hematologic diseases


Summary: Disorders of the blood and blood forming tissues.

Top Publications

  1. Miyake N, Mizuno S, Okamoto N, Ohashi H, Shiina M, Ogata K, et al. KDM6A point mutations cause Kabuki syndrome. Hum Mutat. 2013;34:108-10 pubmed publisher
    ..In this study, we investigated KDM6A in 32 KS patients without an MLL2 mutation. We identified two nonsense mutations and one 3-bp deletion of KDM6A in three KS cases. This is the first report of KDM6A point mutations associated with KS...
  2. Ellett F, Lieschke G. Zebrafish as a model for vertebrate hematopoiesis. Curr Opin Pharmacol. 2010;10:563-70 pubmed publisher
    ..This review highlights key recent studies that have used this model to provide insights into vertebrate hematopoietic development and innate immunity. ..
  3. Li Y, Bögershausen N, Alanay Y, Simsek Kiper P, Plume N, Keupp K, et al. A mutation screen in patients with Kabuki syndrome. Hum Genet. 2011;130:715-24 pubmed publisher
    ..Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity...
  4. Rocha V, Gluckman E. Improving outcomes of cord blood transplantation: HLA matching, cell dose and other graft- and transplantation-related factors. Br J Haematol. 2009;147:262-74 pubmed publisher
    ..This review will focus on the interactions between HLA, cell dose and other modifiable factors related to the UCB unit selection and transplantation that may improve outcomes after UCB transplantation. ..
  5. Bhat A, Davenport J, Cocalis M. Partial anomalous left pulmonary artery along with aortic coarctation in an infant with Kabuki syndrome. Echocardiography. 2012;29:E145-7 pubmed publisher
    ..While coarctation and hypoplastic left heart syndrome are observed in this syndrome, this is the second reported case of aLPA in KS and the first with the forme fruste of left-sided obstruction as well as aLPA in this group of patients...
  6. Hannibal M, Buckingham K, Ng S, Ming J, Beck A, McMillin M, et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A. 2011;155A:1511-6 pubmed publisher
    ..These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome. ..
  7. Micale L, Augello B, Fusco C, Selicorni A, Loviglio M, Silengo M, et al. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis. 2011;6:38 pubmed publisher
    ..Recently mutations in the histone methyl transferase MLL2 gene have been identified as its underlying cause...
  8. Delaney C, Ratajczak M, Laughlin M. Strategies to enhance umbilical cord blood stem cell engraftment in adult patients. Expert Rev Hematol. 2010;3:273-83 pubmed publisher
    ..hematopoietic stem cells (HSCs) for allogeneic transplantation in children and adults in the treatment of hematologic diseases. However, compared with marrow or mobilized peripheral blood stem cell grafts from adult donors, ..
  9. Zini G, Bain B, Bettelheim P, Cortez J, D Onofrio G, Faber E, et al. A European consensus report on blood cell identification: terminology utilized and morphological diagnosis concordance among 28 experts from 17 countries within the European LeukemiaNet network WP10, on behalf of the ELN Morphology Faculty. Br J Haematol. 2010;151:359-64 pubmed publisher
    ..Moreover, this collective work resulted in the production of a consensus statement, taking into account individual practices, collegial agreement and literature data. ..

More Information


  1. Paulussen A, Stegmann A, Blok M, Tserpelis D, Posma Velter C, Detisch Y, et al. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat. 2011;32:E2018-25 pubmed publisher
    ..0040) when comparing KS patients with an MLL2 mutation compared to patients without a mutation. Our data double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS...
  2. Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, et al. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet. 2012;20:381-8 pubmed publisher
    ..Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients...
  3. Lederer D, Grisart B, Digilio M, Benoit V, Crespin M, Ghariani S, et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet. 2012;90:119-24 pubmed publisher
    ..This study identifies KDM6A mutations as another cause of KS and highlights the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes...
  4. Casado F, Singh K, Gasiewicz T. The aryl hydrocarbon receptor: regulation of hematopoiesis and involvement in the progression of blood diseases. Blood Cells Mol Dis. 2010;44:199-206 pubmed publisher
    ..Studies highlighting AhR regulation of HSCs/HPCs provide a rational framework to understand their biology, a role of the AhR in hematopoietic diseases, and a means to develop interventions for these diseases. ..
  5. Zhao W, Gao R, Lee J, Xing S, Ho W, Fu X, et al. Relevance of JAK2V617F positivity to hematological diseases--survey of samples from a clinical genetics laboratory. J Hematol Oncol. 2011;4:4 pubmed publisher
    ..The data also indicate that the nested allele-specific PCR method provides clinically relevant information and should be conducted for all cases suspected of having MPNs as well as for other related diseases. ..
  6. Carradice D, Lieschke G. Zebrafish in hematology: sushi or science?. Blood. 2008;111:3331-42 pubmed publisher
    ..Despite some limitations and challenges, their successes and discovery potential mean that zebrafish are here to stay in hematology research. ..
  7. Pesciotta E, Sriswasdi S, Tang H, Mason P, Bessler M, Speicher D. A label-free proteome analysis strategy for identifying quantitative changes in erythrocyte membranes induced by red cell disorders. J Proteomics. 2012;76 Spec No.:194-202 pubmed publisher
    ..This article is part of a Special Issue entitled: Integrated omics. ..
  8. Mustea A, Koensgen D, Belau A, Sehouli J, Lichtenegger W, Schneidewind L, et al. Adjuvant sequential chemoradiation therapy in high-risk endometrial cancer: results of a prospective, multicenter phase-II study of the NOGGO (North-Eastern German Society of Gynaecological Oncology). Cancer Chemother Pharmacol. 2013;72:975-83 pubmed publisher
    ..Two-year median PFS and OS rates were both 75.8 %. Adjuvant combination CT with P + C and sequential RT is well tolerated and a feasible regimen in patients with HREC. Subsequent phase-III trials are warranted. ..
  9. Yue L, Shao Z. Research progress on the red cell diseases in China. Chin Med J (Engl). 2012;125:2746-51 pubmed
  10. Kafina M, Paw B. Using the Zebrafish as an Approach to Examine the Mechanisms of Vertebrate Erythropoiesis. Methods Mol Biol. 2018;1698:11-36 pubmed publisher
    ..The applications of zebrafish methodology to the study of erythropoiesis and optimized step-by-step protocols are discussed in this chapter. ..
  11. Chiappella A, Martelli M, Angelucci E, Brusamolino E, Evangelista A, Carella A, et al. Rituximab-dose-dense chemotherapy with or without high-dose chemotherapy plus autologous stem-cell transplantation in high-risk diffuse large B-cell lymphoma (DLCL04): final results of a multicentre, open-label, randomised, controlled, phase 3 study. Lancet Oncol. 2017;18:1076-1088 pubmed publisher
    ..These results do not support further consideration of the use of intensification of R-CHOP as an upfront strategy in patients with diffuse large B-cell lymphoma with poor prognosis. Fondazione Italiana Linfomi. ..
  12. Sárová I, Brezinova J, Zemanova Z, Ransdorfova S, Izáková S, Svobodova K, et al. Molecular cytogenetic analysis of dicentric chromosomes in acute myeloid leukemia. Leuk Res. 2016;43:51-7 pubmed publisher
    ..Our study indicates an association between number of DCs in karyotype and very short survival of patients. ..
  13. Dasgupta A, Saxena R. Regulatory T cells: a review. Natl Med J India. 2012;25:341-51 pubmed
    ..This overview provides a framework for integrating these concepts of basic and translational research. ..
  14. Savage M. Communicating with haematology patients: a reflective account. Nurs Stand. 2013;28:37-43 pubmed publisher
    ..Using an example from my practice experience, this article aims to highlight the importance of communication, reflection and knowledge in nursing practice. ..
  15. Said S, Reynolds C, Jimenez R, Chen B, Vrana J, Theis J, et al. Amyloidosis of the breast: predominantly AL type and over half have concurrent breast hematologic disorders. Mod Pathol. 2013;26:232-8 pubmed publisher
    ..Therefore, further work up to rule out hematologic malignancy and/or systemic amyloidosis is recommended. Mass spectrometry-based proteomics is superior to immunohistochemistry for typing of breast amyloidosis. ..
  16. Pant V, Quintas Cardama A, Lozano G. The p53 pathway in hematopoiesis: lessons from mouse models, implications for humans. Blood. 2012;120:5118-27 pubmed publisher
    ..Here we summarize some of these models, the various mechanisms that disrupt the regulation of p53 activity, and their relevance to human disease. ..
  17. Gilles R, Herling M, Holtick U, Heger E, Awerkiew S, Fish I, et al. Dynamics of Torque Teno virus viremia could predict risk of complications after allogeneic hematopoietic stem cell transplantation. Med Microbiol Immunol. 2017;206:355-362 pubmed publisher
    ..Prospective studies, including the monitoring of lymphocyte subsets, are required to define the potential use of TTV in immunological monitoring after allo-HSCT. ..
  18. Chen C, Liu Y, Hua M, Li X, Ji C, Ma D. Neuropathy correlated with imbalanced Foxp3/IL-17 in bone marrow microenvironment of patients with acute myeloid leukemia. Oncotarget. 2016;7:24455-65 pubmed publisher
    ..It also can induce the impairment of normal hematopoiesis and promote the development of hematologic diseases. In the present study, we determined the expression levels and clinical significances of nerve-related ..
  19. Xu C, Chang Z, Wang X, Qi H. Doublets versus single-agent therapy as first-line therapy for elderly patients with advanced non-small cell lung cancer? A systematic review of randomised controlled trials. Int J Clin Pract. 2013;67:1118-27 pubmed publisher
    ..Doublets appear to be more effective and tolerable than single-agent therapy for treating elderly advanced NSCLC patients, and therefore could be considered as a treatment option for elderly populations with good physical status. ..
  20. Ziske J, Kunz A, Sewangi J, Lau I, Dugange F, Hauser A, et al. Hematological changes in women and infants exposed to an AZT-containing regimen for prevention of mother-to-child-transmission of HIV in Tanzania. PLoS ONE. 2013;8:e55633 pubmed publisher
    ..Research involving larger cohorts is needed to further analyze the impact of AZT-containing regimens on maternal and infant health. ..
  21. Wei W, Chen X, Ma X, Wang D, Guo Z. The efficacy and safety of various dose-dense regimens of temozolomide for recurrent high-grade glioma: a systematic review with meta-analysis. J Neurooncol. 2015;125:339-49 pubmed publisher
    ..5 % (95 % CI 45.5-92.7 %), which was the highest among the four regimens. Recurrent HGG patients receiving personalized treatment should be closely followed up, especially those with concurrent hematological diseases. ..
  22. Dale D, Mackey M. Understanding, treating and avoiding hematological disease: better medicine through mathematics?. Bull Math Biol. 2015;77:739-57 pubmed publisher
    ..It's also a story of their efforts to offer effective treatments for the patients who suffer from cyclic neutropenia and other conditions causing neutropenia and infections. ..
  23. Inamoto Y, Lee S. Late effects of blood and marrow transplantation. Haematologica. 2017;102:614-625 pubmed publisher
    Hematopoietic cell transplantation is a curative treatment for a variety of hematologic diseases. Advances in transplantation technology have reduced early transplant-related mortality and expanded application of transplantation to older ..
  24. Cruz M, Farooq S, Testai F. Neurological and Neurosurgical Emergencies in Patients with Hematological Disorders. Curr Neurol Neurosci Rep. 2017;17:24 pubmed publisher
    b>Hematologic diseases are blood disorders which can affect different organs, including the central and peripheral nervous systems. Some of them are associated with increased risk of permanent disability and death...
  25. Williamson D, Lesur O, Tetrault J, Nault V, Pilon D. Thrombocytopenia in the critically ill: prevalence, incidence, risk factors, and clinical outcomes. Can J Anaesth. 2013;60:641-51 pubmed publisher
    ..Thrombocytopenia in the ICU is associated with an independent risk of mortality that varies greatly depending on diagnostic admission category. ..
  26. An N, Kraft A, Kang Y. Abnormal hematopoietic phenotypes in Pim kinase triple knockout mice. J Hematol Oncol. 2013;6:12 pubmed publisher
    ..Pim kinases are not only essential in the hematopoietic lineage cell development, but also important in HSC expansion, self-renewal, and long-term repopulation. ..
  27. Vanazzi A, Grana C, Crosta C, Pruneri G, Rizzo S, Radice D, et al. Efficacy of ??Yttrium-ibritumomab tiuxetan in relapsed/refractory extranodal marginal-zone lymphoma. Hematol Oncol. 2014;32:10-5 pubmed publisher
    ..These results suggest that radioimmunotherapy could represent a possible option for the treatment in this subset of patients. ..
  28. Sabel A, Gaudiani J, Statland B, Mehler P. Hematological abnormalities in severe anorexia nervosa. Ann Hematol. 2013;92:605-13 pubmed publisher
    ..Improved provider awareness of this association may reduce unnecessary testing and costly treatment interventions. ..
  29. McNamee T, Hyland T, Harrington J, Cadogan S, Honari B, Perera K, et al. Haematinic deficiency and macrocytosis in middle-aged and older adults. PLoS ONE. 2013;8:e77743 pubmed publisher
    ..5%) or vitamin B12 (3.4%). Haematinic deficiency and macrocytosis are common in middle-aged/older adults in Ireland. Macrocytosis is more likely to be attributable to an elevated GGT and smoking than vitamin B12 or folate deficiency. ..
  30. Bai W, Yang J, Yang G, Niu P, Tian L, Gao A. Long non-coding RNA NR_045623 and NR_028291 involved in benzene hematotoxicity in occupationally benzene-exposed workers. Exp Mol Pathol. 2014;96:354-60 pubmed publisher
    ..These findings suggested that NR_045623 and NR_028291 might be the key genes associated with benzene hematotoxicity. ..
  31. Hosokawa M, Asami M, Yoshino T, Tsujimura N, Takahashi M, Nakasono S, et al. Monitoring of benzene-induced hematotoxicity in mice by serial leukocyte counting using a microcavity array. Biosens Bioelectron. 2013;40:110-4 pubmed publisher
    ..Serial monitoring of the leukocyte number in individual mice will contribute to the understanding of hematotoxicity and reduction of the number of animal experiment trials. ..
  32. Jannone Forés R, Botella de Maglia J, Bonastre Mora J. [Survival of haematologic patients admitted to an Intensive Care Unit. A 16 years study]. Med Clin (Barc). 2012;139:607-12 pubmed publisher
    ..7% were alive 6 months later. Considering that the ICU survival was higher than 10% for all the groups studied, we conclude that admission of haematologic patients to the ICU is appropriate. ..
  33. Li F, Liu A, Chen Y. [Research Progress on the Role of Musashi-2 in the Pathogenesis of Malignant Hematologic Diseases-Review]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2017;25:633-636 pubmed publisher
    ..Further study on the role of malignant hematologic diseases will further clarify the pathogenesis of malignant hematologic diseases, and provide a new basis for the ..
  34. Lin X, Deng Q, Zhao M, Geng L, Li Y. [Epidemiology of invasive fungal disease in patients with hematological diseases]. Zhonghua Yi Xue Za Zhi. 2013;93:2876-9 pubmed
    ..And June was another lower peak. Agranulocytosis is the main reason for IFD patients with hematological disease. The data is important and valuable for the early diagnosis and therapy of IFD patients with hematological disease. ..
  35. Shahrokhi S, Menaa F, Alimoghaddam K, McGuckin C, Ebtekar M. Insights and hopes in umbilical cord blood stem cell transplantations. J Biomed Biotechnol. 2012;2012:572821 pubmed publisher
    ..Eventually, we provide two majors examples underlining the importance of UCBT as a potential cure for blood diseases. ..
  36. Dickens D, Pollock B. Medication prior authorization in pediatric hematology and oncology. Pediatr Blood Cancer. 2017;64: pubmed publisher
    ..There is opportunity for increasing efficiency through payer and provider collaboration on the creation of prescribing standards for PHO patients. ..
  37. Wendt C. Perception and Assessment of Verbal and Written Information on Sex and Relationships after Hematopoietic Stem Cell Transplantation. J Cancer Educ. 2017;32:681-689 pubmed publisher
  38. Greco R, Barbanti M, Mancini N, Crucitti L, Oltolini C, Forcina A, et al. Adjuvant role of SeptiFast to improve the diagnosis of sepsis in a large cohort of hematological patients. Bone Marrow Transplant. 2018;53:410-416 pubmed publisher
    ..The large analysis highlights the potential of molecular-based assays directly performed on blood samples, especially if implementing the detection of antibiotic resistance genes, which was lacking in the used study. ..
  39. Sugawara Y, Nakase K, Nakamura A, Ohishi K, Sugimoto Y, Fujieda A, et al. Clinical utility of a panfungal polymerase chain reaction assay for invasive fungal diseases in patients with haematologic disorders. Eur J Haematol. 2013;90:331-9 pubmed publisher
  40. Scholz B, Marschalek R. Epigenetics and blood disorders. Br J Haematol. 2012;158:307-22 pubmed publisher
  41. Oki Y, Westin J, Vega F, Chuang H, Fowler N, Neelapu S, et al. Prospective phase II study of rituximab with alternating cycles of hyper-CVAD and high-dose methotrexate with cytarabine for young patients with high-risk diffuse large B-cell lymphoma. Br J Haematol. 2013;163:611-20 pubmed publisher
    ..In conclusion, R-HCVAD/R-MA is associated with excellent outcome in patients ?45 years old. However, in patients >45 years old, R-HCVAD/R-MA is associated with unacceptable mortality rates. ..
  42. Allegra A, Innao V, Penna G, Gerace D, Allegra A, Musolino C. Telomerase and telomere biology in hematological diseases: A new therapeutic target. Leuk Res. 2017;56:60-74 pubmed publisher
    ..New discoveries in telomere structure and telomerase functions have led to an increasing interest in targeting telomeres and telomerase in anti-cancer therapy. ..
  43. Xing C, Chen Q, Li G, Zhang L, Zheng M, Zou Z, et al. Microsomal epoxide hydrolase (EPHX1) polymorphisms are associated with aberrant promoter methylation of ERCC3 and hematotoxicity in benzene-exposed workers. Environ Mol Mutagen. 2013;54:397-405 pubmed publisher
    ..Our findings suggest that benzene exposure may be associated with hypermethylation in ERCC3, and that genetic variants in EPHX1 may play an important role in epigenetic changes and hematotoxicity among benzene-exposed workers. ..
  44. Okada N, Azuma M, Imanishi M, Zamami Y, Kirino Y, Nakamura T, et al. Potential Usefulness of Early Potassium Supplementation for Preventing Severe Hypokalemia Induced by Liposomal Amphotericin B in Hematologic Patients: A Retrospective Study. Clin Ther. 2018;40:252-260 pubmed publisher
    Liposomal amphotericin B (L-AMB) is an essential antifungal agent for patients with hematologic diseases; however, the drug causes severe hypokalemia at a high frequency...
  45. Johnson L, Tretyakova N, Jacobson P. Obesity effects on cyclophosphamide-induced DNA damage in hematopoietic cell transplant recipients. In Vivo. 2012;26:853-7 pubmed
    ..59. Overweight/obese patients have altered metabolism and disposition of cyclophosphamide. This altered exposure may be an important determinant of efficacy and may play a role in treatment-related mortality. ..
  46. Evens A, Hong F, Gordon L, Fisher R, Bartlett N, Connors J, et al. The efficacy and tolerability of adriamycin, bleomycin, vinblastine, dacarbazine and Stanford V in older Hodgkin lymphoma patients: a comprehensive analysis from the North American intergroup trial E2496. Br J Haematol. 2013;161:76-86 pubmed publisher
    ..9%, respectively, P < 0·0001). Altogether, the marked HL age-dependent survival differences appeared attributable primarily to non-HL events. ..
  47. Hilgendorf I, Wolff D, Nogai A, Kundt G, Hahn J, Holler E, et al. Chronic graft versus host disease but not the intensity of conditioning has impact on survival after allogeneic hematopoietic stem cell transplantation for advanced hematological diseases. Onkologie. 2012;35:487-92 pubmed
    ..Development of chronic GvHD but not the conditioning regimen improved the outcome after alloHSCT for advanced malignancies, underlining the importance of immunological rather than cytotoxic effects. ..
  48. Ghoneum M, Badr El Din N, Abdel Fattah S, Tolentino L. Arabinoxylan rice bran (MGN-3/Biobran) provides protection against whole-body ?-irradiation in mice via restoration of hematopoietic tissues. J Radiat Res. 2013;54:419-29 pubmed publisher
  49. Stålberg K, Svensson T, Lonn S, Kieler H. The influence of comorbidity on mortality in ovarian cancer patients. Gynecol Oncol. 2014;133:298-303 pubmed publisher
    ..The impact of comorbidity was mainly apparent among those with a more prosperous prognosis, such as longer time since cancer diagnosis, less aggressive tumors and younger age. ..
  50. Wang Q, Li Y, Ji L, Liang Z, Liu W, Ren H, et al. [Detecting HB-1 Expression Level in Bone Marrow of Acute Leukemia Patients by Real-Time Fluorescence Quantitative RT-PCR]. Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2018;26:8-15 pubmed publisher
    ..in bone marrow of 183 cases of ALL, 70 cases of acute myeloid leukemias (AML), 52 cases of non-malignant hematologic diseases and 24 healthy hematopoietic stem cell donors were detected...
  51. Wang Y, Xiao C, Li J, Zhao W, Mi J, Hu J, et al. [The retrospective study of serum aspergillus galactomannan (GM) antigen assay in invasive aspergillosis on hematological diseases]. Zhonghua Xue Ye Xue Za Zhi. 2013;34:498-501 pubmed publisher
    ..0. 69 cases were diagnosed as proven IA with the incidence rate of 8.36%. The cut-off level for serum GM antigen assay should be decided as optical density index in two continuous samples of ?1.0. ..
  52. Geneugelijk K, Spierings E. Immunogenetic factors in the selection of cord blood units for transplantation: current search strategies and future perspectives. Cytotherapy. 2015;17:702-10 pubmed publisher
    ..transplantation is currently used as a curative treatment for patients with malignant and non-malignant hematologic diseases. Human leukocyte antigen (HLA) matching is a major determinant for hematopoietic stem cell transplantation ..
  53. Lindner L, Hiddemann W. [Hemato-oncological diseases]. Internist (Berl). 2013;54:1197-204 pubmed publisher
    ..For hairy cell leukemia a very effective treatment exists with purine analogs (e.g. cladribine) and for metastatic inoperable GIST with tyrosine kinase inhibitors (e.g. imatinib). ..