Ongoing issues with the management of children with Constitutional Mismatch Repair Deficiency syndrome.

We report the pedigree of a consanguineous family with four affected children. Although clinical and molecular tests confirm CMMRD, genetic testing revealed heterogeneous mutations. The index case developed severe toxicity from therapy for glioblastoma and T-cell leukemia and died from an infection while in complete remission. His sister developed a malignant brain tumor while undergoing surveillance for a low grade brain lesion and is still undergoing follow-up. This family illustrates the difficulties and opportunities with challenging diagnosis, surveillance and choice of therapy for children with CMMRD and the need for increased awareness and more information about this rare but important syndrome. PMID: 31233827 [PubMed - as supplied by publisher]
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research

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Conclusions: Maternal folic acid supplementation was found to have a protective effect against childhood acute lymphoblastic leukaemia. Thus, healthcare professionals are recommended to provide regular health education and health promotion to the community on the benefits of folic acid supplementation during pregnancy. PMID: 31396374 [PubMed - in process]
Source: Journal of Preventive Medicine and Public Health - Category: International Medicine & Public Health Tags: J Prev Med Public Health Source Type: research
pozza Ruggiero The central nervous system (CNS) may be considered as a sanctuary site, protected from systemic chemotherapy by the meninges, the cerebrospinal fluid (CSF) and the blood-brain barrier (BBB). Consequently, parenchymal and CSF exposure of most antineoplastic agents following intravenous (IV) administration is lower than systemic exposure. In this review, we describe the different strategies developed to improve delivery of antineoplastic agents into the brain in primary and metastatic CNS tumors. We observed that several methods, such as BBB disruption (BBBD), intra-arterial (IA) and intracavitary chemo...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
In this study, we reviewed major human studies on the health risks of radiation exposure and showed that sex-related factors may potentially influence the long-term response to radiation exposure. Available data suggest that long-term radiosensitivity in women is higher than that in men who receive a comparable dose of radiation. The report on the biological effects of ionizing radiation (BEIR VII) published in 2006 by the National Academy of Sciences, United States emphasized that women may be at significantly greater risk of suffering and dying from radiation-induced cancer than men exposed to the same dose of radiation....
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
In conclusion, CAR-T treatment combined with intratumoral delivery of poly I:C resulted in synergistic antitumor activity. We thus provide a rationale to translate this immunotherapeutic strategy to solid tumors. Introduction Adoptive T cell immunotherapy has been demonstrated to be a new way to fight malignancies. In particular, T lymphocytes engineered to express chimeric antigen receptor (CAR) have shown great promise in treating hematological malignancies (1). CD19-targeted CAR-T cells have been approved by FDA to treat relapsed B cell acute lymphoblastic leukemia (B-ALL) and Diffuse Large B-cell lymphoma (DLBC...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
In conclusion, we have shown the safety and efficacy of Vemurafenib in a pediatric patient with DS affected by PXA. Ethics Statement This study was carried out in accordance with the recommendations of the Internal Review Board of the Bambino Gesù Children's Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the Internal Review Board of the Bambino Gesù Children's Hospital. Informed Consent The authors declare that written informed consent was obtained from the pat...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Conclusions: CAR T cell therapies have demonstrated the clinical benefits of harnessing our body's own defenses to combat tumor cells. Similar research is being conducted on lesser known modifications and gene-modified immune cells, which we highlight in this review. Introduction Chimeric antigen receptors and engineered T cell receptors (based on previously identified high affinity T cell receptors) function by redirecting T cells to a predefined tumor-specific (or tumor-associated) target. Most of these modifications use retroviral or lentiviral vectors to integrate the construct, and most of the receptors ...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
​I grabbed my cell phone to shut off the alarm even before I opened my eyes. As usual on a Sunday morning, I checked the news before my feet left the warmth of the covers so I wouldn't miss a disaster, a tragedy, a loss to remember in the prayers of the day. That day, the first Sunday of Advent, the news of President George H. W. Bush's death led the news. Tears came to my eyes as I read Marshall Ramsey's tribute to the 41st president in The Washington Post. (Dec. 1, 2018; https://wapo.st/2CqDJ8Q.) The cartoonist's tribute showed a TBM Avenger parked in the clouds with Barbara and Robin Bush waiting for his arrival.I had...
Source: Lions and Tigers and Bears - Category: Emergency Medicine Tags: Blog Posts Source Type: blogs
In conclusion, we show that the mutational profile of pediatric tMN has fewer TP53 mutations and more KMT2Ar than adults, as well as a unique set of mutational signatures. These differences are likely a reflection of age-specific chemotherapeutic strategies and fewer pre-existing TP53 mutant hematopoietic clones in children. Future studies understanding the clonal evolution of pediatric tMN development will be helpful in describing pediatric tMN further.DisclosuresNo relevant conflicts of interest to declare.
Source: Blood - Category: Hematology Authors: Tags: 617. Acute Myeloid Leukemia: Biology, Cytogenetics, and Molecular Markers in Diagnosis and Prognosis: Poster II Source Type: research
Cancer burden in adolescents and young adults (AYAs) is expressed through a large proportion of the quality of life lost on individual level and also causes losses to the society in terms of a decreased productivity and social structure. A specific cancer spectrum and distinctive needs of AYA patients require targeted studies and cancer control measures. Incidence is intermediate between that for children and for older adults, and two-thirds of the AYA cancers affect women. Cancers of the breast and cervix uteri, representing a large portion of the burden, are amenable to prevention. Survival is relatively high, but it is ...
Source: The Cancer Journal - Category: Cancer & Oncology Tags: Review Articles Source Type: research
Abstract Cancer burden in adolescents and young adults (AYAs) is expressed through a large proportion of the quality of life lost on individual level and also causes losses to the society in terms of a decreased productivity and social structure. A specific cancer spectrum and distinctive needs of AYA patients require targeted studies and cancer control measures. Incidence is intermediate between that for children and for older adults, and two-thirds of the AYA cancers affect women. Cancers of the breast and cervix uteri, representing a large portion of the burden, are amenable to prevention. Survival is relativel...
Source: Cancer Journal - Category: Cancer & Oncology Authors: Tags: Cancer J Source Type: research
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