Zbornik - Društvo genetičara Srbije

204 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-1
Subotica, 30. novembar - 4. decembar 2004.
HETEROGENE ABERACIJE 11q23 U HEMATOLOŠKIM MALIGNITETIMA
Sandra Biiæ, Vesna Ðorðeviæ, Marija Denèiæ-Fekete, Jelica Jovanoviæ,
Mirjana Gotiæ i Darinka Boškoviæ
Institut za hematologiju, Klinièki centar Srbije, Beograd
Aberacije na hromozomu 11 u regionu q23 mogu se uoèuiti citogenetskom analizom u
svim hematološkim malignitetima sa uèestalošæu do 10% kao solo aberacija ili udruene
sa drugim hromozomskim promenama. U regionu 11q23 mapiran je MLL gen, èiji je
produkt vaan regulacioni faktor procesa hematopoeze, tako da sve promene u ovom
regionu dovode do maligne transformacije æelija razlièitih krvnih loza. Zbog èinjenice da
su aberacije u ovom regionu hromozoma 11(11q23/MLL) veoma razlièite i nisu u
korelaciji sa morfologijom trasformisanih æelija, klasifikovane su kao poseban entitet
malignih hemopatija (WHO classification). Posebno su interesantne translokacije koje
dovode do fuzije MLL gena sa oko 50 razlièitih «partner» gena. Bolesnici kod kojih je
utvrðeno prisustvo aberacije 11q23/MLL imaju lošu prognozu bez obzira na tip promene.
Kod 11 bolesnika promena u regionu 11q23 je bila kao solo aberacija, a kod 9 bolesnika
udruena sa drugim aberacijama. Promene 11q23 su bile tipa: delecija, inverzija , adicija
hromatinskog materijala nepoznatog porekla i translokacija. Najèešæa translokacija bila
je sa partner genom na hromozomu 4(q21) kod 7 bolesnika, po jednog bolesnika sa
genom na hromozomu 2(p21), na hromozomu 17(q12) i na hromozomu 19(p13).
Posebno je interesantna kompleksna translokacija u kojoj pored hromozoma 11 uèestvuju
hromozomi 7(q22) i 12(p13).
Aberacije 11q23 u grupi naših bolesnika bile su heterogene po tipu promena, vrsti «partner»
gena ukljuèenih u fuziju, što nije imalo znaèaja za dalji tok bolesti kao ni odgovor na
terapiju.
HETEROGENOUS ABNORMALITIES OF 11q23
AT HEMATOLOGICAL MALIGNANTS
Chromosome 11 abnormalities at q23 region can be observed by conventional
cytogenetic analyses at all hematological malignants with frequence up to 10%, as solo
abnormality or in combination with other chromosomal abnormalities. Product of MLL
gene, which is maped at 11q23 region, is important hematopoesis regulation factor.
Therefore, all abnormalities at this region lead to malignant blood cell transformations.
As abnormalities at this region of chromosome 11 (11q23/MLL) are heterogeneous and
they are not in correlation with morphology of transformed cells, this aberations were
classified as a separate group of malignant hemopathy (WHO classification).
Translocations, which lead to fussion of MLL gene with about 50 different «partner»
genes, are especially interesting. Patients with 11q23/MLL abnormality have poor prognosis
for all types of abnormalities.
It was obsereved that in 11 patients abnormalities at 11q23 region occured as a solo abnormalities,
but in 9 patients this anormality was associated with other abnormalities.
Types of 11q23 abnormalities were: deletions, inversions, aditions of chromatine material
of unknown source and translocations. The most abundant translocation was with the
partner gene at chromosome 4(q21) – 7 patients. Other translocations were with partner
gene: at chromosome 2(p21) – 1 patient, at chromosome 17(q12) – 1 patient and at chromosome
19(p13) – 1 patient. A complex translocation of chromosome 11 with chromosome
7(q22) and chromosome 12(p13) was especially interesting.
11q23 aberations, in our group of patients, were heterogenous by type of aberation, kind
of partner genes included in fussion, but without importance for the course of a disease
and outcome to therapy.