Author/Editor		Rojc-Pečnik, V; Volavšek, Č; Černelč, P
Title		Kromosomske nepravilnosti pri bolnikih z akutno levkemijo
Translated title		Chromsomal abnormalities in acute leukemia
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 64, št. 10
Publication year		1995
Volume		str. 587-90
Language		slo
Abstract		Background. Various chromosome abnormalities are found in almost two thirds of patients with acute leukamia (AL). Translocations are most frequent, but inversions and deletions can also be found. In certain chromosome abnormalities acute leukaemia takes a favourable course, in others it does not. Patients. Chromosome abnormalities were assessed in 11 patients with acute lymphoblastic leukaemia (ALL) and 28 patients with acute myeloblastic leukaemia (AML) and in one patient with acute biphenotypical leukaemia. The age of 21 females and 19 males ranged from 17 to 79 years. Changes in the karyotype were assessed in cultivated bone marrow cells with an improved banding technique and presentation of aberrant clones. Results. The testing was successful in 31 patients with AL (31/40 = 77.5 percent), while in 9 (9/40 = 22.5 percent) there was an insufficient number of mitoses to assess the karyotype. In 17 (17/31 = 55 percent) patients the karyotype was normal, while chromosome aberrations were established in 14 patients (14/31 = 45 percent). Of 12 patients (12/23 = 52 percent) with AML and chromosome aberrations, translocations and one inversion, characteristic for subtypes of AML were found in 4 patients: ((t(4;11)(q23;q23) in AML M5, t(8;21)(q22;22) in AML M2, t(15;17)(p11;17)(p11;p12)(q22;q21) in AML M3)(inv(16)(p13;q22) in AML M4). Non-characteristic chromosome changes were found in other patients. Non-characteristic chromosome abnormalities were found in two (2/7 = 29 precent) of 7 patients with ALL. Conclusions. The assessment of chromosome abnormalities in patients with acute leukaemia is a relatively simple test which supplements the results of morphological, cytochemical and immunological characteristics of acute leukaemia in its diagnosis, but above all in the prognosis of the course of the illness and the selection of the most appropriate treatment.
Summary		Izhodišča. Pri skoraj dveh tretjinah bolnikov z akutno levkemijo (AL) ugotovimo različne kromosomske nepravilnosti. Najpogostejše so translokacije, poleg njih ugotovimo še inverzije in delecije. Pri nekaterih kromosomskih nepravilnostih ima akutna levkemija ugoden potek, pri drugih pa ne. Bolniki. Pri 11 bolnikih z akutno limfoblastno levkemijo (ALL) in 28 bolnikih z akutno mieloblastno levkemijo (AML) ter pri bolnici z akutno bifenotipsko levkemijo smo ocenjevali kromosomske nepravilnosti. Starost 21 žensk in 19 moških je bila od 17 do 79 let. Spremembe kariotipa smo ocenjevali v kultiviranih celicah kostnega mozga z izpopolnjenim načinom proganja in prikazom aberantnih klonov. Rezultati. preiskava nam je uspela pri 31 bolnikih z AL (31/40 = 7,5 odstotki), pri 9 (9/31 = 22,5 odstotki) je bilo premalo mitoz za oceno kariotipa. pri 17 bolnikih (17/31 = 55 odstotki) je bil kariotip normalen, kromosomske aberacije pa smo ugotovili pri 14 bolnikih (14/31 = 45 precent). Od 12 bolnikov (12/23 = 52 odstotkov) z AML in kromosomskimi nepravilnostmi smo pri 4 ugotovili značilne translokacije (t4;11)(q21;q23) pri AML M5, t(8;21)(q22;q22) pri AML M2, t(15;17)(p11lp12)(q22;q21) pri AML M3) in inverzijo (inv(16)(p13;q22) pri AML M4) za podvrste AML. Pri drugih bolnikih pa smo ugotovili še neznačilne kromosomske spremembe. Pri dveh (2/7 = 29 odstotki) od 7 bolnikov z ALL smo ugotovili neznačilne kromosomske nepravilnosti. Zaključki. Ocena kromosomskih nepravilnosti pri bolnikih z akutno levkemijo je relatino enostavna preiskava, ki dopolnjuje izsledke morfoloških, citokemičnih in imunoloških značilnosti akutnih levkemij pri njihovi opredelitvi, predvsem pa pri napovedi poteka bolezni in pri izbiri najustreznejšega zdravljenja.
Descriptors		LEUKEMIA, MYELOCYTIC, ACUTE LEUKEMIA, LYMPHOCYTIC, ACUTE CHROMOSOME ABNORMALITIES TRANSLOCATION (GENETICS) CHROMOSOME ABERRATIONS KARYOTYPING