndrome (umzekelo, ezivela kwiNational Comprehensive Cancer Network kunye neCleveland Clinic). Ezi zikhokelo zihlaziywa rhoqo ngokusekelwe kuphando olutsha. I-International Cowden Consortium ikwamisele iindlela zokuchonga iCowden syndrome. Ugqirha wakho uya kugqiba ukuba ngaba uyaludinga olu vavanyo ngokusekelwe kwiimpawu zakho, imbali yosapho lwakho yeethumba, kunye nokuba unayo na i-PTEN mutation.

Nangona kungekho zikhokelo ziqhelekileyo zokuxilonga i-BRRS, ugqirha wakho unokucebisa uvavanyo olufanayo nolo lusetyenziswa ukuxilonga i-Cowden syndrome.

Eyona nto ibalulekileyo kukuba ukuba uqinisekisiwe ukuba unayo le nguqu, kubaluleke kakhulu ukuba namanye amalungu osapho lwakho nawo afumane olu vavanyo.

Ngaba i-PHTS inganyangeka ngokupheleleyo?

Ngelishwa, okwangoku akukho nyango lwe-PHTS. Nangona kunjalo, izazinzulu ziyaqhubeka nophando malunga nokuba loluphi unyango olusebenza kakuhle kumhlaza olune-PTEN mutation.

Iphathwa kwaye ilawulwa njani i-PHTS?

Ukuba une-PHTS, unokuba neqela loogqirha abakukhathalelayo ngempilo yakho. Baza kukunceda ulawule yonke into ukusuka kwiimpawu zakho ukuya ekukhuleni okungaqhelekanga ukuya ekulibazisekeni kokukhula. Baza kuvavanya nomngcipheko wakho womhlaza baze bagqibe ukuba kufuneka uhlolwe kangaphi umhlaza.

Iindlela zonyango

Nangona kungekho zikhokelo zithile zokunyanga iithumba, ezinomhlaza okanye ezingezizo umhlaza, ngotshintsho lwe-PTEN, unyango luya kuxhomekeka kwiimpawu zakho. Olu nyango lungabandakanya:

• Utyando: Ukususwa kwezicubu ezingaqhelekanga. Ngaphambi kotyando, ugqirha angathabatha isampuli yezicubu ukujonga iiseli zomhlaza ( i-biopsy ).
• I-Cryotherapy: Ukusetyenziswa komkhuhlane omkhulu ukutshabalalisa izicubu ezingaqhelekanga.
• Ukususwa kwezicubu nge-laser: Ukusetyenziswa kobushushu obuphezulu ukutshabalalisa izicubu ezingaqhelekanga.
• Iikhrimu ezisetyenziswa ngamayeza: Iikhrimu ezikhethekileyo ezenzelwe ukutshabalalisa iithumba zolusu.

Uvavanyo lomhlaza

Ukuba uneCowden syndrome, kuya kufuneka uhlolwe rhoqo, ubomi bakho bonke ukuze ujonge zombini izihluma ezingezizo zomhlaza nezomhlaza. Oku kuthetha ukuba ukuba kukho naziphi na iingxaki ezivelelayo, zinokufunyanwa kwangethuba, ngexesha elifanelekileyo lokuzinyanga. Nangona kungekho zikhokelo ziqhelekileyo zokujonga abantu abane-BRRS, ugqirha wakho unokucebisa uvavanyo olufana nolwenziwe kwiCowden syndrome.

Ezi ndlela zovavanyo zingabandakanya oku kulandelayo, okwenziwa rhoqo:

• IiMammogram: Uvavanyo olusebenzisa iiX-rays eziphantsi ukuthatha imifanekiso yezicubu zebele.
• IiMRI zesifuba: Uvavanyo olusebenzisa imagnethi enkulu kunye namaza erediyo ukuthatha imifanekiso yezicubu zesifuba.
• I-Ultrasound: Uvavanyo olusebenzisa amaza esandi ukuthatha imifanekiso yezicubu zebele.
• Iikholonoscopies: Uvavanyo olujonga ngaphakathi emathunjini amakhulu kusetyenziswa ityhubhu efakwe ikhamera (i-scope). Le tyhubhu ingasetyenziselwa ukususa ii-polyps. Oku kunokuthintela ukukhula ngaphambi kokuba kube ngumhlaza.
• I-Endoscopy (`Ii-Endoscopy`):Uvavanyo apho kufakwa ityhubhu (scope) enekhamera eqhotyoshelweyo ukujonga umphimbo, isisu, kunye nenxalenye ephezulu yamathumbu amancinci (i-duodenum).

Ngokuxhomekeke kwiziphumo zovavanyo, i-biopsy inokufuneka ukuqinisekisa ukuba izicubu ezingaqhelekanga zinayo na iiseli zomhlaza.

Ngaba i-PHTS ingathintelwa?

Akukho ndlela yokuthintela i-PHTS. Nangona kunjalo, ukuvavanywa rhoqo komhlaza kunokunceda ekufumaneni umhlaza kwangethuba, xa unganyangeka kakhulu. Ke ngoko, kubalulekile ukuba olu vavanyo luhlolwe njengoko ugqirha wakho eyalele.

Luhlobo luni lwekamva umntu one-PHTS anokulilindela?

Ikamva lakho lixhomekeke kwizinto ezininzi, kuquka iimpawu zakho kunye nempilo iyonke. Ukuba une-PHTS/Cowden syndrome, usengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza. Yiyo loo nto ukuxilongwa komhlaza kubaluleke kakhulu. Ukuyifumana nokunyanga umhlaza kwangethuba yeyona ndlela ilungileyo yokuphucula amathuba akho okuchacha (ukuxela kwangaphambili).

Ndifanele ndimbone nini ugqirha?

Landela imiyalelo kagqirha wakho malunga nokuba kufuneka uhlolwe kangaphi umhlaza. Kubalulekile nokwazi iimpawu ezilumkisayo zomhlaza. Buza ugqirha wakho ukuba zeziphi iimpawu ekufuneka uzazi.

Ukufumanisa ukuba wena okanye umntwana wakho unemeko efana ne-PHTS kunokuba ngamava anzima kakhulu. Yimeko efuna ingqalelo rhoqo. Inokuba yingxaki kubantu abaninzi. Nangona kunjalo, ukuhlolwa ngononophelo kunokunceda kakhulu ekusindiseni okanye ekwandiseni ubomi bakho ukuba unesifo somhlaza. Ukuba ufunyaniswe une-PHTS, qiniseka ukuba ufunda ngemingcipheko yempilo yakho, indlela iqela lakho lezonyango eliza kuyijonga ngayo impilo yakho, kunye nendlela isicwangciso sakho sonyango esinokuyiphucula ngayo impilo yakho yexesha elide.

I-PTEN gene ibangela njani umhlaza?

Njengoko besixoxile ngaphambili, utshintsho kwi-PTEN gene lunokubangela ukuba iiseli zikhule ngokungalawulekiyo kwaye zenze ii-tumor. Nangona i-PHTS idla ngokunxulunyaniswa nee-tumor ezingezizo umhlaza ezibizwa ngokuba yi-hematomas, oku kukhula kweeseli okungalawulekiyo kunokukhokelela kwii-tumor ezinomhlaza. Zombini ezi ntlobo zee-tumor zibangelwa ziiseli ezahlukana ngokukhawuleza. Nangona ii-tumor ezingezizo umhlaza zifumaneka kwindawo ethile, ii-tumor ezinomhlaza zinokusasazeka emzimbeni wonke (i-metastasize) . Xa zisenzeka, iiseli zomhlaza zonakalisa izicubu eziphilileyo.

Amanqaku amafutshane ekufuneka uwakhumbule

Kulungile, makhe siphinde sichaze ezinye zezona zinto zibalulekileyo ekufuneka sizikhumbule malunga ne-PHTS esithethe ngazo:

• I-PHTS yimeko ebangelwa kukuguquka kwejini ebizwa ngokuba yi-'PTEN'. Le jini inceda ekulawuleni ukukhula kweeseli zethu.
• Le meko inokubangela ukuba kubekho amaqhuma angengomhlaza (ii-hematomas) kunye nezinye izimila kwiindawo ezahlukeneyo zomzimba.
• Abantu abane-PHTS, ingakumbi abo bane-Cowden syndrome, basengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza (ezifana nomhlaza webele, we-thyroid, wezintso, wesibeleko kunye nowe-colon).
• Le yimeko enokuzuzwa njengelifa . Ukuba unayo, abantwana bakho banethuba elingama-50% lokuyifumana njengelifa.
• I-PHTS ayinakunyangwa ngokupheleleyo okwangoku. Nangona kunjalo, iimpawu zinokulawulwa kwaye umngcipheko womhlaza unokulawulwa.
• Ukuhlolwa rhoqo komhlaza kunokusindisa ubomi, njengoko umhlaza unokuthi unyangwe kwaye unyangeke ukuba ufunyenwe kwangethuba.
• Ukuba wena okanye umntu osapho lwakho unezi mpawu, qiniseka ukuba ufuna ingcebiso kagqirha. Uvavanyo lwemfuza kunye nokubekwa esweni ngokufanelekileyo kwezonyango kubaluleke kakhulu.

Musa ukoyika, kodwa eyona nto ibalulekileyo kukwazi. Ukuba unemibuzo engaphezulu, ungathandabuzi ukuthetha nogqirha wakho.

I- PTEN, iHematoma, iTumor, iSyndrome, uGuquguquko lweZizakhi zofuzo, uMhlaza, iCowden Syndrome, iBRRS