Ua lohe anei ʻoe i kahi ʻano hoʻoilina o ka maʻi ʻōpū? (Hereditary Diffuse Gastric Cancer - HDGC) E kamaʻilio kākou e pili ana i kēia!

I kēia lā, e kamaʻilio mākou e pili ana i kahi maʻi koʻikoʻi i ʻike ʻole ʻia e ka poʻe he nui. He ʻano maʻi ʻōpū kēia i hoʻoilina ʻia. Ua kapa ʻia e nā kauka ʻo ia he `(Hereditary Diffuse Gastric Cancer)` a i ʻole `(HDGC)` no ka pōkole. Inā ua loaʻa i kekahi o kou ʻohana kēia maʻi, a inā makemake ʻoe e ʻike hou aku e pili ana i ia mea, he mea nui loa kēia ʻatikala iā ʻoe. Mai hopohopo, e kamaʻilio maʻalahi kākou e pili ana.

He aha kēia `(HDGC)`?

I ka ʻōlelo maʻalahi, he maʻi kanesa hoʻoilina ka HDGC. ʻO ke ʻano kēia, ua hoʻonui ʻia kou pilikia o ka loaʻa ʻana o ka maʻi kanesa ʻōpū (Gastric cancer) ma kahi o 70%. ʻAʻole wale ia, ʻo nā wahine i hoʻoilina i kēia maʻi he 42% ka piʻi ʻana o ka pilikia o ka loaʻa ʻana o kahi ʻano maʻi kanesa umauma , ʻo Lobular Breast Cancer (LBC) .

Hoʻoilina ka poʻe me kēia maʻi `(HDGC)` i kahi gene i hoʻololi ʻia (`(gene i hoʻololi ʻia)`) mai kekahi o ko lākou mau mākua. ʻO ka hapa pinepine, he gene kēia i kapa ʻia ʻo `(CDH1)` . Akā i kekahi manawa hiki ke komo pū nā gene ʻē aʻe. ʻO `(CDH1)` kahi gene hoʻopau tumor (`(gene hoʻopau tumor)`). Ke hoʻololi ʻia kēia, ʻaʻole ia e hana pono e kāohi i ka maʻi kanesa. E noʻonoʻo, ua like kēia gene me kahi mākaʻi i loko o ko mākou kino e kāohi ana i nā hunaola kanesa mai ka ulu ʻana. No laila he aha ka mea e hana inā nāwaliwali kēlā mākaʻi? ʻO ia ka mea e hana nei ma ʻaneʻi.

He aha ke ʻano o ka maʻi ʻōpū "diffuse"?

I kēia manawa, e nānā kākou i ke ʻano o kēia `(Diffuse Gastric Cancer)`. He ʻano maʻi ʻōpū kēia. Akā, ma kahi o ka ulu ʻana ma kahi hoʻokahi e like me nā maʻi ʻē aʻe, pālahalaha kēia ma loko o ka paia o ka ʻōpū ma nā puʻupuʻu liʻiliʻi o nā keena. Ua like ia me ka wai e kahe ana ma ka paia. Ma muli o kēia, mānoanoa a paʻakikī ka paia o ka ʻōpū. Mālie, pālahalaha ia i nā papa hohonu o ka paia o ka ʻōpū.

He mea paʻakikī iki ke ʻike ʻia kēia ʻano maʻi ʻōpū no ka mea ʻaʻole ʻike maopopo ʻia ma nā hoʻokolohua kiʻi maʻamau. Eia kekahi, ʻike pinepine ʻia nā hōʻailona ma hope o ka laha ʻana o ka maʻi, ma nā pae hope. I kēlā manawa, ua laha paha ke kanesa (metastasized) ma o ka paia ʻōpū i nā ʻiʻo kokoke, e like me ke akepaʻa a i ʻole nā ​​iwi.

Pehea ka maʻamau o kēia ʻano?

Ma ke kamaʻilio ʻana e pili ana i ke kūlana `(HDGC)`, ua manaʻo ʻia he ʻelima a ʻumi paha kānaka mai loko mai o nā tausani he ʻumi e hiki ke hoʻoilina i kēia kūlana i ka wā hānau. Ma kahi o 20% o nā maʻi ʻaʻai ʻōpū āpau he ʻano `(diffuse)`. Ma kahi o 2% o kēlā mau maʻi ʻaʻai diffuse he mau `(HDGC)` hoʻoilina. ʻOiai ʻoi aku ka maʻamau o ka maʻi ʻaʻai ʻōpū ma nā ʻāina ʻAsia ma mua o nā ʻāina Komohana, ua hōʻike pinepine ʻia kēia kūlana `(HDGC)` ma nā ʻāina Komohana.

He aha nā hōʻailona o ke kūlana `(HDGC)`?

E like me kā mākou i ʻōlelo ai ma mua, ʻaʻole paha e ʻike ʻia nā hōʻailona o kēia ʻano maʻi ʻaʻai gastric diffuse a hiki i ka laha ʻana o ka maʻi (metastasized). No laila he mea nui e makaʻala i ka pilikia e hiki ke holo kēia ʻano maʻi i loko o nā ʻohana. I ka HDGC, ulu ka maʻi ʻaʻai i ka wā ʻōpiopio iki ma mua o nā maʻi ʻaʻai ʻē aʻe. ʻIke ʻia ka hapa nui o ka poʻe ma mua o 40 mau makahiki.

ʻO nā hōʻailona nui paha:

• ʻEha ʻōpū (ʻoi aku hoʻi ma ka ʻaoʻao hema o luna o ka ʻōpū)
• ʻŌpū pehu, flatulence
• Ka luaʻi a me ka luaʻi
• Makemake nui
• Ka emi ʻana o ke kaumaha
• Luhi nui, luhi
• Ka paʻakikī i ka ale ʻana i ka meaʻai
• Koko i loko o ka ʻōpala (`(Koko i loko o ka ʻōpala)`)
• Ke luaʻi ʻana i ke koko (`(Ke luaʻi ʻana i ke koko)`)
• Jaundice (melemele o nā maka a me ka ʻili)

I kekahi manawa, hiki i kahi kīnā hānau i kapa ʻia ʻo cleft lip a i ʻole cleft palate ke lilo i hōʻailona mua o kēia maʻi. ʻO kēia no ka mea hiki i kēia hoʻololi genetic ke kumu i kēia kīnā hānau. Eia nō naʻe, ʻo ka hapa nui o ka manawa, ʻaʻole pili ka cleft lip i ka HDGC. Eia nō naʻe, inā ua hānau ʻia ʻoe me ia ʻano kīnā hānau a ua loaʻa i kekahi o kou ʻohana kēia ʻano maʻi kanesa, kānalua iki paha ʻoe.

He aha ke kumu o ka hoʻokumu ʻia ʻana o kēia `(HDGC)`?

He maʻi hoʻoilina ka HDGC. Hana ʻia ia i ka wā e hoʻololi ai kahi mutation i loko o kekahi o nā genes tumor-suppressing a mākou i kamaʻilio ai ma mua i ka papahana i loko o kāu DNA. Hōʻike nā genes tumor-suppressing i nā cell e kāohi i ka mahele cell a me ka ulu ʻana. No laila, ke hana pono ʻole kēia mau genes, hiki ke ulu ka maʻi kanesa.

Ua hoʻoilina ʻoe i kēia gene mutated mai kou makuahine a i ʻole kou makuakāne. ʻO kahi mutation i hoʻoilina ʻia ma kēia ʻano ua kapa ʻia ʻo ia he germline mutation . Hoʻopilikia ia i ke code genetic o kāu mau cell reproductive.

Pehea i hoʻoilina ʻia ai kēia `(HDGC)`?

He ʻano maʻi autosomal dominant ka HDGC. ʻO ia hoʻi, hoʻokahi wale nō kope o ka gene mutated āu e pono ai e hoʻoilina i ka syndrome. Hiki ke hoʻoilina ʻia mai kou makuahine a i ʻole kou makuakāne. Inā loaʻa i kekahi o kou mau mākua ka mutation, he 50% ka manawa kūpono e hoʻoilina ai iā ʻoe a i ʻole kou mau kaikaina. E noʻonoʻo e like me ka manawa kūpono o kahi kālā e piʻi mai ana i luna o nā poʻo a i ʻole nā ​​huelo.

Loaʻa anei i nā kānaka a pau i hoʻoilina i ka hoʻololi ʻana o ka gene ka maʻi kanesa?

ʻAʻole. ʻO ka hoʻololi ʻana o ka genetic āu e hoʻoilina ai mai kou mau mākua e hoʻopilikia wale i hoʻokahi kope o ka gene hoʻopau maʻi kanesa i loko o kēlā me kēia cell. Akā, ʻelua kope o kēia gene i kēlā me kēia cell, hoʻokahi mai kou makuahine a hoʻokahi mai kou makuakāne. No laila, inā ʻaʻole ʻoe e hoʻoilina i ka mutation like mai nā mākua ʻelua, loaʻa iā ʻoe kahi kope o ka gene e hana maʻamau.

No ka ulu ʻana o ke kanesa, kahi mutation ʻelua (`(somatic mutation)`)Pono ia e kū i loko o nā ʻiʻo kahi e hoʻokumu ʻia ai ke kanesa (ʻo ia hoʻi, ka uhi o ka ʻōpū a i ʻole nā ​​​​lobules o ka umauma) i kou wā e ola ana. Hoʻopau pū kēia mutation lua i ke kope ʻē aʻe o ka gene. ʻO ia ka manawa e hoʻomaka ai ke kanesa e ulu.

He aha ke kumu o kēia mutation lua?

ʻO kaʻoiaʻiʻo, ʻaʻole mākou i ʻike i ke kumu pololei no kēia. Akā, hiki i nā kumu like ʻole ke pāʻani i kahi kuleana. Hoʻokani pinepine nā pilikia o ke kaiapuni i kahi kuleana i ka "hoʻoulu ʻana" i nā maʻi genetic. Hiki ke pili pū kekahi mau genes. ʻO kekahi mau ʻohana e lawe ana i ka gene HDGC he ʻoi aku ka nui o ka maʻi kanesa ma mua o nā mea ʻē aʻe.

ʻO kekahi mau mea pilikia o ke kaiapuni e kōkua ai i ka ulu ʻana o ka maʻi ʻōpū:

• Puhipaka
• Ka hoʻohana nui ʻana i ka waiʻona
• ʻAi nui ʻana i ka ʻiʻo ʻulaʻula (e like me ka pipi, hipa)
• (H. pylori) maʻi (he bacteria kēia e hoʻoulu ai i nā ʻōpū ʻōpū)

Pehea ke kaʻina hana hoʻāʻo no `(HDGC)`?

ʻOiai inā ʻaʻohe ou hōʻailona i kēia manawa, inā he kumu e manaʻo ai ua pilikia ʻoe (no ka laʻana, inā ua loaʻa i kekahi o kou ʻohana kēia ʻano maʻi kanesa, a inā paha ua loaʻa iā ʻoe kahi hoʻokolohua genetic i loaʻa kahi mutation i loko o ka gene `(CDH1)`), hiki i ke kauka ke kuhikuhi iā ʻoe no ka hoʻāʻo ʻana no `(HDGC)`.

E helu kāu kauka i kou pilikia ma muli o kou mōʻaukala ʻohana a/a i ʻole nā ​​hopena hoʻāʻo genetic. Hiki iā lākou ke nānā i nā mea mua o ke kanesa i loko o kou mau ʻiʻo. No ka laʻana, hiki iā lākou ke nānā i kahi kūlana i kapa ʻia ʻo Lobular Carcinoma In Situ (LCIS) i loko o nā ʻāpana umauma a i ʻole nā ​​​​​​pūlima-ʻano i loko o ka ʻōpū. He mau loli mua kēia e hiki ke lilo i kanesa.

Pehea e ʻike ʻia ai ka HDGC?

Inā loaʻa iā ʻoe nā hōʻailona o ka maʻi ʻōpū metastatic, e ʻimi kāu kauka i nā hōʻike o ke kanesa ma kou paia ʻōpū. E lawe lākou i nā laʻana ʻiʻo a nānā iā lākou ma lalo o kahi microscope. Inā loaʻa ka maʻi ʻōpū metastatic, a inā ua loaʻa i kekahi o kou ʻohana kēia ʻano kanesa, e ʻōlelo paha kāu kauka e hana ʻoe i ka hoʻāʻo genetic .

I kēia manawa, ua ʻike ʻia ma kahi o 40% o nā maʻi me HDGC he loaʻa kēia mutation CDH1. Hiki ke pili nā mutations ʻē aʻe, akā ʻo CDH1 ka mea nui a mākou i ʻike ai a hiki ke ʻike. Inā loaʻa iā ʻoe, he ala maopopo ia e ʻike ai i ka HDGC. Eia nō naʻe, inā he moʻolelo ʻohana kou o kēia ʻano maʻi ʻōpū diffuse, hiki ke ʻike ʻia ʻoe me HDGC ʻoiai inā ʻaʻohe ou mutation CDH1.

He aha nā hoʻokolohua e hoʻohana ʻia no ka ʻike ʻana i ka `(HDGC)`?

Hiki ke hana i kēia mau hoʻokolohua e ʻike ai i ka maʻi:

• Hoʻāʻo hoʻoilina:He hoʻāʻo koko kēia. Lawe ʻia kahi hāpana o kou koko a kālailai ʻia e ʻike inā he mau hoʻololi genetic e pili ana i nā maʻi genetic. Loaʻa i kekahi poʻe kēia hoʻāʻo no ka mea he moʻolelo ʻohana ko lākou o nā maʻi genetic. Loaʻa i kekahi poʻe kēia ʻano hoʻāʻo genetic no ka mea ʻaʻole lākou i ʻike i ka mōʻaukala olakino o ko lākou ʻohana, no kā lākou ʻike ponoʻī, a no ka mea ke hoʻolālā nei lākou e loaʻa nā keiki.
• ʻO ka endoscopy kiʻekiʻe (hoʻāʻo EGD): He hoʻāʻo kēia e nānā i loko o kou ʻāpana gastrointestinal kiʻekiʻe (ʻo ia hoʻi, esophagus, ʻōpū) a lawe i nā laʻana ʻiʻo. He mea nui kēia no ka ʻike ʻana i ka maʻi ʻōpū, ʻoiai kēia ʻano maʻi ʻōpū i laha. Hana kekahi gastroenterologist (he kauka loea i nā maʻi gastrointestinal) i kēia. Hoʻokomo ʻo ia i kahi paipu lōʻihi (he endoscope) me kahi kāmela liʻiliʻi ma o kou waha a i lalo i kou esophagus i loko o kou ʻōpū. Hiki ke lawe ʻia nā laʻana ʻiʻo ma o ka paipu. Eia naʻe, me kēia mau ʻano hana, hiki ke paʻakikī ke loaʻa ka maʻi ʻōpū metastatic. Ma muli o kona laha nui ʻana, ʻaʻole hiki i ke kauka ke ʻike a loaʻa paha i loko o nā laʻana ʻiʻo. No laila, pono i ke kauka e ʻimi nei i kēia ʻano maʻi ʻaʻai ke loaʻa ka hoʻomaʻamaʻa kūikawā a me ka ʻike.
• MRI Umauma: No ka mea, ʻaʻole ʻike ʻia ke kanesa o ka umauma lobular e ka mammogram maʻamau, paipai nā kauka i kahi MRI. Inā hōʻike ka MRI i kekahi mea ʻē, ua hōʻailona ʻia a lawe kekahi kauka ʻē aʻe i kahi hāpana ʻiʻo.
• Biopsy: Lawe ke kauka i kahi hāpana o ka ʻiʻo a hoʻouna aku i kahi keʻena hoʻokolohua e nānā ʻia ma lalo o kahi microscope. Hiki i kēia biopsy ke hōʻoia inā loaʻa nā hunaola kanesa i loko o ka hāpana ʻiʻo.

He aha ka mea e hana ʻia ma hope o ka ʻike ʻia ʻana he `(HDGC)`?

Inā loaʻa iā ʻoe ke kanesa, e kamaʻilio kāu kauka me ʻoe e pili ana i nā koho lapaʻau. ʻOiai inā ʻaʻole ʻoe i loaʻa i ke kanesa, inā loaʻa iā ʻoe kēia maʻi, e paipai paha kāu kauka i nā hoʻokolohua nānā maʻamau no ke kanesa, e like me ka mea i ʻōlelo ʻia ma luna. ʻO ke ʻoki pale ʻana kekahi koho hiki iā ʻoe ke kamaʻilio me kāu kauka.

Pehea e mālama ʻia ai ka maʻi ʻōpū metastatic?

ʻO ke ʻoki ʻana ka lāʻau lapaʻau mua no nā maʻi ʻaʻai hiki ke wehe ʻia me ke ʻoki ʻana. Inā loaʻa iā ʻoe ka HDGC, e ʻōlelo pinepine kāu kauka i kahi gastrectomy holoʻokoʻa . ʻO kēia no ka mea he kiʻekiʻe ka pilikia o ka HDGC e laha aku ma kahi mamao ma mua o ka loaʻa ʻana.

I loko o kahi gastrectomy holoʻokoʻa, wehe ke kauka ʻoki i kou ʻōpū holoʻokoʻa a hoʻopili pololei i ka hopena o kou esophagus i kou ʻōpū liʻiliʻi. Hiki ke ola me ka ʻōpū ʻole, akā aia kekahi mau hopena ʻaoʻao. Ma hope o ke ʻoki ʻana, loaʻa paha iā ʻoe nā lāʻau lapaʻau hou aʻe (nā lāʻau lapaʻau adjuvant) e like me ka radiation therapy a i ʻole chemotherapy.

No ka mea, ʻo nā wāhine me ka `(HDGC)` e pilikia ana hoʻi i ka loaʻa ʻana o ka maʻi ʻaʻai umauma lobular (`(LBC)`), pono lākou e makaʻala mau i nā hōʻailona o `(LBC)` i ka wā o ka mālama ʻana. Inā loaʻa iā ʻoe ka `(LBC)`, hoʻomaka ka mālama ʻana me ke ʻoki ʻana i ka maʻi ʻaʻai umauma. A laila hāʻawi ʻia nā lāʻau lapaʻau hou aku.

He aha ke kūlana ola e hiki mai ana me ke kūlana `(HDGC)`?

ʻO ke ola e ola ai, aia nō ia ma ka loaʻa ʻana a me ka mālama ʻana i ke kanesa i ka wā mua. ʻOiai me ka nānā mau ʻana, hiki ke paʻakikī kēia. Inā ʻike ʻia a mālama ʻia ke kanesa ʻōpū metastatic i ka wā mua, ʻoi aku ka nui o ke ola ʻelima makahiki ma mua o 90%. Eia nō naʻe, inā ʻike ʻia ma hope, ma hope o kona komo ʻana i loko o ka paia o ka ʻōpū, hāʻule ka helu i lalo o 30%.

ʻO ia ke kumu a mākou e ʻōlelo nei he mea nui ka ʻike i ka mōʻaukala ʻohana a e ʻimi i ka ʻōlelo aʻoaʻo lapaʻau inā ʻoe i ka pilikia.

Aia kekahi ala e pale aku ai i ka `(HDGC)`?

Inā loaʻa iā ʻoe ka mutation gene `(CDH1)` (kahi e pili ana me ka hoʻonui ʻia o ka pilikia o ka loaʻa ʻana o ka maʻi kanesa), aia kekahi mau hana pale hiki iā ʻoe ke hana. No ka poʻe me ka ʻole o kēia mutation gene kikoʻī, ʻaʻole i wehewehe pono ʻia nā pilikia a me nā ana. Hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i kāu mau pilikia pilikino a me nā koho.

ʻO ke ʻoki kino pale

Inā ua ʻike ʻia ʻoe me HDGC no ka liʻiliʻi he 20 mau makahiki a ʻaʻohe pilikia olakino koʻikoʻi ʻē aʻe, hiki i kāu kauka ke ʻōlelo aku i kahi prophylactic total gastrectomy . ʻOiai hiki i ka nalowale o ka ʻōpū ke loaʻa kekahi mau hopena i kāu ʻōnaehana hoʻoheheʻe, ʻoi aku ka maʻalahi o ka mālama ʻana i kēia mau hopena ʻaoʻao ma mua o ka mālama ʻana i ka maʻi ʻōpū holomua.

No ka poʻe i mākaukau ʻole e hana i kēia mau ʻanuʻu, hiki ke hoʻohana ʻia kahi ala "kali a nānā", ʻo ia hoʻi ka endoscopy ʻōpū o luna pinepine a me nā laʻana biopsy maʻamau. Eia nō naʻe, me ka nānā pono ʻana, ʻaʻole paha e ʻike mua ʻia ka HDGC (i ka wā e ʻoi aku ka maikaʻi o ka lāʻau lapaʻau).

Nā hopena ʻaoʻao o ka gastrectomy holoʻokoʻa:

• ʻO ka maʻi Dumping: Ke hele pololei ka meaʻai mai ka esophagus i loko o ka ʻōpū liʻiliʻi, hele ia ma o ka ʻōpū liʻiliʻi me ka wikiwiki ma mua o ka maʻamau. Hiki i kēia ke hana i nā loli nui i nā hormones i loko o ka ʻōnaehana digestive, e alakaʻi ana i nā hōʻailona e like me ka nausea, ka diarrhea, a me ke kō koko haʻahaʻa. Hiki ke kāohi ʻia kēia mau hōʻailona ma ka hoʻololi ʻana i kāu mau ʻano ʻai. E emi ana kēia mau hōʻailona i ka hala ʻana o ka manawa.
• ʻO ka malabsorption a me ka malnutrition: Ke wehe ʻia ka ʻōpū, nalowale ka ʻāpana o ka ʻōpū i loaʻa nā waikawa a me nā enzymes e kōkua i ka hoʻoheheʻe ʻana i ka meaʻai. Hiki i kēia ke pale i ka wāwahi pono ʻana o ka meaʻai a pale i ke kino mai ka omo ʻana i nā meaola. Hiki i kēia ke alakaʻi i ka malnutrition. Hiki ke kōkua ʻia kēia ma ka hoʻololi ʻana i kāu ʻai a me ka lawe ʻana i nā mea hoʻohui meaʻai.

ʻO ke aʻoaʻo genetic a me ka hoʻolālā ʻohana

No nā poʻe me ka hoʻololi ʻana o ka gene CDH1, hiki ke kōkua nui ke aʻo ʻana i nā genetics i ke kūkākūkā ʻana i ka hoʻolālā ʻohana. Hiki i kēia ke kōkua iā ʻoe e hoʻomaopopo i ka pilikia o kāu keiki e hoʻoilina i ke kūlana HDGC. Inā ʻoe e hoʻolālā ana e loaʻa nā keiki, ʻo kahi koho e hoʻokele ai i kēlā pilikia ʻo ia ka In Vitro Fertilization (IVF) koho .

I ka IVF, lawe ʻia nā hua a me nā sperm mai ka makuahine a me ka makuakāne a hoʻomomona ʻia i loko o kahi keʻena hoʻokolohua. Ma hope o ka ulu ʻana o nā embryos, hiki ke lawe ʻia hoʻokahi cell mai kēlā me kēia embryo a hoʻāʻo ʻia no ka mutation CDH1. Hiki i nā mākua ke koho i nā embryos i loaʻa ʻole ka mutation a hoʻokomo iā lākou i loko o ka ʻōpū o ka makuahine.

ʻO ka mea hope loa, he aha e hoʻomanaʻo ai

ʻO ka ʻike ʻana ua loaʻa iā ʻoe ka Hereditary Diffuse Gastric Cancer Syndrome (HDGC) hiki ke lilo i mea hoʻonāukiuki loa, a pono paha ʻoe e hana i nā hoʻoholo nui. Hiki i kēia ke hoʻopilikia iā ʻoe a me kou ʻohana. E hoʻolōʻihi i kou manawa e noʻonoʻo ai i nā mea me ka ʻole o ka hopohopo. E nīnau i nā nīnau he nui e like me kou makemake. Eia kāu hui lapaʻau e kōkua iā ʻoe e ʻike i ke ala maikaʻi loa e hoʻokele ai i kēia huakaʻi. E hoʻomanaʻo, ʻo ka ʻike ka hana mua. ʻAʻole ʻoe hoʻokahi.

HDGC , maʻi ʻaʻai hoʻoilina, maʻi ʻaʻai ʻōpū, gene CDH1, maʻi ʻaʻai ʻōpū, maʻi ʻaʻai umauma, hoʻāʻo genetic, endoscopy, gastrectomy, pale ʻana i ka maʻi ʻaʻai