STRUCTURAL ABERRATIONS OF 1p36 IN HEMATOLOGIC MALIGNANCIES

Öz

Objective: Structural aberrations of 1p36 are very common in most hematologic malignancies. 1p36 consists of genes that are important in oncogenesis. The aim of this study was to define 1p36 abnormalities and their distributions within different hematologic malignancies. Materials and Methods: To achieve this goal, we retrospectively evaluated the cytogenetic results of our hematological cancer cases. Result: We found deletions or rearrangements of breakpoint 1p36 in 18 patients with various hematologic malignancies, including myelodysplastic syndrome (MDS), acute myeloid leukemia (AML), multiple myeloma (MM), chronic myeloid leukemia (CML), lymphoma, B cell acute lymphoblastic leukemia (B-ALL), idiopathic thrombocytopenic purpura (ITP) and aplastic anemia (AA). We observed t(1;3)(p36;p21) in one AML-M2 patient and t(1;3)(p36;q21) in two CML patients. Eight patients (1 MDS, 2 MM, 3 CML, 1 AML, and 1 AA) had translocations and rearrangements. One ITP patient had der(1)t(1;1)(p36;q21) and another CML patient had der(1)t(1;1)(p36;q12). We demonstrated several terminal deletions with different breakpoints between 1p11 and 1p36 in five patients, (2 MDS, 2 lymphomas, and 1 B cell acute lymphocytic leukemia). Conclusion: The 1p36 breakpoint is a hot spot for cancer-related chromosome rearrangements and is associated with poor prognosis. In order to emphasize the importance of 1p36 in hematologic malignancies it essential to build a large data pool on the subject. The distribution of breakpoints in 1p abnormalities in our series was remarkable, as 12 out of 18 1p breakpoints were 1p36. However, while 1p breakpoints aggregated on 1p36 in all translocations, there was only one 1p36 breakpoint in five deletions. With this paper, we contribute to the relevant literature by reporting our results.

Anahtar Kelimeler

• 1p36
• leukemia
• lymphoid malignancies
• myeloid malignancies
• cytogenetics
• bone marrow

HEMATOLOJİK KANSERLERDE 1p36’NIN YAPISAL ANOMALİLERİ

Öz

Amaç: 1p36 bölgesinin yapı anomalileri bir çok hematolojik kanserde oldukça yaygındır. 1p36 bölgesi, kanser gelişiminde etkili olan önemli genlere sahiptir. Bu çalışmanın amacı, olgularımıza ait 1p36 anomalilerini ve farklı hematolojik kanserlerdeki dağılımlarını belirtmektir. Gereç ve Yöntem: Bu çalışma için hematolojik kanser olgularımızın sitogenetik sonuçları retrospektif olarak değerlendirilmiştir. Bulgular: Myelodisplastik sendrom (MDS), akut myeloid lösemi (AML), multipl myelom (MM), kronik myeloid lösemi (KML), lenfoma, B hücreli akut lenfoblastik lösemi (B-ALL), idyopatik trombositopenik purpura (ITP) ve aplastik anemi (AA) hastası olmak üzere 18 farklı hematolojik kanser olgusunda 1p36 kırık noktasına ait delesyon ya da yeniden düzenlenmeler saptanmıştır. Bir AML-M2 hastasında t(1;3)(p36;p21) ve iki KML hastasında t(1;3) (p36;q21) gözlemlenirken, sekiz hastada (1 MDS, 2 MM, 3 KML, 1 AML and 1 AA) translokasyon ve yeniden düzenlenmeler tespit edilmiştir. Bir ITP hastası der(1)t(1;1)(p36;q21) ve bir KML hastasında ise der(1)t(1;1)(p36;q12) kromozom yapısı saptanmıştır. Beş hastada (2 MDS, 2 lenfoma, ve 1 B hücreli akut lenfositik lösemi) 1p11 ve 1p36 arasındaki farklı kırık noktalarında çeşitli terminal delesyonlar gözlenmiştir. Sonuç: 1p36 kanserle ilişkili kromozom yeniden düzenlemeler için sıcak noktadır ve kötü prognozla ilişkilendirilmektedir. 1p36 bölgesinin hematolojik kanserlerdeki önemini vurgulamak için, konuyla ilgili geniş bir veri havuzu oluşturmak önemlidir. Serimizdeki 1p36 anomalilerinin dağılımı, 18 hastanın 12’sinde 1p kırık noktasının 1p36 olması nedeniyle dikkat çekicidir. Bu çalışma ile sonuçlarımızı sunarak bu alandaki literatüre katkı sağlayacağımızı düşünmekteyiz.

Anahtar Kelimeler

• 1p36
• lösemi
• lenfoid kanserler
• myeloid kanserler
• sitogenetik
• kemik iliği

Kaynakça

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