In recent years, as a new omics field, metabolomics has been proved to be of great value in the study of the mechanism of occurrence and progression, the screening of new biomarkers and the development of novel therapeutic strategies in many diseases including tumors. In this review, we briefly summarized the research methods and techniques of metabolomics, and focused on the latest research progress of metabolomics in the pathogenesis of hematological malignancies represented by leukemia, lymphoma and multiple myeloma, screening of biomarkers for diagnosis and prognosis, and development of new therapeutic strategies. This article proposes the limitations of metabolomics and future research strategies, and provides a new exploration direction for accurate diagnosis and treatment as well as prognosis evaluation of hematological malignancies.
Humans ; Metabolomics/methods* ; Hematologic Neoplasms/diagnosis* ; Biomarkers, Tumor

OBJECTIVE: To investigate the efficacy and safety of diagnostic-driven therapy for invasive fungal disease(IFD) in patients with myeloid hematologic malignancies. METHODS: A retrospective analysis was conducted on the clinical data of 91 patients with myeloid hematologic malignancies who received diagnostic-driven therapy for IFD at the Second Hospital of Anhui Medical University from January 1, 2020 to December 31, 2023. The patients were divided into two groups based on medication: 44 patients in the caspofungin group and 47 patients in the voriconazole group. The clinical efficacy and adverse reactions of the two groups were compared and analyzed. RESULTS: The overall response rates in the caspofungin and voriconazole groups were 67.4% and 60.0%, respectively. Among patients who transitioned to diagnostic-driven therapy following prophylactic or empirical treatment with triazole antifungal agents, the response rate of the caspofungin group was significantly higher than that of the voriconazole group (76.9% vs 35.3%, P <0.05). A total of 9 patients in both groups experienced adverse reactions, and no grade III or higher adverse reactions occurred. The incidence of grade I-II adverse reactions in the caspofungin group was lower than in the voriconazole group (2.3% vs 17.0%, P <0.05). CONCLUSION In patients with myeloid hematologic malignancies, caspofungin and voriconazole demonstrate comparable clinical efficacy in diagnostic-driven therapy for IFD, but caspofungin is associated with a lower incidence of adverse reactions. Caspofungin exhibits significant effectiveness when initiating diagnostic-driven therapy after prophylactic or empirical treatment with broad-spectrum triazole antifungal agents.
Humans ; Retrospective Studies ; Hematologic Neoplasms/complications* ; Antifungal Agents/therapeutic use* ; Voriconazole/therapeutic use* ; Caspofungin/therapeutic use* ; Invasive Fungal Infections/diagnosis* ; Male ; Female ; Mycoses/drug therapy* ; Middle Aged ; Treatment Outcome ; Aged ; Adult

Blastic plasmacytoid dendritic cell neoplasm(BPDCN)is an extremely rare invasive tumor with poor prognosis.The common clinical manifestations of BPDCN include skin injury,bone marrow involvement,and tumor cell spread.BPDCN is often misdiagnosed as other diseases and its diagnosis often requires a combination of clinical manifestations,imaging,histology,and immunophenotyping.Among them,immunophenotyping is crucial for the diagnosis of BPDCN.Although BPDCN is rare and no consensus has been reached on first-line treatment option,new drugs and options for treating this disease have emerged with the development of new drugs and increased awareness of BPDCN.This article reviews the research background,the origin of blastic plasmacytoid dendritic cells,and the recent research progress in the pathogenesis,diagnosis and differential diagnosis,treatment,and prognosis of BPDCN.
Humans ; Dendritic Cells ; Prognosis ; Diagnosis, Differential ; Immunophenotyping ; Skin Neoplasms/diagnosis* ; Hematologic Neoplasms/pathology*

The coronavirus disease 2019 (COVID-19) is an emerging infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Within a matter of months, this highly contagious novel virus has led to a global outbreak and is still spreading rapidly across continents. In patients with COVID-19, underlying chronic diseases and comorbidities are associated with dismal treatment outcomes. Owing to their immunosuppressive status, patients with hematological malignancies (HMs) are at an increased risk of infection and have a worse prognosis than patients without HMs. Accordingly, intensive attention should be paid to this cohort. In this review, we summarize and analyze specific clinical manifestations for patients with coexisting COVID-19 and HMs. Furthermore, we briefly describe customized management strategies and interventions for this susceptible cohort. This review is intended to guide clinical practice.
COVID-19/prevention & control* ; Diagnosis, Differential ; Disease Management ; Hematologic Neoplasms/virology* ; Hospitalization ; Humans ; Immunocompromised Host ; Risk Factors

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

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

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

Thyroid disorders are common, affecting more than 10% of people in the US, and laboratory tests are integral in the management of these conditions. The repertoire of thyroid tests includes blood tests for thyroid-stimulating hormone (TSH), free thyroxine, free triiodothyronine, thyroglobulin (Tg), thyroglobulin antibodies (Tg-Ab), thyroid peroxidase antibodies (TPO-Ab), TSH receptor antibodies (TRAb), and calcitonin. TSH and free thyroid hormone tests are frequently used to assess the functional status of the thyroid. TPO-Ab and TRAb tests are used to diagnose Hashimoto's thyroiditis and Graves' disease, respectively. Tg and calcitonin are important tumor markers used in the management of differentiated thyroid carcinoma and medullary thyroid carcinoma (MTC), respectively. Procalcitonin may replace calcitonin as a biomarker for MTC. Apart from understanding normal thyroid physiology, it is important to be familiar with the possible pitfalls and caveats in the use of these tests so that they can be interpreted properly and accurately. When results are discordant, clinicians and laboratorians should be mindful of possible assay interferences and/or the effects of concurrent medications. In addition, thyroid function may appear abnormal in the absence of actual thyroid dysfunction during pregnancy and in critical illness. Hence, it is important to consider the clinical context when interpreting results. This review aims to describe the above-mentioned blood tests used in the diagnosis and management of thyroid disorders, as well as the pitfalls in their interpretation. With due knowledge and care, clinicians and laboratorians will be able to fully appreciate the clinical utility of these important laboratory tests.
Antibodies ; Biomarkers, Tumor ; Calcitonin ; Critical Illness ; Diagnosis ; Graves Disease ; Hematologic Tests ; Iodide Peroxidase ; Physiology ; Pregnancy ; Receptors, Thyrotropin ; Thyroglobulin ; Thyroid Function Tests ; Thyroid Gland* ; Thyroid Neoplasms ; Thyroiditis ; Thyrotropin ; Thyroxine ; Triiodothyronine

OBJECTIVE: This study aimed to evaluate the prognostic impact of age at diagnosis, and pretreatment hematologic markers, including lymphocyte percentage and the neutrophil-to-lymphocyte ratio (NLR), in patients with locally advanced cervical cancer (LACC) treated with definitive radiotherapy (RT). METHODS: A total of 392 patients with LACC (stage IIb to IVa) treated with cisplatin-based concurrent chemoradiotherapy or RT alone between 2001 and 2012 were retrospectively enrolled. Clinical data and pretreatment complete blood counts were extracted from electronic medical records of the patients, and analyzed. Treatment outcomes, progression-free survival (PFS), and overall survival (OS) were evaluated. RESULTS: Low lymphocyte percentage and a high NLR were associated with younger age, advanced stage, larger tumor size, lymph nodes metastasis, and treatment failure. The cut-off value for lymphocyte percentage and NLR was determined using a receiver operating characteristic curve. In univariate analysis, low lymphocyte percentage (≤24%) was associated with poor PFS and OS, while high NLR ( > 2.8) was significantly associated only with PFS. In multivariate analysis, both lymphocyte percentage (hazard ratio [HR], 0.59; 95% confidence interval [CI], 0.40–0.85; P=0.005) and NLR (HR, 1.55; 95% CI, 1.07–2.25; P=0.022) had independent prognostic value for PFS. Compared to younger patients (age ≤50 years), older patients (age > 60 years) had a lower risk of death. CONCLUSION: Although the lymphocyte percentage did not remain significant in multivariate analysis for OS, it was predictive of PFS and OS. Thus, lymphocyte percentage is a simple hematologic parameter with a significant prognostic value in patients with LACC treated with definitive RT.
Aging ; Blood Cell Count ; Chemoradiotherapy ; Diagnosis* ; Disease-Free Survival ; Electronic Health Records ; Hematologic Tests ; Humans ; Lymph Nodes ; Lymphocytes* ; Multivariate Analysis ; Neoplasm Metastasis ; Prognosis ; Radiotherapy* ; Retrospective Studies ; ROC Curve ; Treatment Failure ; Uterine Cervical Neoplasms*

OBJECTIVES: The purposes of this study were to evaluate the clinical characteristics of temporal bone metastasis (TBM) and to determine whether the characteristics differed according to primary malignancy. METHODS: We retrospectively analyzed data on 20 patients diagnosed with TBM between January 2000 and January 2017. Demographics, the period from diagnosis of primary malignancy to TBM diagnosis, the period from TBM diagnosis to death, the type and staging of primary malignancy, otologic manifestations, and TBM sites were assessed. After the primary malignancies were divided into solid cancers and hematologic malignancies, each parameter was compared between the two groups. RESULTS: The most common primary malignancy with TBM was lung cancer (45%). The most common otologic symptoms and signs were facial palsy (30.5%) and hearing loss (30.5%). The temporal squama (23%) and the facial nerve (20%) were the most commonly involved. Most TBMs occurred late in the disease process after the primary malignancy first metastasized to other organs. Hematologic malignancies metastasized significantly more frequently to the external auditory canal and the middle ear/mastoid compared to solid cancers (P=0.001 and P=0.004, respectively). CONCLUSION: If otologic manifestations such as facial palsy and hearing loss are presented in patients at advanced stages of malignancy, TBM of primary malignancy should be suspected. In addition, hematologic malignancies tend to metastasize to the external auditory canal and the middle ear cleft more commonly than solid cancers do.
Demography ; Diagnosis ; Ear Canal ; Ear, Middle ; Facial Nerve ; Facial Paralysis ; Head and Neck Neoplasms ; Hearing Loss ; Hematologic Neoplasms ; Humans ; Leukemia ; Lung Neoplasms ; Neoplasm Metastasis ; Retrospective Studies ; Temporal Bone