Hematologic Neoplasms ; diagnosis ; pathology ; Humans

Hematologic Neoplasms ; diagnosis ; therapy ; Humans

Hematologic Neoplasms ; diagnosis ; Humans ; Molecular Diagnostic Techniques

The broad dissemination of next-generation sequencing capability has increased recognition of clonal hematopoiesis in various clinical settings. In hematologically normal individuals, somatic mutations may occur at an increasing frequency with age in genes that are also commonly mutated in overt myeloid malignancies such as AML and MDS (e.g., DNMT3A, TET2, and ASXL1). This is referred to as clonal hematopoiesis of indeterminate potential (CHIP) and is a benign state; however, it carries a risk of progression to hematologic malignancy as well as mortality primarily because of increased cardiovascular events. In clinical settings, clonal hematopoiesis may be observed in cytopenic patients who do not otherwise meet the criteria for hematologic malignancy, a condition referred to as clonal cytopenias of undetermined significance (CCUS). Distinguishing CCUS from overt MDS or other myeloid neoplasms can be challenging because of the overlapping mutational landscape observed in these conditions. Genetic features that could be diagnostically helpful in making this distinction include the number and biological function of mutated genes as well as the observed variant allele frequency. A working knowledge of clonal hematopoiesis is essential for the diagnosis and clinical management of patients with hematologic conditions. This review describes the key characteristics of clonal hematopoiesis with particular focus on implications for differential diagnosis in patients with CHIP, idiopathic cytopenia, CCUS, and myeloid malignancy.
Diagnosis ; Diagnosis, Differential ; Gene Frequency ; Hematologic Neoplasms ; Hematopoiesis ; Humans ; Mortality

The standardization committee of the Korean Society for Laboratory Hematology sought to establish standardized testing guidelines for the diagnosis of hematologic malignancies. The guidelines were developed on the basis of survey results and international guidelines, including the National Comprehensive Cancer Network Guidelines and European LeukemiaNet recommendations. The committee expects that the diagnostic guidelines presented here will enhance diagnostic test standardization and clinical decision making and that the novel developments due to new molecular technologies will be integrated into the diagnostic algorithms through ongoing consensus initiatives.
Consensus ; Decision Making ; Diagnosis* ; Diagnostic Tests, Routine ; Hematologic Neoplasms* ; Hematology

Dendritic Cells ; pathology ; Hematologic Neoplasms ; diagnosis ; therapy ; Humans

Next-generation sequencing (NGS) is currently used in the clinical setting for targeted therapies and diagnosis of hematologic malignancies. Accurate detection of somatic variants is challenging because of tumor purity, heterogeneity, and the complexity of genetic alterations, with various issues ranging from high detection design to test implementation. This article presents guidelines developed through consensus among a panel of experts from the Korean Society for Genetic Diagnostics. They are based on experiences with the validation processes of NGS-based somatic panels for hematologic malignancies, with reference to previous international recommendations. These guidelines describe basic parameters with emphasis on the design of a validation protocol for NGS-based somatic panels to be used in practice. In addition, they suggest thresholds of key metrics, including minimum coverage, mean coverage with uniformity index, and minimum variant allele frequency, for the initial diagnosis of hematologic malignancies.
Clothing ; Consensus ; Diagnosis ; Gene Frequency ; Hematologic Neoplasms ; Population Characteristics

hematologic neoplasms could be diagnosed according to the revised 4th edition of WHO classification of tumors of haematopoietic and lymphoid tissues. The new guidelines were revised based on an extensive review of international guidelines that included the National Comprehensive Cancer Network Guidelines, and European LeukemiaNet recommendations that are based on the revised WHO classification. We expect that the newly revised guidelines will improve clinical decisions, standardize laboratory tests, and enhance the development of new molecular technologies that are integrated into diagnostic algorithms via ongoing consensus initiatives.]]>
Classification ; Consensus ; Diagnosis ; Hematologic Neoplasms ; Hematology ; Lymphoid Tissue

The numb chin syndrome (NCS) is characterized by chin or lower lip numbness restricted to the distribution of mental nerve (the distal trigeminal nerve). This uncommon neuropathy may be associated with neoplastic disease and usually appeared as a late manifestation of systemic malignancy, and it is an important sign for early diagnosis and prediction of clinical course and prognosis of hematologic malignancy. The numb chin syndrome is usually associated with a poor prognosis although various therapeutic strategies led to resolution of this syndrome. We report 2 cases of numb chin syndrome ; one in acute leukemia in early course of disease before diagnosis of leukemia and the other in leptomeningeal seeding of malignant lymphoma. The therapeutic response and prognosis were poor, a patient of malignant lymphoma expired in two months and a patient of acute leukemia is alive at present but the disease was relapsed in 5 months after complete remission.
Chin* ; Diagnosis ; Early Diagnosis ; Hematologic Neoplasms ; Humans ; Hypesthesia ; Leukemia ; Lip ; Lymphoma ; Prognosis

Systemic or disseminated candidiasis is a not uncommon serious complication among patients with impaired host-defense mechanisms, particularly among those with hematologic malignancies. Although widespread organ involvement is characteristic of disseminated candidiasis, there is only a few reports of skin manifestation in Korea. The diagnosis is often difficult to establish, since Candida organisms can be cultured from blood specimens in only 25% of the patients. Unless treated, the disease is rapidly fatal. If there is any evidence of respiratory distress or signs of sepsis in hematologic malignancy patients the possibility of systemic candidiasis and the need for parenteral antifungal therapy must be considered by early pathologic diagnosis of heralding skin lesions. We describe three hematologic malignancy patients with systemic candidiasis with disseminated maculopapules and vesicular eruption and respiratory distress. Skin biopsies showed multiple spores and pseudohyphae in the dermis and subcutis. These patients did not respond to intravenous antifungal agents and had fatal course.
Antifungal Agents ; Biopsy ; Candida ; Candidiasis* ; Dermis ; Diagnosis ; Hematologic Neoplasms* ; Humans ; Korea ; Sepsis ; Skin Manifestations* ; Skin* ; Spores