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Background/Aim: Acute undifferentiated leukemia (AUL) is leukemia which does not express lineage-specific antigens. Such cases are rare, accounting for 2.7% of all acute leukemia. The reported genetic information of AULs is limited to less than 100 cases with abnormal karyotypes and a few cases carrying chimeric genes or point mutation of a gene. We herein present the genetic findings and clinical features of a case of AUL. Case Report: Bone marrow cells obtained at diagnosis from a 31-year-old patient with AUL were genetically investigated. G-Banding karyotyping revealed an abnormal karyotype: 45,X,-Y,t(5;10)(q35;p12),del(12)(p13)[12]/46,XY[5]. Array comparative genomic hybridization examination confirmed the del(12)(p13) seen by G-banding but also detected additional losses from 1q, 17q, Xp, and Xq corresponding to the deletion of approximately 150 genes from these five chromosome arms. RNA sequencing detected six HNRNPH1::MLLT10 and four MLLT10::HNRNPH1 chimeric transcripts, later confirmed by reverse-transcription polymerase chain reaction together with Sanger sequencing. Fluorescence in situ hybridization analysis showed the presence of HNRNPH1::MLLT10 and MLLT10::HNRNPH1 chimeric genes. Conclusion: To the best of our knowledge, this is the first AUL in which a balanced t(5;10)(q35;p12) leading to fusion of HNRNPH1 with MLLT10 has been detected. The relative leukemogenic importance of the chimeras and gene losses cannot be reliably assessed, but both mechanisms were probably important in the development of AUL.

Additional file 2. Lansky/Karnofsky performance scale.

Additional file 3. Potential Hy's Law cases.

Additional file 5. Consent form.

Additional file 6. Supplementary Table 1.

Additional file 1. List of study sites and Ethical Committees that approved the study.

Additional file 4. Study information sheet.

Objectives The psychological effects of acute pulmonary embolism (PE) have scarcely been studied. The aims of this study were to evaluate health-related quality of life (HRQoL) in patients with a history of PE compared with that of the general population and buddy controls, and to explore factors that may predict impaired HRQoL. Design Cross-sectional. Setting Haematology and thrombosis unit in Fredrikstad, Norway. Participants 213 consecutive patients treated for PE were identified from hospital registries. Eligible patients were scheduled for a single study visit, including a functional capacity test (6 min walking test). HRQoL was assessed using the EuroQol 5D dimensions 3-level (EQ-5D-3L) questionnaire, of which the results were compared with Danish population norms and age-matched and sex-matched buddy controls. The buddy controls were recruited by asking every patient to hand over the EQ-5D questionnaire to 2 age-matched and sex-matched friends or relatives. Multivariable regression analyses were used to examine possible determinants of reduced HRQoL. Results Mean age was 61 years (SD 15), 117 (55%) were males, and median time since diagnosis was 3.8 years (range 0.3–9.5). Mean EuroQol visual analogue scale (EQ VAS) was 67 in PE as compared with 81 in the general population (p

Background: Venous thrombosis (VT) is among the leading causes of maternal mortality in countries with high standards of perinatal care; however the long-term outcomes of pregnancy-related VT are unknown. Aims: To assess the long-term prevalence of post-thrombotic syndrome (PTS), a frequently occurring chronic complication after deep vein thrombosis (DVT), to identify possible predictors for PTS, and to evaluate disease specific quality of life (QOL) after pregnancy-related DVT as compared with a control group. We also aimed to assess the mortality and incidence of cancer after VT in this population. Materials and Methods: The Norwegian Patient Register and the Medical Birth Registry of Norway were used to identify cases of women with a first-ever pregnancy-related VT during 1990-2003 from 18 Norwegian hospitals. Women without VT matched for time of delivery were selected by the Medical Birth Registry as controls. All VTs were validated using the hospital medical records. Total 559 cases and 1229 controls were identified and were invited to answer a comprehensive questionnaire. 313 cases and 353 controls met to participate in 2006. The questionnaire included self-reported Villalta score for the assessment of PTS and the disease specific QOL questionnaire VEINES-QOL/Sym. In 2012, the original study population of 1788 women was linked to the Norwegian Cause of Death Registry and the Cancer Registry of Norway. Results: PTS was found in 42% of 204 women 3-16 years after a lower limb pregnancy-related DVT. Proximal DVT when occurring postnatal was the most important predictor for PTS. Higher age and smoking were also independently associated with PTS. Women with DVT reported reduced disease specific QOL compared with controls. Ten cases (1.8%) and 7 controls (0.6%) died during 13 years of follow-up. Mortality was significantly higher among cases compared with controls (hazard ratio 3.2, 95% confidence interval 1.2-8.5, P=0.018 when adjusted for age). The mortality among cases was also 19 times higher than among the age-adjusted Norwegian female population the first year after VT (standardized mortality ratio (SMR) 18.8, 95% CI 7.8-45.3), but thereafter the mortality was similar (SMR 0.9, 95% CI 0.4-2.0). Fifteen cases (2.7%) and 13 controls (1.1%) were diagnosed with cancer after index pregnancy and subsequent cancer was significantly more frequent among cases compared with controls (hazard ratio 2.6, 95% CI 1.3-5.6, p=0.011). Cases did not have higher incidence of cancer when comparing with the age-and sex-adjusted general population (standardized incidence ratio 1.0, 95% CI 0.6-1.7). Conclusions: PTS was a common long-term complication after pregnancy-related DVT affecting almost half of the women and disease specific QOL in this population was reduced compared with a control group. Cases had significantly higher mortality and incidence of cancer than controls during 13 years of follow-up. When comparing with the age-adjusted Norwegian female population, mortality was increased only the first year after VT and incidence of cancer was similar.