Izingozi zengozi, ukukhubazeka kweGene, ukuguqulwa kwamaseli eStem kanye ne-JMML
Iyini i-juvenile i-myelomonocytic leukemia (i-JMML) futhi iphathwa kanjani?
I-Juvenile Myelomonocytic Leukemia (JMML) - Incazelo
I-juvenile ye-myelomonocytic leukemia (i-JMML) uhlobo olunqabile lomdlavuza wegazi ohlambalazayo oluthinta izinsana nezingane ezincane; i-akhawunti engaphansi kwe-1% ye-leukemias yobuntwana. Isilinganiso seminyaka yezingane ezixilongwa uneminyaka emibili ubudala, futhi akuvamile ukubona amacala ezinganeni ezindala kuneminyaka eyisithupha ubudala.
Kungama-2 ½ izikhathi ezivamile kakhulu kubafana kunamantombazane.
I-JMML nayo ibizwe ngokuthi i-juvenile e-chronic myelogenous leukemia (JCML), i-juvenile chronic granulocytic leukemia, engapheli futhi ihlukumeza i-myelomonocytic leukemia, ne-infosle monosomy 7.
Kwenzeka kanjani
I-JMML iyenzeka uma izinguquko (isibonelo, izinguquko) ziqoqa ku-DNA yehlobo lwe-stem cell emnothweni wesifuba ovame ukuphakamisa uhlobo lweseli olwaziwa njenge- monocyte . Izinguquko zenza ukuthi iseli ethintekile liphindwe ukulawula.
Njengoba izinombolo zalezi maseli ezingavamile zikhula, ziqala ukuthatha umnyofu wethambo. Ngokuhamba kwesikhathi, bazophazamisa umsebenzi oyinhloko wamasongo, okuzokhiqiza amangqamuzana egazi abomvu, amaseli egazi omhlophe aphilile namaplatelets.
Izingozi Zezingozi
Abacwaningi abazi ukuthi kubangelwa yini ushintsho lwe-DNA oluholela ku-JMML, kodwa izifundo ezintsha ziphakamisa ukuthi zingathola ifa kusukela kubazali bomntwana.
Izingane ezine-neurofibromatosis uhlobo I no-Noonan syndrome zinomngcipheko okhulayo wokuthuthukisa i-JMML, nezingane ezingafinyelela ku-14% ezixilongwa nge-JMML ene-Noonan syndrome.
Izimpawu nezibonakaliso ze-JMML
Izimpawu nezimpawu ze-JMML zihlobene nokuqoqwa kwamangqamuzana angavamile emnothweni wethambo namalungu. Zingafaka:
- Isikhumba esiphezulu
- Izifo ezivame ukugula noma ukugula
- Ukusuka okungavamile
- Isisu esivulekile esihlobene nesipuli esikhulisiwe ( splenomegaly ) nesibindi esandisiwe
- Fever
- Rash
- Ukunciphisa ukudla
- Isikhukhula
- Ukubambezeleka kokuthuthukiswa
Lezi zingabuye zibe izibonakaliso nezimpawu zezinye izimo ezingezona umdlavuza. Uma ukhathazekile ngempilo yengane yakho, into engcono kakhulu ongayenza ukuvakashela umhlinzeki wakho wezempilo.
Ukuthola i-JMML
Ukuze kutholakale i-JMML, odokotela bazohlola imiphumela yokuhlolwa kwegazi kanye nesifiso somswakama we-bone kanye ne-biopsy . Ukuthola okunye kuzobonisa i-JMML:
- Inani eliphakeme lemhlophe yegazi, ikakhulukazi ama-monocytes aphezulu
- Ukubala kwesibalo se-red ebomvu (i-anemia)
- Inani leplatelet eliphansi (thrombocytopenia)
- Ukungahle kwenzeke ku-chromosome 7
Ukuntuleka kwe- chromosome yamaFiladelphia kuzosiza ekutholeni ukuthi lesi sifo akuyona isifo esingenasifo esibelethwe yi-myelogenous leukemia (CML) .
Izifo Zendlela
Kunezindlela ezintathu ezihlukile ukuthi lolu hlobo lwe-leukemia lusebenza kanjani. Ngokwehlobo lokuqala lesi sifo siphuthuka ngokushesha. Ngohlobo lwesibili, kunesikhathi esithatha isikhathi lapho ingane izinzile, ilandelwa inkambo eqhubekayo ngokushesha. Ngohlobo lwesithathu, izingane zingathuthukisa futhi zihlale zibonisa ukuthi zinobufakazi obuyimfihlo kuze kube yiminyaka engu-9, ngaleso sikhathi isifo siqhubeka ngokuqhubekayo ngaphandle kokwelashwa.
Ukwelashwa kwe-JMML
Ukwelashwa okuyinhloko kwe-JMML yi-stem cell transplant, kodwa ngezikhathi ezithile ukwelashwa kusetshenziselwa futhi.
Ukuhlinzwa
Indima yokuhlinzwa ekwelapheni i-JMML inengxabano.
Enye ye-protocol yocwaningo oluvamile (i-Children's Oncology Group-COG) uncoma i-splenectomy (ukukhishwa kwamantombazane) kuzo zonke izingane ezinezifo eziye zanda. Okunye okuyinhloko yokwelashwa kwe-JMML yokwelapha (i-European Working Group ku-Myelodysplastic Syndrome ebuntwaneni- i-EWOG-MDS) ishiya udokotela wesiguli ukuba anqume. Akukwazi ukuthi inzuzo yesikhathi eside yale nqubo ingaphezu kwezingozi.
I-Chemotherapy
Kulo lonke, i-JMML ijwayele ukuba nempendulo embi kumakhemikhali. I-Purinethol (6- Mercaptopurine) no-Sotret (i-isotretinoin) yizidakamizwa ezisetshenzisiwe ngesilinganiso esincane sempumelelo.
Ngenxa yenzuzo elinganiselwe ekwelapheni i-JMML, i-chemotherapy ayiyona indinganiso.
Ukufakelwa kweStem Cell
Ukuguqulwa kwe- Allogeneic stem cell yilapho kuphela ukwelashwa okunganikeza ukwelashwa isikhathi eside kweJMML. Ukucwaninga kuthole amazinga afanayo okuphumelela ngokulingana nabanikeli bomndeni we-stem cell noma abaxhasi abangahlangani abafanane nabo.
Isilinganiso sokubuyela emuva ngemuva kokufakelwa kwe-stem cell for JMML singase sibe phakathi kuka-30% no-50%, okuphakeme kakhulu. Ukubuyela emuva kubonakala cishe kwezinyanga ezintathu no-2 emva kokufakelwa, futhi cishe njalo phakathi nonyaka. Nokho, naphezu kwalezi zinombolo ezidikibalalayo, iziguli zivame ukuthola impatho nge-second stem cell transplant.
Naphezu kwesidingo sokwelashwa okunonya, izingane ezineJMML zenza kangcono kakhulu ngentuthuko efana ne-stem cell transplants. Kutholakala ocwaningweni olulodwa lokuthi izinga lokusinda iminyaka emihlanu yezingane ezitholwe ngamaseli omzimba omndeni afanelana nawo angama-55%, eneminyaka engu-49 yokusinda engama-49% kulabo ababengabaxhasi abangahlangani, futhi lokhu ukwelashwa kuthuthukisa sonke isikhathi .
Okubalulekile
Njengomzali, enye yezinto ezinzima kakhulu ukucabanga ukuthi ingane yakho noma ingane yakho igula. Lolu hlobo lokugula lungabangela ukucindezeleka okukhulu kwengane, abazali kanye nezingane zakubo. Kungase kube nzima ukuchaza isimo esiyinkimbinkimbi kubantwana bakho, ngaphandle kokukwazi ukumboza ikhanda lakho nxazonke wena ngokwakho.
Sebenzisa amaqembu okusekela noma izinsiza ezinikezwa isikhungo sakho somdlavuza, kanye nabathandekayo bakho, abangane, umndeni kanye nomakhelwane. Ngenkathi wena nomndeni wakho kungenzeka nibhekene nemibono eminingi nemizwelo, kubalulekile ukukhumbula ukuthi kunethemba lokuphulukiswa nokuthi ezinye izingane ezineJMML ziqhubeka nokuhola impilo enempilo nokukhiqiza.
Imithombo
Chan, R., Cooper, T., Kratz, C., Weiss, B., noLoh, M. "I-Juvenile i-myelomonocytic leukemia: Umbiko ovela kwi-International JMML International Symposium" Leukemia Research 2009. 355-362.
Emanuel, P. "I-juvenile i-myelomonocytic leukemia ne-chronic myelomonocytic leukemia" I- Leukemia 12 Juni 2008 1335-1342.
Locatelli, F., Nollke, P., Zecca, M. et al. I-Hamtopoietic stem cell transplantation (HSCT) ezinganeni ezinezingane ezincane ze-myelomonocytic leukemia (JMML): imiphumela yesilingo se-EWOG-MDS / EBMT. Igazi . 2005. 105 (1): 410-9
I-National Cancer Institute. I-PDQ ye-Cancer Summaries Information. Inguqulo yezobuchwepheshe. Ukwelashwa Kwabantwana Okumangalisayo Kwe-Myeloid Leukemia / Eminye iMyeloid Malignancies Treatment (PDQ®). Ishicilelwe ku-intanethi 09/29/15. http://www.ncbi.nlm.nih.gov/books/NBK66019/#CDR0000062896__78
U-Niemeyer, uCro and Kratz, C. "I-levemia ye-myelomonocytic ye-Juvenile" I- Current Treatment Options ku-Oncology 2003 4: 203-210.
UJoshimi, A., Kojima, S., noHirano, N. "I-juvenile ye-myelomonocytic leukemia: i-Epidemiology, i-etiopathogenesis, i-diagnostic, kanye nokuphathwa kokuphathwa" Izidakamizwa Zezingane Zonyaka 2010 2010 1: 11-21.