![\"\"](\"https:\/\/prizrenpost.com\/al\/wp-content\/uploads\/2022\/03\/Egzon-Avdullahi.jpg\")
<\/p>\n<\/p>\n
Dr. Egzon Abdullahi<\/strong>
\nMjek i Gjenetik\u00ebs Njer\u00ebzore<\/em>
\nTel: +90 507 908 11 03
\nE-mail: contact@egzonabdullahi.com\n<\/p><\/blockquote>\nN\u00eb k\u00ebt\u00eb shkrim dua t\u00eb flas rreth gjenomik\u00ebs q\u00eb po p\u00ebrdoret p\u00ebr t\u00eb revolucionarizuar m\u00ebnyr\u00ebn se si njer\u00ebzit po i afrohen kancerit. Jo vet\u00ebm n\u00eb aspektin e trajtimit, por n\u00eb kuptimin e mekanizmave themelor\u00eb t\u00eb m\u00ebnyr\u00ebs se si ne, si mjek\u00eb, e klasifikojm\u00eb kancerin. Le t\u00eb fillojm\u00eb me nj\u00eb rast. Nj\u00eb grua n\u00eb t\u00eb 60-tat me nj\u00eb ndryshim n\u00ebkoh\u00ebt e fundit n\u00eb form\u00eb t\u00eb nj\u00eb nishani n\u00eb k\u00ebmb\u00ebn e saj. Ajo \u00ebsht\u00eb vizituese e r\u00ebndomt\u00eb e salloneve p\u00ebr rrezitje, nuk p\u00ebrdor krem kund\u00ebr diellit kur del jasht\u00eb. B\u00ebhet nj\u00eb biopsi ekscizionale dhe zbulohet se ajo ka melanom\u00eb malinje. I n\u00ebnshtrohet nj\u00eb vler\u00ebsimi t\u00eb m\u00ebtejsh\u00ebm dhe verifikohet se ka metastaza t\u00eb shumta n\u00eb m\u00ebl\u00e7i. Kjo \u00ebsht\u00eb nj\u00eb situat\u00eb v\u00ebrtet e tmerrshme n\u00eb t\u00eb cil\u00ebn prognoza e pacientit \u00ebsht\u00eb mjaft e zymt\u00eb. Kuptimi i ri i mekanizmave n\u00eb k\u00ebt\u00eb s\u00ebmundje dhe s\u00ebmundje t\u00eb tjera po e ndryshon disi at\u00eb prognoz\u00eb dhe po jep v\u00ebrtet ide t\u00eb reja se si funksionon n\u00eb t\u00eb v\u00ebrtet\u00eb kanceri. Pra, para se t\u00eb diskutoj p\u00ebr menaxhimin e k\u00ebtij pacienti, do t\u00eb diskutoj mekanizmat e variacionit gjenetik. Ky \u00ebsht\u00eb nj\u00eb ndryshim q\u00eb ilustron formimin e kromozomit t\u00eb Filadelfias dhe ilustron faktin se kromozomi i Filadelfias, ka shenja dalluese patologjike t\u00eb leu\u00e7emis\u00eb kronike mielogjene. P\u00ebrfaq\u00ebson nj\u00eb ndryshim zhvendosjeje midis nj\u00eb segmenti t\u00eb kromozomit 9 dhe nj\u00eb segmenti t\u00eb kromozomit 22. Kjo rezulton n\u00eb nj\u00eb kromozom 9 disi m\u00eb t\u00eb gjat\u00eb dhe nj\u00eb kromozom 22 shum\u00eb m\u00eb t\u00eb shkurt\u00ebr. Ngjarja e bashkimit n\u00eb kromozomin 22 rezulton n\u00eb formimin e nj\u00eb gjeni t\u00eb ri. Ky \u00ebsht\u00eb nj\u00eb shkrirje midis gjeneve ECR dhe ABL, q\u00eb gjeneron nj\u00eb kinaz\u00eb t\u00eb re q\u00eb nxit zhvillimin e leu\u00e7emis\u00eb kronike mielogjene. Zbulimi se kjo kinaz\u00eb \u00ebsht\u00eb e r\u00ebnd\u00ebsishme n\u00eb gjenerimin e k\u00ebtij kanceri t\u00eb ve\u00e7ant\u00eb \u00e7oi drejtp\u00ebrdrejt n\u00eb zhvillimin e ila\u00e7eve q\u00eb pengojn\u00eb k\u00ebt\u00eb aktivitet t\u00eb kinaz\u00ebs. I pari nga k\u00ebto barna \u00ebshte ila\u00e7i i quajtur Gleevac. Gleevac rezulton t\u00eb jet\u00eb shum\u00eb efektiv n\u00eb leu\u00e7emin\u00eb kronike mielogjene jo 100% efektive, por shum\u00eb, shum\u00eb efektive. Dhe n\u00eb m\u00ebnyr\u00eb interesante gjithashtu efektive n\u00eb disa forma t\u00eb pazakonta t\u00eb kancerit t\u00eb stomakut q\u00eb duket se nxiten nga i nj\u00ebjti mekaniz\u00ebm. Pra, kjo na jep dy sugjerime. Nj\u00eb sugjerim \u00ebsht\u00eb se n\u00ebse i kuptojm\u00eb mekanizmat nxit\u00ebs me t\u00eb cil\u00ebt aktivizohet kanceri, mund t\u00eb jemi n\u00eb gjendje t\u00eb zhvillojm\u00eb ila\u00e7e q\u00eb pengojn\u00eb ato mekanizma nxit\u00ebs. Dhe sugjerimi i dyt\u00eb \u00ebsht\u00eb se kanceret q\u00eb ne i quajm\u00eb me emra t\u00eb ndrysh\u00ebm, pra kanceret q\u00eb duken ndryshe n\u00ebn nj\u00eb mikroskop mund t\u00eb ken\u00eb n\u00eb t\u00eb v\u00ebrtet\u00eb mekanizma molekular\u00eb shum\u00eb t\u00eb ngjash\u00ebm dhe prandaj ndoshta t\u00eb trajtohen nga t\u00eb nj\u00ebjtat lloje t\u00eb barnave. Pra, historia mahnit\u00ebse rreth k\u00ebsaj vjen n\u00eb s\u00ebmundjen melanoma malinje q\u00eb ka ky pacient q\u00eb ju prezantova. Pra, m\u00ebnyra tradicionale e klasifikimit t\u00eb melanom\u00ebs malinje tregohet k\u00ebtu. Dhe ka t\u00eb b\u00ebj\u00eb me vendin ku shfaqet melanoma dhe n\u00ebse ka d\u00ebshmi t\u00eb ekspozimit b\u00eb rreze uv mbase d\u00ebmtimi i diellit n\u00eb l\u00ebkur\u00eb luan rol t\u00eb r\u00ebnd\u00ebsish\u00ebm. Pra, a \u00ebsht\u00eb shfaqur n\u00eb l\u00ebkur\u00eb me d\u00ebmtim nga dielli? Apo pa d\u00ebmtime nga dielli, a \u00ebsht\u00eb shfaqur n\u00eb sip\u00ebrfaqet mukozale n\u00eb sy, apo n\u00eb sip\u00ebrfaqet akrale, duart dhe k\u00ebmb\u00ebt? Pra, kjo \u00ebsht\u00eb m\u00ebnyra tradicionale e klasifikimit t\u00eb melanom\u00ebs. Dhe bazuar n\u00eb klasifikimin, ju do t\u00eb zgjidhni terapi t\u00eb ve\u00e7anta medikamentoze, shumica e t\u00eb cilave n\u00eb situat\u00ebn metastatike do t\u00eb ishin relativisht joefektive. Aft\u00ebsia p\u00ebr t\u00eb renditur jo gjenomin e pacientit, por gjenomin e qelizave t\u00eb kancerit, i cili \u00ebsht\u00eb i ndrysh\u00ebm nga gjenomi i pacientit, ka \u00e7uar n\u00eb njohjen se melanomat, s\u00eb bashku me shum\u00eb kancere t\u00eb tjera, kan\u00eb shum\u00eb, shum\u00eb mutacione dhe, n\u00eb fakt, disa prej tyre jan\u00eb mutacione udh\u00ebheq\u00ebse.<\/p>\n
Si t\u00eb dalloni mutacionet nxit\u00ebse \u00ebsht\u00eb nj\u00eb pyetje interesante, por nj\u00eb nga gjenet q\u00eb m\u00eb s\u00eb shpeshti implikohet n\u00eb melanoma \u00ebsht\u00eb nj\u00eb gjen i quajtur BRAF. Mutacionet BRAF jan\u00eb nd\u00ebr m\u00eb t\u00eb zakonshmet. Dhe midis mutacioneve BRAF ka nj\u00eb n\u00eb ve\u00e7anti q\u00eb rezulton n\u00eb nj\u00eb z\u00ebvend\u00ebsim n\u00eb nj\u00eb pozicion t\u00eb vet\u00ebm aminoacidesh, t\u00eb quajtur V600E q\u00eb p\u00ebrfaq\u00ebson diku rreth 30 deri n\u00eb 40% t\u00eb t\u00eb gjitha melanomave. Tani, rezulton se mutanti BRAF \u00ebsht\u00eb gjithashtu nj\u00eb kinaz\u00eb. Dhe nxit aktivizimin dhe zhvillimin e melanom\u00ebs. Shkenc\u00ebtar\u00ebt zhvilluan frenues t\u00eb BRAF V600E. Pra, kjo rr\u00ebshqitje tregon se kur e n\u00ebnklasifikoni melanom\u00ebn, jo nga pamja ose m\u00ebnyra se si shfaqet, por cilat jan\u00eb mutacionet, ju mund t\u00eb identifikoni mutacionet BRAF n\u00eb shum\u00eb melanoma, ve\u00e7an\u00ebrisht ato q\u00eb lindin n\u00eb l\u00ebkur\u00eb t\u00eb d\u00ebmtuar nga dielli. Por ju mund t\u00eb shihni q\u00eb ju keni nj\u00eb aluzion tani q\u00eb melanoma mund t\u00eb klasifikohet m\u00eb mir\u00eb nga mutacioni drejtues sesa nga ku u shfaq ose si duket te dermatologu. Pra, k\u00ebtu \u00ebsht\u00eb nj\u00eb shembull i nj\u00eb pacienti me melanoma malinje metastatike, shum\u00eb, shum\u00eb t\u00eb avancuar. Secili prej nyjeve \u00ebsht\u00eb n\u00eb t\u00eb v\u00ebrtet\u00eb nj\u00eb lezion metastatik, dhe ky pacient \u00ebsht\u00eb n\u00eb der\u00ebn e vdekjes.<\/p>\n
Trajtimi p\u00ebr 15 jav\u00eb me nj\u00eb frenues BRAF V600E, vemurafenib, rezulton n\u00eb pastrimin pothuajse t\u00eb plot\u00eb t\u00eb melanom\u00ebs. Kjo \u00ebsht\u00eb nj\u00eb p\u00ebrgjigje tep\u00ebr dramatike, dhe v\u00ebrtet ju tregon di\u00e7ka, jo vet\u00ebm p\u00ebr biologjin\u00eb, por shpres\u00ebn q\u00eb kjo lloj qasjeje mund t\u00eb jap\u00eb. Nj\u00eb nga gj\u00ebrat e tjera q\u00eb \u00ebsht\u00eb interesante p\u00ebr k\u00ebt\u00eb skenar t\u00eb ve\u00e7ant\u00eb \u00ebsht\u00eb se ka kancere t\u00eb tjera n\u00eb t\u00eb cilat BRAF V600E gjithashtu duket se luan nj\u00eb rol t\u00eb r\u00ebnd\u00ebsish\u00ebm. Nj\u00ebra prej tyre \u00ebsht\u00eb nj\u00eb form\u00eb shum\u00eb e pazakont\u00eb e leu\u00e7emis\u00eb e quajtur leu\u00e7emi e qelizave me flok\u00eb. Leu\u00e7emia e qelizave me flok\u00eb quhet k\u00ebshtu sepse kur njer\u00ebzit e shikojn\u00eb at\u00eb n\u00ebn mikroskop, qelizat leukemike duken sikur kan\u00eb qime t\u00eb vogla. Nuk \u00ebsht\u00eb shum\u00eb informuese p\u00ebr at\u00eb se cili \u00ebsht\u00eb trajtimi i duhur, por kur qelizat e leukemis\u00eb me qeliza me flok\u00eb jan\u00eb sekuencuar 100% e tyre kan\u00eb BRAF V600E. Mund t\u00eb tregojm\u00eb rrjedh\u00ebn klinike t\u00eb nj\u00eb pacienti me leu\u00e7emi t\u00eb qelizave me flok\u00eb BRAF V600E t\u00eb trajtuar me terapi konvencionale, p\u00ebrfshir\u00eb nj\u00eb ila\u00e7 t\u00eb quajtur Cladribine, dhe num\u00ebrimet e gjakut tregojn\u00eb se ato jan\u00eb shum\u00eb t\u00eb ul\u00ebta, dhe barnat nuk jan\u00eb duke pasur efekt. Pacienti ka s\u00ebmundje progresive. Dhe nj\u00eb shembull tjet\u00ebr i nj\u00eb pacienti me BRAF V600E q\u00eb ndodh t\u00eb jet\u00eb n\u00eb nj\u00eb kancer t\u00eb tiroides q\u00eb tani \u00ebsht\u00eb metastazuar gjer\u00ebsisht dhe \u00ebsht\u00eb p\u00ebrhapur n\u00eb mushk\u00ebri, n\u00eb k\u00ebt\u00eb skanim CT pasi trajtimi \u00ebsht\u00eb pastruar pothuajse plot\u00ebsisht. Pra, ka shpres\u00eb q\u00eb ne jo vet\u00ebm q\u00eb mund t\u2019i p\u00ebrdorim k\u00ebto barna n\u00eb n\u00ebntipe t\u00eb ve\u00e7anta t\u00eb pacient\u00ebve q\u00eb kan\u00eb rast t\u00eb ken\u00eb k\u00ebto lloj kinazash mutante. Por gjithashtu ne mund t\u00eb riklasifikojm\u00eb kancerin p\u00ebr t\u00eb th\u00ebn\u00eb jo se \u00ebsht\u00eb tiroide ose qeliz\u00eb me flok\u00eb ose melanoma, por \u00ebsht\u00eb BRAF V600E pozitive, ose kromozom pozitiv i Filadelfias, lloj klasifikimesh q\u00eb jan\u00eb shum\u00eb m\u00eb informuese p\u00ebr terapit\u00eb e synuara.<\/p>\n
Sidoqoft\u00eb, gjith\u00e7ka nuk \u00ebsht\u00eb e ditur se shumica e pacient\u00ebve q\u00eb marrin vemurafenib do t\u00eb ken\u00eb nj\u00eb p\u00ebrgjigje traumatike, dhe pastaj shpesh do t\u00eb shfaqen rishtazi si\u00e7 tek ky pacient disa jav\u00eb pas k\u00ebsaj p\u00ebrgjigje traumatike. Ishte gjithashtu interesante se pacient\u00ebt e trajtuar me vemurafenib nga melanoma shpesh zhvillojn\u00eb lloje t\u00eb tjera t\u00eb kancerit t\u00eb l\u00ebkur\u00ebs, sikurse kanceri i qelizave skuamoze. Dhe shum\u00eb nga ato kancere t\u00eb qelizave skuamoze kan\u00eb nj\u00eb mutacion t\u00eb ve\u00e7ant\u00eb n\u00eb gjenomin e tyre, jo n\u00eb gjenin BRAF, por n\u00eb fakt n\u00eb nj\u00eb gjen t\u00eb quajtur HRAS. Pra, n\u00eb nj\u00eb far\u00eb m\u00ebnyre, frenimi i BRAF V600E mund\u00ebson shfaqjen e rrug\u00ebve t\u00eb tjera t\u00eb kancerit. Pra, ky \u00ebsht\u00eb nj\u00eb problem me t\u00eb cilin po merren njer\u00ebzit. Dhe nocioni \u00ebsht\u00eb q\u00eb ju merreni me at\u00eb BRAF V600E dhe kanceri disi shp\u00ebton p\u00ebrmes zhvillimit t\u00eb rrug\u00ebve alternative t\u00eb aktivizimit.<\/p>\n
Nj\u00eb nga rrug\u00ebt q\u00eb tani kuptohet \u00ebsht\u00eb e ashtuquajtura rruga MEK, dhe ajo rrug\u00eb n\u00eb fakt mund t\u00eb frenohet me shtimin e barnave t\u00eb reja. Dhe ekziston kjo ide tani, q\u00eb ndalimi i BRAP V600E i kombinuar me frenuesit MEK mund t\u00eb siguroj\u00eb nj\u00eb form\u00eb m\u00eb t\u00eb q\u00ebndrueshme t\u00eb terapis\u00eb n\u00eb melanoma. Pra, ka ende shpres\u00eb se kanceri mund t\u00eb shnd\u00ebrrohet n\u00eb nj\u00eb nga ato s\u00ebmundje si Tuberkulozi ose HIV q\u00eb ne e trajtojm\u00eb n\u00eb m\u00ebnyr\u00eb rutinore me tre ose kat\u00ebr ila\u00e7e p\u00ebr nj\u00eb koh\u00eb t\u00eb gjat\u00eb. Dhe t\u00eb ket\u00eb efikasitet kur nj\u00eb ila\u00e7 nuk do t\u00eb funksiononte sepse do t\u00eb shfaqej rezistenca.<\/p>\n
N\u00ebse vijm\u00eb tek kanceri i mushk\u00ebrive I cili klasifikohet n\u00eb n\u00ebnlloje si kancer i qelizave skuamoze, adenokarcinoma, kancer t\u00eb qelizave t\u00eb m\u00ebdha, kancer t\u00eb qelizave t\u00eb vogla. Por n\u00eb fakt, kur sekuenconi gjenomin e kancerit mund t\u00eb shihni se ka mutacione q\u00eb jan\u00eb mutacione nxit\u00ebse n\u00eb nj\u00eb s\u00ebr\u00eb gjenesh. Dhe nj\u00eb nga ato \u00ebsht\u00eb gjeni ALK. Mund t\u00eb shohim q\u00eb pacienti ka s\u00ebmundje t\u00eb gjera n\u00eb mushk\u00ebrin\u00eb e majt\u00eb, I cili pacient gjithashtu kishte nj\u00eb lobektomi t\u00eb poshtme t\u00eb majt\u00eb. Kjo \u00ebsht\u00eb arsyeja pse rrezet X duken qesharake. Dhe pastaj, pas trajtimit, pas dy cikleve t\u00eb nj\u00eb ila\u00e7i t\u00eb quajtur nj\u00eb frenues i ALK, kanceri pastrohet. Pra, kjo jep shpres\u00eb t\u00eb madhe p\u00ebr numrin e vog\u00ebl t\u00eb pacient\u00ebve q\u00eb kan\u00eb kancer t\u00eb shkaktuar nga ALK dhe, natyrisht, problemi i v\u00ebrtet\u00eb \u00ebsht\u00eb se akoma nuk e kuptojm\u00eb se \u00e7far\u00eb nxit m\u00eb shum\u00eb kanceret.<\/p>\n
Pra, p\u00ebrsa I p\u00ebrket personalizimit t\u00eb mjek\u00ebsis\u00eb n\u00eb kancer, p\u00ebrfundimet jan\u00eb, se kanceri \u00ebsht\u00eb nj\u00eb s\u00ebmundje e gjenomit, mutacionet e fituara n\u00eb qelizat e kancerit shkaktojn\u00eb k\u00ebt\u00eb s\u00ebmundje, dhe ka histori t\u00eb ndryshme q\u00eb varion nd\u00ebrmjet pacient\u00ebve e q\u00eb i mbetet onkologut specialist ta vler\u00ebsoj\u00eb n\u00eb k\u00ebt\u00eb pik\u00eb. Identifikimi i mutacioneve dhe sh\u00ebnjestrimi me ila\u00e7e t\u00eb reja mund t\u00eb prodhoj\u00eb p\u00ebrgjigje klinike traumatike, por jo tek t\u00eb gjith\u00eb. Dhe ato p\u00ebrgjigje klinike traumatike mund t\u00eb mos jen\u00eb t\u00eb q\u00ebndrueshme p\u00ebr t\u00eb gjith\u00eb. Dhe do t\u00eb jet\u00eb shum\u00eb emocionuese ta shoh\u00ebsh t\u00eb ardhmen sesi me aplikimin e teknologjive gjenomike n\u00eb kancer terapit\u00eb e personalizuara do ta marrin vendin e tyre t\u00eb vlerave n\u00eb k\u00ebt\u00eb drejtim.<\/p>\n","protected":false},"excerpt":{"rendered":"
Dr. Egzon Abdullahi Mjek i Gjenetik\u00ebs Njer\u00ebzore Tel: +90 507 908 11 03 E-mail: contact@egzonabdullahi.com N\u00eb k\u00ebt\u00eb shkrim dua t\u00eb flas rreth gjenomik\u00ebs q\u00eb po p\u00ebrdoret p\u00ebr t\u00eb revolucionarizuar m\u00ebnyr\u00ebn se si njer\u00ebzit po i afrohen kancerit. Jo vet\u00ebm n\u00eb aspektin e trajtimit, por n\u00eb kuptimin e mekanizmave themelor\u00eb t\u00eb m\u00ebnyr\u00ebs se si ne, si […]<\/p>\n","protected":false},"author":1,"featured_media":64432,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[1946],"class_list":["post-65011","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-opinione","tag-egzon-avdullahi"],"_links":{"self":[{"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/posts\/65011","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/comments?post=65011"}],"version-history":[{"count":1,"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/posts\/65011\/revisions"}],"predecessor-version":[{"id":65012,"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/posts\/65011\/revisions\/65012"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/media\/64432"}],"wp:attachment":[{"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/media?parent=65011"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/categories?post=65011"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/prizrenpost.com\/al\/wp-json\/wp\/v2\/tags?post=65011"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}