I taksaah hmun te te leh i pum chhungah tumor te i nei em? Peutz-Jeghers Syndrome (PJS) chungchang hi i zir dawn teh ang!

A chang chuan kan taksaah kan beisei loh thil a thleng thei a ni lawm ni? Nangmah emaw, i fa emaw hian i vunah, a bik takin i hmui chhehvelah hmun dum te te, i rilruah harsatna i nei bawk ang tih han ngaihtuah teh. Heng thilte hi i ngaihtuah angin a awlsam lo mai thei. Vawiin hian kan sawi dawn a, natna lan chhuah dan inang chiah chiah, a tlem deuh a, mahse hriat a pawimawh hle. Chu chu Peutz-Jeghers Syndrome (PJS) natna a ni.

Peutz-Jeghers Syndrome (PJS) hi eng nge ni? A awlsam zawngin i hrethiam ang u!

A awlsam zawngin sawi ila, Peutz-Jeghers Syndrome (PJS) hi i taksa chhungah hian thil te te (polyps) a lo awm a, chubakah i hmai, kut leh ke kephah ah te dum hring hring a lo awm bawk. Heng growth leh spot pahnih hi cancer tak tak an ni lo va, benign an ni tihna a ni . Mahse, PJS neih hian cancer vei theihna a tipung hle.

Heng dark spots (damdawi lamah chuan ``mucocutaneous hyperpigmentation'' tia koh) te hi PJS vei naupang te zingah hmuh tur a awm a, mahse hun kal zelah a bo zauh zauh thin. Ka sawi tawh ang chi (``hamartomatous polyps'' tia koh) hi i chaw ei kawngah (``(GI tract)'') a lo awm tlangpui. I ril, i pum, leh i ril lian (``(colon)'')-ah te an lang tam ber. Mahse, chaw ei kawng pawnah pawh an lo thang lian thei a, chu chu i kal, i bladder, lung leh hnar-ah te pawh a ni thei. Heng thang lian te hi cancer a lo ni thei a, harsatna hrang hrang a thlen thei a, enkawl ngai a ni.

PJS i neih chuan i doctor chuan cancer leh high-risk tumor a awm leh awm loh a enfiah fo ang.

He PJS condition hi engtiang chiahin nge a awm?

Peutz-Jeghers Syndrome (PJS) hi engtiang chiahin nge a hluar tih chiang taka sawi a harsa a, a chhan chu zirchiangtute hian number dik tak an la nei lo. Mahse mi 300,000 zinga 1 atanga mi 25,000 zinga 1 thlengin khawi hmunah pawh a nghawng thei niin an ngai. Chuvangin, a ni, a awm lo hle .

PJS natna lan chhuah dan chu engte nge ni? Engtin nge i hriat chian?

PJS hian dark spots (hei hi naupang tê têah hmuh tur a awm) leh ``hamartomatous polyps'' an tih (hei hi naupang tê leh puitlingah hmuh theih a ni) a thlen ber a ni.

Hmun thim tak tak:

Peutz-Jeghers Syndrome vei naupang tê tête chuan blue-gray emaw brown emaw an nei ṭhin. Hengte hi a chang chuan freckles tia sawi sual a ni. Heng spot te hi naupang kum 1-2 a nih atanga a lo lang tan tlangpui a, an tleirawl lai a thlen meuh chuan a bo zauh zauh thin. Heng spot te hi 1 mm (pencil tip hrual ang vel) atanga 5 mm (pencil eraser ang vel) thleng a ni thei. Taksa peng hrang hrangah an lang thei a:

• Ka hmui chungah emaw, a chhehvelah emaw (hei hi a tam ber) .
• Kawng chhungah
• Hnar
• Mit vel chu
• Kut zungtang
• Chelh
• A hnuai lam
• Anus vel a ni

Digestive tract-a tumor awm avanga natna lan chhuah dan:

Symptom dangte chu chaw ei kawng (a bik takin intestines emaw stomach)-a thanlenna (polyps) emaw, chutiang thanna avanga harsatna awm emaw nen a inzawm a ni. Heng symptoms te hi kum 10 leh 30 inkar i nih chuan a lang tlangpui a, heng symptoms te hi a lo thang lian thei a, chu chu:

• Pum natna (`(Pum na)`) .
• Nausea leh luak chhuak (`(Nausea and vomiting)`) .
• Gastrointestinal bleeding (`(Chaw chhung thisen chhuak)`) .
• I ek chhungah thisen (`(Blood in your stool)`)
• Anemia (thisen chhuah tam vangin taksaa iron level a tlahniam thei) .

PJS hi eng thilin nge a thlen?

Peutz-Jeghers Syndrome vei tam zawk chuan ``STK11'' tih gene copy khatah mutation (or change) an nei a. He ``STK11'' hi tumor titawptu gene a ni. Phên dangin sawi ila, he gene hi cell thanna control tu switch ang a ni. He gene hian hna a thawk tha lo a nih chuan light eng reng reng, off tur nei lo ang mai a ni. Cell te chu an inthen darh zel a, an thang lian zel a, an inzawm khawm a, tumor an siam ta a ni.

PJS vei zinga 80% vel chuan an nu leh pate hnen atangin gene mutation hi an rochun a, chu chu an nu emaw an pa emaw atanga an rochun tihna a ni. A dang 20% ​​chuan mutation hi an nei a, mahse an chhungkuaah hian he natna hi an la nei lo a, a nih loh leh mi thenkhat chuan mutation hi an nei lo tak tak lo. Chhungkaw history nei lo `(STK11)` gene mutation nei te hian an dam chhungin engtik lai pawhin he mutation hi an nei tawh a rinawm. Mahse, scientist-te chuan `(STK11)` gene mutation tel lo chuan PJS hi engtin nge a lo thanglian tih hi chiang takin an la hre lo.

Engtin nge PJS hi lineage atanga lo chhuak?

A tlangpuiin naupang hian PJS gene hi nu leh pa, gene mutation nei a\angin a rochun \hin. PJS thlentu mutation hi autosomal dominant pattern-a inherit a ni.

Hetiang hian a thleng thin: Nu leh pa pahnih hian gene `(STK11)` copy pakhat chu an fa hnenah an pe chhuak thin. PJS symptoms leh complications i neih theihna chance a sang zawk a nih chuan he mutated gene hi nu leh pa pakhat chauh hnen atangin i rochun a ni ngei ang.

He gene mutation hi i neih chuan i fa pawhin a neih ve theihna chance 50% a awm.

PJS avanga harsatna awm thei te chu engte nge ni?

Hei hi a harsatna lian ber chu cancer a ni . Zirchiangtute chuan PJS i neih chuan i dam chhungin cancer vei theihna chance chu 93% vel a ni thei niin an sawi. Chuvang chuan i doctor chuan cancer a screen reng ang che. Chutiang chuan a hmaa hriatchhuah theih a ni a, enkawl theih a ni bawk.

Harsatna dangte chu:

• Intussusception of the small bowel : Hei hi i small intestine thenkhat chu chhung lam hawia a inzawm khawm lai a ni a, chu chu sock chhung lam hawia a inher ang maiin a ni. Hei hi thil lian tak (polyp) pakhatin intestine kal tlanga kal a tum hian a thleng thin. Hetiang dinhmun hian PJS vei zinga 69% thleng a nghawng thei a ni.
• Small bowel obstruction (`(Thinlung te tak te inkharkhip)`) .: Chu tumor chuan i small intestine a block thei. PJS vei zinga 50% vel chuan intestinal blockage an nei ang a, kum 20 an tlin hmain operation neih a ngai ang.
• Gastrointestinal bleeding : Tumor hian chaw ei kawng tissue-ah pressure a siam thei a, thisen a chhuak thei a ni.
• Iron-deficiency anemia: Thisen chhuah chhunzawm zel chuan taksaa iron level a ti tlahniam thei a, chu chuan thisen tlakchhamna a thlen thei a ni .

Hmeichhiaah chuan ovarian tumor chi khat ``sex-cord tumors'' an tih leh cervical cancer chi khat, na tak, ``adenoma malignum'' tih chu a lo awm thei a ni. Heng tumor te hian thlasik hun mumal lo leh puitlin hma a thlen thei a ni.

Mipa hian an testicles-ah sex-cord leh Sertoli-cell type tumor an nei thei a. Hei hian hnute (gynecomastia) a siam thei a, puitlin hun a paltlang hma thei a, an ruh chu a pangngai aia rang zawkin a thang thei (advanced skeletal age), a pangngai aia tawi zawk pawh a ni thei bawk.

PJS nena inzawm cancer hlauhawmna chu eng nge ni?

Peutz-Jeghers Syndrome (PJS) hian chaw ei leh taksa peng dang cancer vei theihna a tipung a ni. PJS vei mi pakhatin cancer a vei chuan kum 42 vel a ni tlangpui a, PJS vei zinga cancer chi hrang hrang awm tam ber leh an rates te chu hetiang hi a ni:

• Colorectal cancer: 40% thleng a ni.
• Hnute cancer: 30% atanga 50% thleng.
• Pancreatic cancer (`(Pancreatic cancer)`): 11% atanga 36% inkar a ni.
• Pum cancer: 30% thleng.
• Ovarian cancer (`(Ovarian cancer)`): 20% a ni.
• Lung cancer (`(Lung cancer)`): 15% a ni.
• Small bowel cancer (`(Small bowel cancer)`): 13% thleng a ni.
• Cervical cancer (`(Cervical cancer)`): 10% a ni.
• Uterine cancer: 10% aia tlem.
• Testicular cancer: 10% aia tlem lo.
• Chaw ei kawng cancer: 2%.

Heng risk percentage te hi i hmuh hian hlau suh. A pawimawh ber chu a hun taka test neih hi a ni. Tichuan, eng emaw a awm a nih chuan hriatchhuah leh enkawl thuai theih a ni.

PJS hi engtin nge kan hriat theih ang? (Diagnosis) tih a ni.

PJS vei nia hriat tam zawk chuan doctor an pan a, a chhan chu an rilru a buai (bowel obstruction) emaw intussusception (intestinal intussusception) emaw symptom an neih vang a ni. PJS hmuhchhuah kum zat chu kum 23 vel a ni. Doctor-te chuan PJS hmuhchhuah nan a hnuaia mite hi an zawng thin:

• Chhungkaw zingah PJS nei an awm leh awm loh history.
• Taksaah hmun dum a awm.
• Polyps chu chaw ei kawngah a awm.

Tin, `(STK11)` gene-ah hian mutation a awm em tih an enfiah mek bawk.

He natna hi hriat theih nan eng test nge tih thin?

I doctor chuan imaging procedure hrang hrang a ti thei a, a bik takin test-ah chuan camera (scope) nei tube hmanga i chaw kawng chhunga tumor awmte chu a zawng thei a ni. Heng test-ah hian:

• Colonoscopy : Hei hian i intestine lian tak a enfiah thin.
• Upper endoscopy : Hei hian i chaw kawng, i pum leh i rilru chhungril (small intestine) chunglam a enfiah thin.
• `(Capsule endoscopy)` : Hetah hian camera te tak te awmna capsule i ei thin. I digestive system a kal pelh rualin thlalak a la thin.

Thisen sample la in iron-deficiency anemia a awm leh awm loh i enfiah thei bawk. STK11 gene mutation i neih leh neih loh hriat nan i thisenah genetic test i ti thei bawk.

Peutz-Jeghers Syndrome (PJS) hi engtin nge enkawl a nih?

I doctor-te chuan i taksa peng hrang hrangte an enfiah ber ang a, chu chu cancer emaw, tumor avanga harsatna dang emaw a awm leh awm loh enfiah tihna a ni.

Colonoscopy hmang hian intestine lian chhunga tumor awmte chu a paih chhuak thei a ni. A tul chuan pum chhung leh small intestine chunglam (duodenum)-a tumor awmte pawh biopsy-in lakchhuah theih a ni bawk. A châng chuan, balloon-assisted enteroscopy tih test hmangin small intestine thuk zawka tumor awmte chu hmuh leh paih chhuah theih a ni.

A then phei chuan a tumor te chu lakchhuah nan operation neih a ngai thei bawk. Surgeon-te chuan tumor chu pakhat hnu pakhatin an la chhuak thei tlangpui a, intestine hmun thenkhat chu an la chhuak lo.

Eng ang screening nge ka neih a ngai dawn?

Hei hi a pawimawh ber a ni. PJS i neih chuan test hrang hrang neih fo a ngai dawn a ni. Hei hi tithinur deuh angin lang mah se, i hriselna humhim a pawimawh hle.

Test neih dan tlangpui chu hetiang hi a ni:

• `(CT/MRI enterography)` emaw `(video capsule endoscopy)` emaw a ni thei ang :
• Kum 8-10 inkar atanga tan tur a ni. Tumor a awm chuan kum 2-3 danah tih leh thin ang che.
• Tumor a awm loh chuan kum 18 i tlin hma nghak la, test tan leh la, kum 2-3 danah tih tur a ni.
• A tlai lutuk chuan kum 12 atanga tan tur a ni a, thei i neih chuan kum tin emaw, kum 2-3 danah emaw ti thin ang che.
• `(Endoscopy chunglam)` : 1.1.
• Kum 12 atanga tan tur a ni a, nuts i neih chuan kum tin, emaw kum 2-3 danah emaw ti thin ang che.
• `(Magnetic resonance cholangiopancreatography (MRCP))` emaw `(endoscopic ultrasound)` emaw a ni thei bawk .
• Kum 25-30 a\anga \anin kum 1-2 danah tih tur a ni.

Hmeichhia tan test bik:

• Kum 25 a nih atangin kum khatah vawi hnih Doctor hnenah hnute enfiah tir thin ang che.
• Kum 25 a\angin kum tin mammogram leh hnute MRI neih thin tur a ni.
• Kum 18 atanga 20 inkar, kum tin pelvic exam leh Pap smear neih thin tur a ni.
• Kum 18 atanga 20 inkarah kum tin `(transvaginal ultrasound)` (hei hi a pawimawh lo, damdawi lam thurawn angin).

Mipa tan test bik:

• Kum 10 a\angin kum tin testicular exam i nei tur a ni. Tin, hmeichhe lam thila inthlak danglamna eng pawh, hnute lo thanglian ang chi te pawh i hriat a ngai bawk.

Peutz-Jeghers Syndrome (PJS) hi ven theih a ni em?

PJS hi thlahtute atanga lo piang a nih tlangpui avangin a lo awm loh nan engmah tih theih a awm lo tak zet a ni.

Mahse, i tih theih thil a awm. PJS i neih chuan chhungkaw member dangte hnenah hriattir la, genetic counseling la turin fuih bawk ang che. He evaluation hian PJS gene mutation a awm leh awm loh a enfiah ang. STK11 gene mutation pawh an neih chuan cancer laka invenna leh hrisel taka awm theihna tura pui turin rawtna an dawng ang.

PJS i neih chuan i fa pawhin gene mutation a neih theihna chance 50% a awm. Mahse chu risk tihtlem nan chuan duhthlan tur thenkhat a awm.

Entirnan, naute neih nan in vitro fertilization (IVF) i hmang a nih chuan preimplantation genetic diagnosis (PGD) tih hi i lo enchhin ve mai thei. PGD ​​hian fertilized embryos te chu genetic mutations an neih leh neih loh test a ni.

Mahse, PGD hi thil buaithlak leh man to tak a nih avangin thutlukna siam hmain genetic counselor nen sawiho hmasak a tha ber.

Peutz-Jeghers Syndrome natna hi eng ang nge ni? (Hmuh dan tur) .

Peutz-Jeghers Syndrome (PJS) hi tihdam theih a ni lo. Nun chhung zawnga awm thei a ni a, i fate hnenah pawh kai darh theih a ni. PJS i neih chuan polyp awm leh awm loh enfiah fo tur a ni a, cancer a nih theih avangin emaw, intestinal obstruction a thlen thei a, operation a ngai a ni.

Ka doctor hnenah eng nge ka zawh ang?

PJS i neih chuan doctor hnenah heng zawhnate hi zawh theihnghilh suh:

• Eng ang screening nge ka neih a ngai ang? Engtianga zingin?
• Eng symptom nge a lo awm a nih chuan ka biak nghal tur che?
• Eng ang enkawlna nge ka mamawh?
• Eng ang specialist nge ka thawhpui a ngai dawn?
• PJS neih hian engtin nge ka fertility plan-ah nghawng a neih ang?

Peutz-Jeghers Syndrome (PJS) vei tan chuan an doctor nen thawhhona tha tak neiin an dinhmun enfiah a pawimawh hle .. Doctor appointment pangngaia kal hi a chang chuan a hahthlak thei a, a hahthlak thei bawk. Mahse i hriselna chungchânga awm reng a pawimawh. Cancer ang chi complication hriat hmasak hian hrisel zawk, dam rei zawk i neih theih nan kawng thui tak a zawh thei a ni. I natna hmuhchhuah hian i nunphung leh hun rei tak chhunga hriselna a nghawng dan tur chu i doctor nen sawiho rawh.

He thawnthu atang hian kan hriat reng tur thil (Take-Home Message) .

Okay, chuvangin Peutz-Jeghers Syndrome (PJS) chungchanga hriat reng tur pawimawh tak tak kan sawi tawhte kha han khaikhawm ila:

• PJS hi genetic condition a ni a, taksa chhungah tumor a siam a, vunah a hring a, cancer vei theihna a tipung bawk .
• I hmui vel leh ke ruh (a bik takin naupan laiin), pum na, leh ek chhunga thisen awm ang chi symptoms i neih chuan doctor lam pan a pawimawh hle .
• Hei hi rochun atanga lo chhuak a nih theih avangin chhungkaw zinga mi tu emaw chuan a neih chuan midangte pawhin genetic test leh counseling an neih hi thil tha tak a ni .
• PJS i neih chuan screening neih fo a pawimawh . Hei hian cancer leh harsatna dangte chu a hmain a hriat theih nan a pui thei a ni.
• Hei hi dam chhung zawnga awm ni mah se, damdawi lam enkawlna leh enkawlna dik tak a awm chuan nun pangngaiin i nung thei a ni . Hlauthawng suh, fimkhur zawk rawh.

Hemi chungchanga zawhna dang i neih chuan i doctor nen inbia ang che. I tana tha tur thurawn an pe thei che a ni.

` Peutz-Jeghers Syndrome, PJS, genetic disease, gastrointestinal tumor, vun natna, cancer hlauhawmna, STK11 gene, colonoscopy, endoscopy