Yu de gɛt bɔku bɔku tin dɛn we nɔ kɔmɔn na yu bɔdi? Dis kin bi PTEN Hamartoma Tumor Syndrome (PHTS)!

Yu dɔn ɛva notis strenj tin dɛn ɔ bɔmp dɛn na yu bɔdi ɔ sɔmbɔdi na yu famili? Sɔm pan dɛn kin tan lɛk se natin nɔ de fɔ wɔri bɔt, bɔt sɔntɛnde dɛn kin bi sayn fɔ se pɔsin gɛt sik. Tide, wi go tɔk bɔt wan pan dɛn kɔndishɔn dɛn de we yu fɔ wɔri bɔt.

Wetin na PTEN Ɛmatoma Tumɔr Sindrom (PHTS)?

Fɔ tɔk am simpul wan, PTEN Hamartoma Tumor Syndrome (PHTS) na wan grup fɔ sik dɛn we kin kam bikɔs ɔf chenj, ɔ muteshɔn, na wan jin we dɛn kɔl `PTEN` na wi bɔdi. Naw yu kin de aks wetin na di `PTEN` jin. Imajin se pɔsin de na wi bɔdi we de kɔntrol aw di sɛl dɛn de gro, we de du tin lɛk pɔsin we de gayd am. Na so dis `PTEN` jin tan. Dis na `tכmכr supεrshכn jin` . wetin i de du na fכ mek wan `εnzym` we de stכp wi sεl dεm fכ gro we wi nכ de kכntro εn fכm tכmכro.

so, we mכtεshכn de, כ difεkt, insay dis `PTEN` jin, di kכntrol fכ di sεl gro nכ de wok fayn fayn wan. afta dat di sεl dεm kin bigin fכ gro we dεn nכ kin kכntro, εn tin dεm we dεn kכl `hamartomas` kin fכm. hamartoma na wan tin we nɔ gɛt kansa (`benign`) , we nɔ denja, we tan lɛk tumor. If yu gɛt PHTS, yu de pan risk fɔ gɛt dɛn kayn ɛmatoma ɛn ɔda tɔŋ dɛn we nɔ gɛt kansa. כlso, sכmtεm de risk de fכ kεnsar (`malignant`) , tכmכro, we min kεnsar.

Us kayn sindrom de fɔdɔm ɔnda di PHTS kategori?

Dis brayt kategori fɔ PHTS inklud tu men sindrom: Cowden sindrom ɛn Bannayan-Riley-Ruvalcaba sindrom (BRRS) . Dɔktɔ dɛn bin de tek dɛn tu tin ya as difrɛn kɔndishɔn, bɔt naw dɛn ɔl tu gɛt fɔ du wit di chenj dɛn we de apin na di PTEN jin, so dɛn grup dɛn ɔnda di sem ɔmbrela wɔd, PHTS.

Di wɛl bɔdi prɔblɛm dɛm wae pɔrsin wae gɛt PHTS kin gɛt, ilɛksɛf na Cowden syndrome ɔr BRRS, kin rili fiba. Sɔmtɛm, pɔrsin wae gɛt PHTS kin gɛt sɔm kayn sik wae gɛt fɔ du wit ɔl tu di sik wae de kam pan pɔrsin in layf.

• Cowden syndrome: Dis kin kam pan big pipul dɛm. Dɛn pipul ya kin gɛt benign ɛn malignant tumor. dis tכmכro dεm kin apin mכst na di brεst, uterus, tayroyd gland, gεstrointestinal trakt, skin, tכng, εn gכm.
• Bannayan-Riley-Ruvalcaba syndrome (BRRS): Dis kin afɛkt yɔŋ pikin dɛn mɔ. Pikin dεm we gεt BRRS kin gεt skin tכmכro εn bכn mak dεm. Dɛn kin gɛt dilɛys bak fɔ divɛlɔp .

Wetin na di sayn dɛm fɔ PHTS?

PHTS kin mek hεmatoma fכm na difrεn tisu dεm na yu bכdi. Di rayt sayn dɛm wae yu go gɛt go difrɛn difrɛn wan fɔ di kayn PHTS wae yu gɛt. In jɛnɛral, if yu gɛt PHTS, yu kin gɛt wan ɔr mɔr pan dɛn sik ya:

Skin spat ɛn bɔyl

• sכm sכm tin dεm we de gro we lεk se dεn de hang pan di skin (skin tεg כ akrochכdכn) .
• dak, flat spat dεm na di palm dεm εn di sכl dεm na di fut dεm (palmoplantar keratoses ).
• Smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl smɔl.
• Skin kɔlɔ, bɔmp dɛn we rayz ( papillomas ).
• Fεt tכmכro dεm ( lipomas ) we de divεlכp כnda di skin.
• Had lumps we tan lεk gכm insay di mכt (oral fibromas ).
• di blכd vεsul dεm we de gro we yu de si na di skin ( hεmangiomas εn bכn mak dεm ).
• Freckles pan di man genitalia (`freckling pan yu penis` ).

Di kayn tכmכro dεm we nכ de kεnsar (`Benign`).

• Tayroyd nodul ( lumps in di tayroyd gland).
• di tayroyd gland we de big wit di fכmeshכn fכ sεvεra nodul dεm (multinodular goiters ).
• di tכmכro dεm na di uterus ( uterine fibroids ).
• Fibroadenomas na di bɔdi .
• di sistik sכft tisu de chenj na di brεst ( fibrocystic breasts ).
• sכm sכm growth dεm we de fכm na di כp pat pan di dijestiv trakt εn big intestin (kכlon polyps ).

Prɔblɛm dɛn we de na di bren ɛn di divɛlɔpmɛnt

• fכ gεt ed we big pas nכmal (macrocephaly ).
• Fɔ gɛt patikyula ed we lɔng ( dolichocephaly ).
• Divɛlɔpmɛnt dilɛys dɛn .
• Ɔtizm spɛktrum disɔda (Autism spɛktrum disɔda ).

Wetin kin mek pɔsin gɛt PHTS?

as wi bin dכn tכk bכt, di men kכz fכ PHTS na di mכtεshכn, כ chenj, na di `PTEN` jin. dis `PTEN` jin de rispansabl fכ rilis wan `εnzym` we de signal sεl dεm fכ stכp fכ divayd εn i de signal bak we wan sεl fכ day (`apoptosis`). Dɔn dis kin mek ples fɔ nyu sɛl dɛn we gɛt wɛlbɔdi.

insay PHTS, di PTEN jin nכ de wok fayn fayn wan. Dis kin mek di sɛl dɛn kɔntinyu fɔ sheb ɛn gro we dɛn nɔ ebul fɔ kɔntrol. Afta sɔm tɛm, dɛn sɛl ya kin gro togɛda fɔ mek tumbu dɛn. Pan ɔl we dɛn tumbu ya nɔ kin fayn, sɔntɛnde dɛn kin gɛt kansa.

PHTS na wan jεnεtik kכndishכn we de pas dכn tru jεnereshכn.Dat min se pikin dɛn kin gɛt dis jin we dɔn chenj frɔm dɛn mama ɛn papa.

Aw PHTS kɔmɔt frɔm di layn?

Yu inhɛrit PHTS insay wan ``ɔtosɔmal dominant`` patɛn . Yu no wetin dat min? wi כl gεt tu kכpi fכ di ``PTEN`` jin na wi bכdi. Wan frɔm wi mama, wan frɔm wi papa. insay di kes fכ PHTS, yu inhεrit wan hεlty kכpi fכ di ``PTEN`` jin εn wan kכpi we ``mutated``. ivin if yu gεt wan hεlty kכpi, di mutated ``PTEN`` jin de mek di prכblεm dεm we de asai wit PHTS. dis min se ivin if na wan pan di mama εn papa nכmכ gεt di mutated jin, 50% chans de fכ mek dεn pikin gεt am.

Sɔntɛnde, yu nɔ kin gɛt di mutated PTEN jin frɔm yu mama ɛn papa. Bifo dat, di muteshon kin divεlכp bifo dεn bכn yu, i kin bi lεk εmbriyo כ fetus .

i nכ mata aw yu gεt dis mכtεshכn, if yu gεt am, yu pikin gεt 50% chans fכ gεt da mכtεshכn jin kכpi de.

Wetin na di risk fɔ gɛt kansa we gɛt fɔ du wit PHTS?

If yu gɛt Cowden syndrome, yu gɛt bɔrku risk fɔ gɛt sɔm kayn kansa pas di jenɛral pipul dɛm. So, yu fɔ gɛt kansa skrinin ɔlsay na yu layf fɔ manej dis risk. Pan ɔl we dɛn tɛst ya nɔ kin ebul fɔ mek kansa nɔ kam, if dɛn no am kwik, dɛn kin bigin fɔ trit am kwik ɛn di rizɔlt kin bɛtɛ.

De kayn kansa wae yu kin gɛt pasmak risk fɔ gɛt na:

• Brɔst kansa
• Tayrɔyd kansa
• Kidni kansa
• Kansa na di uterin
• Kansa we de na di kɔlɔrɛkt
• Melanoma, we na wan kansa we de na di skin

Fɔda risach stil de go bifo pan di kansa risk we gɛt fɔ du wit BRRS.

Aw dɛn kin no se pɔsin gɛt PHTS?

Yu dɔktɔ go no if yu gɛt PHTS if dɛn fɛn wan muteshon na di PTEN jin. Yu go nid fɔ du jenɛtik tɛst fɔ si if yu gɛt dis muteshon. Bɔku tɛm dɛn kin du dis tru blɔd tɛst .

Dɛn gɛt gaydlain fɔ tɛst jenɛtik fɔ no if pɔsin gɛt Cowden syndrome (fɔ ɛgzampul, frɔm di Nashɔnal Kɔmprɛhɛnsif Kɛnsa Nɛtwɔk ɛn di Klivlan Klinik). Dɛn kin ɔpdet dɛn gaydlain ya ɔltɛm bay we dɛn de du nyu risach. Di Intanɛshɔnal Kawden Kɔnsɔtyushɔn dɔn mek krayteria bak fɔ no if pɔsin gɛt Kawden sindrom. Yu dɔktɔ go disayd if yu nid dis tɛst bay di sayn dɛm we yu gɛt, di famili histri bɔt di tumbu, ɛn if yu gɛt PTEN muteshon.

Pan ɔl we no standad gaydlain nɔ de fɔ no if yu gɛt BRRS, yu dɔktɔ kin tɛl yu fɔ du di sem tɛst dɛn we dɛn kin du fɔ no if yu gɛt Cowden syndrome.

Di tin we impɔtant pas ɔl na dat if dɛn kɔnfyus se yu gɛt dis muteshon, i rili impɔtant fɔ mek ɔda pipul dɛn na yu famili gɛt dis tɛst bak.

Yu tink se PHTS kin wɛl ɔltogɛda?

I sɔri fɔ no se naw, no mɛrɛsin nɔ de fɔ PHTS. Bɔt sayɛnsman dɛn de kɔntinyu fɔ du risach bɔt us tritmɛnt dɛn we go wok fayn fɔ kansa dɛn we gɛt PTEN muteshon.

Aw dɛn kin trit ɛn manej PHTS?

If yu gɛt PHTS, yu kin gɛt wan tim fɔ dɔktɔ dɛn we de luk fɔ yu wɛlbɔdi. Dɛn go ɛp yu fɔ manej ɔltin frɔm yu sik dɛn to we yu nɔ de gro fayn to we yu de delay fɔ gro. Dɛn go asɛs bak yu kansa risk ɛn disayd aw ɔltɛm yu fɔ gɛt kansa skrinin.

Di we aw dɛn kin trit am

Pan ɔl we nɔr patikyula gaydlain nɔr de fɔ trit tumbu, kansa ɔr nɔr kansa, wit PTEN muteshon, tritmɛnt go dipen pan yu simptom dɛm. Dɛn tritmɛnt ya kin bi:

• Ɔpreshɔn: Na di we aw dɛn kin pul di tisu dɛn we nɔ nɔmal. Bifo di ɔpreshɔn, di dɔktɔ kin tek wan sampul pan di tisu fɔ chɛk fɔ si if di kansa sɛl dɛn de ( wan bayɔpsi ).
• Krayotɛrapi: Na fɔ yuz kol we pasmak fɔ pwɛl di tisu we nɔr de.
• Laser ablation: Na di yus fɔ ay ɔt fɔ pwɛl di abnɔmal tisu.
• Krim dɛn we dɛn kin put pan pɔsin in bɔdi we gɛt mɛrɛsin: Spɛshal krim dɛn we dɛn mek fɔ pwɛl di tumbu dɛn we de na di skin.

Test fɔ gɛt kansa

If yu gɛt Cowden syndrome, yu go nid fɔ gɛt sɔvɛlayshɔn ɔltɛm, fɔ ɔl yu layf fɔ wach fɔ ɔl tu di growth dɛm we nɔto kansa ɛn kansa. Dis min se if ɛni prɔblɛm kam, dɛn kin kech am kwik kwik wan, di bɛst tɛm fɔ trit am. Pan ɔl we nɔr standad gaydlain nɔr de fɔ wach pipul dɛm wae gɛt BRRS, yu dɔktɔ kin tɛl yu fɔ du tɛst dɛm wae fiba di wan dɛm wae dɛn kin du fɔ Cowden syndrome.

Dɛn we ya fɔ tɛst kin gɛt dɛn tin ya, we dɛn kin du bɔku tɛm:

• Mamogram: Na tɛst we dɛn kin yuz smɔl doz ɛkstrem rayt fɔ tek pikchɔ fɔ di bɔdi tisu.
• Breast MRI: Na tɛst we dɛn kin yuz big magnet ɛn redio wev fɔ tek pikchɔ fɔ di brɛst tisu.
• Ultrasound: Na tɛst we dɛn kin yuz sawnd wev fɔ tek pikchɔ fɔ di tisu na di bɔdi.
• Kolonoskopi: na tεst we de luk insay di big intestin we dεn de yuz tכb (skop) we gεt kεmεra. Dɛn kin yuz dis tiub bak fɔ pul di polip dɛn. Dis kin stɔp di growth bifo dɛn bi kansa.
• Ɛndoskopi (`Ɛndoskɔpi dɛn`): .tεst we dεn de put tכb (skop) we dεn tay kεmεra fכ luk di εsophagus, bεlε, εn כp pat pan di sכmכl intestin (duodenum).

dipכnt pan di tεst risכlt, dεn kin nid f כ tek bayopsi fכ kכnfכm if di abnכmal tisu gεt kansa sεl dεm.

Yu tink se dɛn kin mek dɛn nɔ gɛt PHTS?

No we nɔ de fɔ mek dɛn nɔ gɛt PHTS. Bɔt fɔ chɛk kansa ɔltɛm kin ɛp fɔ no kansa kwik, we dɛn kin trit am mɔ. So, i impɔtant fɔ mek yu du dɛn skrinin ya lɛk aw yu dɔktɔ tɛl yu.

Us kayn fiuja pɔsin we gɛt PHTS kin ɛkspɛkt?

Yu tumara bambay de pan bɔku tin, lɛk aw yu de si yu sik ɛn ɔl yu wɛl bɔdi. If yu gɛt PHTS/Cowden syndrome, yu gɛt mɔ risk fɔ gɛt sɔm kayn kansa. Na dat mek i rili impɔtant fɔ chɛk fɔ si if pɔsin gɛt kansa. Fɔ kech ɛn trit kansa kwik na di bɛst we fɔ mek yu gɛt chans fɔ wɛl (prognosis).

Ustɛm a fɔ go to dɔktɔ?

Fɔ fala yu dɔktɔ in instrɔkshɔn bɔt aw ɔltɛm yu fɔ gɛt kansa. I impɔtant bak fɔ no di wɔnin sayn dɛm fɔ kansa. Aks yu dɔktɔ us sayn dɛn yu fɔ no bɔt.

Fɔ no se yu ɔ yu pikin gɛt sik lɛk PHTS kin rili tranga. Na wan sik we pɔsin fɔ pe atɛnshɔn to ɔltɛm. I kin mek bɔku pipul dɛn at pwɛl. Bɔt if yu tek tɛm chɛk yu layf, dat kin ɛp yu fɔ sev ɔ mek yu layf lɔng if yu gɛt kansa. If dɛn no se yu gɛt PHTS, mek shɔ se yu lan bɔt yu wɛlbɔdi prɔblɛm, aw yu mɛdikal tim go wach yu wɛlbɔdi, ɛn aw yu tritmɛnt plan go mek yu gɛt wɛlbɔdi fɔ lɔng tɛm.

Aw di PTEN jin de mek pɔsin gɛt kansa?

as wi bin dכn tכk bכt, wan mכtεshכn na di PTEN jin kin mek di sεl dεm gro we dεn nכ ebul fכ kכntrכl εn fכm tכmכro. pan ɔl we PHTS kin gɛt fɔ du wit di tɔŋ dɛn we nɔ gɛt kansa we dɛn kɔl ɛmatomas, dis sɛl we dɛn nɔ kin kɔntrol kin mek i gɛt kansa bak. di tu kayn tכmכro dεm na we di sεl dεm de sheb kwik kwik wan. pan ɔl we di tכmכro dεm we nכ gεt kεnsar de na di say we dεn de, di tכmכro dεm we nכ gεt kεnsar kin spre כlsay na di bכdi (mεtastasize) . We dɛn du dat, di kansa sɛl dɛn kin pwɛl di tisu we gɛt wɛlbɔdi.

Smɔl pɔynt dɛn we wi fɔ mɛmba

Okay, so lɛ wi rikap sɔm pan di impɔtant tin dɛn fɔ mɛmba bɔt di PHTS we wi bin tɔk bɔt:

• PHTS na wan kכndyushכn we de kכz bay wan mכtεshכn insay wan jin we dεn kכl `PTEN`. Dis jin de ɛp fɔ kɔntrol di we aw wi sɛl dɛn de gro.
• dis kכndyushכn kin mek l כmp dεm we nכ gεt kεnsar (hεmatomas) εn כda tin dεm we de gro fכm na difrεn pat dεm na di bכdi.
• Pipul dɛn we gɛt PHTS, mɔ di wan dɛn we gɛt Cowden syndrome, kin gɛt mɔ risk fɔ gɛt sɔm kayn kansa (lɛk bɔdi, tayroyd, kidni, uterin, ɛn kɔlon kansa).
• Dis na kɔndishɔn we pɔsin kin gɛt frɔm dɛn mama ɛn papa . If yu gɛt am, yu pikin dɛn gɛt 50% chans fɔ gɛt am.
• PHTS nɔ kin ebul fɔ wɛl ɔl naw. Bɔt dɛn kin kɔntrol di sayn dɛm ɛn dɛn kin kɔntrol di risk fɔ gɛt kansa.
• If yu de chɛk yu kansa ɔltɛm, dat kin sev yu layf, bikɔs i go mɔs bi se dɛn go trit kansa ɛn wɛl if dɛn no am kwik kwik wan.
• If yu ɔ sɔmbɔdi na yu famili gɛt dɛn sik ya, mek shɔ se yu go to dɔktɔ. Jɛnɛtik tɛst ɛn di rayt mɛdikal monitarin rili impɔtant.

Nɔ panik, bɔt di tin we impɔtant pas ɔl na fɔ tɛl yu. If yu gɛt ɛni ɔda kwɛstyɔn, nɔ shem fɔ tɔk to yu dɔktɔ.

` PTEN, Hεmatoma, Tכmכr, Sεndrכm, Jin Mכtεshכn, Kεnsar, Kawden Sεndrכm, BRRS