Human herpesvirus-8 (HHV-8)–negative, idiopathic multicentric Castleman disease (iMCD) is a rare and life-threatening disorder involving systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. Accurate diagnosis is challenging, because no standard diagnostic criteria or diagnostic biomarkers currently exist, and there is significant overlap with malignant, autoimmune, and infectious disorders.
Hematology
Risk Factors of Budd-Chiari Syndrome
Primary Budd-Chiari syndrome is characterized by a blocked hepatic venous outflow tract at various levels from small hepatic veins to inferior vena cava, resulting from thrombosis or its fibrous sequellae. This rare disease affects mainly young adults. Multiple risk factors have been identified and are often combined in the same patient.
IMWG Diagnostic Criteria for Multiple Myeloma and Related Plasma Cell Disorders
Plasma cell neoplasms including multiple myeloma (MM) and related terminally differentiated B-cell neoplasms are characterized by secretion of monoclonal immunoglobulin and stepwise development from a preneoplastic clonal B and/or plasma cell proliferation called monoclonal gammopathy of undetermined significance (MGUS). Diagnosis of these disorders requires integration of clinical, laboratory, and morphological features.
Diagnostic Criteria of Atypical Chronic Myeloid Leukemia (aCML)
Atypical chronic myelogenous leukemia (aCML), BCR/ABL1 negative is a rare disorder classified into the category of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), according to the 2016 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia. It is, by definition, a BCR-ABL1-negative clonal disorder sharing myelodysplastic and myeloproliferative features.
Diagnostic Criteria for Chronic Neutrophilic Leukemia (CNL)
Chronic neutrophilic leukemia (CNL) is a rare, often aggressive myeloproliferative neoplasm (MPN) defined by persistent mature neutrophilic leukocytosis, bone marrow granulocyte hyperplasia, and frequent hepatosplenomegaly. The seminal discovery of oncogenic driver mutations in colony-stimulating factor 3 receptor (CSF3R) in the majority of patients with CNL in 2013 anchored a new scientific framework, deepening our understanding of its molecular pathogenesis, providing a diagnostic biomarker, and rationalizing the use of pharmacological targeting.
Accelerated Phase Criteria for Chronic Myeloid Leukemia (CML)
The chronic myeloid leukemia (CML) is classically staged into chronic phase (CP, most patients at presentation), accelerated phase (AP) and blast phase (BP). Many definitions have been used for these stages, but all the data generated from the tyrosine kinase inhibitor (TKI) studies has used the historically standard definition where AP is defined by the presence of one or more of the following: ≥15% blasts in PB/BM, ≥20% basophils in PB, platelets <100,000/µL unrelated to treatment or the development of cytogenetic evolution. Blast phase is defined by the presence of ≥30% blasts in the peripheral blood or bone marrow, the presence of clusters of blasts in marrow or the presence of extramedullary disease with immature cells (i.e., a myeloid sarcoma).
Diagnostic Criteria for Myeloid Neoplasms with Myelodysplasia
Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by clonal proliferation of hematopoietic stem cells, recurrent genetic abnormalities, myelodysplasia, ineffective hematopoiesis, peripheral-blood cytopenia, and a high risk of evolution to acute myeloid leukemia (AML).
WHO Diagnostic Criteria for Prefibrotic or Early-Stage Myelofibrosis (pre-PMF)
Prefibrotic myelofibrosis (pre-PMF) is a distinct entity among chronic myeloproliferative neoplasm diagnosed according to the revised WHO classification. The clinical picture is heterogeneous, ranging from isolated thrombocytosis, mimicking essential thrombocythemia (ET), to symptoms of high-risk PMF.
Diagnosis and Severity Criteria for Sinusoidal Obstruction Syndrome/Veno-Occlusive Disease in Children
Hepatic sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) is a life-threatening complication of hematopoietic cell transplantation (HCT) that belongs to a group of diseases increasingly identified as transplant-related, systemic endothelial diseases. In most cases, SOS/VOD resolves within weeks; however, severe SOS/VOD results in multi-organ dysfunction/failure with a mortality rate >80%.
Diagnostic Criteria for Primary Myelofibrosis (PMF)
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR or MPL mutation, abnormal cytokine expression, bone marrow fibrosis, anemia, splenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression and shortened survival.