Momen Nouran, Baysal Bora, Jani Sait Sheila, Tario Joseph, Qian You-Wen
Clinical & Chemical Pathology Department, Cairo University, Giza, Egypt.
Department of Pathology, Roswell Park Cancer Institute, 665 Elm Street, Buffalo, NY 14203, USA.
Case Rep Hematol. 2022 Jun 25;2022:9785588. doi: 10.1155/2022/9785588. eCollection 2022.
Chronic myeloid leukemia (CML) is a clonal hematopoietic stem cell disorder, characterized by reciprocal translocation (9,22) (q34; q11), leading to increased myeloid proliferation. Most cases are diagnosed in the chronic phase (CP). However, a minority of cases can be present in the blastic phase (BP). In most patients with CML-BP, the blasts have a myeloid phenotype, however, in 20-30% of cases, the blasts have a lymphoid phenotype, mostly a B-cell phenotype. It is challenging to differentiate CML B-lymphoblastic phase (CML-BLP) from Ph + primary B-acute lymphoblastic leukemia (B-ALL) especially when the CML-BLP is the initial presentation of the disease, which is uncommon. We report here an unusual case of CML-BLP as an initial presentation of the disease without typical CML morphological findings. This case demonstrates diagnostic challenges and emphasizes the importance of an integrated approach using morphology, multiparametric flow cytometry, cytogenetic studies, and molecular studies to render an accurate diagnosis.
慢性髓系白血病（CML）是一种克隆性造血干细胞疾病，其特征为（9；22）（q34；q11）相互易位，导致髓系增殖增加。大多数病例在慢性期（CP）被诊断出来。然而，少数病例可能处于急变期（BP）。在大多数慢性髓系白血病急变期（CML-BP）患者中，原始细胞具有髓系表型，然而，在20%-30%的病例中，原始细胞具有淋巴系表型，主要是B细胞表型。将慢性髓系白血病B淋巴细胞急变期（CML-BLP）与Ph+原发性B急性淋巴细胞白血病（B-ALL）区分开来具有挑战性，尤其是当CML-BLP是该疾病的首发表现时，这种情况并不常见。我们在此报告一例罕见的以CML-BLP作为疾病首发表现且无典型CML形态学特征的病例。该病例展示了诊断上的挑战，并强调了综合运用形态学、多参数流式细胞术、细胞遗传学研究和分子研究以做出准确诊断的重要性。
