New Variant Translocation (8;9;21)(q22;p24;q22) in a Patient with Granulocytic Sarcoma Concurrent with Acute Myeloid Leukemia  

作　　者：Gmidène Abir Wahchi Ines Meksi Sondes Jeddi Ramzi Meddeb Balkis Saad Ali Sennana Hlima 

机构地区：[1]Department of Cytogenetics and Reproductive Biology, Farhat Hached University Teaching Hospital, Sousse, Tunisia [2]Department of Hematology, Aziza Othmana University Teaching Hospital, Tunis, Tunisia

出　　处：《Open Journal of Blood Diseases》2014年第4期43-49,共7页血液病期刊（英文）

摘　　要：Granulocytic sarcoma is a form of acute myeloid leukemia which may occur in any anatomical site. Isolated pancreatic granulocytic sarcoma is however, extremely rare. Translocation t(8;21) is the most common cytogenetic abnormality found in leukemia patients with granulocytic sarcoma and is associated with a relatively good prognosis when treated with chemotherapy. Variants of the t(8;21) are uncommon and account for approximately 3% to 4% of acute myeloid leukemia associated with t(8;21) and are rarely described in acute myeloid leukemia cases associated with granulocytic sarcoma. We report here a patient with acute myeloid leukemia and a novel variant t(8;9;21)(q22;p24;q22) with suspected granulocytic sarcoma in pancreas. A dual-color fluorescence in situ hybridization analysis with RUNX1T1 and RUNX1 probes, revealed the presence of an RUNX1/RUNX1T1 fusion signal in this translocation. To the best of our knowledge, a variant of t(8;21) in GS was rarely described and the involvement of the 9q22 region is the first time described here even in isolated AML-M2. We conclude that further accumulation of similar cases is needed and that genetic exploring of variants of t(8;21) may be helpful for a better understanding of molecular pathogenetic mechanism.Granulocytic sarcoma is a form of acute myeloid leukemia which may occur in any anatomical site. Isolated pancreatic granulocytic sarcoma is however, extremely rare. Translocation t(8;21) is the most common cytogenetic abnormality found in leukemia patients with granulocytic sarcoma and is associated with a relatively good prognosis when treated with chemotherapy. Variants of the t(8;21) are uncommon and account for approximately 3% to 4% of acute myeloid leukemia associated with t(8;21) and are rarely described in acute myeloid leukemia cases associated with granulocytic sarcoma. We report here a patient with acute myeloid leukemia and a novel variant t(8;9;21)(q22;p24;q22) with suspected granulocytic sarcoma in pancreas. A dual-color fluorescence in situ hybridization analysis with RUNX1T1 and RUNX1 probes, revealed the presence of an RUNX1/RUNX1T1 fusion signal in this translocation. To the best of our knowledge, a variant of t(8;21) in GS was rarely described and the involvement of the 9q22 region is the first time described here even in isolated AML-M2. We conclude that further accumulation of similar cases is needed and that genetic exploring of variants of t(8;21) may be helpful for a better understanding of molecular pathogenetic mechanism.

关 键 词：Granulocytic SARCOMA AML-M2 t(8 9 21) Conventional KARYOTYPE FISH RUNX1/RUNX1T1 

分 类 号：R73[医药卫生—肿瘤]