Dziecięcy guz Abrikossoffa w rzadkiej lokalizacji

  Abrikossoff tumor is an uncommon neoplasm of soft tissue, mostly benign but cases of aggressive malignant form with metastases were also reported. GCT can occur at any area of the body (head and neck are the most common but also limbs and vulva). Local surgical excision with wide margin is a treatment of choice but possibility of recurrence, multiple location and malignancy in time must be considered. This report presents a rare pediatric case with Abrikossoff tumor.Abrikossoff tumor is an uncommon neoplasm of soft tissue, mostly benign but cases of aggressive malignant form with metastases were also reported. GCT can occur at any area of the body (head and neck are the most common but also limbs and vulva). Local surgical excision with wide margin is a treatment of choice but possibility of recurrence, multiple location and malignancy in time must be considered. This report presents a rare pediatric case with Abrikossoff tumor

Multiple primary cranio-spinal tumours in a 13-year-old female with neurofibromatosis type 2 management strategy

# The Author(s) 2010. This article is published with open access at Springerlink.com Introduction Neurofibromatosis type 2 (NF2) is an inherited, rare autosomal dominant syndrome characterised by the development of multiple benign cranial and spinal tumours, peripheral neuropathy, ophthalmological and cutaneous lesions. Herein, we report one case of NF

Ostatecznie gruźlica, a nie choroba nowotworowa. Prezentacja trzech przypadków pediatrycznych

Gruźlica wieku dziecięcego należy obecnie w krajach wysoko rozwiniętych do rzadkości. W pracy zaprezentowano przypadki trojga dzieci z objawami nasuwającymi podejrzenie choroby nowotworowej, u których ostatecznie dzięki interwencji chirurgicznej rozpoznano gruźlicę (węzłowo-płucną, wielonarządową oraz ściany klatki piersiowej). Tylko u jednej pacjentki uzyskano potwierdzenie bakteriologiczne. Objawy gruźlicy wymagają różnicowania z chorobą nowotworową. Chirurg, który pobiera materiał diagnostyczny, powinien pamiętać o wykonaniu badań bakteriologicznych w kierunku gruźlicy. Forum Medycyny Rodzinnej 2010, tom 4, nr 6, 464–47

Is there an association between hereditary hemochromatosis and colon cancer in children?

Colon cancer is very rare in children and adolescents, so it remains in an advanced stage at diagnosis. Hereditary hemochromatosis (HH) is an autosomal recessive disease in which iron overload leads to dysfunction of several organs. Elevated body iron stores has association between HFE genotype and risk for some types of cancer. There are HFE gene mutations, including the C282Y and the H63D mutation in the majority of individuals with phenotypic hemochromatosis. The HFE gene mutations may predispose to an increasing risk of colon cancer. Careful clinical and colonoscopic evaluation in patients with these mutations may lead to detect cancer at an earlier stage. We report a case of adenocarcinoma of the colon in 17-year old male with HH and risk of gastrointestinal cancer in patients with hemochromatosis gene mutations.Colon cancer is very rare in children and adolescents, so it remains in an advanced stage at diagnosis. Hereditary hemochromatosis (HH) is an autosomal recessive disease in which iron overload leads to dysfunction of several organs. Elevated body iron stores has association between HFE genotype and risk for some types of cancer. There are HFE gene mutations, including the C282Y and the H63D mutation in the majority of individuals with phenotypic hemochromatosis. The HFE gene mutations may predispose to an increasing risk of colon cancer. Careful clinical and colonoscopic evaluation in patients with these mutations may lead to detect cancer at an earlier stage. We report a case of adenocarcinoma of the colon in 17-year old male with HH and risk of gastrointestinal cancer in patients with hemochromatosis gene mutations

Association between intestinal and antioxidant barriers in children with cancer

Objective: Reactive oxygen species (ROS) play a role in cancerogenesis processing and damage tissues. Furthermore, oncological treatment may impair proper function of the gut barrier. The aim of this study was to measure intestinal permeability in children in clinical remission for solid tumours and to search for a possible relationship between free radicals and the intestinal barrier. No such investigation in children has been reported so far. Research Methods and Procedures: The prospective study consisted of 19 paediatric patients with cancer after completion of chemotherapy. 32 healthy children from the outpatients clinics were recruited for measurement of intestinal permeability and antioxidant barrier as a control group. Intestinal permeability was assessed by measurement of urinary lactulose and mannitol after oral challenge. Antioxidant enzymes: superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) in erythrocytes were assessed. Ischemia modified albumin (IMA) concentration was measured in serum. Results: Cancer patients excreted less mannitol and more lactulose versus controls. The ratio of lactulose to mannitol was significantly higher in oncological children vs control (mean 0.188 and 0.0453, respectively, p=0.0006,). Significantly higher IMA level in the oncological group vs control was noted (mean 123.8 and 87.3 U/ml, respectively, p=0.0037). No correlation between intestinal permeability and oxidative stress barrier was found. Conclusions: Our data shows that intestinal barrier is damaged in paediatric cancer patients after chemotherapy. IMA is believed to play a protective role in the defence against tissue damage. No correlation was found between these two barriers

Thymoma and thymic carcinoma in children and adolescents: A report from the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT)

BACKGROUND: Thymomas and thymic carcinomas belong to a group of thymic epithelial tumours arising from the anterior mediastinum and, are extremely rare in children in which no therapeutic guidelines have been established. The aim is to describe paediatric characteristics of these tumours and give some therapeutic indications. METHODS: Retrospective analysis of clinical data and therapeutic characteristics of paediatric patients less than 18years with thymic tumours treated between 2000 and 2012 registered in the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) database of the cooperating national rare paediatric tumour working groups from France, Italy, Germany and Poland. RESULTS: Sixteen children with thymoma, median age 11years and 20 patients with thymic carcinoma, median age 14years were enrolled into study. At diagnosis complete primary resection was possible in 11 patients with thymoma and one with thymic carcinoma; resection with microscopic residue was performed in three cases and incomplete resection with macroscopic residue in four patients. Chemotherapy with various regimens was administered to 22 children; 17 of them as neoadjuvant chemotherapy. Eight patients with thymic carcinoma received additional radiotherapy. Seventeen children died (15 thymic carcinoma, two thymoma). Five-year overall survival for patients with thymic carcinoma is 21.0\ub110.0%. CONCLUSIONS: This study confirms the possibility to perform European retrospective analysis even in very rare paediatric tumours. Thymic carcinoma is associated with paediatric patients to give a very poor prognosis independently despite multimodal management. Multidisciplinary, multicenter approach and collaboration with adults' physician are necessary in order to propose homogenous guidelines

Cancer Stem Cell Markers—Clinical Relevance and Prognostic Value in High-Grade Serous Ovarian Cancer (HGSOC) Based on The Cancer Genome Atlas Analysis

Cancer stem cells (CSCs) may contribute to an increased risk of recurrence in ovarian cancer (OC). Further research is needed to identify associations between CSC markers and OC patients’ clinical outcomes with greater certainty. If they prove to be correct, in the future, the CSC markers can be used to help predict survival and indicate new therapeutic targets. This study aimed to determine the CSC markers at mRNA and protein levels and their association with clinical presentation, outcome, and risk of recurrence in HGSOC (High-Grade Serous Ovarian Cancer). TCGA (The Cancer Genome Atlas) database with 558 ovarian cancer tumor samples was used for the evaluation of 13 CSC markers (ALDH1A1, CD44, EPCAM, KIT, LGR5, NES, NOTCH3, POU5F1, PROM1, PTTG1, ROR1, SOX9, and THY1). Data on mRNA and protein levels assessed by microarray and mass spectrometry were retrieved from TCGA. Models to predict chemotherapy response and survival were built using multiple variables, including epidemiological data, expression levels, and machine learning methodology. ALDH1A1 and LGR5 mRNA expressions indicated a higher platinum sensitivity (p = 3.50 × 10−3; p = 0.01, respectively). POU5F1 mRNA expression marked platinum-resistant tumors (p = 9.43 × 10−3). CD44 and EPCAM mRNA expression correlated with longer overall survival (OS) (p = 0.043; p = 0.039, respectively). THY1 mRNA and protein levels were associated with worse OS (p = 0.019; p = 0.015, respectively). Disease-free survival (DFS) was positively affected by EPCAM (p = 0.004), LGR5 (p = 0.018), and CD44 (p = 0.012). In the multivariate model based on CSC marker expression, the high-risk group had 9.1 months longer median overall survival than the low-risk group (p < 0.001). ALDH1A1, CD44, EPCAM, LGR5, POU5F1, and THY1 levels in OC may be used as prognostic factors for the primary outcome and help predict the treatment response

Thymoma and thymic carcinoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations

Thymic tumors are epithelial tumors arising from the anterior mediastinum and constitute 0.2-1.5% of all adult malignancies but are exceptional in pediatric population. Thymic epithelial tumors (TETs) encompass a variety of histologic subtypes associated with different clinical outcomes. Due to its rarity in children, TETs' management requires a multidisciplinary approach. However, prognosis remains still poor, especially among patients with thymic carcinoma. This study presents the internationally recognized recommendations for the diagnosis and treatment of thymic tumors in children and adolescents, established by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) group within the EU-funded project Paediatric Rare Tumours Network - European Registry (PARTNER)