Achkar Walid Al, Wafa Abdulsamad, Aljapawe Abdulmunim, Othman Moneeb Ak, Alhourani Eyad, Liehr Thomas
Department of Molecular Biology and Biotechnology, Human Genetics Division, Atomic Energy Commission, P,O, Box 6091, Damascus, Syria.
Mol Cytogenet. 2013 Aug 28;6(1):33. doi: 10.1186/1755-8166-6-33.
Plasma cell leukemia (PCL) is a rare lymphoproliferative disorder, accounting for 1-2% of all plasma cell neoplasms, characterized by the presence of >2 × 109/l of plasma cells circulating in the peripheral blood, and exists in two forms: primary PCL (pPCL, 60% of the cases), and secondary PCL (sPCL), the latter being a leukemic transformation in patients with a previously diagnosed multiple myeloma. PCL is an aggressive disease with poor prognosis and a short median survival of 7 months.
Here, we report a pPCL case with hepatosplenomegaly, anemia, thrombocytopenia, fever, fatigue, weight loss, and plasma cell count up to 60% in peripheral blood and 80% in bone marrow. Immunophenotype was compatible with PCL. A del(9)(p22.3) was characterized using banding cytogenetics and array-proven multicolor banding (aMCB), the latter being of enormous significance to characterize breakpoint regions in detail.
To the best of our knowledge, this is the first report of pPCL associated with a partially monosomy 9pter to 9p22.3 as a sole chromosomal abnormality.
浆细胞白血病（PCL）是一种罕见的淋巴增殖性疾病，占所有浆细胞肿瘤的1% - 2%，其特征为外周血中循环的浆细胞>2×10⁹/L，有两种形式：原发性PCL（pPCL，占病例的60%）和继发性PCL（sPCL），后者是先前诊断为多发性骨髓瘤的患者发生的白血病转化。PCL是一种侵袭性疾病，预后较差，中位生存期仅7个月。
在此，我们报告1例原发性PCL病例，患者有肝脾肿大、贫血、血小板减少、发热、疲劳、体重减轻，外周血浆细胞计数高达60%，骨髓中达80%。免疫表型与PCL相符。采用染色体显带技术和经阵列验证的多色显带技术（aMCB）鉴定出del(9)(p22.3)，后者对于详细鉴定断裂点区域具有重要意义。
据我们所知，这是首例报告的原发性PCL病例，其唯一的染色体异常为9号染色体短臂末端至9p22.3部分单体性。
