Uri kusangana nemapundu asingawanzoitiki pamuviri wako here? Izvi zvinogona kunge zviri PTEN Hamartoma Tumor Syndrome (PHTS)!

Wakamboona mapundu kana mapundu asingazivikanwe pamuviri wako kana wemumwe munhu wemumhuri mako here? Mamwe acho angaita seasina chekunetseka nawo, asi dzimwe nguva anogona kunge ari zviratidzo zvechirwere. Nhasi, tichataura nezvechimwe chezvirwere zvaunofanira kunetseka nazvo.

Chii chinonzi PTEN Hematoma Tumor Syndrome (PHTS)?

Zvichitaurwa zviri nyore, PTEN Hamartoma Tumor Syndrome (PHTS) iboka rezvirwere zvinokonzerwa nekuchinja, kana kuti kuchinja, mujini rinonzi `PTEN' mumuviri wedu. Iye zvino ungave uchibvunza kuti `PTEN' gene chii. Fungidzira kuti kune munhu mumuviri wedu anodzora kukura kwemasero, anoita semuchengeti. Ndizvo zvakaita jini iri re`PTEN'. Iri jini re`tumor suppressor` . Charinoita kugadzira `enzyme` inomisa masero edu kukura zvisingadzoreki uye kugadzira mabundu.

Saka, kana paine shanduko, kana chikanganiso, mujini iri re'PTEN', kudzora kukura kwemasero hakushande nemazvo. Zvadaro masero anotanga kukura zvisingadzoreki, uye zvinhu zvinonzi 'hamartomas' zvinogona kuumbwa. Hamartoma ikukura kusina kenza ('kusingakuvadzi') , kusina njodzi, kwakafanana nebundu. Kana uine PHTS, uri panjodzi yakakura yekuva nerudzi urwu rwemahematomas nemamwe mabundu asiri kenza. Zvakare, dzimwe nguva pane njodzi yekuva nekenza ('malignant') , mabundu, zvinoreva kenza.

Ndeapi marudzi ezvirwere zvinowira pasi pechikamu chePHTS?

Rudzi urwu rwakakura rwePHTS runosanganisira zvirwere zviviri zvikuru: Cowden syndrome neBannayan -Riley-Ruvalcaba syndrome (BRRS) . Vanachiremba vaimboona izvi sezvirwere zvakasiyana, asi ikozvino zvese zvakabatana nekuchinja kwemajini ePTEN, saka zvakaiswa muboka rimwe chete, PHTS.

Njodzi dzehutano dzinosangana nemunhu ane PHTS, ingava Cowden syndrome kana BRRS, dzakafanana zvikuru. Dzimwe nguva, munhu ane PHTS anogona kuona zviratidzo zvine chekuita nezvirwere zvese izvi muhupenyu hwake hwese.

• Cowden syndrome: Izvi zvinonyanya kuitika muvanhu vakuru. Vanhu ava vanogona kuita mamota asina njodzi uye ane kenza. Mamota aya anowanzoonekwa mumazamu, muchibereko, mugland re thyroid, mudumbu, paganda, parurimi, uye pamatadza.
• Chirwere cheBannayan-Riley-Ruvalcaba (BRRS): Izvi zvinonyanya kubata vana vadiki. Vana vane BRRS vanogona kuita bundu reganda uye mavanga ekuzvarwa nawo. Vanogonawo kusangana nekunonoka kukura .

Ndezvipi zviratidzo zvePHTS?

PHTS inogona kukonzera kuti hematomas iumbwe munyama dzakasiyana dzemuviri wako. Zviratidzo chaizvo zvaunoona zvinosiyana zvichienderana nerudzi rwePHTS yaunayo. Kazhinji, kana uine PHTS, unogona kusangana nechimwe kana kupfuura chezviratidzo zvinotevera:

Mavara eganda nemamota

• Matumbu madiki anoita seanorembera paganda (ganda kana kuti maacrochordons) .
• Mavara akasviba, akati sandara pazvanza nepasi petsoka (palmoplantar keratoses ).
• Mapundu madiki, akatsetseka pachiso (trichilemmomas ).
• Mapundu akakwidziridzwa ane ruvara rweganda ( papillomas ).
• Matumbu ane mafuta ( lipomas ) anokura pasi peganda.
• Mapundu akaomarara anoita semazino ari mumuromo (oral fibromas ).
• Kukura kwetsinga dzeropa kunoonekwa pamusoro peganda ( hemangiomas ne birthmarks ).
• Mavanga panhengo dzesikarudzi dzevarume ('mavanga panhengo yako yemurume ').

Mhando dzemabundu asina kenza (`Benign`)

• Mapundu e thyroid ( mapundu ari mu thyroid gland).
• Kukura kwegland re thyroid nekuumbwa kwemapundu akati wandei (multinodular goiters ).
• Mamota muchibereko ( uterine fibroids ).
• Ma fibroadenomas ezamu .
• Kuchinja kwenyama yakapfava mumazamu ( fibrocystic breasts ).
• Matumbu madiki anoumbwa muchikamu chepamusoro chedumbu nemuura hukuru (colon polyps ).

Matambudziko epfungwa nekukura

• Kuva nemusoro wakakura kupfuura wakajairika (macrocephaly ).
• Aine musoro murefu zvakanyanya ( dolichocephaly ).
• Kunonoka kukura kwemwana .
• Dambudziko reAutism spectrum (Autism spectrum disorder ).

Chii chinokonzera PHTS?

Sezvatakambokurukura, chikonzero chikuru chePHTS kuchinja, kana kuti kuchinja, mujini re'PTEN'. Iri jini re'PTEN' ndiro rinoburitsa 'enzyme' inozivisa masero kuti amire kupatsanurana uye inoratidzawo kana sero rinofanira kufa ('apoptosis'). Izvi zvinobva zvaita kuti pave nemasero matsva ane hutano.

MuPHTS, jini rePTEN harishande nemazvo. Nekuda kweizvozvo, masero anogona kuramba achipatsanurana nekukura zvisingadzoreki. Pakupedzisira, masero aya anogona kukura pamwe chete kuti aumbe mamota. Kunyange zvazvo mamota aya kazhinji asina njodzi, dzimwe nguva anogona kuva kenza.

PHTS chirwere chemajini chinopfuudzwa kubva kuzvizvarwa kusvika kuzvizvarwa.Izvi zvinoreva kuti vana vanogona kugara nhaka iyi gene yakachinja kubva kuvabereki vavo.

PHTS inobva sei mudzinza?

Unogara nhaka PHTS nenzira inonzi "autosomal dominant" . Unoziva here kuti izvozvo zvinorevei? Tose tine makopi maviri ejini re "PTEN" mumiviri yedu. Rimwe kubva kuna amai vedu, rimwe kubva kuna baba vedu. Kana uri PHTS, unogara nhaka kopi imwe chete yejini re "PTEN" rine hutano uye kopi imwe chete ine "mutated". Kunyangwe uine kopi imwe chete ine hutano, jini re "PTEN" rine shanduko rinokonzera matambudziko ane chekuita nePHTS. Izvi zvinoreva kuti kunyangwe mumwe chete wevabereki ane jini rakachinja, pane mukana we50% wekuti mwana wavo acharigara nhaka.

Dzimwe nguva, haugari nhaka yejini rePTEN rakachinjwa kubva kuvabereki vako. Pane kudaro, kuchinja uku kunogona kuitika usati waberekwa, kungave uri mwana ari mudumbu kana mwana ari mudumbu .

Hazvina mhosva kuti unowana sei shanduko iyi, kana uinayo, mwana wako ane mukana we50% wekugara nhaka kopi yejini yakachinja.

Ndeipi njodzi yekenza inobatanidzwa nePHTS?

Kana uine chirwere cheCowden syndrome, une mukana wakakura wekuwana mamwe marudzi ekenza kupfuura vanhuwo zvavo. Saka, unofanira kuongororwa kenza muhupenyu hwako hwese kuti ugadzirise njodzi iyi. Kunyangwe bvunzo idzi dzisingakwanise kudzivirira kenza kuti isatanga, kana dzikaonekwa nekukurumidza, kurapwa kunogona kutanga nekukurumidza uye mhedzisiro yacho inogona kuva nani.

Mhando dzegomarara raungave uri panjodzi huru naro ndedzinotevera:

• Kenza yemazamu
• Kenza yethyroid
• Kenza yeitsvo
• Kenza yechibereko
• Kenza yemudumbu
• Melanoma, kenza yeganda

Kutsvagurudza kwakawanda kuchiri kuitwa pamusoro penjodzi yekenza ine chekuita neBRRS.

Chirwere chePHTS chinoonekwa sei?

Chiremba wako ndiye achaona kana uine PHTS kana vakawana shanduko mujini rePTEN. Uchafanirwa kuongororwa majini kuti uone kana uine shanduko iyi. Izvi zvinowanzoitwa kuburikidza nekuongororwa ropa .

Kune gwara rekuongorora majini ekuongorora chirwere cheCowden (semuenzaniso, kubva kuNational Comprehensive Cancer Network neCleveland Clinic). Gwara iri rinogadziriswa nguva nenguva zvichibva pane zvitsvakurudzo zvitsva. International Cowden Consortium yakagadzawo nzira dzekuongorora chirwere cheCowden. Chiremba wako ndiye achasarudza kana uchida bvunzo iyi zvichibva pazviratidzo zvako, nhoroondo yemhuri yegomarara, uye kana uine PTEN mutation.

Kunyangwe pasina gwara rekuongorora chirwere cheBRRS, chiremba wako anogona kukurudzira bvunzo dzakafanana nedzinoshandiswa kuongorora chirwere cheCowden.

Chinhu chinonyanya kukosha ndechekuti kana ukasimbiswa kuti une chirwere ichi, zvakakosha kuti vamwe vemumhuri yako vabatwewo bvunzo iyi.

Ko PHTS inogona kurapwa zvizere here?

Zvinosuwisa kuti pari zvino hapana mushonga wePHTS. Zvisinei, masayendisiti ari kuramba achitsvaga nzira dzekurapa dzinoshanda zvakanyanya pakurapa kenza dzine PTEN mutation.

PHTS inorapwa uye inorapwa sei?

Kana uine PHTS, unogona kunge uine timu yevanachiremba vari kutarisira hutano hwako. Vachakubatsira kubata zvese kubva pazviratidzo zvako kusvika pakukura kusingawanzoitiki kusvika pakunonoka kukura. Vachaongororawo njodzi yekenza yako uye kusarudza kuti unofanira kuongororwa kenza kangani.

Nzira dzekurapa

Kunyangwe pasina gwara rakananga rekurapa bundu, rekenza kana risiri rekenza, nekuchinja kwePTEN, kurapwa kunoenderana nezviratidzo zvako. Kurapa uku kunogona kusanganisira:

• Kuvhiyiwa: Kubviswa kwenyama isina kujairika. Chiremba anogona kutora sampuli yenyama kuti aongorore masero ekenza asati avhiyiwa ( biopsy ).
• Kurapa nechando: Kushandiswa kwemvura inotonhora zvakanyanya kuparadza nyama dzisina kujairika.
• Kubvisa ganda neLaser: Kushandiswa kwekupisa kwakanyanya kuparadza nyama dzisina kujairika.
• Mafuta ekushandisa paganda: Mafuta akagadzirirwa kuparadza bundu reganda.

Kuongororwa kwegomarara

Kana uine chirwere cheCowden syndrome, uchafanirwa kugara uchiongororwa hupenyu hwako hwese kuti uone kana paine matambudziko asina kenza uye asina kukonzera kenza. Izvi zvinoreva kuti kana paine matambudziko anogona kubatwa nekukurumidza sezvinobvira, panguva yakakodzera yekurapwa. Kunyangwe pasina gwara rekutarisa vanhu vane BRRS, chiremba wako anogona kukurudzira bvunzo dzakafanana nedzakaitwa paCowden syndrome.

Nzira idzi dzekuyedza dzinogona kusanganisira zvinotevera, izvo zvinowanzoitwa:

• Mammograms: Kuongororwa kunoshandisa X-rays shoma kutora mifananidzo yenyama yezamu.
• Kuongororwa kweMRI yezamu: Kuongororwa kunoshandisa magineti makuru nemasaisai eredhiyo kutora mifananidzo yenyama yezamu.
• Ultrasound: Kuongororwa kunoshandisa mafungu eruzha kutora mifananidzo yenyama yezamu.
• Colonoscopies: Kuongororwa kunoongorora mukati meura hukuru uchishandisa chubhu ine kamera (scope). Chubhu iyi inogona kushandiswawo kubvisa mapolyps. Izvi zvinogona kumisa kukura kwemasero asati ava kenza.
• Endoscopy (`Endoscopy`):Kuongororwa uko chubhu (scope) ine kamera inoiswa kuti ione gumbo, dumbu, uye chikamu chepamusoro cheura hudiki (duodenum).

Zvichienderana nemigumisiro yebvunzo, biopsy ingangodiwa kuti ione kana nyama isina kurongeka ine masero ekenza.

Ko PHTS inogona kudzivirirwa here?

Hapana nzira yekudzivirira PHTS. Zvisinei, kuongororwa kenza nguva dzose kunogona kubatsira kuona kenza nekukurumidza, panguva iyo inogona kurapwa zvakanyanya. Saka, zvakakosha kuti uongororwe izvi sezvakarairwa nachiremba wako.

Munhu ane PHTS angatarisira remangwana rerudzii?

Ramangwana rako rinoenderana nezvinhu zvakawanda, kusanganisira zviratidzo zvako uye hutano hwako hwese. Kana uine PHTS/Cowden syndrome, une mukana wakawanda wekuva nemamwe marudzi ekenza. Ndosaka kuongororwa kwekenza kuchikosha zvikuru. Kubata nekurapa kenza nekukurumidza ndiyo nzira yakanakisisa yekuvandudza mikana yako yekupora (prognosis).

Ndinofanira kuona chiremba rini?

Tevedzera mirairo yachiremba wako yekuti unofanira kuongororwa kenza kangani. Zvakakoshawo kuziva zviratidzo zvekenza. Bvunza chiremba wako kuti zviratidzo zvipi zvaunofanira kuziva.

Kuziva kuti iwe kana mwana wako ane chirwere chakadai sePHTS kunogona kuva chiitiko chakaoma zvikuru. Chirwere ichi chinoda kutariswa nguva dzose. Chinogona kushungurudza vanhu vazhinji. Zvisinei, kuongororwa kwakanyatsonaka kunogona kubatsira zvikuru mukuchengetedza kana kuwedzera hupenyu hwako kana ukaita kenza. Kana ukaonekwa uine PHTS, iva nechokwadi chekudzidza nezvenjodzi dzehutano hwako, kuti timu yako yezvekurapa ichatarisa sei hutano hwako, uye kuti chirongwa chako chekurapa chingavandudza sei hutano hwako hwenguva refu.

Gene rePTEN rinokonzera sei cancer?

Sezvatakambokurukura, kuchinja kwejini rePTEN kunogona kukonzera kuti masero akure zvisingadzoreki uye agadzire mabundu. Kunyangwe PHTS ichinyanya kusanganiswa nemabundu asiri ekenza anonzi hematomas, kukura uku kwemasero kusingadzoreki kunogonawo kukonzera mabundu ekenza. Mhando dzese dzemabundu dzinokonzerwa nemasero anokamuka nekukurumidza. Kunyange zvazvo mabundu asiri ekenza ari munzvimbo imwe chete, mabundu ekenza anogona kupararira mumuviri wese (metastasize) . Kana akadaro, masero ekenza anokuvadza tishu dzine hutano.

Pfungwa pfupi dzekurangarira

Zvakanaka, ngatitaurei zvimwe zvezvinhu zvakakosha zvekurangarira nezvePHTS yatakataura nezvayo:

• PHTS chirwere chinokonzerwa nekuchinja kwemajini kunonzi `PTEN`. Jini iri rinobatsira kudzora kukura kwemasero edu.
• Dambudziko iri rinogona kukonzera mapundu asina kenza (hematomas) nezvimwe zvinomera kuti zviumbe munzvimbo dzakasiyana dzemuviri.
• Vanhu vane PHTS, kunyanya avo vane Cowden syndrome, vari panjodzi yakakura yekuva negomarara remhando dzakasiyana (dzakadai segomarara rezamu, thyroid, itsvo, uterine, uye colon).
• Ichi chirwere chinogona kugarwa nhaka . Kana uine chirwere ichi, vana vako vane mukana we50% wekuchigara nhaka.
• PHTS haigone kurapwa zvizere parizvino. Zvisinei, zviratidzo zvinogona kudzorwa uye njodzi yekenza inogona kugadziriswa.
• Kuongororwa kenza nguva dzose kunogona kuponesa hupenyu, sezvo kenza iri nyore kurapwa uye kurapwa kana ikaonekwa nekukurumidza.
• Kana iwe kana mumwe munhu wemumhuri mako aine zviratidzo izvi, iva nechokwadi chekutsvaga mazano echiremba. Kuongororwa kwemajini uye kuongororwa kwakakodzera kwechiremba kwakakosha zvikuru.

Usavhunduke, asi chinonyanya kukosha ndechekuziviswa. Kana uine mimwe mibvunzo, usazeza kutaura nachiremba wako.

` PTEN, Hematoma, Bundu, Chirwere, Kuchinja kwemajini, Kenza, Cowden Syndrome, BRRS