Cowden Syndrome hi i hria em? A awlsam zawngin sawi ila!

I taksaah hian lump te te danglam tak tak a lo awm tih i hmu em? A nih loh leh i chhungkuaa mi pakhatin kum naupang tak atangin cancer a vei tih i hre tawh mai thei. A châng chuan heng thilte hnuaiah hian genetic condition hmuh tur awm lo tak a awm ṭhin. Chutiang dinhmun pakhat chu Cowden Syndrome a ni. Hemi chungchang hi vawiinah hian chipchiar deuhin kan sawi dawn em ni?

Cowden Syndrome hi eng nge ni?

A awlsam zawngin sawi ila, Cowden syndrome hi genetic condition hmuh tur awm lo tak a ni a, kan genes kaltlangin a kal zel a ni. Hetiang natna vei te hian cancer ni lo, tumor ang chi an nei tam zawk. Mahse, cancer chi hrang hrang an vei theihna chance a sang deuh hlek a ni.

Hei hi engtiang chiahin nge a hluar?

A tak tak lo. He natna, Cowden Syndrome tia koh hi a awm lo hle . Damdawi lama mithiamte sawi dan chuan mi sang hnih zinga pakhat velin a nghawng a ni. Mahse, a chang chuan a natna lan chhuah dan hi hriat chian a nih loh avangin hriat lohvin a awm thei.

Chuti a nih chuan Cowden Syndrome hi cancer a ni em?

Ni lo, Cowden syndrome hi cancer a ni lo. Mahse, he natna vei te hian cancer chi hrang hrang an vei tam zawk a , kum pangngai aia kum naupang zawk (early-onset) ah pawh an vei thei bawk. ‘Early-onset’ tih awmzia chu natna chu a pangngai aia kum naupang zawkah a lo awm tihna a ni. Entirnan, Cowden syndrome vei hmeichhia chuan kum 40 a tlin hmain hnute cancer a nei thei a, kum 60 a tlin hmain hnute cancer hi hmuh tur a awm lo tlangpui a, he natna nen hian cancer chi dang a awm thei bawk:

• Endometrial cancer (uterine cancer) 10. A rilru a hah lutuk chuan a rilru a buai em em a.
• Thyroid cancer (a bik takin `follicular thyroid cancer` an tih chi) .
• Colorectal cancer a ni
• Kidney cancer a ni
• Melanoma, vun cancer a ni

Cowden Syndrome leh PTEN hamartoma tumor syndrome hi eng nge an danglamna?

Hei hi thupui thuk deuh a ni a, mahse a awlsam zawngin ka sawi ang. `PTEN hamartoma tumor syndrome (PHTS)` hi `PTEN` gene inthlak danglamna (mutations) avanga inherited symptoms pawl a ni. Cowden syndrome vei mi pali zinga pakhat vel chuan `PTEN` gene-ah hian he mutation hi an nei tih hmuhchhuah a ni.

Mahse, an pahnih symptom hi a inang em em avangin Cowden syndrome emaw, a inang emaw i neih chuan i doctor chuan PHTS vei ang maiin a enkawl ang che. Hei hi a chhan chu cancer screening hmasa leh screening neih fo hi an pahnih ah hian a pawimawh vang a ni.

Cowden Syndrome natna lan chhuah dan chu engte nge ni?

Hetiang dinhmun chhinchhiahna hi kum 20 chhoah hian taksaah a lang tan fo thin. Mi thenkhat chuan Cowden syndrome an nei tih hi damdawi lam thurawn an lak hian an hmuchhuak chauh a, chu chu hamartomas an tih lumps vang emaw, kum naupan lai atanga cancer lo awm vang emaw a ni thei.

Hamartomas (‘ha-ma-to-mas’ tia lam tur) hi Cowden syndrome natna langsar ber leh langsar ber a ni. Cancer nei lo, tumor ang chi an ni. Taksa khawi hmunah pawh, chhungril leh pawn lamah pawh an lo thang lian thei a ni. Kawng, hmai leh lu vunah te an awm tam ber.

A lan chhuah dan dang pawh a awm:

• Lu pangngai aia lian zawk neih (macrocephaly) .
• Vunah hnah te tak te, hrual (trichilemmomas) te.
• Ke ruh, kutphah leh kut hnung lamah blister ang chi bumps chiang tak (acral keratosis) a awm.
• Lei, hmui, hmui hnunglam, leh tonsils-ah te wart ang chi a lo thang lian (`oral papillomatosis`).

Mahse hei hi hriat reng a pawimawh: Heng symptom thenkhat i neih vang mai mai hian Cowden syndrome i nei tihna a ni lo. Doctor te chuan heng symptoms bik te hi inzawmkhawm i neih chuan he natna hi an ringhlel tlangpui .

Eng thilin nge Cowden Syndrome hi a thlen?

Cowden syndrome hi i rochun genetic mutations thenkhat avanga lo awm a ni. A awlsam zawngin, kan taksaa cell-te lo thanglian dan, an inthen dan leh an thih dan chu gene-te hian a thunun a ni. Cowden syndrome-ah chuan heng genes-a chhiatna avang hian cell pangngai lote chu thunun theih lohvin an thang lian a, an awm tur hunah an awm reng thin. A tawpah chuan heng cell te hi an inzawm khawm a, cancer ni lo tumor hamartomas an siam ta a ni.

Scientist-te chuan he cancer, Cowden syndrome nena inzawm genes vei theihna tipungtu genetic changes hi an la zirchiang mek a ni. Cowden syndrome vei thenkhat chuan `PTEN` gene-ah mutation an nei lo. Mi tlemteah chuan gene dang, `PIK3CA/AKT1`, `SDHB-D`, `KLLN` leh `SEC23B`-ah te mutation hmuhchhuah a ni. Chuvangin, damdawi lam zirchiangtute chuan he thil hi an enfiah chhunzawm zel a ni.

Engtin nge hei hi thlah kal zelah a lo kal zel?

Cowden syndrome vei te hian he natna hi ``autosomal dominant pattern'' in an rochun thin a ni.Hei hian i nu leh pa dik tak pakhat atanga gene pangngai i rochun a, nu leh pa dang atanga mutated gene i rochun tihna a ni. Chumi awmzia chu naupang tin hian mutated gene hi an rochun theihna chance 50% an nei tihna a ni.

Cowden Syndrome vei theihna tur risk factors te chu engte nge ni?

Tun thlenga risk factor lian ber hmuhchhuah awmchhun chu chhungkaw history a ni . Chumi awmzia chu i chhungkuaa mi pakhatin Cowden syndrome a neih chuan nang pawhin i vei theihna chance a sang zawk tihna a ni.

Hetiang dinhmun avanga harsatna awm thei te chu engte nge ni?

Cowden syndrome i neih chuan cancer chi hrang hrang i vei theihna a sang hle. Tin, kum naupang takah cancer i vei thei bawk , a nih loh leh i dam chhungin cancer chi khat aia tam i vei thei bawk.Hun hrang hrangah a thleng thei a, chuvangin engtikah nge cancer screening neih tur tih leh eng chen nge i tih tur tih doctor nen inbiakna neih a pawimawh hle.

Doctor-te hian engtin nge Cowden Syndrome hi an hriat theih?

Cowden syndrome hi natna khirh tak a ni a, a lan chhuah dan leh a kaihhnawih natna tam tak a nei a ni. Heng symptoms pakhat emaw a aia tam emaw i nei a nih pawhin Cowden syndrome i nei tihna a ni hauh lo.

Cowden syndrome hriat chian nan doctor-te chuan i dinhmun chu inherited cancer syndromes lama tui doctor-te siam diagnostic criteria nen an khaikhin a. Hetiang kawngah hian i dinhmun chu major criteria leh minor criteria nen a inmil a ni . Heng criteria hrang hrangte hi a bik taka inzawmkhawm i neih chuan Cowden syndrome i vei tih hmuhchhuah a ni.

Doctor-te chuan Cowden syndrome i nei tih an ringhlel thei a, chu chu:

• `Macrocephaly` (lu lian) tih loh chu tehfung lian pathum a awm .
• Criteria lian pakhat emaw criteria tenau pathum emaw neih .
• Criteria tenau pali nei .
• I chhungte zinga pakhat chuan Cowden syndrome emaw, a kaihhnawih Bannayan-Riley-Ruvalcaba syndrome (BRRS) ang chi emaw a nei a .

Cowden Syndrome awm theihna tur tehfung

Doctor-te’n an ngaihtuah thin criteria lian leh te thenkhat chu hetiang hi a ni:

Thil tehfung lian ber berte:

• Hnute cancer a ni
• Endometrial cancer a ni
• Follicular thyroid cancer a ni
• Gastrointestinal (GI) tract-a hamartoma tam tak neih
• Macrocephaly (lu sir lutuk) 1.1.
• Glans penis-ah hian hmun dum (pigmented macules) a awm
• Vun phek pakhat an lak a, an endik (biopsy) chuan `trichilemmoma' chhinchhiahna a lang.
• Kut leh kea vun thim tam tak neih (palmoplantar keratosis) .
• Kawng chhungah (oral mucosal) wart ang chi (`papillomatosis`) tam tak awm .
• Hmai vunah (`cutaneous facial`) ah hian wart ang chi bumps (`papules`) tam tak a awm a.

Criteria tenau te: 1.1.

• Colon cancer a ni
• Esophageal glycogenic acanthosis (hei hi esophagus-a awm thin natna bik a ni) .
• Autism spectrum natna a ni
• Zirna lama harsatna nei te
• Papillary thyroid cancer natna a ni
• Thyroid lama harsatna (e.g. goiters, adenomas) .
• Kidney cancer a ni
• Thau thau (`Lipomas`) te hi a awm a.
• Digestive system-ah `hamartoma` pakhat chauh neih
• Testicles-a thau awm (`Testicular lipomatosis`) .

I doctor chuan Cowden syndrome i nei thei nia a ngaih chuan i chhungkaw chanchin a zawt ang a, genetic mutation i neih leh neih loh enfiah turin genetic testing pawh a ti thei bawk ang.

Hetiang dinhmun hi i nei nia i hriat chuan eng nge i tih ang?

Heng symptoms te hi i neih chuan genetics professional hnenah thurawn dil a pawimawh . Chumi hnuah chuan PTEN gene testing ang chi thil tih a ngai em tih chu an rel thei ang. Genetic counselor hnenah pawh an refer thei bawk . Genetic counselor hian PTEN mutation ang chi genetic condition-in a nghawng theih dan tur hriatthiamna a pe thei che a ni. Genetic testing result leh PTEN hamartoma tumor syndrome (PHTS) i neih chuan eng cancer screening nge i mamawh theih ang tih te pawh an sawifiah thei bawk. Cowden syndrome hi thil awm lo tak a nih avangin PHTS leh Cowden syndrome lama tui tak team emaw center emaw zawn a tha hle.

Doctor ten Cowden Syndrome hi engtin nge an enkawl?

Cowden syndrome hi natna chi hrang hrang nena inzawm a ni a, vun lama harsatna leh cancer te pawh a tel. Vawi tam tak chu miten Cowden syndrome an vei tih hi syndrome nena inzawm natna dang enkawl an nih laiin an hrechhuak thin.

Mahse, Cowden syndrome vei, mahse tuna cancer nei lote tan chuan cancer screening neih hmasak fo a pawimawh hle. Entirna tlemte chu hetiang hi a ni:

• Breast cancer tan: Kum 30 atanga kum tin mammogram neih tan a ni a, hnute dense nei tan pawh magnetic resonance imaging (MRI) scan neih a tha thei bawk.
• Thyroid cancer tan: Kum 7 atanga kum tin thyroid ultrasound neih thin a ni a, mahse, symptoms (e.g., thyroid nodule, ei harsa) i neih chuan heng test te hi tih hmasak a ngai mai thei.

Chutiang bawkin, i doctor pawhin cancer chi dang (e.g., uterine, kidney, colon cancer) chu a hun taka screening neih a rawt thei bawk a, chu chu i mimal dinhmun a zirin a ni.

Hetiang dinhmun nen hian eng nge i beisei tur?

Cowden syndrome i neih chuan i genetic counselor chuan i genetic testing result chu a hriatthiam theih nan a pui ang che. I genetic testing-ah PTEN hamartoma tumor syndrome (PHTS) i nei tih a hriat chuan eng cancer test nge i mamawh tih pawh an hrilhfiah bawk ang. Mi pangngai aia kum naupang zawk i nei thei .Heng cancer test te hi i tih tan a ngai mai thei. Mahse, heng test te hi i tih fo chuan cancer natna lanchhuahna pawh i neih hmain i hmu thei a ni.

Cowden Syndrome vei te dam rei zawng chu engzat nge ni?

Cowden syndrome vei dam rei zawng hi i mimal dinhmun a zirin a innghat a ni. Entirnan, kum naupan lai atanga hnute cancer i vei tih hmuhchhuah a nih a, a darh tawh chuan i dam rei zawng chu cancer vei hmasa ber leh enkawl tawhtu aiin a tawi zawk mai thei. Mahse, cancer screening rawtna neih hian cancer lo awm lo turin a pui thei che a, a tlem berah chuan enkawl theih a nih hunah a tir lamah i man thei bawk.

Engtin nge ka in enkawl ang? / Engtin nge i in enkawl?

Cowden syndrome i neih chuan cancer screening neih fo a pawimawh a, chu chuan cancer symptoms i neih hmain cancer a hmuchhuak thei a ni. I doctor hnenah i fimkhur tur symptom bik a awm a, chu chu cancer a ni thei tih zawt rawh. Cowden syndrome i neih chuan i genetic counselor hnenah chhungkaw member dangte pawhin genetic testing an neih a ngai em tih zawt la.

Doctor ka hmu tur em ni? / Doctor i hmuh tur em ni?

Ni e, a dik tak zet. Cowden syndrome, a bik takin ``germline PTEN mutation`` emaw ``PTEN hamartoma tumor syndrome (PHTS)) emaw i neih nia hriat i nih chuan cancer chi hrang hrang nen a inzawm a ni. I medical team chuan i hriselna zawng zawng leh cancer test neih fo result te uluk takin an enfiah ang.

Doctor hnenah eng zawhna nge ka zawh ang? / I doctor hnenah eng zawhna nge i zawh tur?

Doctor i hmuh hunah hetiang zawhna hi zawh a tha:

• "Hetiang dinhmun avang hian cancer chi khat ka nei a, cancer chi dang ka neih theih a ni em?"
• "Genetic test-ah `PTEN` gene mutated ka nei tih a lang. Ka chhungte dang zawng zawng hi he gene hi test tur em ni?"
• "Hetiang dinhmun hian nakin lawkah ka fate hi a nghawng thei ang em?"
• "Cowden syndrome ka nei a, mahse `PTEN` mutation hi ka nei lo. Chuti a nih chuan eng genetic mutation dang nge hetiang hi thlen thei?"
• "Genetic test-ah Cowden syndrome thlentu mutated gene ka nei tih a lang. Chu chuan cancer min thlen ngei ang em?"

Cowden syndrome hi natna hmuh tur awm lo, thlahtute atanga lo chhuak a ni a, hriat harsa tak a ni. PTEN hamartoma tumor syndrome (PHTS) i neih leh neih loh hriat chian nan geneticist pan a tha ber. Chumi hnuah chuan i doctor-te chuan i dinhmun ang zela enkawlna ruahmanna an ruahman thei ang. A châng chuan, genetic testing-a PTEN mutation a hmuh loh chuan, condition dang awm lo turin test hrang hrang engemaw zat neih a ngai mai thei. I genetic counselor chuan i tih tur chu a kaihruai ang che.

I taksaah thil dik lo a awm tih hriat chu ngaihtuahna hlauhawm tak a ni thei a, mahse eng nge a nih leh eng nge i tih tur tih i hre lo. Cowden syndrome i vei tih i hriat chuan i dam chhung zawngin cancer chi hrang hrang i vei thei tih hriatna nen i nun a ngai dawn a ni. Cancer natna lan chhuah hmaa hriat theihna test a awm tih i hriat pawhin, ngaihtuahna chu a hlauhawm tak zet thei a ni. Hetiang dinhmun hi i neih chuan i medical team te chuan i hriselna leh test result te chu an enfiah reng ang. Cancer a darh hmain enkawl turin hma an la nghal vat ang. Chuvangin, huaisen taka awm a, doctor thurawn zawm a, checkup neih fo a pawimawh.

A tawi zawngin (Take-Home Message)

Okay, chuvangin kan sawi tawh atang hian thil pawimawh tak tak i hriat reng tur thenkhat han thlir ila:

• Cowden Syndrome hi genetic condition awm lo tak a ni a, taksaah cancer ni lo lumps (hamartomas) a lo awm a, chubakah cancer chi hrang hrang (a bik takin hnute, thyroid, leh uterine cancer) vei theihna a tipung bawk.
• Hei hi direct cancer a ni lo va, mahse cancer vei theihna a nih avangin screening neih fo a pawimawh hle .
• Symptoms a inang lo. A bulpui ber chu lu lian tak (macrocephaly) leh vun leh hmuiah lump bik (specific lumps) te an ni. Heng symptoms ringawt hian natna a awm tih a tilang hauh lo va, damdawi lam tehfung hmanga hriat theih a ni.
• Hetiang dinhmun hi gene `PTEN` inthlak danglamna nen a inzawm fo thin. Hemi kawngah hian Genetic testing leh genetic counselling te hi a pawimawh hle.
• Enkawlna hi a bul berah chuan cancer hmuhchhuah hmasak leh enkawl hi a ni . Chuvangin, i doctor-in a rawtna test (mammogram, ultrasound, etc.) te chu a hun takah ti rawh.
• Hetiang dinhmunah hian rinhlelhna i neih chuan, emaw, i chhungkuaa mi tu emaw chuan heng natna lanchhuahna hi a nei a nih chuan, doctor pan hreh suh la, thurawn la rawh. Inhriattir a, hma lak hmasak a pawimawh hle.

Hetiang dinhmun nena nun hi thil harsa tak a ni thei tih hre reng la, mahse damdawi lam enkawlna leh puihna dik tak nen chuan i enkawl thei a ni. Nangmah chauh i ni lo.

` Cowden Syndrome, Genetic Diseases, Cancer Risk, PTEN Gene, Skin Lumps, Hematoma, Hereditary Diseases, Cancer Testing te