Lymph Node Enlargement As The Initial Presentation Of Rare BCR/ABL1 Chronic Myeloid Leukemia A Case Report And Literature Review

Objective:To study the clinical features and curative effect of rare BCR/ABL1 chronic myeloid leukemia(CML)with lymph node enlargement asthe initial presentation,and improve the understanding of this type of chronic myeloid leukemia(CML),and achieve early diagnosis,early treatment.Methods:The clinical manifestation,laboratory examination,treatment and prognosis of a patient with rare BCR/ABL1 chronic myeloid leukemia in our hospital were analyzed retrospectively in our study and was discussed on the basis of the review of relevant literature at home and abroad.Design:Case report.Results:The clinical characteristics of this patient:1.young male;2.Acute onset,short course;3.Cervical lymph node enlargement,splenomegaly were the main clinical manifestations;4.Peripheral white blood cell increased;5.Fluorescence in situ hybridization(FISH)showed BCR/ABL(+),e8a2 BCR/ABL1 transcript expression of PCR;6.Chromosome karyotype showed 46,XY,t(9,22)(q34,q11);7.Pathological typing of lymph nodes suggests that chronic myelogenous leukemia is involved in lymph nodes;8.Effect of Imatinib is poor,progress rapidly.Conclusions:(1)Chronic myeloid leukemia with e8a2 BCR/ABL fusion gene type is rare,for BCR/ABL positive patients that the detection of the BCR/ABL fusion gene is negative in all the 3 kinds of conventional detection,the detection of rare BCR/ABL 1 should be considered.(2)For chronic myeloid leukemia that lymph node enlargement as the first symptom,histopathological and immunohistochemical examination should be done as early as possible and confirm the existence of Philadelphia chromosome or BCR/ABL in the primary cells.(3)extramedullary blast crisis of chronic myelogenous leukemia(CML-EBC)should.be distinguished from lymphoma to avoid misdiagnosis and delay treatment.(4)For poor prognosis of CML-EBC,and If the conditions permit we should consider the treatment of tyrosine kinase inhibitor as early as possible,and observe the change of the disease closely,and offered stem cell transplant early if eligible for this procedure.