Background Chronic myelomonocytic leukemia (CMML) is a rare and heterogeneous hematological malignancy. It has been shown that the molecular abnormalities such as ASXL1, TET2, SETBP1, and SRSF2 mutations are common in Caucasian population. Methods We retrospectively analyzed 178 Chinese CMML patients. The targeted next generation sequencing (NGS) was used to evaluate 114 gene variations, and the prognostic factors for OS were determined by COX regression analysis. Results The CMML patients showed a unique mutational spectrum, including TET2 (36.5%), NRAS (31.5%), ASXL1 (28.7%), SRSF2 (24.7%), and RUNX1 (21.9%). Of the 102 patients with clonal analysis, the ancestral events preferentially occurred in TET2 (18.5%), splicing factors (16.5%), RAS (14.0%), and ASXL1 (7.8%), and the subclonal genes were mainly ASXL1, TET2, and RAS. In addition, the secondary acute myeloid leukemia (sAML) transformed from CMML often had mutations in DNMT3A, ETV6, FLT3, and NPM1, while the primary AML (pAML) demonstrated more mutations in CEBPA, DNMT3A, FLT3, IDH1/2, NPM1, and WT1. It was of note that a series of clones were emerged during the progression from CMML to AML, including DNMT3A, FLT3, and NPM1. By univariate analysis, ASXL1 mutation, intermediate- and high-risk cytogenetic abnormality, CMML-specific prognostic scoring system (CPSS) stratifications (intermediate-2 and high group), and treatment options (best supportive care) predicted for worse OS. Multivariate analysis revealed a similar outcome. Conclusions The common mutations in Chinese CMML patients included epigenetic modifiers (TET2 and ASXL1), signaling transduction pathway components (NRAS), and splicing factor (SRSF2). The CMML patients with DNMT3A, ETV6, FLT3, and NPM1 mutations tended to progress to sAML. ASXL1 mutation and therapeutic modalities were independent prognostic factors for CMML.

Background:Overexpression and constitutive activation of signal transducer and activator of transcription (STAT) 3 have been suggested in the tumorigenesis of many human cancers, including multiple carcinomas, melanoma, and lymphoma. The diagnosis of hepatocellular carcinoma (HCC) in lobectomy specimens is usually straightforward, but distinguishing cirrhosis from well-differentiated HCC can be challenging in core biopsies. Our aims were to investigate the expression level of STAT3 and phosphorylated STAT3 (pSTAT3) in HCC and cirrhosis, and the application of STAT3 in the differential diagnosis of HCC and cirrhosis.Methods:Sixty cases were divided into three groups: patients with HCC only (Group 1), HCC and cirrhosis (Group 2), and cirrhosis only (Group 3). Formalin-fixed and paraffin-embedded tissue sections were stained immunohistochemically for STAT3, pSTAT3, and CD163. The values obtained from the tissue sections of each group were compared in statistical analysis.Results:STAT3 showed a high level in HCC and was a significant marker for differentiating HCC from cirrhosis (P < 0.0001). The odds ratio between HCC and cirrhosis increased 34.4 times when the intensity of STAT3 increased by 1 level. Spearman's correlation and Chi-square tests also demonstrated that expression level of STAT3 did not correlate with age, gender, or the presence of a cirrhotic background.Conclusions:STAT3 staining differs significantly in HCC and cirrhosis. The findings reinforce the role of STAT3 in the tumorigenesis of HCC and provide a useful marker to differentiate HCC from cirrhosis in challenging liver biopsies.

5q syndrome is a variant of myelodysplastic syndrome (MDS) defined by sole genetic abnormality, del(5)(q13q33), macrocytic anemia, fewer than 5% blasts in blood or bone marrow, no Auer rods, and characteristic dysplastic megakaryocytes. The 5q syndrome has an estimated prevalence of 2.55% among all MDS in China. We searched our archives between 1989 and 2011 and identified 19 cases with sole 5q deletion and complete medical data, including bone marrow biopsies and aspirate smears, peripheral blood smears, and cytogenetic results. The patients included 14 women and 5 men with a median age of 62 years (range, 35-77 years). All patients had anemia (100%) with 80% of macrocytic anemia. In addition, 30% of patients had 2-lineage cytopenia, and 20% had pancytopenia. Bone marrow displayed hypercellularity in 84% of cases (16/19) with dysplastic megakaryocytes. Two cases were misdiagnosed as aplastic anemia. While two thirds of cases had similar pathologic and clinical features as defined in the WHO classification, one third of them have some uncommon findings, including dysplasia in more than 1 lineage or unremarkable morphology, pure erythroid dysplasia, thrombocytopenia, and hypocellularity in bone marrow. Based on available data, no patients developed acute leukemia. Our studies present some uncommon findings of 5q syndrome in a Chinese population. Category:Hematopathology

A collision tumor in the central nervous system (CNS) is a rare entity. We report a case of a collision tumor with primary CNS lymphoma and astrocytoma in an otherwise healthy young male and the diagnostic challenge associated with it. The tumor showed 2 histologic patterns.The predominant component consisted of anaplastic astrocytoma with gemistocytic appearance, and the lymphoma cells were kappa restricted B cells with variable cell sizes and some plasmacytoid differentiation. In situ hybridization demonstrated that the lymphoma cells were Epstein-Barr virus (EBV) positive.The patient was neurologically asymptomatic for 2 and half years following surgery, chemotherapy, and radiation.