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Objective:To assess the clinical significance of next-generation sequencing (NGS)-based IGH/ IGK gene rearrangement analysis versus flow cytometry (FCM) in diagnosing minimal residual disease (MRD) of children with acute B-cell lymphoblastic leukemia (B-ALL). Methods:Clinical data, NGS-MRD and FCM-MRD findings at the initial diagnosis and after induction chemotherapy of 85 children diagnosed as B-ALL in Children′s Hospital of Nanjing Medical University from July 2019 to July 2021, were retrospectively analyzed.The sensitivity of the two methods, and the positive rate were compared by χ2 test or Fisher′ s test.The correlation was identified by Spearman correlation analysis. Results:Dominant clone sequences were detected in all children at the initial diagnosis by NGS, while selection markers were identified by FCM in 75(88.2%) patients.Positive MRD rate detected by NGS-MRD was significantly higher than that of FCM-MRD at the same time point after induction chemotherapy[31.8%(27/85) vs.9.4%(8/85), P<0.001]. Compared with those of FCM-MRD, NGS-MRD had good sensitivity (100.0%), specificity (75.3%) and negative predictive value (100.0%), and the positive predictive value was 29.6%.MRD results detected by NGS were consistent with that of FCM ( r=0.569, P<0.001). By July 27, 2022, 2 patients with NGS-MRD (+ )FCM-MRD (-)relapsed during maintenance chemotherapy. Conclusions:NGS is highly consistent with FCM in the detection of MRD in children with B-ALL, which is more sensitive.The combination of NGS-MRD and FCM-MRD benefits more in monitoring MRD in children with B-ALL after induction chemotherapy.
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With the progress of medical technology, the survival rate of children with cancer has been conti-nuously improved, and the quality of life of children cancer survivors has become the research direction of modern medicine.Particularly, fertility protection has attracted increasing attention, and some reproductive assistance technologies make it possible to preserve the fertility of cancer groups.In this article, the damage of pediatric cancer treatment to the fertility of male and female patients, existing reproductive protection methods and their effects were summarized.This paper provides a reference for the treatment of pediatric cancer patients and hopes to arouse more people′s awareness of fertility protection.
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With the progress of medical technology, the survival rate of children with cancer has been conti-nuously improved, and the quality of life of children cancer survivors has become the research direction of modern medicine.Particularly, fertility protection has attracted increasing attention, and some reproductive assistance technologies make it possible to preserve the fertility of cancer groups.In this article, the damage of pediatric cancer treatment to the fertility of male and female patients, existing reproductive protection methods and their effects were summarized.This paper provides a reference for the treatment of pediatric cancer patients and hopes to arouse more people′s awareness of fertility protection.
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Epstein-Barr(EB)virus is the first carcinogenic virus discovered in 1964.EBV infection is common in pediatrics and most of the infected children are asymptomatic.When the immune function of children becomes low or deficient, EBV may cause a series of benign or malignant lymphoproliferative diseases, such as infectious mononucleosis, chronic active EBV infection, hemophagocytic lymphohistiocytosis, post-transplant lymphoproliferative disorders, X-linked lymphoproliferative syndrome and so on.Most of these diseases have complex pathogenesis, diverse clinical manifestations, poor prognosis and high mortality.The only effective treatment is allogeneic hematopoietic stem cell transplantation.
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Severe combined immunodeficiency(SCID)is a kind of severe primary immunodeficiency disease.Patients often develop symptoms after birth, which is characterized by recurrent and life-threatening infection, sometimes accompanied by varying degrees of dysplasia.According to the classification proposed by the PID expert Committee of the International Union of Immunological Societies, SCID is clinically classified by the number of lymphocytes.Early screening and intervention of SCID is significant to improve the prognosis.With the promotion of TREC and other early screening methods, the detection rate of SCID has significantly improved, but the accurate detection rate in different ethnic groups still needs further explored.Hematopoietic stem cell transplantation is a traditional therapy for radical cure of SCID.And the safety of gene therapy for SCID has been gradually guaranteed with continuous improvement during recent years.This article will review the classification, early screening methods and treatment progress of SCID.
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Childhood hemophagocytic lymphohistiocytosis (HLH) can be classified into primary and secondary forms.With the progress of diagnosis and treatment of stratified treatment, the prognosis was improved significantly.Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is recommended for the treatment of primary HLH, recurrent/refractory HLH and central nervous system involved HLH.With the development of transplantation technology, transplantation related mortality (TRM) has decreased significantly.In general, remission period of HLH is the best time for transplantation, while in some special situation HSCT can be done when HLH is still active.In addition to HLA matched sibling donors, the survival rates of unrelated matched donors and haploidentical donors were significantly improved.Most of the domestic institution choose the improved myeloablative conditioning as the conditioning regimen.
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Over the past decades, substantial improvements in diagnostics, treatment, techniques and pharmacotherapy have resulted in a steadily increasing population of childhood cancer survivors.Health-related quality of life (HRQoL) of survivors has gradually become the focus of attention.Survivors of cancer in children will face a range of problems, such as physical, psychological and social pressure brought by the disease, growth and development disorders, gonadal dysfunction and late effects (organ dysfunction and secondary cancer). Previous studies have shown that the HRQoL of cancer survivors is significantly lower than that of the normal people, but some studies dedicated that the cancer experience may have a positive impact on the HRQoL of survivors.The quality of life questionnaires is widely used to evaluate HRQoL from the aspects of physical health, mental health and social health.Information from observational, cross-sectional, but particularly longitudinal studies, is needed to further describe HRQoL of cancer survivors in children, as well as provide a foundation for the development of intervention studies.More relevant studies are expected to provide evidence-based basis in making clinical decisions.
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Objectives To investigate the diagnosis, treatment and genetic characteristics of pheochromocytoma (PGL) in children. Methods Clinical characters and gene mutation analysis of a child with PGL were retrospectively analyzed and discussed;similar cases in the literature were reviewed. Results The patient was a 10-year old-boy without obvious complaint but transient headache. Urine 3 methyl-4 hydroxy mandelic acid and homovanillic acid were in normal range, and the pathological reports revealed some malignant cells located at the margin of the tumor, while CT scan of the neck, chest and abdomen were negative, and the cranial plus spine revealed no significant abnormalities by MRI. Gene test of the patient and his parents found mutations in SBHB gene. Thus the diagnosis was confirmed as benign, nonfunctional, extra adrenal pheochromocytoma. The patient was treated with surgery, without chemotherapy, and followed up regularly. Conclusions The diagnosis of PGL relies on pathological analysis, and the classification was made by catecholamine metabolites, imaging results, and gene sequencing. Implementation of chemotherapy was dependent upon if there is any distant or invasive metastasis, or a relapse is present.
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Immune thrombocytopenia (ITP) is the most common hemorrhagic disease in childhood,and immunological abnormality is the most common cause of this disease.Humoral immune abnormalities are the major cause of ITP,involving platelet,platelet membrane surface glycoproteins associated antibodies,impaired Breg cells and upregulation of platelet Toll like receptors.Cellular immune abnormalities include the imbalance of Th1/Th2 cells results in increased inhibitory cytokines [interleukin (IL)-2,interferon-α,tumor necrosis factor-β],IL-17 and Th17 cells in patients with chronic ITP are higher than those in control group,and Treg decline is also common seen in ITP.Increased expression of apoptosis related genes Bak and Bax are also the cause of chronic ITP.Helicobacter pylori is an important cause of chronic ITP,which can be eased in some cases but not effective in new diagnosed cases.Vaccination can lead to ITP,repeated vaccines are applied usually in 3-6 months after the onset.
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Objective To explore the medical care and evacuation equipment at sea in China.Methods The present situation of the medical care and evacuation equipment at sea in China was discussed from the aspects of equipment system,medical service support,mechanism for utilization,management and maintenance as well as informatization.The problems were analyzed in equipment system,support ability,equipment integration and update as well as equipment performances.Results Some measures were put forward from the aspects of equipment system,support ability,equipment integration and update as well as equipment performances.Conclusion The development of medical care and evacuation equipment at sea has to take considerations on medical service requirements at sea,integrated civilian and military uses,personnel,innovation and etc.
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[Abstract ] Objective Nephroblastoma is one of the solid malignancies with fair prognosis in children .The lungs, liver, and bones are the common organs for distant metastasis of the tumor and important factors influencing the therapeutic effects as well .This study was to investigate the clinical characteristics and prognosis of nephroblastoma with distant metastasis in children . Methods We retrospectively analyzed the clinical characteristics , pathological features , and prognosis of 9 cases of nephroblastoma with distant metastasis treated in Nanjing Children Hospital from September 2011 to May 2015 . Results The patients presented with abdominal masses, distention and pain at preliminary diagnosis and confirmed with nephroblastoma , with pulmonary metastasis in 7 cases, liver metastasis in 1, and lung and liver metastases in the other .All were treated by surgery, radiotherapy, and chemotherapy and followed up for a median time of 34 months.By the end of the follow-up, 1 patient died of recurrence , 1 was undergoing chemotherapy , and the other 7 were being recovered, including complete disappearance of lung metastasis in 4, obvious reduction or calcification of lung metastasis in 2, evident disappearance of liver metastasis in 1, but relapse in none. Conclusion Lung and liver are common sites of nephroblastoma metastasis in children .As for the treatment of the disease , relatively good results can be achieved by radiotherapy , chemotherapy , and reoperation .
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Neuroblastoma(NB),the common extracranial solid tumor of childhood,is thought to derive from neural crest cells.In disialoganglioside (GD)2 is highly expressed on NB,whereas GD2 expression is weak and restricted to the central nervous system,peripheral pain fibers and skin melanocytes.Therefore,GD2 is an ideal antigen target for immunotherapy of NB.The research progress on GD2 as target for immunotherapy of NB was reviewed.
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Objective Primitive neuroectodermal tumor ( PNET) is a small round cell tumor occurring mostly in children or young adults and categorized into the Ewing sarcoma family of tumors, the purpose of the study was to investigate the clinical features, treatment and prognosis of Children PNET. Methods A retrospective study was performed on clinical data of 13 children with PNET hospitalized in our hospital from March 2010 to Octorber 2014.In order to analyze the clinical effects and prognostic results, statistical analysis was made on their clinical manifestations, CT and ultrasonic results, therapeutic schemes, postoperative pathology and immu-nohistochemical staining results, along with telephone and outpaitient follow-up of average 19 months. Results Of the 13 patients, 4 cases were central nervous system PNET(CNS-PNET) and 9 cases were peripheral PNET(pPNET).The clinical manifestations of the former were headache, vomiting, convolsion, movement disorder or decreased muscle strength, while the latter mainly showed mas-ses and abdominal distention.3 cases with metastasis to lung, lymph nodes and bones respectively showed masses on surface or in cavi-ty in imaging.Homer-Wright pseudorosette textures were found in 12 patients.Immunohistochemical results showed 11 cases with CD99(+), 9 cases with VIM(+) and 8 cases Syn( +).Among 11 patients underwent chemotherapy, 2 cases were lost to follow-up, 7 cases were in stable condition without occurrence and the other 2 cases recurred 4-6 months after chemotherapy.3 of 4 cases with CNS-PNET survived with the sequelae of decreased muscle strength, convolsion and movement disorder.1 case with CNS-PNET and 1 case with pPNET died 7 months and 16 months after diagnosis respectively. Conclusion PNET in children is a very highly malignant tumor with low long-term survival rate.Immunohistochemi-cal examination including CD99 and VIM is of important diagnostic value and CNS-PNET is prone to sequelae.