interphase-fluorescence-situ-hybridization-bone-marrow-smears

Interphase Fluorescence <em>in situ</em> Hybridization of Bone Marrow Smears of Multiple Myeloma

Fluorescence in situ hybridization (FISH) detection is an indispensable method in genetic risk stratification in multiple myeloma (MM), which is one of ...

zhongnan hospital of Wuhan University

We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington's disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington's disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identified abnormally amplified CAG sequence repeats (> 40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington's disease, two cases were identified (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington's disease. Our findings suggest that clinical diagnosis of Huntington's disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis. 

Examination of Huntington's disease in a Chinese family.

Hepatocellular carcinoma (HCC) is one of the most malignant cancer with high morbidity and mortality which lead to a serious burden to society. AFP (alpha-fetoprotein) is the most widely used serum biomarker to detect HCC worldwide. However, no AFP elevation have been found in many HCC and AFP analysis can't be used to screen HCC in these cases. Currently, many studies have been carried out to find reliable biomarker in diagnosing AFP-negative HCC. Such biomarker would help the diagnosis of AFP-negative HCC, ensuring the timely initiation of treatment. In this review, we highlight the important role of biomarkers that can differentiate AFP-negative HCCs, and discuss their potential clinical applications as biomarkers for the diagnosis of AFP-negative HCC.

Current Status and Perspective Biomarkers in AFP Negative HCC: Towards Screening for and Diagnosing Hepatocellular Carcinoma at an Earlier Stage.

Integrating the proportion of ring sideroblasts and SF3B1 mutation status is required for diagnosis of sideroblastic subgroups in myelodysplastic syndrome (MDS) as proposed by the World Health Organization 2016 classification. However, the clinical implications of SF3B1 mutation and ring sideroblasts in MDS-refractory cytopenia with multilineage dysplasia (MDS-RCMD) remain unclear.

SF3B1 Mutation but Not Ring Sideroblasts Identifies a Specific Group of Myelodysplastic Syndrome-Refractory Cytopenia With Multilineage Dysplasia.

The Wilms' tumor 1 () gene is an important regulatory molecule that plays a vital role in cell growth and development. Initially, knowledge of  was mostly limited to Wilms' tumor. Over the past years, numerous studies have shown that  is aberrant expressed or mutated in hematopoietic malignancies, including acute leukemia (AL), myelodysplastic syndrome (MDS) and chronic myelogenous leukemia (CML). Currently, many studies focus on exploring the role of  in hematopoietic malignancies. Such studies improve the understanding of hematopoietic malignancies, and the collection of data about  expression or mutation in hematopoietic malignancies over the past years can facilitate the risk stratification of hematopoietic malignancies. In this review, we highlight the important role of  in hematopoietic malignancies, discuss its potential clinical applications as a minimal residual disease (MRD) and prognostic biomarker, and evaluate the possible therapy target of  in hematopoietic malignancies.

Wilms' tumor 1 gene in hematopoietic malignancies: clinical implications and future directions.

Recurrent positive SARS-CoV-2: Immune certificate may not be valid.

Asymptomatic carriers were positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) without developing symptoms, which might be a potential source of infection outbreak. Here, we aim to clarify the epidemiologic and influencing factors of asymptomatic carriers in the general population.

Article	Year
Examination of Huntington's disease in a Chinese family. Neural regeneration research\| PubMed ID: 25206833	2014
Current Status and Perspective Biomarkers in AFP Negative HCC: Towards Screening for and Diagnosing Hepatocellular Carcinoma at an Earlier Stage. Pathology oncology research : POR\| PubMed ID: 30661224	2020
SF3B1 Mutation but Not Ring Sideroblasts Identifies a Specific Group of Myelodysplastic Syndrome-Refractory Cytopenia With Multilineage Dysplasia. Clinical lymphoma, myeloma & leukemia\| PubMed ID: 32037286	2020
Wilms' tumor 1 gene in hematopoietic malignancies: clinical implications and future directions. Leukemia & lymphoma\| PubMed ID: 32401109	2020
Recurrent positive SARS-CoV-2: Immune certificate may not be valid. Journal of medical virology\| PubMed ID: 32470172	2020
Tracing asymptomatic SARS-CoV-2 carriers among 3674 hospital staff:a cross-sectional survey. EClinicalMedicine\| PubMed ID: 32954232	2020
Next-generation sequencing redefines the diagnosis of triple-negative myeloproliferative neoplasms. Annals of hematology\| PubMed ID: 34518917	2022
A new workflow on bone marrow aspiration and biopsy during the COVID-19 pandemic. Archives of medical science : AMS\| PubMed ID: 34522274	2021
EasyCatch, a convenient, sensitive and specific CRISPR detection system for cancer gene mutations. Molecular cancer\| PubMed ID: 34856977	2021

Sanyun Wu

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