, ;
, \ ' \ A , 1
^;,Ay
^
ee
V-
' •
ULUSAL TIBBiBiYGLOJiVE GENETIK KONGRESi
»S-10 1 1
Cocuktuk cagt Akut Lenfoblastik Ldsemi (ALL), lenfoid progenitor
hijcrelerlnden kaynaklanan malign bir hastalikbr Cocukluk ;agi
tosemiler arasmda en yaygin tip olup, 2 ile 5 ya^tan arasinda
genetics study of bone marrow and peripheral blood
; in chronic myeloid leukemia patients
gorulme sikligt artmaktadir. ^ocukluk ?agi prekursor B hucreli
ALL hastatarmda t(12;2i)(pl3;q22) translokasyonu %25 oraninda
gfirulmektedir. Bu translokasyonda TEL {ETV6) ve AMLl(RUNXl)
lloheila Manaflouvan
KhaJehmarianv^
Seyed
AM Rahman(^
I Seyed Kadi ChavoshH, Ali Esfaha^i^ Aliakbar Movassagpour Akbari'
genlerinin iirUnu olan Iki transkripsiyon faktoru i§e kanjmaktadir.
Klinik olarak, TEL-AMLl pozitif hastalar iyl prognoza sahip olarak
degeriendirilmektedir. Ancak, 21 nolu kromozomun ekstra kopyalari
ve TEL geninin kaybi gibi t{12;21} ile in$kilt ek anomaiiler ta§iyan
It of Genetic, Azad Unh/enity, Iran, Ahar
hastalann %10-20'si relaps ve/veya kbtu prognoza sahip olarak
rapor edilmijtir. Bu ^ahjmada, ALL tanisi almij 212 hastaya ait
I Apartment of Hematology- oncology. Medical Sden{£ University, Iran,
kemik Jiigi orneklerinde t(12;21) translokasyonunun olup oimadigi
ve diger ilijkili anomaiiler, ETV6(TEL)/ RUNXl(AMLl)
Chronic myeloid leukemia is a myeloproliferative disease. Hallmark
tifCMl is Philadelphia chromosome that is caused by t(9;22)
|n34;qll). Our aim was comparing of bone marrow and peripheral
Wood cells in order to recognize and also assess the chromosomal
imormaiities at the moment of diagnosis and during imatinib
therapy for monitoring therapeutic response in CML patients,
the incidence of chromosomal abnormalities was determined in
pi patients suspected of CML using G-banding of cultured bone
marrow and peripheral blood celts. Chromosomal analysis of 31
CMl patients demonstrated the presence of ph chromosome in
leases of peripheral blood and 9 cases of bone marrow cells. In
cytogenetic study, among of 31 patients that suspected to
CML, 13 cases were Ph+- 9 and 4 cases of them was found
espectively on bone marrow and peripheral blood cel!s.4 cases
of patients were under imatinib therapy respectively for 1,3,4,5
«ars. The first case of them at the moment of diagnosis was in CP
snd 100% of his bone marrow cells showed Ph chromosome while
ES dual
color translokasyon probu ile floresan in situ hibridizasyon (FISH)
tekntgi kullaniiarak analiz edilmi; ve ayni zamanda konvansiyonel
sitogenetik analizteri de ger^ekle^tirilmi^tir. Elde edilen sonu^lar
klinik veriler ve llteraturdeki diger fali5malar ile karjilajtinlarak
degerlendirilmijtir. Qocukluk gagi ALL'li 42 hastada (%19,8) TEL
ve A M L l ile lli^kili anomaiiler belirlenmi^tlr. Bu anomalilerin 33'u
(%7a,6) yapisal, 9'u (%21,4) ise saytsal degijimlerden olujmaktadir.
Pediatrik ALL vakalarinda saptanan FISH anomalileri sirasiyla;
t{12;21)(pl3;q22) TEL/AMLl fuzyonu (%6,6), A M L l amplifikasyonu
(%6,1), Tetrazomi/Trizomi
21 {%2,4), TEL delesyonu (%1,4),
A M L l amplifikasyonu ile birlikte TEL delesyonu (%0,9), A M L l
amplifikasyonu ile birlikte TEL amplifikasyonu (%0,9), Poliploidi
(%0,5), A M L l delesyonu {%0,5). Azalmij TEL sinyali (%0,5). t(12;21)
translokasyonu di§inda en sik kar5ita5ilan yapisal degijimler A M L l
amplifikasyonu ve TEL delesyonu, sayisal degi$im ise 21 nolu
kromozomun trizomisidlr. Bu bulgular literatur lie uyumlu olarak
degerlendirilmtstir.
his peripheral blood cells were negative for every chromosomal
abMrmality. After passing one year of treatment, this patient
jsrogressed to BP. The other cases showed CCgR to treatment. Bone
Rtarrow
cells are better than peripheral blood cells for diagnosis,
monitoring and evaluation of CML disease by cytogenetic methods.
Evalution of TEL/AM Li fusion and additional abnormalities
Involving TEL and/or AMLl genes by fluorescence In
situ hybridization in patients with childhood acute
lymphoblastic leukemia
;But usage of molecular techniques to detect other variant Ph
^romosome is recommended.
Cifedem Avdin'. Zafer Cetin*. Funda Tayfun^ Alphan Kupesi^^
Sibel Berker KaraUzum'
PS-10 1 2
'Department of Medical Biology and Genetics, Akdeniz University, School of
Medicine, Antalya,Turkey
^ukluk ^gi akut lenfoblasttk losemili hastalarda floresan
situ hibfidizasyon lie TEL / AMU fUzyonu ve TEL - AMLl
genlerini i^eren ek anomalilerin degerlendtrilmesi
^Department of Pediatric Hematology, Akdeniz University, School of
Medicine, Antalya,.Turkey
Childhood Acute Lymphoblastic Leukemia (ALL) is a malignant
Qgdem Avdin'. Zafer Qetin\a Tayfun^ Alphan Kiipeslz^
disorder of lymphoid progenitor cells with a peak incidence
Sbel Berker KarauziJm'
among 2-5 years of age and is the most common type of childhood
leukemia. The t(12;21)(pl3;q22) translocation occurs in 25%
of childhood B-cell precursor ALL. This translocation involves
^Mdenii Oniversitesi Tip Fakultesi, Tibbi Biyoloji ve Genetik Anabilim Dolt,
Antalya
two transcription factors which is encoded by TEL {ETV6) and
AMLl(RUNXl) genes. Clinically, TEL-AMLl positive patients have
'Akdeniz Oniversitesi Tip Fakiiitesi, Pediatrik Hematoloji Bitinj Dali, Antalya
Download

ULUSAL TIBBiBiYGLOJiVE GENETIK KONGRESi »S-10 11 PS