Li-Fraumeni Syndrome, ko LFS, wani yanayi ne wanda yake tunanin mutane da dama zuwa daban-daban. Mutanen da ke tare da LFS sukan cigaba da bunkasa wannan ciwon daji a baya a rayuwa fiye da abin da ke cikin al'ada. Akwai kuma ƙari mafi girma na na biyu ko ciwon cancers a LFS.
An fara gane ciwon daji a cikin iyalai da dama da suka samo asali daban-daban, musamman sarcomas, a farkon rayuwarsu.
Bugu da ƙari, 'yan uwan sun bayyana cewa zasu iya haifar da ƙwayoyin magunguna, sababbin cututtuka daban-daban a duk tsawon rayuwarsu. Frederick Li da Joseph Fraumeni, Jr, sun kasance likitoci ne da suka fara bayar da rahoto game da waɗannan binciken a 1969, wannan shine yadda LFS ta sami sunansa.
Me yasa Mafi Girma na Ciwon Cancers?
Mutanen da ke fama da cutar Li-Fraumeni suna da hatsarin ciwon daji saboda sun gaji abin da aka sani da maye gurbin kwayar cutar a cikin wani mahimmanci mai suna TP53.
Tsarin jigon kwayar halitta shine canzawar kwayar da ya faru a cikin layin mahaifa na iyayen mutum-wanda shine, maye gurbi da farko ya faru a cikin sel a cikin ovaries ko gwaji wanda ya haifar da kwai da maniyyi. Hanya a cikin wadannan kwayoyin halitta shine kawai nau'i na maye gurbi wanda za'a iya wucewa a kai tsaye ga zuriya a lokacin ɗaukar ciki lokacin da kwai da sperm suka hadu don su zama zygote. Sabili da haka, maye gurbin kwayar cutar zai shafi kowace kwayar halitta a cikin jikin 'ya'yan. Ya bambanta, maye gurɓatattun tasowa yana bunkasa wani wuri a mutum a wani lokaci bayan zane, ko yawa, da yawa daga baya, kuma suna shafar yawan kwayoyin halitta a jikin.
Maɓallin maɓallin ƙwayar cuta a cikin iyalai tare da LFS shine wadanda ke shafar aikin da TP53. A duniyar bincike kan ciwon daji, ƙwayar TP53 tana da mahimmanci cewa an kira shi "mai kula da kwayar halitta."
TP53 shine nau'i mai tsauraran tumo-wato, shi ne kwayar da ke kare kwayar halitta daga mataki daya akan hanyar zuwa ciwon daji.
Lokacin da wannan kwayar ta haifar da cewa ba ta aiki kamar yadda ake nufi, ko kuma saboda aikinsa ya ragu sosai, tantanin halitta zai iya cigaba da ciwon daji, sau da yawa a hade tare da sauran canji. An gwada gwaji na TP53 a cikin 1990 lokacin da aka tabbatar da haɗin tsakanin p53 da LFS. Tun daga wannan lokacin, an gano kusan 250 maye gurbi a ko'ina cikin jinsin TP53 .
Sauyawa a wani nau'i, hCHK2, an hade shi da LFS, duk da haka, muhimmancinsa ba shi da kyau. HCHK2 jinsin shine mummunan raƙuman ciwon daji wanda aka kunna a mayar da martani ga lalacewar DNA. Iyali ƙananan iyalai ne suke ɗaukar wannan maye gurbi, kuma wadanda ke da alamun suna da irin wannan nau'i na malignancies kamar waɗanda suke tare da maye gurbin TP53.
Yaya Haɗakar Haɗarin yake?
An kiyasta cewa, gaba ɗaya, mutumin da ke da LFS yana da damar kashi 50 cikin dari na bunkasa ciwon daji ta hanyar shekaru 40 da kuma kusan 90 bisa dari dama tun yana da shekaru 60. Idan kana da LFS, ƙwaƙwalwar kanka ta dogara ne a kan ɓangare ko kai namiji ne ko mace, tare da mata kullum suna da haɗari fiye da maza.
Idan kayi la'akari da hadarin ciwon daji na rayuwa a cikin maza da mata tare da LFS a shekaru 50, to, hadarin ci gaba da ciwon daji ya rushe kamar haka: 93 bisa dari na mata da kashi 68 cikin dari na maza.
Idan suka ci gaba da ciwon ciwon daji, mata ma sukan ci gaba da ciwon ciwon daji a shekarun da suka gabata: shekara 29, a matsakaici, kimanin shekaru 40 a cikin maza.
Babban haɗari ga mata shine yafi yawa saboda ciwon daji na farko, kamar yadda binciken Mai da abokan aiki suka yi. Wadannan masu bincike sun gano cewa, daga cikin matan da suka jarraba ga maye gurbin TP53, ciwon nono ya kasance mafi yawan rashin lafiya. Cikin wannan binciken, ciwon daji na ciwon yaron ya karu a yayin mace 20s, yana tabbatar da cewa ciwon daji na ciwon daji yana farawa a shekaru 20 yana da kyau a cikin mata tare da LFS.
Wannan matsala ga maye gurbin TP53 yana da kama da abin da aka gani a cikin mata tare da maye gurbin su a cikin BRCA1 da BRCA2-wadannan kwayoyin sun tashi sune sanannun sanannun rahotanni game da gwajin kwayoyin juyin halitta na BRCA1 / 2 da kuma magungunan rigakafi (by sunaye kamar Angelina Jolie).
Mene Ne Cutar Cutar Ciki?
Duk wani ciwon daji zai iya bunkasa a kowane mutum a kowane lokaci. Duk da haka, mutanen da ke tare da LFS suna san cewa suna da ciwon daji na farko da ke fama da ciwon daji da kuma ciwon rayuwa mai yawa na ciwon daji na "core", ciki har da waɗannan:
- Osteosarcoma- mafi yawan irin ciwon daji da ke farawa cikin kasusuwa
- Sarcomas mai sutura- irin nau'in ciwon daji wanda ke tasowa daga wasu kyallen takarda, kamar fat, tsoka, jijiyoyi, kyakoki na fibrous, jini, ko fatar jiki na fata
- Tashin farko na ciwon nono
- Ciwon ciwon zuciya
- Ciwon sankarar bargo -a ciwon daji na jikin jini
- Mamancin ciwon daji na ciwon ciki - wani ciwon daji na ƙwayar cuta, wanda shine matsakaicin matsakaici na glandon adrenal. Jirgin da ya dace ya kasance a saman kodan kuma yana taka muhimmiyar rawa a wasu ayyuka na hormonal.
A cikin binciken da Kleihues ya yi a 1997, sarcoma da aka fi sani da ita a cikin LFS ya kasance osteosarcoma, daidai da kashi 12.6 cikin 100 na lokuta, ciwon ciwon kwakwalwa (kashi 12) da sarcomas nama mai laushi (kashi 11.6). Daga sarcomas mai laushi, rhabdomyosarcomas (RMS) sun fi yawan ganewa. Sauran sarcomas wadanda ba su da ƙasa da yawa sun hada da fibrosarcomas (wanda ba a taba ganin wani abu ne na gaskiya ba), fibroxanthomas inypical, leiomyosarcomas, orbital liposarcomas, sarcomas cell spindle, da sarcomas. Magungunan ilimin halitta, ko cutar jini (irin su ciwon cutar sankarar lymphoblastic mai tsanani da lymphoma Hodgkin) da kuma carcinomas adrenocortic sun faru a kashi 4.2 da 3.6 cikin dari.
Kamar yadda yawancin iyalan da suka maye gurbin irin kwayoyin halittar LFS an gano, an sami karin ciwon daji.
Kwayar ciwon daji na LFS ya fadada ya hada da melanoma, huhu, gastrointestinal tract, thyroid, ovarian, da kuma sauran cancers.
Bisa ga gwaje-gwaje na al'ada, haɗarin ciwon sarcoma mai laushi da ciwon daji na kwakwalwa ya fi girma a lokacin yaro, yayin da hadarin osteosarcoma na iya zama mafi girma a lokacin samari, kuma hadarin ƙwayar nono na mace yana ƙaruwa a kusan shekaru 20 kuma ya ci gaba da tsufa girma. Wadannan kididdigar suna iya canzawa, duk da haka, tun lokacin da ake gudanar da gwaji don ciwon daji-kwayoyin jigilar kwayoyin halitta sun fara.
Ta Yaya Za a Faɗar da Lafiya na Li-Fraumeni?
Akwai matakai daban-daban da kuma ma'anar wannan ciwo. Wasu sun fi dacewa da wasu. LICic Classic shine mafi mahimmancin fassarar, kamar yadda yake buƙatar ganewar sarcoma kafin shekaru 45, yayin da ma'anar bayanan da suka dace kamar ka'idojin Chompret sunyi ƙoƙarin ninka cikin ilimin kimiyya game da nau'in tumo da kimanin shekaru a ganewar asali.
Classic LFS sharudda:
- An gano ku tare da sarcoma (nau'in ciwon daji wanda ya hada da kwayoyin jikoki na tsoka / skeletal / gado / mai asali) kafin shekaru 45 da haihuwa
- Aboki na farko (iyaye, yaro ko yaron) tare da duk wani ciwon daji da aka gano kafin shekaru 45 da haihuwa
- Wani mabukaci na farko ko na biyu (ya hada da mahaifi, mahaifa, da sauransu) tare da duk wani ciwon daji da aka gano kafin shekaru 45 ko sarcoma da aka gano a kowane zamani.
Ka'idojin Li-Fraumeni-kamar (LFL):
- Ka'idoji na LFL sun ba da babbar hanyar shiga wasu nau'in ciwon daji kuma sun haɗa da wasu dangi da aka gano bayan shekaru 45, kuma akwai ma'anoni daban daban a amfani:
- Binciken Birch: An gano ku tare da kowane ciwon ƙwayar yara ko sarcoma, ƙwaƙwalwar ƙwaƙwalwar ƙwaƙwalwar ƙwayar cuta, ko kuma karar da aka gano a gaban shekaru 45 da kuma digiri na farko ko na biyu dangane da ciwon daji na Li-Fraumeni (sarcoma, ciwon nono, ciwon kwakwalwa, adrenocortical carcinoma, ko cutar sankarar bargo) a kowane zamani da kuma mataki na farko ko na biyu dangane da kowane ciwon daji kafin shekaru 60.
- Bayanin Eels: Kana da zumunta na farko da na biyu tare da cutar mallaka na Li-Fraumeni (sarcoma, ciwon nono, ciwon kwakwalwa, cutar sankarar bargo, ciwon adrenocortical, melanoma, ciwon gurgu, ciwon cizon sauro) a kowane zamani.
Tsarin sharudda:
- Kuna da ciwon daji na Li-Fraumeni ciwon sukari (sarcoma mai laushi, osteosarcoma, ciwon daji na premenopausal, ciwon kwakwalwa, ciwon adonocortical carcinoma, cutar sankarar bargo, ko ciwon huhu na huhu) kafin shekaru 46 da kuma akalla daya na farko- ko na biyu- digiri na dangantaka da cutar tumakin Li-Fraumeni (sai dai ciwon nono, idan kana da ciwon nono) kafin shekaru 56 da haihuwa ko tare da ciwon magungunan ƙwayar cuta ko
- Kuna da ciwon sukari (sai dai ƙwayar ƙwayar ƙwayar nono), 2 wanda ke cikin launi na Li-Fraumeni da kuma wanda ya faru kafin shekaru 46 ko
- An gano ku tare da ƙwayar ƙarancin adrenocortical ko tumor choroid plexus, ba tare da la'akari da tarihin iyali ba.
Bisa ga nazarin LFS na Schneider da abokan aiki, a kalla kashi 70 na mutanen da aka bincikar asibiti (wato, ta yin amfani da ma'anar kamar su a sama) suna da mummunar maye gurbin kwayar cutar ta TP53.
Gudanar da Cancers
Idan mutum tare da LFS na tasowa ciwon daji, ana ba da shawarar maganin ciwon daji na yau da kullum, banda gajiyar nono, wanda aka yi amfani da mastectomy, maimakon lumpectomy, don rage kasadar cutar ciwon nono na biyu kuma har ma don kaucewa farfadowa.
Wadanda ke da LFS suna ba da shawara su guje wa maganin radiation a duk lokacin da zai yiwu don ƙayyade haɗari ga radiation ta biyu-haifar da mummunan aiki. Duk da haka, idan an dauki radiyo da mahimmancin wajibi ne don inganta zaman rayuwa daga mummunan da aka ba shi, ana iya amfani da shi a hankali na likita da haƙuri.
Binciken da Kulawa
An kira gagarumin kira ga masana don samar da wani ra'ayi game da yadda za a kula da kulawa da iyalai tare da FLS. Abin takaici, yayin da kimiyyar ke cigaba da sauri, babu irin wannan yarjejeniya har yanzu yana cikin dukkan yankuna.
Yawan mita maye gurbin TP53 a yawancin jama'a ba'a san shi ba, kuma bidiyon gaskiya na FLS ba a sani ba. Rahotanni sun bambanta tsakanin 1 a cikin 5,000 da 1 a 20,000. Yayinda yawancin iyalan ke shan gwajin TP53, gaskiyar LFS na iya zama bayyane.
Yin Magana game da Yanayin Ciwon Kankara
A Amurka, Ƙungiyar Ƙwararren Ciwon Kankara ta Kasa (NCCN) tana bada shawarar MRI shekara daya shekaru 20-29 da shekaru MRI da mammography daga shekaru 30 zuwa 75. A Ostiraliya, sharuɗɗa na ƙasa sun bada shawarar cewa an ba da mastectomy na haɗin gwiwar, in ba haka ba an ba da MRI na shekara daya daga 20 zuwa 50. Schon da abokan aiki sun bayar da shawarar cewa za a yi la'akari da zaɓin zaɓi don rage haɓakar haɓaka ko ƙwalƙwarar mata a cikin mata ba tare da ciwon daji tare da maye gurbin a cikin tsarin TP53 ba.
Shawarwarin NCCN
Bisa ga gano cewa ciwon daji na ciwon haɓaka yana ƙaruwa a bayan shekaru na biyu, shawarwari sun hada da cewa an yi la'akari da mastectomy tsakanin mutum ashirin da shekaru. wanda ba zai yiwu ya amfana mata fiye da shekaru 60 ba.
- Sanin nono, farawa a shekaru 18, tare da jarrabawar jariri ta jiki.
- Nazarin jariri na jariri, kowane watanni 6-12, yana farawa tun yana da shekaru 20
- Shekaru 20-29, shekara-shekara na MRI mamba tare da bambanci
- Shekaru 30-75, shekara-shekara na MRI na nunawa da bambanci da mammogram tare da la'akari da Tomosynthesis
- Shekaru> shekaru 75, gudanarwa ya kamata a yi la'akari a kan kowane mutum.
- Ga matan da suka canzawa TP53 wadanda aka kula da su don ciwon daji, kuma wadanda ba su da wata masifa, suna nunawa tare da MRI da mammogram a shekara daya ya kamata su ci gaba kamar yadda aka bayyana a sama.
- Lokacin da aka tattauna zabin mastectomy na rage hadari, ya kamata shawara game da mataki na kariya, digiri na ciwon daji na musamman kan ciwon daji, gyaran sake ginawa, da kuma hadarin barazana ga sauran cututtuka. Dole ne a hada halayen ƙwarewa, zamantakewar jama'a, da kuma kyawawan dabi'u na jimillar haɗarin haɗarin haɗarin haɗari a cikin irin wannan tattaunawa.
Yin Magana da Sauran Ciwon Cancer
Shawarwarin NCCN
- Cikakken nazari na jiki da ya haɗa da binciken kwayoyin cutar tare da babban mahimmanci na tuhuma don ciwo da cututtuka da rashin lafiya na biyu a masu ciwon daji a kowane watanni 6-12.
- Colonoscopy da kuma babba na ƙarshen kowace shekara 2 zuwa shekara 25 ko shekaru biyar kafin ciwon daji na farko da aka sani a cikin iyali (duk wanda ya fara).
- Binciken binciken binciken shekara-shekara na farawa a shekaru 18.
- Shekarar shekara ta jiki MRI
- Kwafi na yau da kullum MRI za'a iya aiki a matsayin ɓangare na duka MRI jiki ko a matsayin jarrabawa daban.
Sauran Shirye-shiryen Kulawa da Kulawa
Akwai fitina mai gwajin gwagwarmaya na kamuwa da halayen watsi (FDG-PET) / CT a cikin tsofaffi tare da LFS da suka gano ciwon sukari a cikin mutane 15 daga cikin mutane 15. Wadannan PET-CT sunyi kariya, ko da yake suna da kyau don gano wasu ciwace-ciwacen ƙwayar cuta, kuma suna kara yawan hotuna a duk lokacin da aka aikata su, don haka an dakatar da wannan hanyar dubawa kuma ya canza zuwa ga MRI duka jiki ga manya da TP53 bambance-bambancen cutarwa.
Kungiyoyin bincike da yawa sun fara amfani da shirin ci gaba mai zurfi ciki har da MRI, jiki mai kwakwalwa na MRI, jarrabawar duban dan tayi, da kuma jarrabawar jarrabawar aiki na cortical. Irin wannan tsarin kula zai iya inganta rayuwar mutane tare da LFS ta hanyar gano kwayar cutar ciwon daji kafin a sami wasu alamu, amma ana bukatar ƙarin nazarin don nuna cewa irin wannan tsarin yana aiki a cikin manya da yara tare da LFS.
An tambayi kowannensu tare da LFS game da dabi'unsu game da kula da ciwon daji, kuma mafi yawan sunyi imani da muhimmancin kulawa don gano ciwon sukari a wani wuri. Har ila yau, sun bayar da rahoto game da kula da tsaro da hade da shiga cikin tsarin kulawa na yau da kullum
Yara jarrabawa ga TP53 Mutuwa
Yana yiwuwa a jarraba yara da matasa don haɓaka LFS, amma an damu da damuwa game da hadarin, haddasawa, da iyakancewa na yin haka, ciki har da rashin kulawa da tabbatarwa ko hanyoyin rigakafin, da damuwa game da lalatawa da nuna bambanci.
An bada shawarar cewa gwada gwagwarmayar kananan yara fiye da shekaru 18 don TP53 bambance-bambancen pathogenic a cikin shirin da ke samar da bayanan gwaji da bayan bayanan gwaji da shawarwari.
> Sources:
> Ballinger ML, Mafi A, Mai PL, et al. Binciken baseline a cikin Li-Fraumeni ciwo ta yin amfani da hotunan jigilar jiki na jiki duka: wani zane-zane [aka buga a ranar Agusta 3, 2017]. JAMA Oncol.
> Correa H. Li-Fraumeni Ciwo. J Pediatr Genet. 2016; 5 (2): 84-88.
> Katherine Schon da Marc Tischkowitz. Abubuwan da ke cikin asibiti na maye gurbin kwayar cutar a cikin ciwon nono: TP53. Ciwon Cancer Res Treat. 2018; 167 (2): 417-423.
> Mai PL, Mafi kyawun AF, Peters JA, et al. Risks na farko da m cututtuka tsakanin TP53 maye gurbin-masu sufurin a cikin NCI LFS ƙungiyar. Ciwon daji . 2016; 122 (23): 3673-3681.
> Ka'idodin aikin NCCN na aikin likita a kan ka'idar kimiyya 1.2018 - Oktoba 3, 2017: Kwancen kwayoyin halitta / iyali: kima da ovarian. Ka'idojin Harkokin Kasuwancin NCCN: http://www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf.
> Tinat J, Bougeard G, Baert-Desurmont S, et al. 2009 version na Chompret ma'auni don Li Fraumeni ciwo . J Jara Incol. 2009; 27 (26): e108-9.