Kodi mukukumana ndi zotupa zachilendo m'thupi lanu? Izi zitha kukhala PTEN Hamartoma Tumor Syndrome (PHTS)!

Kodi munayamba mwaonapo ziphuphu zachilendo kapena ziphuphu pathupi lanu kapena la munthu wina m'banja mwanu? Zina mwa izo zingawoneke ngati palibe chodetsa nkhawa nacho, koma nthawi zina zimatha kukhala zizindikiro za matenda. Lero, tikambirana za chimodzi mwa matenda omwe muyenera kuda nkhawa nawo.

Kodi PTEN Hematoma Tumor Syndrome (PHTS) ndi chiyani?

Mwachidule, PTEN Hamartoma Tumor Syndrome (PHTS) ndi gulu la matenda omwe amayamba chifukwa cha kusintha kwa majini otchedwa `PTEN` m'thupi lathu. Tsopano mwina mukufunsa kuti jini ya `PTEN` ndi chiyani. Tangoganizani kuti pali munthu m'thupi lathu amene amalamulira kukula kwa maselo, amene amachita ngati mlonda. Umu ndi momwe jini ya `PTEN` ilili. Ili ndi jini yoletsa chotupa . Chomwe chimachita ndi kupanga `enzyme` yomwe imaletsa maselo athu kukula mosalamulirika ndikupanga zotupa.

Kotero, pakakhala kusintha kwa majini, kapena chilema, mu jini iyi ya `PTEN`, kuwongolera kukula kwa maselo sikugwira ntchito bwino. Kenako maselo amayamba kukula mosalamulirika, ndipo zinthu zotchedwa `hamartomas` zimatha kupangidwa. Hamartoma ndi kukula kosakhala khansa (`koipa`) , kosakhala koopsa, kofanana ndi chotupa. Ngati muli ndi PHTS, muli pachiwopsezo chachikulu chotenga mitundu iyi ya ma hematomas ndi zotupa zina zosakhala khansa. Komanso, nthawi zina pamakhala chiopsezo cha khansa (`malignant`) , zotupa, zomwe zikutanthauza khansa.

Ndi mitundu iti ya matenda yomwe imagwera mu gulu la PHTS?

Gulu lalikulu la PHTS ili limaphatikizapo matenda awiri akuluakulu: Cowden syndrome ndi Bannayan-Riley-Ruvalcaba syndrome (BRRS) . Madokotala ankaona kuti matenda awiriwa ndi osiyana, koma tsopano onsewa akugwirizana ndi kusintha kwa majini a PTEN, kotero amagawidwa m'magulu ang'onoang'ono, PHTS.

Mavuto azaumoyo omwe munthu amene ali ndi PHTS amakumana nawo, kaya ndi Cowden syndrome kapena BRRS, ndi ofanana kwambiri. Nthawi zina, munthu amene ali ndi PHTS angakumane ndi zizindikiro zokhudzana ndi matenda onsewa pa moyo wake wonse.

• Matenda a Cowden: Izi zimachitika kwambiri mwa akuluakulu. Anthuwa amatha kukhala ndi zotupa zosavulaza komanso zoyipa. Zotupazi zimapezeka kwambiri m'mawere, chiberekero, chithokomiro, m'mimba, pakhungu, lilime, ndi m'kamwa.
• Matenda a Bannayan-Riley-Ruvalcaba (BRRS): Izi zimakhudza kwambiri ana aang'ono. Ana omwe ali ndi BRRS amatha kukhala ndi zotupa pakhungu ndi zizindikiro zoberekera. Angathenso kuchedwa kukula .

Kodi zizindikiro za PHTS ndi ziti?

PHTS ingayambitse ma hematoma m'maselo osiyanasiyana a thupi lanu. Zizindikiro zenizeni zomwe mumakumana nazo zimasiyana malinga ndi mtundu wa PHTS womwe muli nawo. Kawirikawiri, ngati muli ndi PHTS, mutha kukumana ndi chimodzi kapena zingapo mwa zizindikiro izi:

Madontho a pakhungu ndi zithupsa

• Tizilombo tating'onoting'ono tomwe timaoneka ngati tikulendewera pakhungu (ma tag a khungu kapena ma acrochordons) .
• Madontho akuda, athyathyathya pa zikhatho ndi mapazi (palmoplantar keratoses ).
• Matumbo ang'onoang'ono komanso osalala pankhope (trichilemmomas ).
• Matumbo otukula, okhala ndi khungu lofiirira ( papillomas ).
• Matumbo amafuta ( lipomas ) omwe amakula pansi pa khungu.
• Matumbo olimba omwe amaoneka ngati chingamu mkati mwa mkamwa (mkamwa wa fibromas ).
• Mitsempha yamagazi imawonekera pamwamba pa khungu ( hemangiomas ndi zizindikiro zobadwa nazo ).
• Madontho pa maliseche a mwamuna ('madontho pa mbolo yanu ').

Mitundu ya zotupa zomwe si khansa (`Benign`)

• Matumbo a chithokomiro ( matumbo mu chithokomiro).
• Kukula kwa chithokomiro cha chithokomiro ndi kupangika kwa timibulu tambiri (multinodular goiters ).
• Zotupa m'chiberekero ( uterine fibroids ).
• Fibroadenomas ya m'mawere .
• Kusintha kwa minofu yofewa m'mabere ( mabere a fibrocystic ).
• Zomera zazing'ono zomwe zimapangidwa kumtunda kwa matumbo ndi m'matumbo akulu (colon polyps ).

Mavuto a ubongo ndi chitukuko

• Kukhala ndi mutu waukulu kuposa wamba (macrocephaly ).
• Kukhala ndi mutu wautali kwambiri ( dolichocephaly ).
• Kuchedwa kwa chitukuko .
• Matenda a Autism spectrum (matenda a Autism spectrum ).

Kodi n’chiyani chimayambitsa PHTS?

Monga tafotokozera kale, chifukwa chachikulu cha PHTS ndi kusintha kwa majini a `PTEN`. Jini ya `PTEN` iyi ndi yomwe imatulutsa `enzyme` yomwe imauza maselo kuti asiye kugawikana komanso imadziwitsa nthawi yomwe selo liyenera kufa (`apoptosis`). Izi zimapangitsa kuti maselo atsopano komanso athanzi akhale ndi malo.

Mu PHTS, jini ya PTEN sigwira ntchito bwino. Zotsatira zake, maselo amatha kupitiriza kugawikana ndikukula mosalamulirika. Pamapeto pake, maselowa amatha kukula pamodzi ndikupanga zotupa. Ngakhale kuti zotupazi nthawi zambiri zimakhala zopanda vuto, nthawi zina zimatha kukhala khansa.

PHTS ndi matenda a majini omwe amapatsirana m'mibadwomibadwo.Izi zikutanthauza kuti ana akhoza kulandira jini yosinthika iyi kuchokera kwa makolo awo.

Kodi PHTS imachokera bwanji ku mzera wa makolo?

Mumalandira PHTS mu njira ya ``autosomal dominant``` . Kodi mukudziwa tanthauzo lake? Tonsefe tili ndi makope awiri a jini ya ``PTEN`` m'thupi mwathu. Limodzi kuchokera kwa amayi athu, limodzi kuchokera kwa abambo athu. Pankhani ya PHTS, mumalandira kopi imodzi ya jini ya ``PTEN`` yathanzi ndi kopi imodzi yomwe ndi ``mutated``. Ngakhale mutakhala ndi kopi imodzi yathanzi, jini ya ``PTEN`` yosinthika imayambitsa mavuto okhudzana ndi PHTS. Izi zikutanthauza kuti ngakhale kholo limodzi lokha ndi lomwe lili ndi jini yosinthika, pali mwayi wa 50% kuti mwana wawo adzalandira.

Nthawi zina, simulandira jini ya PTEN yosinthidwa kuchokera kwa makolo anu. M'malo mwake, kusinthaku kumatha kuchitika musanabadwe, kaya muli mluza kapena mwana wosabadwa .

Kaya mutapeza bwanji kusintha kumeneku, ngati muli nako, mwana wanu ali ndi mwayi wa 50% wolandira kopi ya majini yosinthikayo.

Kodi chiopsezo cha khansa chokhudzana ndi PHTS ndi chiyani?

Ngati muli ndi matenda a Cowden, muli ndi chiopsezo chachikulu chotenga mitundu ina ya khansa kuposa anthu onse. Chifukwa chake, muyenera kuyezetsa khansa moyo wanu wonse kuti muchepetse chiopsezochi. Ngakhale kuti mayesowa sangalepheretse khansa kukula, ngati atapezeka msanga, chithandizo chingayambitsidwe msanga ndipo zotsatira zake zingakhale zabwino.

Mitundu ya khansa yomwe mungakhale nayo pachiwopsezo chachikulu ndi iyi:

• Khansa ya m'mawere
• Khansa ya chithokomiro
• Khansa ya impso
• Khansa ya m'chiberekero
• Khansa ya m'matumbo
• Melanoma, khansa ya pakhungu

Kafukufuku wina akupitilizabe pankhani ya chiopsezo cha khansa chokhudzana ndi BRRS.

Kodi matenda a PHTS amapezedwa bwanji?

Dokotala wanu adzadziwa ngati muli ndi PHTS ngati apeza kusintha kwa majini a PTEN. Muyenera kuyesedwa majini kuti muwone ngati muli ndi kusinthaku. Izi nthawi zambiri zimachitika kudzera mu mayeso a magazi .

Pali malangizo oyesera majini kuti mupeze matenda a Cowden (mwachitsanzo, ochokera ku National Comprehensive Cancer Network ndi Cleveland Clinic). Malangizowa amasinthidwa nthawi zonse kutengera kafukufuku watsopano. International Cowden Consortium yakhazikitsanso njira zodziwira matenda a Cowden. Dokotala wanu adzasankha ngati mukufuna mayesowa kutengera zizindikiro zanu, mbiri ya banja lanu ya zotupa, komanso ngati muli ndi kusintha kwa PTEN.

Ngakhale kuti palibe malangizo okhazikika odziwira matenda a BRRS, dokotala wanu angakulimbikitseni mayeso omwewo monga omwe amagwiritsidwa ntchito pozindikira matenda a Cowden.

Chofunika kwambiri ndichakuti ngati mwatsimikizika kuti muli ndi kusinthaku, ndikofunikira kwambiri kuti abale anu ena ayesedwenso.

Kodi PHTS ingachiritsidwe kwathunthu?

Mwatsoka, pakadali pano palibe mankhwala a PHTS. Komabe, asayansi akupitiliza kufufuza njira zomwe zimagwirira ntchito bwino khansa yokhala ndi kusintha kwa PTEN.

Kodi PHTS imachiritsidwa ndi kuthandizidwa bwanji?

Ngati muli ndi PHTS, mungakhale ndi gulu la madokotala omwe akusamalira thanzi lanu. Adzakuthandizani kuthana ndi chilichonse kuyambira zizindikiro zanu mpaka kukula kosazolowereka mpaka kuchedwa kukula. Adzawunikanso chiopsezo chanu cha khansa ndikusankha nthawi yomwe muyenera kuyezetsa khansa.

Njira zochizira

Ngakhale palibe malangizo enieni ochizira zotupa, khansa kapena zosakhala khansa, ndi kusintha kwa PTEN, chithandizo chidzadalira zizindikiro zanu. Mankhwalawa angaphatikizepo:

• Opaleshoni: Kuchotsa minofu yosazolowereka. Dokotala asanayambe opaleshoni, angatenge chitsanzo cha minofu kuti akaone ngati pali maselo a khansa ( biopsy ).
• Cryotherapy: Kugwiritsa ntchito kuzizira kwambiri kuti kuwononge minofu yolakwika.
• Kuchotsa khungu pogwiritsa ntchito laser: Kugwiritsa ntchito kutentha kwambiri kuti kuwononge minofu yosazolowereka.
• Mafuta odzola opangidwa ndi mankhwala: Mafuta apadera opangidwa kuti awononge zotupa za pakhungu.

Mayeso a khansa

Ngati muli ndi matenda a Cowden, muyenera kuyang'aniridwa nthawi zonse, moyo wanu wonse kuti muwone ngati pali matenda ena omwe si khansa komanso omwe sali khansa. Izi zikutanthauza kuti ngati pali mavuto ena, amatha kupezedwa msanga momwe angathere, panthawi yoyenera kuwachiza. Ngakhale kuti palibe malangizo okhazikika owunikira anthu omwe ali ndi BRRS, dokotala wanu angakulangizeni mayeso ofanana ndi omwe adachitidwa pa matenda a Cowden.

Njira zoyesera izi zitha kuphatikizapo izi, zomwe zimachitika nthawi zambiri:

• Mammogram: Kuyesa komwe kumagwiritsa ntchito X-ray yochepa kuti ijambule zithunzi za minofu ya m'mawere.
• Ma MRI a m'mawere: Kuyeza komwe kumagwiritsa ntchito maginito akuluakulu ndi mafunde a wailesi kujambula zithunzi za minofu ya m'mawere.
• Ultrasound: Kuyesa komwe kumagwiritsa ntchito mafunde a phokoso kujambula zithunzi za minofu ya m'mawere.
• Colonoscopies: Kuyesa komwe kumayang'ana mkati mwa matumbo akulu pogwiritsa ntchito chubu chopangidwa ndi kamera (scope). Chubu ichi chingagwiritsidwenso ntchito kuchotsa ma polyps. Izi zitha kuyimitsa kukula asanakhale khansa.
• Endoscopy (`Endoscopy`):Kuyesa komwe chubu (scope) chokhala ndi kamera chimayikidwa kuti chiwone m'mero, m'mimba, ndi kumtunda kwa matumbo ang'onoang'ono (duodenum).

Kutengera ndi zotsatira za mayeso, biopsy ingafunike kuti itsimikizire ngati minofu yolakwika ili ndi maselo a khansa.

Kodi PHTS ingapewedwe?

Palibe njira yopewera PHTS. Komabe, kuyezetsa khansa nthawi zonse kungathandize kuzindikira khansa msanga, nthawi yomwe imatha kuchiritsidwa. Chifukwa chake, ndikofunikira kuyezetsa khansa motsatira malangizo a dokotala wanu.

Kodi munthu amene ali ndi PHTS angayembekezere tsogolo lotani?

Tsogolo lanu limadalira zinthu zambiri, kuphatikizapo zizindikiro zanu ndi thanzi lanu lonse. Ngati muli ndi PHTS/Cowden syndrome, muli ndi chiopsezo chowonjezeka cha matenda enaake a khansa. Ichi ndichifukwa chake kuyezetsa khansa ndikofunikira kwambiri. Kupeza ndi kuchiza khansa msanga ndiyo njira yabwino kwambiri yowonjezera mwayi wanu wochira (prognosis).

Kodi ndiyenera kupita kwa dokotala liti?

Tsatirani malangizo a dokotala wanu okhudza kuchuluka kwa nthawi yomwe muyenera kuyezetsa khansa. Ndikofunikanso kudziwa zizindikiro zochenjeza za khansa. Funsani dokotala wanu zizindikiro zomwe muyenera kudziwa.

Kupeza kuti inu kapena mwana wanu ali ndi vuto ngati PHTS kungakhale kovuta kwambiri. Ndi vuto lomwe limafuna chisamaliro nthawi zonse. Lingakhale lovutitsa anthu ambiri. Komabe, kuyezetsa mosamala kungathandize kwambiri kupulumutsa kapena kutalikitsa moyo wanu ngati mutadwala khansa. Ngati mwapezeka ndi PHTS, onetsetsani kuti mwaphunzira za zoopsa zaumoyo wanu, momwe gulu lanu lachipatala lidzayang'anira thanzi lanu, komanso momwe dongosolo lanu la chithandizo lingathandizire thanzi lanu la nthawi yayitali.

Kodi jini ya PTEN imayambitsa bwanji khansa?

Monga tafotokozera kale, kusintha kwa majini a PTEN kungayambitse maselo kukula mosalamulirika ndikupanga zotupa. Ngakhale kuti PHTS nthawi zambiri imagwirizanitsidwa ndi zotupa zopanda khansa zotchedwa hematomas, kukula kosalamulirika kwa maselo kumeneku kungayambitsenso zotupa za khansa. Mitundu yonse iwiri ya zotupa imayamba chifukwa cha kugawikana kwa maselo mofulumira. Ngakhale zotupa zopanda khansa zimapezeka m'malo ena, zotupa za khansa zimatha kufalikira m'thupi lonse (metastasize) . Zikatero, maselo a khansa amawononga minofu yathanzi.

Mfundo zazifupi zoti muzikumbukire

Chabwino, tiyeni tikambirane zinthu zofunika kwambiri zomwe tiyenera kukumbukira zokhudza PHTS zomwe tinakambirana:

• PHTS ndi vuto lomwe limayamba chifukwa cha kusintha kwa majini otchedwa `PTEN`. Jini iyi imathandiza kulamulira kukula kwa maselo athu.
• Vutoli lingayambitse ziphuphu zomwe sizili ndi khansa (hematomas) ndi zotupa zina m'thupi.
• Anthu omwe ali ndi PHTS, makamaka omwe ali ndi matenda a Cowden, ali pachiwopsezo chachikulu chotenga mitundu ina ya khansa (monga khansa ya m'mawere, ya chithokomiro, ya impso, ya chiberekero, ndi ya m'matumbo).
• Uwu ndi vuto lomwe lingatengedwe ngati cholowa . Ngati muli nalo, ana anu ali ndi mwayi wa 50% wolandira.
• Pakadali pano PHTS singathe kuchiritsidwa kwathunthu. Komabe, zizindikiro zimatha kuchepetsedwa ndipo chiopsezo cha khansa chikhoza kuthetsedwa.
• Kuyezetsa khansa nthawi zonse kungapulumutse moyo, chifukwa khansa imatha kuchiritsidwa ndikuchiritsidwa ngati yapezeka msanga.
• Ngati inu kapena wina m'banja mwanu ali ndi zizindikiro izi, onetsetsani kuti mwapeza upangiri kwa dokotala. Kuyezetsa majini ndi kuyang'aniridwa bwino kwa dokotala ndikofunikira kwambiri.

Musachite mantha, koma chofunika kwambiri ndi kudziwa zambiri. Ngati muli ndi mafunso ena, musazengereze kulankhula ndi dokotala wanu.

` PTEN, Hematoma, Chotupa, Matenda, Kusintha kwa Majini, Khansa, Cowden Syndrome, BRRS