Coexistence of breakpoint cluster region-Abelson1 rearrangement and Janus kinase 2 V617F mutation in chronic myeloid leukemia: A case report

BACKGROUND The Janus kinase 2(JAK2) V617 F mutation is common in patients with breakpoint cluster region-Abelson1(BCR-ABL1)-negative myeloproliferative neoplasms,including polycythemia vera, essential thrombocythemia and primary myelofibrosis, but is rarely detected in BCR-ABL1-positive chronic myeloid leukemia(CML) patients. Here, we report a CML patient with both a BCR-ABL1 rearrangement and JAK2 V617 F mutation.CASE SUMMARY A 45-year-old Chinese woman was admitted to our department with a history of significant thrombocytosis for 20 d. Color Doppler ultrasound examination showed mild splenomegaly. Bone marrow aspiration revealed a karyotype of 46,XX, t(9;22)(q34;q11.2) in 20/20 metaphases by cytogenetic analysis,rearrangement of BCR-ABL1(32.31%) by fluorescent polymerase chain reaction(PCR) and mutation of JAK2 V617 F(10%) by PCR and Sanger DNA sequencing.The patient was diagnosed with CML and JAK2 V617 F mutation. Following treatment with imatinib for 3 mo, the patient had an optimal response and BCRABL1(IS) was 0.143%, while the mutation rate of JAK2 V617 F rose to 15%.CONCLUSION Emphasis should be placed on the detection of JAK2 mutation when CML is diagnosed to distinguish JAK2 mutation-positive CML and formulate treatment strategies.     

Shift in phenotype of acute T-lymphocytic leukemia to eosinophilic leukemia: a case report

Acute T-lymphocytic leukemia diagnosed in a 14-year old boy on the basis of typical cell morphology, as well as by membrane antigen analysis with monoclonal antibodies, shifted to the phenotype of an acute eosinophilic leukemia 5 months after the initiation of chemotherapy. The transformation was evident by a change in morphology of cells derived from bone marrow aspirates, by cytochemistry and by a shift in the membrane antigen pattern.     

A rare case of non-traumatic intrasplenic pseudoaneurysms in a patient with acute T-cell lymphoblastic leukemia

Pseudoaneurysm (PSA) or false aneurysm is a vascular lesion resulting from a focal and incomplete rupture of the arterial wall (intimate and/or elastic lamina), that allows blood to escape into the arterial wall; this small contained break causes a contained collection of blood and the creation of a “new” less resistant vessel wall, consisting of adventitia and perivascular tissues. Intrasplenic pseudoaneurysms are rare and more frequently recognize traumatic origin, sometimes are also unexpected lesions due to non-recent trauma. In contrast, non-traumatic intrasplenic pseudoaneurysms are rare complications usually due to splenic infarction, infiltration by malignant systemic disorders, infectious process, chronic pancreatitis, and arteritis. Both traumatic and non-traumatic PSA are potentially life threatening, known to cause spontaneous rupture of the spleen with massive hemoperitoneum. Contrast-enhanced CT is the gold standard technique to detect splenic PSA; however, it is important to know how to recognize it also with other imaging methods such as with ultrasound (US) and contrast-enhanced ultrasound (CEUS). US and CEUS can be often the first-line diagnostic techniques and allow to detect these lesions; they are also very useful in the follow-up. Our case report can be a reminder of the utility of the US and CEUS in detecting splenic pseudoaneurysms, which are potentially a life-threatening complication; we also recall the semiotics of these lesions with baseline ultrasound (US), color Doppler US and contrast-enhanced ultrasound (CEUS). Then, we highlight the role of contrast-enhanced CT in confirming the diagnosis and we report about the diagnostic and therapeutic value of angiography. We have to think about the possibility of a pseudoaneurysm even in the absence of a recent trauma, associated with other conditions such as a lymphoproliferative disease.     

胃癌合并慢性淋巴细胞白血病一例

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SF3B1 mutation is a rare event in Chinese patients with acute and chronic myeloid leukemia

ObjectiveSomatic mutations of SF3B1 gene have recently been identified in myelodysplastic syndrome and chronic lymphocytic leukemia. The frequency and clinical relevance of SF3B1 mutations have been rarely studied in acute myeloid leukemia (AML) and chronic myeloid leukemia (CML). The present study was aimed to analyze the frequency of SF3B1 mutations in AML and CML.Designs and methodsHigh-resolution melting analysis (HRMA) was established to detect the mutation hotspots (codon E622, H662, K666, and K700) of SF3B1 gene in 275 AML and 81 CML patients.ResultsHeterozygous SF3B1 mutations were detected in three AML patients by HRMA. Direct DNA sequencing identified one K666T, one K666N and one K700E mutations. All three AML patients had normal karyotypes. One case also had NPM1 and DNMT3A mutations, one had FLT3 internal tandem duplication and DNMT3A mutations, and the other had NPM1 mutation. No SF3B1 mutations were detected in CML patients.ConclusionsSF3B1 mutation is a rare molecular event in Chinese AML and CML patients.     

Abnormal eosinophils with immature eosinophilic granules in chronic myeloid leukemia in accelerated phase

Abnormal eosinophils with immature eosinophilic granules are typically observed in acute myeloid leukemia with inv (16) (p13.1q22) or t (16;16) (p13.1;q22) but can also be seen in chronic myeloid leukemia without inv (16) or t (16;16).     

1例慢性粒细胞白血病伴Sweet综合征的护理

Sweet综合征（Sweet’s syndrome,SS）又称急性发热性嗜中性皮病（acute febrile neutrophilic dermatosis）,1964年由 Robert Dougias Sweet首先提出[1]。本病发病机制不明,可能与特发性或与肿瘤、自身免疫病、感染妊娠、药物等有关,10%~20%的Sweet综合征病人合并潜在的恶性疾病,这些恶性疾病中85%为血液系统肿瘤。最常见的血液恶性肿瘤为急性髓性白血病和骨髓增生异常综合征[2]。Sweet综合征主要表现为发热、皮疹,发热可出现在皮疹前数天至数周,或与皮疹同时发生。典型皮损为痛性隆起的结节红斑,当合并血液病时上肢累及常见,且皮疹常不典型,可表现为脓包的皮损或溃疡,并可逐渐扩大融合成片[3,4]。现将我科收治的1例慢性粒细胞白血病伴 Sweet综合征的护理总结报道如下。     

骨髓增生异常综合征转为急性嗜酸粒细胞白血病1例并文献复习

目的观察急性嗜酸粒细胞白血病(AEL)的形态特征、遗传特征、免疫表型及分子标记特征以提高对AEL的认识。方法对我院收治的1例难治性血细胞减少伴多系发育异常(MDS-RCMD)转为AEL患者的病历资料进行回顾性总结并复习相关文献。结果该例MDS-RCMD患者12个月后转为AEL;骨髓原始细胞占10.4%,嗜酸粒细胞占70.8%,其中嗜酸性早、中、晚幼粒细胞占69.6%;外周血嗜酸粒细胞占13.5%;骨髓原始细胞伴有复杂染色体异常、CD34、CD117、HLD-DR、CD33、CD38、CD13等阳性表达;FI1L1/PDGFRα和ETV6/PDGFRα融合基因阴性。按AML治疗2个月后患者死亡。结论该例AEL患者FI1L1/PDGFRα和ETV6/PDGFRα基因重排阴性,伊马替尼治疗无效。     

A rare case of a prostatic abscess,bacteremia and chronic granulomatous disease associated with Klebsiella pneumoniae

Chronic granulomatous disease (CGD) is a primary immunodeficiency disease characterized by severe recurrent infections such as pneumonia, liver and skin infections. However, prostatic abscesses are rare as only two cases have been reported thus far. We present the case of a 41-year-old patient with CGD who was admitted to the hospital with fever and subsequently, Klebsiella pneumoniae was identified on blood culture. Abdominal computed tomography revealed a prostatic abscess. He improved with intravenous antibiotics and drainage of the abscess. After he was taken off the intravenous antibiotics and started on an oral agent, he was discharged from the hospital. We confirmed a reduction in the prostatic abscess size and continued the antibiotic therapy for 52 days. A prostatic abscess is an uncommon disease being diagnosed at a median age of 49 years. Sometimes it is discovered in patients with fever of unknown origin and might be considered as an infection site of CGD patients.