Ke loaʻa nei iā ʻoe nā puʻupuʻu ʻē ma kou ʻili? Hiki paha i kēia ke Muir-Torre Syndrome?

Ua hoʻomaka koke anei ʻoe e hoʻomohala i nā puʻupuʻu liʻiliʻi ma kou ʻili? Manaʻo paha ʻoe he mea maʻamau kēia. Eia nō naʻe, i kekahi manawa hiki ke pili pū kēia mau loli ʻili me nā pilikia kūloko. I kēia lā e kamaʻilio mākou e pili ana i kahi maʻi kakaʻikahi akā koʻikoʻi loa e makaʻala. Ua kapa ʻia ʻo Muir-Torre Syndrome.

He aha ka Muir-Torre Syndrome? I ka pōkole...

He maʻi hoʻoilina laha ʻole ka Muir-Torre Syndrome e hoʻonui ai i kou pilikia o ka loaʻa ʻana o nā ʻano maʻi kanesa like ʻole i kou wā e ola ana. ʻO ka poʻe me kēia maʻi e hoʻomohala pinepine i nā puʻupuʻu ʻili, he kanesa a he benign paha (ʻo ia hoʻi, benign) i loko o ko lākou ʻili. Hiki iā lākou ke hoʻomohala i hoʻokahi a ʻoi aku paha nā maʻi kanesa i loko o ke kino, ʻoi aku hoʻi ma ka ʻōpū gastrointestinal .

E noʻonoʻo e pili ana i ia mea, ua hana ʻia ko kākou kino me nā miliona o nā pūnaewele liʻiliʻi. Ke māhele ʻia kēia mau pūnaewele, i kekahi manawa hiki ke hana ʻia nā loli liʻiliʻi (nā hoʻololi ʻana) i loko o nā genes. ʻO ia ke kumu o kēia loli genetic.

No laila, ua like anei ka Muir-Torre Syndrome me ka Lynch Syndrome?

ʻO ka hapa nui o ka manawa, ʻae. Ua manaʻo ʻia ka maʻi Moore-Torre he ʻano like ʻole o ka maʻi Lynch . ʻO ka maʻi Lynch kekahi ʻano e hoʻonui ai i ka pilikia o ka maʻi kanesa ma muli o kekahi mau loli genetic. I kekahi manawa kapa pū nā kauka iā ia he Hereditary Non-Polyposis Colorectal Cancer (HNPCC). ʻO ke ʻano kēia e ulu ana ka maʻi kanesa i loko o ka colon me ka ʻole o nā polyps. No laila, ʻo Moore-Torre kahi ʻāpana o ka maʻi Lynch e hōʻike ana i nā ʻano ʻili kūikawā.

Pehea ka maʻamau o kēia kūlana? Pono anei mākou e hopohopo e pili ana i kēia ma Sri Lanka?

He maʻi laha ʻole ka maʻi Moore-Torre. Ma kahi o 200 mau hihia wale nō i hōʻike ʻia ma ka honua holoʻokoʻa. Eia naʻe, ʻaʻole kēia manaʻo ʻaʻole pono mākou e ʻike. Ma kahi o 9.2% o ka poʻe me ka `HNPCC` e hōʻike paha i kēia mau hiʻohiʻona Moore-Torre. Me he mea lā e hoʻopilikia iki ana i nā kāne ma mua o nā wahine (ʻo ia hoʻi, ma kahi o 2 wahine no kēlā me kēia 3 kāne). ʻOiai ʻaʻohe helu kikoʻī e pili ana i ka nui o ka poʻe ma Sri Lanka, he mea nui e ʻike i kēlā mau kūlana.

He aha nā hōʻailona o ka Moore-Torre syndrome? Pehea mākou e ʻike ai?

ʻO ke kumu nui o kēia ma muli o ke ʻano o nā puʻupuʻu a i ʻole nā ​​​​loli ma ka ʻili a me nā hōʻailona o nā maʻi ʻaʻai kūloko . I kekahi manawa hiki ke loaʻa nā pilikia ʻili ma mua, i ka manawa like, a ma hope paha o ka ulu ʻana o nā maʻi ʻaʻai kūloko. Eia nō naʻe, ʻo nā loli ʻili ka hōʻailona mua e ʻike ʻia . ʻAʻole paha e hōʻike nā maʻi ʻaʻai ʻē aʻe i kekahi mau hōʻailona i nā pae mua.

He aha nā loli e ʻike ʻia ma ka ʻili?

Hiki ke ʻike ʻia kēia mau mea ma ka ʻili o kekahi kanaka me ka Moore-Torre syndrome:

• ʻO nā adenomas sebaceous: ʻO kēia nā pilikia ʻili maʻamau (80% - 99%). He mau puʻupuʻu ʻaʻole kanesa (benign) kēia. Hoʻomohala lākou i loko o nā kelepa sebaceous, ʻo ia nā kelepa ʻaila i loko o ko mākou ʻili. Loaʻa pinepine lākou ma ke poʻo a me ka ʻāʻī, a i nā poʻe me ka maʻi Moore-Torre, ʻoi aku ka maʻamau ma ka umauma, ka ʻōpū, nā pūhaka, a me ke kua . Ua like lākou me nā puʻupuʻu liʻiliʻi, paʻakikī, melemele a i ʻole nā ​​​​​​pūʻupuʻu kala ʻili .
• ʻO ka carcinoma sebaceous: He puʻupuʻu kanesa (ʻino) kēia e ulu ana i loko o nā kelepa sebaceous. Hiki ke like me ka adenoma sebaceous. Akā, pālahalaha koke ia, ʻoiai a puni nā lihilihi maka . Hiki i kēia mau puʻupuʻu ke kahe koko a hoʻokahe paha i kahi mea ʻōpala.
• ʻO Keratoacanthoma: He ʻano ʻē aʻe kēia o ka puʻupuʻu ʻili. Hiki iā ia ke ulu ma ke poʻo, ka ʻāʻī, ke kino, a me nā lima kokoke i nā follicle lauoho. Hiki ke maʻi kanesa a ʻaʻole paha . Ua like ia me kahi puʻupuʻu liʻiliʻi, poepoe, i kekahi manawa me nā kīʻaha koko i ʻike ʻia ma luna, a me kahi puʻupuʻu keratin ma waenakonu . Ulu koke ia, ma kahi o 3 kenimika ka nui i loko o kekahi mau pule, a laila emi mālie i nā mahina a i ʻole nā ​​​​makahiki. Aia paha hoʻokahi a ʻoi aku paha.
• Nā kiko Fordyce: No ka mea, pili pinepine nā kelepa sebaceous i ka maʻi Moore-Torre, manaʻo kekahi mau kauka he hōʻailona kēia mau "kiko Fordyce". He mau kelepa sebaceous i hoʻokiʻekiʻe ʻia a hoʻonui iki ʻia kēia e ʻike ʻia ana ma nā wahi me ka lauoho ʻole, e like me a puni nā lehelehe . Ua hōʻike ʻia nā haʻawina he mea maʻamau lākou i ka maʻi Moore-Torre.

E hoʻomanaʻo, inā ʻike ʻoe i kahi puʻupuʻu hou a i ʻole kahi loli e like me kēia ma kou ʻili, ʻoiai inā e ulu wikiwiki ana, e loli ana ke kala, a e kahe ana ke koko, pono ʻoe e ʻike i ke kauka.

He aha nā maʻi kanesa e pili ana me ka Moore-Torre syndrome?

Hiki ke loaʻa nā ʻano maʻi kanesa like ʻole me kēia maʻi. ʻO nā maʻi kanesa maʻamau a me kā lākou mau hōʻailona:

• ʻO ke kanesa Colorectal: ʻO kēia ke ʻano maʻamau o ke kanesa . Hoʻopilikia ia i ka hapalua o nā kānaka āpau. Hoʻokumu ʻia ia e ka ulu ʻana o nā hunaola kanesa ma ka ʻili o ka colon a i ʻole ka rectum. I ka hoʻohālikelike ʻana, me Moore-Torre, hiki i kēia kanesa ke ulu i 15-20 mau makahiki ma mua o ka maʻamau, ma kahi o 50 mau makahiki. Hiki iā ia ke pālahalaha koke . ʻO nā hōʻailona e komo pū me ka ʻeha o ka ʻōpū, ka pehu ʻana, nā loli i nā ʻano o ka ʻōpū, a me ke koko i loko o ka ʻōpala .
• ʻO ke kanesa ʻōpū: He maʻi kanesa kēia i ʻike pinepine ʻia me Moore-Torre. Hiki i nā hōʻailona ke komo pū me ka ʻeha o ka ʻōpū, ka pehu ʻana, ke koko i loko o ka ʻōpala, ka paʻakikī i ka ʻeli ʻana i ka meaʻai, ka nausea, a me ka nalowale o ka makemake .
• Ka maʻi ʻaʻai o ka ʻōnaehana mimi:Ua kapa ʻia hoʻi ʻo `(Urothelial carcinoma)` a i ʻole `(transitional carcinoma)`. Hoʻopilikia kēia i ka uhi o ka ʻōnaehana urinary. Hiki iā ia ke hōʻeha i ka wā e mimi ai a me ke koko i loko o ka mimi .
• ʻO ke kanesa Endometrial: ʻO kēia ke kanesa e ulu ana i loko o ka endometrium, ka ʻili o loko o ka uterus . Hiki iā ia ke hōʻeha i ka ʻōpū ma lalo, ka ʻeha pelvic, a me ke kahe ʻana o ka vaginal a i ʻole ke kahe koko .

Eia kekahi, hiki ke pili pū kekahi mau ʻano maʻi kanesa me kēia maʻi, e like me:

• Ka maʻi ʻōpū
• Ka maʻi ʻaʻai prostate
• Ka maʻi ʻōpū
• Ka maʻi ʻaʻai puʻupaʻa
• Ka maʻi ʻōpū liʻiliʻi
• Ka maʻi ʻaʻai ate
• Ka maʻi ʻaʻai māmā
• Ka maʻi ʻaʻai koko
• Aia nā maʻi ʻaʻai lolo a me nā ʻano ʻē aʻe.

Me he mea lā he mea weliweli kēia papa inoa. Akā, ʻo ka mea nui, ʻaʻole e ulu kēia mau maʻi kanesa a pau i loko o nā kānaka a pau. A, inā ʻike mua ʻia, hiki ke mālama ʻia .

No ke aha e kū mai ai kēia maʻi Moore-Torre? He aha ke kumu?

I ka ʻōlelo maʻalahi, ua hoʻokumu ʻia ka maʻi Moore-Torrell e kahi mutation i loko o kekahi o kāu mau genes . ʻO nā mutation nā loli i ke kaʻina o kā mākou DNA. Kope ʻia kēia DNA i ka wā e māhelehele ai kā mākou mau cell a hana i nā cell hou. I kekahi manawa hiki ke hana hewa. Inā hoʻomau ka māhele ʻana o ia ʻano cell ʻano ʻē, hiki iā ia ke hana i nā maʻi like ʻole, me ke kanesa.

He aha nā ʻano loli genetic e hoʻopilikia ai i kēia?

ʻElua mau ʻano nui:

• ʻAno 1 Moore-Torre syndrome (ʻAno 1 MTS): Hoʻokumu ʻia kēia e kahi mutation i loko o kekahi o nā genes e hana hewa ana i kāu moʻo DNA . Ke hiki ʻole i kēia mau genes ke hoʻoponopono i nā hewa, hōʻiliʻili nā cell abnormal i loko o nā ʻiʻo. I ka 90% o nā hihia, ua hoʻopilikia ʻia ka gene i kapa ʻia ʻo MSH2. Eia nō naʻe, hiki ke pili kekahi mau genes ʻē aʻe, e like me MLH1, MSH6, a me PMS2.
• ʻAno 2 Moore-Torrell Syndrome (MTS): Hoʻokumu ʻia kēia e kahi mutation i loko o ka gene MUTYH. ʻO kēia gene ke kuleana no ka hoʻoponopono ʻana i ka pōʻino oxidative i kā mākou DNA. Ma kahi o hoʻokahi hapakolu o ka poʻe me MTS i loaʻa i kēia ʻano. Hoʻololi ka oxidation i ka molekala DNA, hiki ke alakaʻi i ka ulu ʻana o nā cell i kāohi ʻole ʻia (ʻo ia hoʻi, ke kanesa). Ke hiki ʻole i ka gene mutated ke hoʻoponopono i kēia pōʻino, hoʻomau ka pōʻino.

He mea kēia i loaʻa mai nā hanauna mai?

ʻO ka mea paha, ʻae, he hoʻoilina ia . Eia nō naʻe, i kekahi manawa hiki i ke kanaka ke hoʻomohala i kahi hoʻololi gene hou me ka ʻole o kekahi o ka ʻohana i loaʻa iā ia ma mua. Ma kahi o 60% o nā maʻi e hiki ke loaʻa kahi mōʻaukala ʻohana o ka Moore-Torre syndrome. Eia nō naʻe, no ka mea ʻaʻole nā ​​​​kānaka āpau me kēia hoʻololi gene e hoʻomohala i nā hōʻailona, ​​​​ʻaʻole maopopo mau kēia loulou ʻohana.

Loaʻa paha i kekahi poʻe kēia maʻi me ka ʻole o nā hōʻailona, ​​a ʻaʻole paha e ʻike. Eia kekahi, i kekahi manawa ke nāwaliwali ka ʻōnaehana pale, hiki ke hoʻāla ʻia kēia 'latent MTS'. Ua loaʻa i kekahi poʻe kēia maʻi ma hope o ka loaʻa ʻana o kahi 'solid organ transplant' a me ka lawe ʻana i nā lāʻau immunosuppressant.

Pehea e hoʻoili ʻia ai kēia ma o nā hanauna?

• ʻO ke ʻano 1 MTS he maʻi "autosomal dominant". ʻO ke ʻano kēia, hoʻokahi wale nō kope o ka gene i hoʻololi ʻia e pono ai ʻoe e hoʻoilina i ke ʻano. Inā loaʻa i kekahi o kou mau mākua kēia hoʻololi ʻana o ka gene, he 50% kou manawa e hoʻoilina pū ai. Eia nō naʻe, ʻokoʻa paha ke ʻano o kou hoʻomohala ʻana i nā hōʻailona mai ka makua āu i hoʻoilina ai i ka gene.
• ʻO ke ʻano 2 MTS he kūlana "autosomal recessive". ʻO ke ʻano kēia, i mea e hoʻoilina ai ʻoe i ka maʻi, pono i kou mau mākua ʻelua ke loaʻa ka hoʻololi like o ka gene. He mea kākaʻikahi loa kēia. Eia nō naʻe, ʻo nā mākua i loaʻa hoʻokahi kope o kēia gene "autosomal recessive" ʻaʻole paha lākou e loaʻa i kekahi mau hōʻailona, ​​no laila ʻaʻole paha lākou e ʻike he loaʻa iā lākou.

Pehea e ʻike ai nā kauka i ka Muir-Torre Syndrome?

Inā he mau puʻupuʻu ʻili kou e like me nā mea i ʻōlelo ʻia ma luna, ʻoi aku hoʻi ma kou kino, a inā paha ua ʻike ʻia i ka wā ʻōpiopio, hiki i ke kauka ke kānalua i ka Moore-Torrell syndrome. E nīnau pū ʻo ia iā ʻoe e pili ana i nā hōʻailona ʻē aʻe e hōʻike ana i ka maʻi ʻaʻai kūloko, a inā paha he moʻolelo o ka maʻi ʻaʻai kekahi o kou ʻohana.

He aha nā ʻano hoʻokolohua i hana ʻia no kēia?

Hiki i kāu kauka ke hana i kekahi mau hoʻokolohua mua ma mua o ka ʻōlelo ʻana i ka hoʻāʻo genetic. Eia kekahi laʻana:

• Immunohistochemistry (IHC): Lawe ʻia kahi hāpana liʻiliʻi o kahi puʻupuʻu ma kou ʻili, hoʻoluʻu ʻia me kahi kala kūikawā, a nānā ʻia ma lalo o kahi microscope e ʻike ai inā loaʻa i ka hāpana nā hoʻololi genetic kikoʻī.

Me nā hopena o kēia mau hoʻokolohua a me nā ʻike ʻē aʻe, hiki i kāu kauka ke ʻōlelo aku i ka hoʻāʻo ʻana i ka genetic e nānā i nā mutations i loko o nā genes e pili ana me ka Moore-Torre syndrome. A laila e lawe lākou i kahi hāpana o kou koko a nānā i nā mutations i loko o nā genes hoʻoponopono mismatch MSH2, MLH1, MSH6, PMS2, a i ʻole ke kumu excision repair gene MUTYH.

He aha ke ʻano o nā hoʻokolohua kanesa e pono ai i kekahi me Moore-Torre syndrome ke hana mau ʻia?

He mea nui loa i ka poʻe me kēia maʻi ke hana i nā hoʻokolohua maʻamau no ka maʻi kanesa , no ka mea, ʻo ka ʻike mua ʻana e hoʻonui i ka manawa kūpono o ka mālama ʻana. ʻO nā hoʻokolohua a nā kauka e ʻōlelo ai paha e komo pū me:

• Colonoscopy: Ka nānā ʻana i ka ʻōpū nui.
• ʻO ka endoscopy luna (EGD): Ka nānā ʻana i ka esophagus, ka ʻōpū, a me ka hapa mua o ka ʻōpū liʻiliʻi.
• Hoʻokolokolo prostate ( no nā kāne)
• ʻO ka mammogram:Ka nānā ʻana i ka maʻi ʻaʻai umauma (no nā wahine)
• Ka hoʻokolokolo ʻana o ka Pelvic ( no nā wahine)
• Pap smear: Nānā ʻana no ke kanesa o ka ʻāʻī (no nā wahine)
• ʻO ka cytology mimi: No nā maʻi ʻaʻai o ka ʻōnaehana mimi.
• Nā hoʻāʻo hana ate
• Helu koko piha (CBC)
• Hoʻokolohua kino
• Hoʻokolokolo ʻili
• X-ray umauma

Na kāu kauka e hoʻoholo i ka pinepine o kou pono ʻana e hana i kēia mau hoʻokolohua.

He aha nā lāʻau lapaʻau no ka Moore-Torre syndrome?

ʻO ke kumu nui o ka mālama ʻana i ka maʻi Moore-Torre ʻo ia ka ʻimi a me ka wehe ʻana i ke kanesa inā loaʻa . Pono ʻoe e hana i nā hoʻokolohua kanesa maʻamau a lawe i nā biopsies o kekahi ʻiʻo kānalua. Inā ʻike kāu kauka i ke kanesa, e mālama lākou iā ia e like me kona ʻano a me ke kahua. ʻO ke ʻoki ʻana e wehe i ke kanesa ka laina mua o ka lāʻau .

ʻO nā lāʻau lapaʻau ʻē aʻe e komo pū paha:

• Kemoterapia
• Hoʻōla radiation
• Hoʻōla lāʻau hormone
• Hoʻōla lāʻau pale
• Hoʻōla i kuhikuhi ʻia
• Hoʻoili iwi iwi

Eia kekahi, hiki i kahi retinoid waha i kapa ʻia ʻo isotretinoin ke kōkua i ka pale ʻana i nā ʻeha ʻili hou mai ka hoʻokumu ʻana. Inā loaʻa i kāu colonoscopy nā polyps colon he nui (nā mea i pilikia nui no ka loaʻa ʻana o ka maʻi kanesa), hiki i kāu kauka ke ʻōlelo aku i kahi colectomy prophylactic, ʻo ia hoʻi ka wehe ʻana i kahi hapa a i ʻole kou colon āpau.

He aha ka wānana no kekahi me ka Moore-Torre syndrome?

Aia kou wānana i ka nui o nā maʻi kanesa āu e ulu ai a me ka mamao o ko lākou laha ʻana. Hōʻike nā helu helu ma kahi o ka hapalua o ka poʻe me ka Moore-Torre syndrome e ulu ana ma mua o hoʻokahi maʻi kanesa. ʻOi aku ma mua o ka hapalua e ulu ana i ka maʻi kanesa metastatic (ka maʻi kanesa i pālahalaha i nā ʻāpana ʻē aʻe o ke kino a paʻakikī ke mālama).

ʻIke pinepine ʻia nā maʻi kanesa me ka Moore-Torre syndrome ma kahi o 50 mau makahiki . Hiki i kēia mau maʻi kanesa ke ulu a ʻoi aku ka ʻino ma mua o ka heluna kanaka maʻamau. No laila, he mea nui ka ʻike mua ʻana . Eia kekahi, aia kahi manawa kiʻekiʻe e hoʻi hou mai ai kahi maʻi kanesa ma hope o ka wehe ʻia ʻana. No laila, he mea nui nā nānā mau ʻana ma hope o ka mālama ʻana.

Aia kekahi ala e pale aku ai i kēia?

ʻAʻole maʻamau. ʻO kēia no ka mea he maʻi ia i hānau ʻia me ʻoe. Eia naʻe, ʻaʻole e loaʻa i nā kānaka a pau nā hōʻailona. ʻOiai ka poʻe i loaʻa nā hōʻailona, ​​​​hiki ke hoʻopilikia ʻia e ka maʻi ma mua o ko lākou mau mākua. ʻAʻole maopopo i nā kānaka ʻepekema ke kumu o kēia. Eia nō naʻe, ua ʻike ʻia hiki ke ʻoi aku ka ʻino o ke kūlana inā nāwaliwali ka ʻōnaehana pale .

ʻO ka ʻike ʻana he loaʻa iā ʻoe kēia hoʻololi ʻana o ka genetic e kōkua paha iā ʻoe e hana i kekahi mau hoʻoholo pale. No ka laʻana, hiki i ka hoʻāʻo ʻana i ka genetic a me ke aʻoaʻo ʻana i ka genetic ke kōkua iā ʻoe e pale i ka hoʻoili ʻana i ke ʻano i kāu mau keiki. Eia kekahi, ʻo ka ʻike ʻana i kēia hiki ke kōkua iā ʻoe e ʻike mua i ka maʻi kanesa a hoʻomaka i ka mālama ʻana, e pale ana i nā hopena maikaʻi ʻole.

ʻOiai he mea kakaikahi ka maʻi Moore-Torre, ʻaʻole maʻalahi ke kū i kahi hōʻailona e like me kēia. Hiki ke like me ka paʻakikī ke hakakā i kahi mea i hoʻokomo ʻia i loko o kā mākou DNA. Akā, ʻo ka ʻike ka mana . Me ka ʻike a me ka mālama ʻana i ka manawa kūpono, hiki iā ʻoe a me kāu kauka ke kū i kēia pilikia.

ʻO ka mea hope loa, leka lawe i ka home

ʻAe, e hōʻuluʻulu kākou i kekahi o nā mea e pono ai ʻoe e hoʻomanaʻo mai nā mea a mākou i kamaʻilio ai:

• ʻO ka Muir-Torre Syndrome kahi maʻi hoʻoilina e hoʻonui ai i ka pilikia o ka loaʻa ʻana o nā ʻōpū ʻili a me nā maʻi ʻaʻai kūloko (ʻoi aku hoʻi ma ke ala ʻai).
• Inā ʻike ʻoe i kahi puʻupuʻu hou a ʻano ʻē ma kou ʻili, ʻoi aku hoʻi ma kou kino, e ʻimi koke i ke kōkua lapaʻau. ʻAʻohe paha he mea ʻē, akā ʻoi aku ka maikaʻi o ka nānā ʻana.
• He ʻano like ʻole kēia o ka maʻi Lynch. Inā loaʻa i kekahi o kou ʻohana kahi moʻolelo o ka maʻi kanesa, e haʻi pū i kāu kauka e pili ana i ia mea.
• He mea nui loa ka ʻike mua ʻana a me nā hoʻāʻo mau ʻana. Hiki i kēia ke kōkua i ka ʻike mua ʻana i ka maʻi kanesa a mālama pono iā ia.
• Hiki i ka hoʻāʻo ʻana a me ke aʻo ʻana i ka genetic ke kōkua i ka hoʻoholo ʻana inā loaʻa kēia ʻano a inā paha e pili ana i nā ʻohana.
• Mai makaʻu, akā e makaʻala. ʻAʻole ʻoe hoʻokahi, a aia nā kauka ma laila e kōkua iā ʻoe.

Manaʻolana wau he mea pono kēia ʻike iā ʻoe. E ola kino!

ʻO ka maʻi Muir-Torre, Lynch Syndrome, Ka maʻi ʻili, nā maʻi genetic, Ka maʻi ʻōpū, Nānā ʻana i ke kanesa, Nā hoʻololi genetic