Difficulties in the management of an Askin tumor in a pediatric patient with cystic fibrosis: case report and literature review.

Treating Ewing's Sarcoma of the thorax (Askin's tumor) with antineoplastic therapy in a malnourished cystic fibrosis patient colonized with Pseudomonas aeruginosa and Staphylococcus aureus may carry a significant potential for complications. We present the case of a known cystic fibrosis patient, diagnosed with Askin's tumor 5 years ago. Despite facing severe neutropenia, exacerbations of cystic fibrosis with Pseudomonas aeruginosa infections, and challenges in maintaining adequate caloric intake during the oncological treatment, the patient's outcome has been favorable. Chemotherapy doses had to be adjusted, and continuous antibiotic treatment was introduced throughout the course of therapy to reduce the frequency and intensity of exacerbations. Approximately 5 years after the cancer diagnosis, with no signs of relapse, the patient was started on CFTR (Cystic fibrosis transmembrane conductance regulator) modulator treatment. This intervention has successfully corrected the weight deficit. The coincidence of Ewing's sarcoma of the chest wall and cystic fibrosis in a single patient is 2.857 × 10-5% and to the best of our knowledge, this scenario has not been documented before.

Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.

Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder (about 200 cases reported), characterized by macrocephaly, hypertelorism, and polysyndactyly. Most of the reported GCPS cases are the results of heterozygous loss of function mutations affecting the GLI3 gene (OMIM# 175700), while a small proportion of cases arise from large deletions on chromosome 7p14 encompassing the GLI3 gene. To our knowledge, only 6 patients have been reported to have a deletion with an exact size (given by genomic coordinates) and a gene content larger than 1 Mb involving the GLI3 gene. This report presents a patient with Greig cephalopolysyndactyly contiguous gene syndrome (GCP-CGS) diagnosed with a large, 18 Mb deletion on chromosome 7p14.2-p11.2. Similar cases are reviewed in the literature for a more accurate comparison between genotype and phenotype.

Polyphenols Targeting MAPK Mediated Oxidative Stress and Inflammation in Rheumatoid Arthritis.

Rheumatoid arthritis (RA) is a chronic, systemic, autoimmune disorder, predominantly symmetric, which causes joint inflammation, cartilage degeneration and bone erosion, resulting in deformity and the loss of physical function. Although the management of RA has steadily improved, the pathophysiological mechanism is incompletely elucidated, and therapeutic options are still limited. Due to shortcomings in the efficacy or safety profiles of conventional RA therapies, therapeutic alternatives have been considered. Therefore, natural extracts containing polyphenolic compounds can become promising adjuvant agents for RA global management, due to their antioxidant, anti-inflammatory and apoptotic properties. Polyphenols can regulate intracellular signaling pathways in RA and can generate different immune responses through some key factors (i.e., MAPK, interleukins (ILs 1 and 6), tumor necrosis factor (TNF), nuclear factor light k chain promoter of activated receptor (NF-κB), and c-Jun N-terminal kinases (JNK)). The critical function of the Toll like-receptor (TLR)-dependent mitogen-activating protein kinase (MAPK) signaling pathway in mediating the pathogenic characteristics of RA has been briefly discussed. Oxidative stress can trigger a change in transcription factors, which leads to the different expression of some genes involved in the inflammatory process. This review aims to provide a comprehensive perspective on the efficacy of polyphenols in mitigating RA by inhibiting signaling pathways, suggesting future research perspectives in order to validate their use.

Unusual extramedullary relapses in a case of common B-cell acute lymphoblastic leukemia. Case report and review of literature.

BACKGROUND: Acute lymphoblastic leukemia (ALL) represents the most common malignancy in children with an overall cure rate of 85%. Relapses occur in 20% of the cases. Commonly, extramedullary relapses (EMRs) involve central nervous system (CNS) or testes. Unusual EMRs in ALL are relatively rare reported. CASE PRESENTATION: The authors present a 24-year-old woman with ALL, who experienced three unusual EMRs. In 2007, she was diagnosed with B-cell precursor (BCP)-ALL - high-risk (HR) group, and she was treated according to ALL Intercontinental Berlin-Frankfurt-Münster (IC-BFM) 2002∕HR Protocol. She entered complete remission (CR). In 2012, a vaginal wall solid mass infiltrate occurs. Biopsy concluded for EMR of ALL. Chemotherapy was restarted; the patient responded again with CR. Magnetic resonance imaging (MRI) and positron emission tomography∕computed tomography (PET∕CT) examinations during follow-up revealed supraclavicular, mesenteric, and retroperitoneal lymphadenopathies (2014). Pathological examination of the supraclavicular lymph node showed a benign pattern: schwannoma. The patient's evolution worsened, imposing a biopsy from the retroperitoneal tumor which revealed a second EMR of ALL. Again, ALL-REZ BFM 2002 Protocol was started, followed by haploidentical mother-to-child peripheral blood hematopoietic stem cell transplantation (HSCT). After suffering a few managed complications related to the transplant, our patient achieved CR again. In 2017, 10 years after the initial diagnosis, the patient presented for the third time an EMR (gastric wall) and eventually died due to progression of the disease. CONCLUSIONS: The patient presented an extremely aggressive type of ALL with three unusual EMRs: vaginal, retroperitoneal and gastric.