Zbornik - Društvo genetičara Srbije

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210 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-7 Subotica, 30. novembar - 4. decembar 2004. TRANSLOKACIJA t(8;21)(q22;q22) I NJENE VARIJANTE U AKUTNOJ MIJELOIDNOJ LEUKEMIJI Jelica Jovanoviæ, Vesna Ðorðeviæ, Marija Denèiæ-Fekete, Sandra Biiæ, Mirjana Gotiæ i Darinka Boškoviæ Institut za hematologiju, Klinièki centar <strong>Srbije</strong>, Beograd Translokacija t(8;21)(q22;q22) je jedna od najèešæih citogenetskih abnormalnosti u akutnoj mijeloidnoj leukemiji. Preko 90% sluèajeva korelira sa dijagnozom AML M2, a reðe se nalazi u AML M1 i AML M4. Na hromozomu 8 prekid se dešava u okviru ETO gena a na hromozomu 21 u okviru AML1 gena pri èemu se formira fuzioni AML1/ETO gen koji je lociran na derivatu hromozoma 8. Posebno su interesantne kompleksne translokacije gde pored hromozoma 8i21uèestvuje i treæi hromozom. U Laboratoriji za citogenetiku Instituta za hematologiju KCS u periodu od januara 1990. do septembra 2004. godine, bilo je 47 AML pacijenata sa t(8;21)(q22;q22). Meðu njima je svega 3 pacijenta sa kompleksnim translokacijama gde su, pored hromozoma 8 i 21 ukljuèeni sledeæi regioni: 3p11, 5q13 i 9q34. Od 47 pacijenata sa t(8;21)(q22;q22) 40 je bilo sa dijagnozom AML M2, 5 sa AML M4 i 2 sa AML M1. 24 pacijenta su imala t(8;21) kao solo aberaciju a kod ostalih su detektovane dodatne citogenetske aberacije. Najèešæa dodatna aberacija je gubitak Y hromozoma i ona je prisutna kod 15 pacijenata. Iako je kod pacijenata sa varijantnim tipom translokacije t(8;V;21) došlo do kompleksnijih promena na nivou hromozoma, derivat hromozoma 8 je na citogenetskom nivou ostao intaktan. Kako se kod ovih pacijenata razvio isti tip hematološkog maligniteta kao i kod standardne t(8;21)(q22;q22), najverovatnije struktura fuzionog AML1/ETO gena, koji je glavni leukemogeni faktor, nije narušena. TRANSLOCATION t(8;21)(q22;q22) AND ITS VARIANTS IN ACUTE MYELOID LEUKEMIA Translocation t(8;21) is one of the most common cytogenetic abnormalities found in AML. More then 90% of all cases found are in correlation with AML-M2, rarely with AML-M1 and M4. Breakpoint on chromosome 8 is in the region of ETO gene, while on chromosome 21 it is in the region of AML1 gene. As a result of translocation, new fusion gene called AML1/ETO is formed, and located on derivate of chromosome 8. Specially interesting are complex translocations in which besides chromosomes 8 and 21, third chromosome is involved. Since January 1990. until September 2004. in cytogenetic laboratory of Institute of hematology KCS we had 47 patients with AML who had t(8;21). Among them only three patients had complex translocations, which involved following chromosomes and their regions: 3p11, 5q13 and 9q34. In this group of 47 patients with t(8;21), 40 had diagnosis of AML-M2, five had AML-M4 and two had AML-M1. Twenty four patients had t(8;21) as the only aberration, while the other in this group had additional cytogenetic aberrations. The most common additional aberration, found in 15 patients, was the lost of chromosome Y. Despite the fact that patients with variable type of translocations had more complex changes at chromosomal level, on cytogenetic level derivate of chromosome 8 stayed intact. Most probably the structure of fusion gene AML1/ETO, which was the main leucogenic factor, was not changed. That could be the explanation why these patients had the same type of hematological malignancy as the one with standard translocation t(8;21).
V-Pos-8 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 211 Subotica, 30. novembar - 4. decembar 2004. TRANSLOKACIONI OBLIK DAUNOVOG SINDROMA (PRIKAZ SLUÈAJA) I. Kaveèan, J. Jovanoviæ-Privrodski, M. Obrenoviæ i Lj. Gaæina Daunov sindrom, najèešæe se javlja u klasiènoj formi u oko 95% sluèajeva, translokacijski tip se javlja u uèestalosti u 4-5%, a mozaièni tip 1-2%. Na hromozomu 21 nalazi se region pod nazivom «Daun kritièni region», lokalizovan na 21q22.1-q22.3, odgovaran za fenotipske karakteristike Daunovog sindroma. Mozaièni tip Daunovog sindroma nastaje postzigotièno, i u tom sluèaju su slabije izraene fenotipske karakteristike Daunovog sindroma. Prikaz sluèaja: drugo dete iz pete nekontrolisane trudnoæe 41- godišnje majke (1. zdravo dete, 3 spontana pobaèaja). Po roðenju, uoèene fenotipske karakteristike Daunovog sindroma: koso postavljeni oèni otvori, hipertelorizam, epikantusi, širok koren nosa, nosni otvori okrenuti put napred, uške loše modelirane, asimetriène, usne tanke, nepce višlje postavljeno, blag pectus infundibuliforme, klinodaktilija V prsta na rukama, sandalske brazde na stopalima, nie postavljen umbilikus, izraena hipotonija, atrezija anusa (hirurški korigovana), uroðena srèana mana (trikuspidna regurgitacija, mitralna regurgitacija, ductus arteriosus). Minor malformacioni skor: 6 Kariotip deteta: 46,XY,-21,+t(q21;q21)– translokacijski tip Daunovog sindroma. Obzirom da se radi o translokacijskom tipu Daunovog sindroma kod deteta, uraðen je kariotip roditeljima. Majka se leèi na Klinici za psihijatriju, završila osnovnu školu, domaæica. Do roðenja deteta nije upuæivana kod genetièara. Kariotip majke: 46,XX/46,XX,-21,+t(q21;q21) 98:2, mozaièna forma Daunovog sindroma, nebalansirana translokacija, u procentu od 2%. U ovom sluèaju, majka ima nebalansiranu translokaciju i mali procenat æelija (2%) sa translokacionim oblikom Daunovog sindroma, što predstavlja redak oblik hromozomske aberacije. DOWN SYNDROME: TRANSLOCATION TYPE (CASE REPORT) Downs syndrome (DS) appears as 21. chromosome trisomy (95% cases), translocation type (4-5% cases) and mosaic type (1-2% cases). Part of 21. chromosome that deals with phenotypic features of Down syndrome is called «Down Critical Region» (DCR). DCR is located on 21q22.1-22.3. Mosaic type appears postzygoticaly and phenotypic features are weaker. Case Report: second child from fifth non-controlled pregnancy (1 healthy child, 3 miscarriages), mothers age is 41. Phenotypic features of Down Syndrome on birth: slanted palpebral fissures, hipertelorism, epicantic folds, flattened nasal root, anteverted nostrils, abnormal auricles, asymmetric auricles, thin lips, high palate, mild pectus excavatum, 5th finger clinodactyly on hands, plantar crease between 1st and 2nd toes, distally displaced umbilicus, serious hipotony, imporferated anus (surgically corrigated), congenital heart disease (tricuspidal regurgation, mitral regurgation, ductus arteriosus). Minor malformation score: six. Kariotype: 46, XY, -21, +t(q21;q21). Since translocation type is estimated, parents kariotypes were done. Mother is hospitalized on Psychiatry, elementary school, and housewife. First genetic counsel was done after this child had been born. Mothers kariotype: 46, XX/ 46,XX, -21, +t(q21;q21), 98 versus 2 analyzed cells. This is mosaic form of Down syndrome with unbalanced translocation in 2%. In this case mother has nonbalanced translocation and low percent (2% cells) with translocation type of Down Syndrome versus child who has 100% translocation type. Both cases are rare.
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DRUŠTVO GENETIČARA SRBIJE SERBIAN
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Zbornik - Društvo genetičara Srbije

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