scholarly journals Chromosome 10 abnormality predicts prognosis of neuroblastoma patients with bone marrow metastasis

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Chi-yi Jiang ◽  
Xiao Xu ◽  
Bing-lin Jian ◽  
Xue Zhang ◽  
Zhi-xia Yue ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Clinical Characteristics ◽  
Chromosomal Abnormalities ◽  
Medical Oncology ◽  
Abnormal Chromosome ◽  
Mycn Amplification ◽  
Bone Marrow Metastasis ◽  
Chromosome 10 ◽  
Orbital Metastases ◽  
The Relationship

Abstract Background Neuroblastoma (NB) is the most common extracranial solid tumor in children. It is known for high heterogeneity and concealed onset. In recent years, the mechanism of its occurrence and development has been gradually revealed. The purpose of this study is to summarize the clinical characteristics of children with NB and abnormal chromosome 10, and to investigate the relationship between the number and structure of chromosome 10 abnormalities and NB prognosis. Methods Chromosome G-banding was used at the time of diagnosis to evaluate the genetics of chromosomes in patients with NB and track their clinical characteristics and prognosis. All participants were diagnosed with NB in the Medical Oncology Department of the Beijing Children’s Hospital from May 2015 to December 2018 and were followed up with for at least 1 year. Results Of all 150 patients with bone marrow metastases, 42 were clearly diagnosed with chromosomal abnormalities. Thirteen patients showed abnormalities in chromosome 10, and chromosome 10 was the most commonly missing chromosome. These 13 patients had higher LDH and lower OS and EFS than children with chromosomal abnormalities who did not have an abnormality in chromosome 10. Eight patients had both MYCN amplification and 1p36 deletion. Two patients had optic nerve damage and no vision, and one patient had left supraorbital metastases 5 months after treatment. Conclusions The results indicated that chromosome 10 might be a new prognostic marker for NB. MYCN amplification and 1p36 deletion may be related to chromosome 10 abnormalities in NB. Additionally, NB patients with abnormal chromosome 10 were prone to orbital metastases.

scholarly journals Chromosome 10 Abnormality Predicts Prognosis of Neuroblastoma Patients With Bone Marrow Metastasischromosome 10 Abnormality Predicts Prognosis of Neuroblastoma Patients With Bone Marrow Metastasis

2021 ◽  
Author(s):  
Chiyi Jiang ◽  
Xiao Xu ◽  
Binglin Jian ◽  
Xue Zhang ◽  
Zhixia Yue ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Clinical Characteristics ◽  
Chromosomal Abnormalities ◽  
Abnormal Chromosome ◽  
Mycn Amplification ◽  
Chromosome 10 ◽  
Orbital Metastases ◽  
One Year ◽  
The Relationship

Abstract Background Neuroblastoma (NB) is the most common extracranial solid tumor in children with high heterogeneity and concealed onset. The mechanism for its occurrence and development has not been revealed. The purpose of this study was to summarize the clinical characteristics of children with NB and abnormal chromosome 10. To investigate the relationship between the number and structure of chromosome 10 abnormality and NB prognosis.MethodsWe used chromosome G-banding in the first diagnosis to evaluate the genetics of chromosomes in patients with NB, and follow up their clinical characteristics and prognosis. All participants were diagnosed with NB in Hematology Oncology Center, Beijing Children’s Hospital from May 2015 to December 2018, and were followed up for at least one year. ResultsOf all 150 patients with bone marrow metastases, 42 were clearly diagnosed with chromosomal abnormalities. There were 13 patients with chromosome 10 abnormalities definitely, and the loss of chromosome 10 was the most common decrease in the number of chromosomes. These 13 patient had higher LDH, lower OS and EFS than that of children in abnormal group without chromosome 10 abnormality. Eight patients both had MYCN amplification and 1p36 deletion. Two of them had optic nerve damage and no vision, and 1 had left supraorbital metastases five months after treatment. Among the 16 children with suspected chromosome 10 abnormalities, 3 also had orbital metastases. ConclusionsThe above results showed that chromosome 10 might be a new prognostic marker. MYCN amplification and 1p36 deletion may be related with chromosome 10 abnormalities in NB. And NB patients with abnormal chromosome 10 were prone to have orbital metastases.

scholarly journals PHOX2B expression in bone marrow and peripheral blood is associated with metastasis and prognosis in patients with neuroblastoma

2020 ◽  
Author(s):  
Hongjun Fan ◽  
Tianyu Xing ◽  
Huimin Hong ◽  
Chao Duan ◽  
Wen Zhao ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Peripheral Blood ◽  
Clinical Characteristics ◽  
Operating Characteristic ◽  
Neuroblastoma Cells ◽  
Prognostic Analysis ◽  
Kaplan Meier ◽  
Polymerase Chain ◽  
The Relationship

Abstract Background Paired-like homeobox 2B (PHOX2B) is specifically expressed in the nervous system including neuroblastoma cells, but little is known about the clinical significance of the expression of PHOX2B in bone marrow (BM) and peripheral blood (PB) samples of newly diagnosed neuroblastoma patients. Methods The expression of PHOX2B in 276 paired BM and PB samples of neuroblastoma patients at diagnosis was tested by quantitative reverse transcriptase polymerase chain reaction (RT-PCR). Then the relationship between PHOX2B level and clinical characteristics including metastasis and prognosis was explored by receiver operating characteristic (ROC) analysis and Kaplan-Meier method. Results We identified the combined expression of PHOX2B in both BM and PB provided a high diagnostic accuracy for metastasis of neuroblastoma patients (AUC = 0.920) with the sensitivity and specificity of 86.7% and 92.9%, respectively. At last, 246 patients were enrolled for prognostic analysis. The median follow-up time was 22 months. Positive expressions of PHOX2B in BM and PB at diagnosis were associated with worse EFS and OS in neuroblastoma patients (P < 0.05). What’s worse, 19.7% (31/157) and 6.4% (10/157) patients with positive expression of PHOX2B in BM and PB samples in low/intermediate-risk group also had shorter EFS and poor OS (P < 0.05). CONCLUSIONS The expressions of PHOX2B in BM and PB were high in patients with unfavorable clinical characteristics. PHOX2B could be an appropriate biomarker for predicting metastasis and prognosis in patients with neuroblastoma.

scholarly journals Clinical characteristics and prognosis of 40 patients with periorbital metastasis of neuroblastoma

2020 ◽  
Author(s):  
Jing Qin ◽  
Qian Zhao ◽  
Mei Jin ◽  
Xiao Xu ◽  
Zhixia Yue ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Survival Rate ◽  
Clinical Characteristics ◽  
Abdominal Mass ◽  
Age At Onset ◽  
Stage Iv ◽  
Neck Mass ◽  
Mycn Amplification ◽  
Short Term ◽  
Gene Status

Abstract Background This study was performed to summarize the clinical characteristics of patients with periorbital metastasis of neuroblastoma (NB) and analyze the short-term prognosis. Methods This study included 40 patients with periorbital metastasis of NB from March 2007 to March 2018. The patients’ clinical characteristics and short-term prognosis were retrospectively analyzed. Results The 40 patients comprised 25 boys and 15 girls with a median age at onset of 31 months (range, 8–132 months). The patients’ symptoms included a periorbital mass and eye bruising (n = 37, 92.5%), limb pain (n = 14, 35.0%), a head and neck mass (n = 8, 20.0%), fever (n = 8, 20.0%), an abdominal mass (n = 4, 10.0%), weakness (n = 3, 7.5%), abdominal pain (n = 2, 5.0%), anemia (n = 2, 5.0%), and others (n = 3, 7.5%). All 40 patients had stage IV, high-risk NB. Various auxiliary structures of the eye were involved: ocular muscles (n = 11, 27.5%), lacrimal glands (n = 4, 10.0%), optic nerve (n = 2, 5.0%), and eyelid (n = 1 2.5%). Fifteen patients (37.5%) had tumor invasion in a periorbital sinus cavity. All patients had bone marrow and bone metastasis. Of 38 patients with a known MYCN gene status, 17 patients (44.7%) had MYCN amplification. The median follow-up duration was 19 months (range, 4–144 months). The 5-year event-free survival rate was 6%, and the 5-year overall survival rate was 16%. Conclusions Patients with periorbital metastasis of NB often have multi-organ metastases, extremely high rates of MYCN amplification and bone marrow metastasis, and a poor short-term prognosis.

Prevalence and clinical characteristics of myelodysplastic syndrome with bone marrow eosinophilia or basophilia

Blood ◽  
2003 ◽  
Vol 101 (9) ◽  
pp. 3386-3390 ◽  
Author(s):  
Takafumi Matsushima ◽  
Hiroshi Handa ◽  
Akihiko Yokohama ◽  
Jun Nagasaki ◽  
Hiromi Koiso ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Myelodysplastic Syndrome ◽  
Clinical Characteristics ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Cells ◽  
Myelogenous Leukemia ◽  
International Prognostic Scoring System ◽  
Differential Count ◽  
Acute Myelogenous

By retrospectively analyzing 288 patients with de novo myelodysplastic syndrome (MDS), we sought to determine the prevalence and clinical characteristics of bone marrow eosinophilia and basophilia that were detected at presentation. Bone marrow eosinophilia and basophilia were defined as a differential count of each cell type exceeding 5.0% and 1.0%, respectively. Of 288 patients with MDS, 36 (12.5%) fulfilled this criterion for bone marrow eosinophilia (MDS-Eos); 34 patients (11.8%) showed basophilia (MDS-Bas), and 11 (3.8%) satisfied both criteria (MDS-EosBas). The remaining 229 patients had neither eosinophilia nor basophilia in their bone marrow (MDS−/−) at presentation. Cytogenetic analysis was carried out on unstimulated bone marrow cells obtained from 264 patients. When the cytogenetic categorization of the IPSS (International Prognostic Scoring System) for MDS was applied, significantly higher numbers of MDS-Eos and MDS-Bas patients had chromosomal abnormalities carrying intermediate or poor prognosis, compared with the MDS−/− patients. Specific chromosomal abnormalities and complex karyotypes were associated with MDS-Eos and/or MDS-Bas. In accordance with these results, the overall survival rate was significantly lower, and the evolution to acute myelogenous leukemia (AML) occurred more frequently in the MDS-Eos and MDS-Bas than in the MDS−/− patients. Multivariate analysis demonstrated that bone marrow basophilia was an independent risk factor for evolution to AML. Our study indicates that bone marrow eosinophilia and basophilia in patients with MDS predict a poorer prognosis.

scholarly journals Seropositivity for CMV, EBV, HBV, HCV, and HIV in Leukemia Patients and Its Relationship with Cytogenetic Changes

2022 ◽  
Author(s):  
Mohammad Eslami ◽  
Vahid Falahati ◽  
Soheila siroosbakht ◽  
Mahdi Nikoohemmat ◽  
Nahid Arabi
Keyword(s):  
Bone Marrow ◽  
Third World ◽  
Soft Tissues ◽  
Chromosomal Abnormalities ◽  
Chromosomal Translocation ◽  
Viral Diseases ◽  
Cmv Infection ◽  
Clinical Trial Registration ◽  
Tertiary Hospitals ◽  
The Relationship

Abstract Introduction: Leukemias are involving the bone marrow and the soft tissues in inner parts of the bones, where new blood cells are formed. This malignancy is the most common pediatric cancer, which its etiologic causes are not well understood. This multifactorial disease is believed to linked with genetic and non-hereditary environmental factors. Cytogenic analyses of chromosomal abnormalities provide diagnostic and prognostic values in leukemia patients. Given the high prevalence of viral diseases and clinical suspicions on the relationship between certain viral infections and leukemia, it is necessary to investigate this possible relationship, especially in third-world countries. The present study recruited 65 children with leukemia (AML, CML, or ALL) who were presented to two tertiary hospitals. At first, all the patients underwent testing for HBV, HCV, CMV, EBV, and HIV. Bone marrow specimens were studied for identifying possible chromosomal abnormalities in cytogenic investigations. According to our findings, there was a relationship between incidence of leukemia, the 12:21 chromosomal translocation and CMV infection. Therefore, preventing CMV infection can lead to a reduced incidence of leukemia. It is expected that the findings of this study enlighten the scientists to conduct more extensive research on the relationship between viral diseases and leukemia in third-world countries.Method:The present study recruited 65 children with leukemia (AML, CML, or ALL) who were presented to two tertiary hospitals. At first, all the patients underwent testing forHBV, HCV, CMV, EBV, and HIV. Bone marrow specimens were studied for identifying possible chromosomal abnormalities in cytogenic investigations.Result:According to our findings,there was a relationship between the incidence of leukemia,the 12:21 chromosomal translocation, and CMV infection.Therefore, preventing CMV infection can lead to a reducedincidence of leukemia.Conclusion:In this study, we demonstrated that leukemia is relevant to the 12:21 chromosomal translocation and CMV virus infections, So the reduction in leukemia prevalence is dependent on the prevention of CMV disease. It is expected that the findings ofthis studyenlighten the scientists to conduct more extensive researchon the relationship between viral diseasesand leukemia in third-world countries.Trial registrations:Clinical trial registration code:IR.AJAUMS.REC.1399.161Evaluated by: AJA UNIVERSITY OF MEDICAL SCIENCESApproval Date:2020-11-15Approval statement: The project was found to be in accordance with the ethical principles and the national norms and standards for conducting Medical Research in Iran.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

The Mitochondrion-targeted Antioxidants in Kidney Disease

2020 ◽  
Vol 27 ◽  
Author(s):  
Xinrui Li ◽  
Liang Ma ◽  
Ping Fu
Keyword(s):  
Reactive Oxygen Species ◽  
Cell Death ◽  
Clinical Characteristics ◽  
Kidney Diseases ◽  
Oxygen Species ◽  
Mitochondrial Targeting ◽  
Mitochondria Dysfunction ◽  
Cellular Reactive Oxygen Species ◽  
Novel Strategy ◽  
The Relationship

: Mitochondria are potent source of cellular reactive oxygen species (ROS) and are vulnerable to oxidative damage. Mitochondria dysfunction could result in adenosine triphosphate (ATP) decrease and cell death. The kidney is an ATPconsuming organ, and the relationship between mitochondrial dysfunction and renal disease has been long noted. Mitochondrial targeting is a novel strategy for kidney diseases. At present, there are several ways to target mitochondria such as the addition of a triphenylphosphonium cation, mitochondria-targeted peptides, and nanocarrier. There are also a variety of choices for the payload, such as nitroxides, quinone derivates, vitamins and so on. This review summarized chemical and also clinical characteristics of various mitochondria-targeted antioxidants and focused on their application and perspectives in kidney diseases.

Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle Pregnancy

2020 ◽  
Vol 160 (11-12) ◽  
pp. 634-642
Author(s):  
Shiqiang Luo ◽  
Xingyuan Chen ◽  
Tizhen Yan ◽  
Jiaolian Ya ◽  
Zehui Xu ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
High Throughput ◽  
Copy Number ◽  
High Throughput Sequencing ◽  
Chromosomal Abnormalities ◽  
Pregnancy Termination ◽  
Mendelian Inheritance ◽  
Copy Number Variations ◽  
Abnormal Chromosome ◽  
Number Variation

High-throughput sequencing based on copy number variation (CNV-seq) is commonly used to detect chromosomal abnormalities. This study identifies chromosomal abnormalities in aborted embryos/fetuses in early and middle pregnancy and explores the application value of CNV-seq in determining the causes of pregnancy termination. High-throughput sequencing was used to detect chromosome copy number variations (CNVs) in 116 aborted embryos in early and middle pregnancy. The detection data were compared with the Database of Genomic Variants (DGV), the Database of Chromosomal Imbalance and Phenotype in Humans using Ensemble Resources (DECIPHER), and the Online Mendelian Inheritance in Man (OMIM) database to determine the CNV type and the clinical significance. High-throughput sequencing results were successfully obtained in 109 out of 116 specimens, with a detection success rate of 93.97%. In brief, there were 64 cases with abnormal chromosome numbers and 23 cases with CNVs, in which 10 were pathogenic mutations and 13 were variants of uncertain significance. An abnormal chromosome number is the most important reason for embryo termination in early and middle pregnancy, followed by pathogenic chromosome CNVs. CNV-seq can quickly and accurately detect chromosome abnormalities and identify microdeletion and microduplication CNVs that cannot be detected by conventional chromosome analysis, which is convenient and efficient for genetic etiology diagnosis in miscarriage.

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