Ke ʻike nei ʻoe i nā puʻupuʻu ʻē ma kou kino? ʻO PTEN Hamartoma Tumor Syndrome (PHTS) paha kēia!

Ua ʻike anei ʻoe i nā puʻupuʻu a i ʻole nā ​​puʻupuʻu ʻē ma kou kino a i ʻole kekahi o kou ʻohana? ʻO kekahi o lākou me he mea lā ʻaʻohe mea e hopohopo ai, akā i kekahi manawa hiki iā lākou ke lilo i mau hōʻailona o kahi maʻi. I kēia lā, e kamaʻilio mākou e pili ana i kekahi o kēlā mau kūlana āu e hopohopo ai.

He aha ka PTEN Hematoma Tumor Syndrome (PHTS)?

I ka ʻōlelo maʻalahi, ʻo ka PTEN Hamartoma Tumor Syndrome (PHTS) he hui o nā maʻi i hoʻokumu ʻia e kahi loli, a i ʻole mutation, i loko o kahi gene i kapa ʻia ʻo `PTEN` i loko o ko mākou kino. I kēia manawa ke nīnau nei paha ʻoe i ke ʻano o ka gene `PTEN`. E noʻonoʻo aia kekahi kanaka i loko o ko mākou kino e kāohi ana i ka ulu ʻana o nā cell, nāna e hana e like me ke kiaʻi. ʻO ia ke ʻano o kēia gene `PTEN`. He `gene suppressor tumor` kēia. ʻO kāna hana, ʻo ia ka hana ʻana i kahi `enzyme` e kāohi ana i kā mākou mau cell mai ka ulu ʻana me ka ʻole o ka hoʻomalu ʻana a me ka hoʻokumu ʻana i nā tumors.

No laila, i ka wā e loaʻa ai kahi mutation, a i ʻole kahi kīnā, i loko o kēia gene `PTEN`, ʻaʻole hana pono ka kaohi ʻana i ka ulu ʻana o nā cell. A laila hoʻomaka nā cell e ulu me ke kāohi ʻole ʻia, a hiki ke hana ʻia nā mea i kapa ʻia ʻo `hamartomas` . ʻO ka hamartoma kahi ulu ʻaʻole cancerous (`benign`) , ʻaʻole weliweli, e like me ka tumor. Inā loaʻa iā ʻoe ka PHTS, ua piʻi aʻe kou pilikia o ka hoʻomohala ʻana i kēia mau ʻano hematomas a me nā tumors ʻē aʻe ʻaʻole cancerous. Eia kekahi, i kekahi manawa aia kahi pilikia o nā tumors cancerous (`malignant`) , ʻo ia hoʻi ke kanesa.

He aha nā ʻano syndromes e hāʻule ana ma lalo o ka māhele PHTS?

ʻO kēia māhele ākea o PHTS e komo pū ana me ʻelua mau syndromes nui: ʻo Cowden syndrome a me Bannayan-Riley-Ruvalcaba syndrome (BRRS) . Ua manaʻo nā kauka i kēia mau mea ʻelua he mau kūlana kaʻawale, akā i kēia manawa ua pili lāua ʻelua i nā mutations i loko o ka gene PTEN, no laila ua hoʻohui ʻia lāua ma lalo o ka huaʻōlelo hoʻokahi, ʻo PHTS.

Ua like loa nā pilikia olakino e kū nei i kahi kanaka me PHTS, inā he Cowden syndrome a i ʻole BRRS. I kekahi manawa, hiki i kahi kanaka me PHTS ke ʻike i nā hōʻailona e pili ana i nā syndromes ʻelua i ko lākou ola.

• ʻO ka maʻi Cowden: ʻO kēia ka mea maʻamau i nā pākeke. Hiki i kēia poʻe ke hoʻomohala i nā puʻupuʻu benign a malignant. ʻIke pinepine ʻia kēia mau puʻupuʻu ma ka umauma, ka uterus, ka thyroid gland, ka ʻōpū gastrointestinal, ka ʻili, ke alelo, a me nā ʻāʻī.
• ʻO ka maʻi Bannayan-Riley-Ruvalcaba (BRRS): Hoʻopilikia nui kēia i nā keiki ʻōpio. Hiki i nā keiki me BRRS ke loaʻa nā ʻōpū ʻili a me nā māka hānau. Hiki iā lākou ke loaʻa nā lohi o ka ulu ʻana .

He aha nā hōʻailona o ka PHTS?

Hiki i ka PHTS ke hana i nā hematomas i loko o nā ʻiʻo like ʻole o kou kino. E ʻokoʻa nā hōʻailona kikoʻī āu e ʻike ai ma muli o ke ʻano o ka PHTS āu. Ma keʻano laulā, inā loaʻa iā ʻoe ka PHTS, hiki iā ʻoe ke ʻike i hoʻokahi a ʻoi aku paha o kēia mau hōʻailona:

Nā ʻōuli ʻili a me nā paila

• Nā ulu liʻiliʻi e like me ke kau ʻana mai ka ʻili (nā lepili ʻili a i ʻole nā ​​acrochordons) .
• Nā kiko ʻeleʻele a pālahalaha ma nā poho lima a me nā kapuwaʻi (palmoplantar keratoses ).
• Nā puʻupuʻu liʻiliʻi a laumania ma ka maka (trichilemmomas ).
• Nā puʻupuʻu ʻili, piʻi aʻe ( papillomas ).
• Nā puʻupuʻu momona ( lipomas ) e ulu ana ma lalo o ka ʻili.
• Nā puʻu paʻakikī e like me nā ʻāʻī i loko o ka waha (fibromas waha ).
• ʻO ka ulu ʻana o nā kīʻaha koko i ʻike ʻia ma ka ʻili ( hemangiomas a me nā hōʻailona hānau ).
• Nā freckles ma ke kino kāne ('freckles ma kou penis ').

Nā ʻano o nā puʻupuʻu ʻaʻole kanesa (`Benign`)

• Nā puʻupuʻu thyroid ( nā puʻupuʻu i loko o ke kelepa thyroid).
• Ka hoʻonui ʻia ʻana o ke kelepa thyroid me ka hoʻokumu ʻia ʻana o kekahi mau nodules (multinodular goiters ).
• Nā puʻupuʻu i loko o ka ʻōpū ( nā fibroids uterine ).
• ʻO nā fibroadenomas o ka umauma .
• Nā loli o nā ʻiʻo palupalu cystic i loko o nā umauma ( nā umauma fibrocystic ).
• Nā ulu liʻiliʻi e hana ana ma ka ʻaoʻao o luna o ke ala ʻai a me ka ʻōpū nui (colon polyps ).

Nā pilikia o ka lolo a me ka ulu ʻana

• Loaʻa ke poʻo i ʻoi aku ka nui ma mua o ka maʻamau (macrocephaly ).
• Loaʻa i ke poʻo i hoʻolōʻihi ʻia ( dolichocephaly ).
• Nā lohi o ka hoʻomohala ʻana .
• Ka maʻi ʻōpū autism (ka maʻi ʻōpū autism ).

He aha ke kumu o ka PHTS?

E like me kā mākou i kūkākūkā ai ma mua, ʻo ke kumu nui o ka PHTS he mutation, a i ʻole ka loli, i loko o ka gene `PTEN`. ʻO kēia gene `PTEN` ke kuleana no ka hoʻokuʻu ʻana i kahi `enzyme` e hōʻailona ana i nā cell e hoʻōki i ka māhele ʻana a hōʻailona pū kekahi i ka wā e make ai kahi cell (`apoptosis`). A laila hana kēia i kahi no nā cell hou a olakino.

I loko o ka PHTS, ʻaʻole hana pono ka gene PTEN. ʻO ka hopena, hiki i nā cell ke hoʻomau i ka māhele ʻana a ulu me ke kāohi ʻole ʻia. I ka hopena, hiki i kēia mau cell ke ulu pū e hana i nā tumors. ʻOiai he maʻamau kēia mau tumors he benign, i kekahi manawa hiki iā lākou ke lilo i cancerous.

He maʻi hoʻoilina ka PHTS i hoʻoili ʻia mai nā hanauna.ʻO ia hoʻi, hiki i nā keiki ke hoʻoilina i kēia gene mutated mai ko lākou mau mākua mai.

Pehea i loaʻa ai ka PHTS mai ka moʻokūʻauhau mai?

Hoʻoilina ʻoe iā PHTS ma ke ʻano "autosomal dominant" . Maopopo iā ʻoe ke ʻano o ia mea? Loaʻa iā kākou āpau ʻelua kope o ka gene "PTEN" i loko o ko kākou kino. Hoʻokahi mai ko kākou makuahine, hoʻokahi mai ko kākou makuakāne. I ke ʻano o PHTS, hoʻoilina ʻoe i hoʻokahi kope olakino o ka gene "PTEN" a hoʻokahi kope i "muted". ʻOiai inā hoʻokahi kope olakino kāu, ʻo ka gene "PTEN" i muted ke kumu o nā pilikia e pili ana me PHTS. ʻO ke ʻano kēia, inā hoʻokahi wale nō o nā mākua i loaʻa ka gene muted, aia he 50% ka manawa e hoʻoilina ai kā lākou keiki.

I kekahi manawa, ʻaʻole ʻoe e hoʻoilina i ka gene PTEN i hoʻololi ʻia mai kou mau mākua. Akā, hiki i ka mutation ke ulu ma mua o kou hānau ʻana, ma ke ʻano he embryo a i ʻole fetus paha .

ʻAʻohe mea pehea ʻoe e loaʻa ai kēia mutation, inā loaʻa iā ʻoe, he 50% ka manawa e loaʻa ai i kāu keiki kēlā kope gene mutated.

He aha ka pilikia o ka maʻi kanesa e pili ana me ka PHTS?

Inā loaʻa iā ʻoe ka maʻi Cowden, ʻoi aku ka nui o kou pilikia o ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa ma mua o ka heluna kanaka maʻamau. No laila, pono ʻoe e hana i ka nānā ʻana i ke kanesa i kou ola a pau e mālama i kēia pilikia. ʻOiai ʻaʻole hiki i kēia mau hoʻokolohua ke pale aku i ka ulu ʻana o ke kanesa, inā ʻike mua ʻia, hiki ke hoʻomaka koke ʻia ka lāʻau lapaʻau a hiki ke ʻoi aku ka maikaʻi o nā hopena.

ʻO nā ʻano maʻi kanesa āu e ʻoi aku ka pilikia no:

• Ka maʻi ʻaʻai umauma
• Ka maʻi ʻaʻai thyroid
• Ka maʻi ʻaʻai puʻupaʻa
• Ka maʻi ʻōpū
• Ka maʻi ʻaʻai colorectal
• ʻO Melanoma, kahi maʻi ʻili

Ke hoʻomau ʻia nei ka noiʻi hou ʻana i ka pilikia o ka maʻi kanesa e pili ana me BRRS.

Pehea e ʻike ʻia ai ka PHTS?

E hoʻoholo kāu kauka inā loaʻa iā ʻoe ka PHTS inā loaʻa iā lākou kahi mutation i loko o ka gene PTEN. Pono ʻoe e hana i ka hoʻāʻo genetic e ʻike inā loaʻa iā ʻoe kēia mutation. Hana pinepine ʻia kēia ma o ka hoʻāʻo koko .

Aia nā alakaʻi hoʻāʻo genetic no ka ʻike ʻana i ka maʻi Cowden (no ka laʻana, mai ka National Comprehensive Cancer Network a me ka Cleveland Clinic). Hoʻopou hou ʻia kēia mau alakaʻi ma muli o ka noiʻi hou. Ua hoʻokumu pū ka International Cowden Consortium i nā pae hoʻohālikelike no ka ʻike ʻana i ka maʻi Cowden. Na kāu kauka e hoʻoholo inā pono ʻoe i kēia hoʻāʻo ma muli o kāu mau hōʻailona, ​​​​ka mōʻaukala ʻohana o nā puʻupuʻu, a inā he mutation PTEN kāu.

ʻOiai ʻaʻohe alakaʻi maʻamau no ka nānā ʻana i ka BRRS, hiki i kāu kauka ke ʻōlelo i nā hoʻokolohua like me nā mea i hoʻohana ʻia no ka nānā ʻana i ka maʻi Cowden.

ʻO ka mea nui loa, inā ua hōʻoia ʻia ua loaʻa iā ʻoe kēia mutation, he mea nui loa ia e loaʻa pū i nā lālā ʻē aʻe o kou ʻohana kēia hoʻokolohua.

Hiki ke ho'ōla loa ʻia ka PHTS?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no PHTS i kēia manawa. Eia nō naʻe, ke hoʻomau nei nā kānaka ʻepekema i ka noiʻi ʻana i nā lāʻau lapaʻau e hana maikaʻi loa no nā maʻi kanesa me ka hoʻololi ʻana o PTEN.

Pehea e mālama ʻia ai a hoʻokele ʻia ai ka PHTS?

Inā loaʻa iā ʻoe ka PHTS, loaʻa paha iā ʻoe kahi hui o nā kauka e mālama ana i kou olakino. E kōkua lākou iā ʻoe e hoʻokele i nā mea āpau mai kāu mau hōʻailona a hiki i nā ulu ʻana maʻamau ʻole a hiki i ka lohi o ka ulu ʻana. E loiloi pū lākou i kou pilikia maʻi kanesa a hoʻoholo i ka pinepine o kāu hana ʻana i nā hoʻokolohua maʻi kanesa.

Nā ʻano lapaʻau

ʻOiai ʻaʻohe alakaʻi kikoʻī no ka mālama ʻana i nā puʻupuʻu, maʻi kanesa a ʻaʻole maʻi kanesa paha, me kahi hoʻololi PTEN, e hilinaʻi ka lāʻau lapaʻau i kāu mau hōʻailona. Hiki i kēia mau lāʻau lapaʻau ke komo pū me:

• ʻO ke ʻoki kino: Ka wehe ʻana i nā ʻiʻo ʻē. Ma mua o ke ʻoki kino, hiki i ke kauka ke lawe i kahi laʻana o ka ʻiʻo e nānā i nā hunaola kanesa ( he biopsy ).
• Cryotherapy: Ka hoʻohana ʻana i ke anu nui e luku ai i nā ʻiʻo ʻē.
• ʻO ka ablation Laser: ʻO ka hoʻohana ʻana i ka wela kiʻekiʻe e luku ai i nā ʻiʻo ʻē.
• Nā kirīmi topical lāʻau lapaʻau: Nā kirīmi kūikawā i hoʻolālā ʻia e hoʻopau i nā ʻōpū ʻili.

Nā hoʻokolohua no ka maʻi kanesa

Inā loaʻa iā ʻoe ka maʻi Cowden, pono ʻoe e nānā mau ʻia no ke ola holoʻokoʻa e nānā i nā ulu ʻana o nā maʻi ʻaʻole maʻi kanesa a me nā maʻi kanesa. ʻO ke ʻano kēia, inā loaʻa kekahi pilikia, hiki ke hopu ʻia i ka wā hikiwawe loa, i ka manawa kūpono loa e mālama ai iā lākou. ʻOiai ʻaʻohe alakaʻi maʻamau no ka nānā ʻana i nā poʻe me BRRS, hiki i kāu kauka ke ʻōlelo i nā hoʻokolohua e like me nā mea i hana ʻia no ka maʻi Cowden.

Hiki i kēia mau ʻano hoʻāʻo ke komo pū me kēia mau mea, i hana pinepine ʻia:

• Mammograms: He hoʻāʻo e hoʻohana ana i nā kukuna X-haʻahaʻa haʻahaʻa e kiʻi i nā kiʻi o nā ʻiʻo umauma.
• MRI o ka umauma: He hoʻāʻo e hoʻohana ana i kahi magnet nui a me nā nalu lekiō e kiʻi i nā kiʻi o nā ʻiʻo o ka umauma.
• Ultrasounds: He hoʻāʻo e hoʻohana ana i nā nalu kani e kiʻi i nā kiʻi o nā ʻiʻo umauma.
• ʻO Colonoscopies: He hoʻāʻo e nānā i loko o ka ʻōpū nui me ka hoʻohana ʻana i kahi ʻōmole i lako me ke kāmela (scope). Hiki ke hoʻohana ʻia kēia ʻōmole e wehe i nā polyps. Hiki i kēia ke hoʻōki i nā ulu ʻana ma mua o ko lākou lilo ʻana i maʻi kanesa.
• ʻEndoscopy (ʻEndoscopies):He hoʻokolohua kahi e hoʻokomo ʻia ai kahi ʻōmole (scope) me kahi kāmela i hoʻopili ʻia e nānā i ka esophagus, ka ʻōpū, a me ka ʻaoʻao o luna o ka ʻōpū liʻiliʻi (duodenum).

Ma muli o nā hopena o ka hoʻokolohua, pono paha kahi biopsy e hōʻoia inā loaʻa i nā ʻiʻo ʻē nā hunaola kanesa.

Hiki ke pale ʻia ka PHTS?

ʻAʻohe ala e pale aku ai i ka PHTS. Eia nō naʻe, hiki i ka nānā ʻana i ke kanesa maʻamau ke kōkua i ka ʻike ʻana i ke kanesa i ka wā mua, i ka wā hiki ke mālama ʻia. No laila, he mea nui e hana i kēia mau nānā ʻana e like me ke kuhikuhi a kāu kauka.

He aha ke ʻano o ka wā e hiki mai ana e hiki i kekahi me PHTS ke manaʻo?

Aia kou wā e hiki mai ana ma luna o nā kumu he nui, me kou mau hōʻailona a me ke olakino holoʻokoʻa. Inā loaʻa iā ʻoe ka maʻi PHTS/Cowden, loaʻa iā ʻoe kahi pilikia nui o ka loaʻa ʻana o kekahi mau ʻano maʻi kanesa. ʻO ia ke kumu he mea nui ka nānā ʻana i ka maʻi kanesa. ʻO ka hopu ʻana a me ka mālama ʻana i ka maʻi kanesa i ka wā mua ke ala maikaʻi loa e hoʻomaikaʻi ai i kou manawa e hoʻōla ai (prognosis).

Āhea wau e ʻike ai i ke kauka?

E hahai i nā ʻōlelo a kāu kauka e pili ana i ka pinepine o kou nānā ʻia ʻana no ka maʻi kanesa. He mea nui hoʻi e ʻike i nā hōʻailona hōʻike o ka maʻi kanesa. E nīnau i kāu kauka i nā hōʻailona āu e pono ai e makaʻala.

ʻO ka ʻike ʻana ua loaʻa iā ʻoe a i ʻole kāu keiki kahi maʻi e like me PHTS hiki ke lilo i mea paʻakikī loa. He ʻano ia e pono ai ka nānā mau ʻana. Hiki ke hoʻoluhi i nā poʻe he nui. Eia nō naʻe, hiki i ka nānā pono ʻana ke hele lōʻihi i ka hoʻopakele ʻana a i ʻole ka hoʻolōʻihi ʻana i kou ola inā loaʻa iā ʻoe ka maʻi kanesa. Inā ua ʻike ʻia ʻoe me PHTS, e aʻo e pili ana i kou mau pilikia olakino, pehea e nānā ai kāu hui lapaʻau i kou olakino, a pehea e hiki ai i kāu hoʻolālā lapaʻau ke hoʻomaikaʻi i kou olakino lōʻihi.

Pehea e hoʻoulu ai ka gene PTEN i ka maʻi kanesa?

E like me kā mākou i kūkākūkā ai ma mua, hiki i kahi mutation i loko o ka gene PTEN ke hoʻoulu i nā cell e ulu me ke kāohi ʻole a hana i nā tumors. ʻOiai ʻo PHTS ka mea maʻamau e pili pū me nā tumors non-cancerous i kapa ʻia he hematomas, hiki i kēia ulu cell i kāohi ʻole ʻia ke alakaʻi i nā tumors cancerous. Hoʻokumu ʻia nā ʻano tumors ʻelua e nā cell e māhele wikiwiki ana. ʻOiai ua kūloko nā tumors non-cancerous, hiki i nā tumors cancerous ke pālahalaha ma ke kino holoʻokoʻa (metastasize) . Ke hana lākou, hōʻino nā cell cancerous i nā ʻiʻo olakino.

Nā mea pōkole e hoʻomanaʻo ai

ʻAe, e hōʻuluʻulu kākou i kekahi o nā mea nui e hoʻomanaʻo e pili ana i ka PHTS a mākou i kamaʻilio ai:

• He kūlana ka PHTS i hoʻokumu ʻia e kahi mutation i loko o kahi gene i kapa ʻia ʻo `PTEN`. Kōkua kēia gene i ka hoʻomalu ʻana i ka ulu ʻana o kā mākou mau cell.
• Hiki i kēia kūlana ke hana i nā puʻupuʻu ʻaʻole maʻi kanesa (hematomas) a me nā ulu ʻē aʻe e hana ʻia ma nā ʻāpana like ʻole o ke kino.
• ʻO ka poʻe me PHTS, ʻoi aku hoʻi ka poʻe me ka maʻi Cowden, aia i ka nui o ka pilikia o ka hoʻomohala ʻana i kekahi mau ʻano maʻi kanesa (e like me ka umauma, ka thyroid, ka puʻupaʻa, ka uterine, a me ke kanesa colon).
• He kūlana kēia e hiki ke hoʻoilina . Inā loaʻa iā ʻoe, he 50% ka manawa kūpono o kāu mau keiki e hoʻoilina ai.
• ʻAʻole hiki ke ho'ōla piha ʻia ka PHTS i kēia manawa. Eia nō naʻe, hiki ke kāohi ʻia nā hōʻailona a hiki ke mālama ʻia ka pilikia o ka maʻi kanesa.
• Hiki i nā hoʻāʻo maʻamau no ke kanesa ke hoʻōla i ke ola, no ka mea, ʻoi aku ka nui o ka mālama ʻia ʻana a me ka hoʻōla ʻia ʻana o ke kanesa inā ʻike mua ʻia.
• Inā loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana kēia mau hōʻailona, ​​e ʻimi pono i ke aʻo lapaʻau. He mea nui loa ka hoʻāʻo ʻana i ka genetic a me ka nānā pono ʻana i ke olakino.

Mai hopohopo, akā ʻo ka mea nui loa, ʻo ia ka ʻike. Inā he mau nīnau hou aku kāu, mai kānalua e kamaʻilio me kāu kauka.

PTEN , Hematoma, Puʻupuʻu, Syndrome, Hoʻololi ʻana o nā Gene, Kanesa, Cowden Syndrome, BRRS