Turkiye Klinikleri Journal of Medical Sciences

.: ORIGINAL RESEARCH
Aplastik Anemi Hastalarında Gözlenen Sitogenetik Düzensizlikler
Cytogenetic Aberrations in Patients with Aplastic Anemia
Rahiye Dilhan KURUa, Ayşe ÇIRAKOĞLUa, Şükriye YILMAZa, M. Cem ARb, Yelda TARKAN ARGÜDENa, Ayhan DEVİRENa, Teoman SOYSALb
aTıbbi Biyoloji ABD,
bHematoloji BD, İstanbul Üniversitesi-Cerrahpaşa Cerrahpaşa Tıp Fakültesi, İstanbul, TÜRKİYE
Turkiye Klinikleri J Med Sci. 2019;39(4):409-13
doi: 10.5336/medsci.2018-61785
Article Language: TR
Full Text
ÖZET
 Amaç: Aplastik anemi (AA), retikülün artışı ve patolojik bir infiltrasyonun eşlik etmediği hiposelüler kemik iliği ve çevresel kanda pansitopeni ile karakterize hematolojik bir hastalıktır. Hastalık kalıtsal ya da edinsel olarak ortaya çıkar. Edinsel AA hastalarının %15'inde immün baskılayıcı tedaviyle hematolojik remisyon elde edildikten yıllar sonra miyelodisplastik sendrom, akut miyeloid lösemi (AML) gibi maliniteler görülmektedir. AA hastalarında yapılan konvansiyonel sitogenetik çalışmalarında, hastaların yaklaşık %12'sinde çeşitli kromozomları ilgilendiren sayısal ve yapısal anomaliler bildirilmiştir. En sık gözlenen sitogenetik bozukluklar; 7. kromozomda delesyon/ monozomi ve +8'dir. Nadir de olsa 5. kromozomun uzun kolunda delesyon, +6, t(8;21), 13. Kromozomda delesyon/monozomi ve Y kromozomunun kaybı gözlenmiştir. -7, tipik olarak dirençli sitopeni veya AML ile ilişkili bir kötü prognoz belirtecidir. +8 tespit edilen AA hastalarında ise immün baskılayıcı tedaviye iyi yanıt alındığı bildirilmektedir. Gereç ve Yöntemler: AA tanılı 37 hastanın kemik iliği materyallerinde konvansiyonel sitogenetik yöntemiyle saptanan sitogenetik anomaliler sunulmaktadır. Çalışmada 24 ve 48 saatlik kültür yöntemleri uygulanmış ve GTL bant yöntemi ile incelenen kromozomlar 'International System for Human Cytogenomic Nomenclature 2016' kurallarına göre değerlendirilmiştir. Bulgular: Hastalarımızın %32'sinde anormal karyotip saptanmıştır. Hastalarımızda gözlenen kromozom anomalilerinden - 17 2 hastada, -7,+8, -9, +10, - 10, +11,-14,-16, del (17) (q11q21), -19, -20,-21, del(22) (q13), inv(X)(p11p23), X ve Y kromozomunun kaybı 1'er hastada saptanmıştır. Beş hastada ise tetraploid seviyesinde (92±) metafazlar tespit edilmiştir. Sonuç: Birer hastamızda gözlediğimiz -7 ve +8 bulguları AA'da sık görüldüğü bilinen anomalilerdendir. Çalışmamızda saptadığımız diğer anomalilerden -16, 17. kromozom anomalileri, -20 ve X ve Y anöploidileri de literatürde daha önce bildirilmiştir.

Anahtar Kelimeler: Aplastik anemi; sitogenetik
ABSTRACT
 Objective: Aplastic anemia (AA) is a haematological disorder charecterized by pansitopenia and hypocellular bone marrow without abnormal infiltration and no increase in reticulin. The disease may occur as congenital/inherited or acquired. In about 15% of patients with acquired AA, even after years of remission acquired with immunosuppressive therapies, bone marrow malignancies like myelodysplastic syndrome or acute myeloid leukemia (AML) appears. Cytogenetic studies on AA reveal structural and numerical abnormalities of different chromosomes in 12% of cases. The most common chromosomal abnormalities are deletion/monosomy of chromosome 7 and +8 in AA. 5q-,+6, t(8;21), deletion/monosomy of chromosome 13 and loss of Y chromosome are rarely observed. -7 is an indicator of poor prognosis, typically related with resistant cytopenia or AML. Good response to immunosuppressive therapies is reported with +8. Material and Methods: Cytogenetic abnormalities which were obtained by conventional karyotyping from bone marrow samples of 37 AA cases are presented. 24h and 48h culture and GTL banding were performed and, chromosomes were evaluated according to 'International System for Human Cytogenomic Nomenclature 2016'. Results: 32% of the cases had abnormal karyotypes. Abnormalities observed in our cases were; only -17 in two cases each;, -7,+8, -9, +10, -10, +11, -14, -16, del (17) (q11q21), -19, - 20,-21, del (22) (q13), inv(X)(p11p23), and loss of chromosome X and Y in one case each. In 5 cases tetraploid (±92) metaphases were observed. Conclusion: -7 and +8 that we observed in one cases each are known abnormalities as freqently seen in AA cases. And, -16, chromosome 17 abnormalities, -20, aneuploidies of X and Y were reported in literature before.

Keywords: Aplastic anemia; cytogenetic
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