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Objective:To explore the clinical features and diagnosis methods of atypical chronic myeloid leukemia (aCML).Methods:The clinical data, bone marrow morphology, immunology, genetics and molecular biology characteristics of a young aCML patient in Nan'an Branch of the Second People's Hospital of Yibin City in Sichuan Province were analyzed.Results:The bone marrow smear showed that 0.875 of the granulocyte system showed obvious proliferation, accompanied by significant dysplasia and immature granulocytosis; blasts accounted for 0.170, and the intracytoplasmic granules of mature granulocytes were significantly increased and thickened. Bone marrow puncture biopsy showed bone marrow hyperplasia was extremely active, immature granulocytes were increased, and reticular fiber was extensively proliferated (marrow fibrosis grade 2-3); biopsy pathology results of left inguinal lymph node showed lymph node structure was destroyed, megakaryocytes and immature granulocytes could be seen in the background of histiocytes, in line with the marrow external hematopoiesis; bone marrow flow cytometry immunophenotype showed granulocyte population accounted for 81.6% of nuclear cells, abnormal expression of CD56 and CD14dim, abnormal growth pattern of granulocyte system; 30 common fusion genes in leukemia screening were negative. Polymerase chain reaction (PCR) method showed BCR-ABL1 fusion gene p210 type, BCR-ABL1 fusion gene p190 type, BCR-ABL1 fusion gene p230 type, CALR gene exon 9, JAK2 gene V617F mutation were all negative. Sanger sequencing showed MPL-W515 gene mutation, CSF3R gene exons 14 and 17, BRAF gene mutation, SRSF2 were all negative. Second-generation sequencing showed ASXL1 gene mutation was positive, NM_015338.5: c.2077C>T (p.R693*) and mutation frequency was 47.7%; U2AF1 gene mutation was positive: NM_006758.2: c.101C>A (p.S34V) and mutation frequency was 51%; PDGFRA, PDGFRB, SETBP1, SF3B1, STAT3, STAT5B were all negative. Karyotype analysis showed 47, XX, add(5)(q33), +8, -10, +mar[8]. The integrated examination was diagnosed as aCML with negative BCR-ABL1.Conclusions:The diagnosis of aCML with negative BCR-ABL1 depends on the comprehensive diagnosis of morphology, immunology, genetics and molecular biology. Second-generation sequencing is particularly important in the differential diagnosis and targeted drug therapy. Early diagnosis and treatment of young patients is extremely challenging and should be paid more attention for clinicians.
RESUMEN
Objective:To explore the relationship between the occurrence of thyroid nodules with normal thyroid function and age, sex, diet and thyroid related hormones.Methods:From February 2012 to November 2018, the data of 2 454 people who had thyroid nodule screening in Shijingshan Hospital of Beijing were analyzed retrospectively.All the data were classified and summarized to analyze the factors that may affect the occurrence of thyroid nodule.Results:In all 2 454 patients, 909 patients with Thyroid nodule were detected, the detection rate was 37.04%(909/2 454), the detection rate was 32.87%(164/499)in males and 38.11%(745/1 955) in females, which was significantly higher than that in males (χ 2=4.684, P=0.030). Multivariate Logistic regression analysis showed that gender ( OR 0.608, 95% P 0.0471-0.784), age ( OR 0.944, 95% CI 0.935-0.953), iodized salt intake ( OR 0.646, 95% CI 0.447-0.934), free triiodothyronine(FT)3 ( OR 1.562, 95% CI 1.374-1.775), free thyroxine (FT)4 ( OR 0.924, 95% CI 0.889-0.960), thyroid stimulating hormone(TSH) ( OR 1.111, 95% CI 1.059-1.167) (all P<0.05), were thyroid nodules independent risk factors of thyroid nodule.The seafood intake ( OR 0.867, 95% P 0.674-1.115, P=0.266) is not anindependent risk factor for thyroid nodules occur. Conclusion:The occurrence of thyroid nodule is closely related to many factors, among which gender, age, iodized salt intake, FT3, FT4 and TSH are the independent risk factors.