Metastaze u nosnoj šupljini, paranazalnim sinusima i nazofarinksu - prikazi sluučajeva

Uvod: Metastaze u nosnu šupljinu, paranazalne sinuse i nazofarinks su rijetke, ali ako su prisutne tada je najčešće sijelo maksilarni sinus. Prateći simptomi metastaze u navedenim sijelima mogu imitirati druga benigna i češća stanja, a prava etiologija se može predvidjeti i propustiti tijekom duljeg razdoblja. Prikaz slučaja: Prikazujemo dva slučaja s prisutnim tumorskim tvorbama u nosnoj šupljini, paranazalnim sinusima i nazofarinksu s različitom kliničkom slikom i konačnim ishodom. Prvi je slučaj šesnaestogodišnjeg bolesnika sa suspektnom metastazom ekstraosealnog Ewingovog sarkoma lijeve potkoljenice u nazofarinks i desni maksilarni sinus. Sumnja je postavljena nakon snimanja PET/CT-a, a bolesnik nije imao tegobe od strane nosa i paranazalnih šupljina. Patohistološka analiza bioptata ukazala je na upalne promjene bez tumorskih stanica. Drugi je slučaj pedesetsedmogodišnje bolesnice koja se žalila na otežano disanje i učestale epistakse iz lijeve nosnice. Kliničkim pregledom i radiološkom obradom bila je vidljiva tumorska tvorba u lijevom nosnom kavumu, a patohistološka analiza bioptata ukazala je na metastazu karcinoma bubrega. Zaključak: Metastaze u nosnu šupljinu, paranazalne sinuse i nazofarinks vrlo su rijetke. Mogući je širok spektar pratećih simptoma, a njihova odsutnost ne isključuje mogućnost prisutnosti metastaze. Svaki patološki nalaz utvrđen kliničkim pregledom ili radiološkom obradom, te prisutnost tegoba od strane nosa i paranazalnih sinusa kod bolesnika s malignom bolešću zahtjeva pregled i obradu otorinolaringologa

Familial Hemophagocytic Lymphohistiocytosis in a 6-Week-Old Male Infant

Familial hemophagocytic lymphohistiocytosis (FLH) is an autosomal recessively inherited multisystem disease. This defect in cellular cytotoxicity is a life threatening condition characterized by fever, rash, splenomegaly, cytopenias and neurologic manifestations. PRF1, UNC13D and STX11 gene defects underlie in about 40–50% of primary cases. Chemoimmunotherapy followed by hematopoietic stem cell transplantation improved disease outcome. We report a case of a 6-week-old boy who presented with a fever, diffuse rash, disseminated intravascular coagulation, hypofibrinogenemia, hypertrigliceridemia, hepatosplenomegaly, leukocytosis with 90% of lymphocytes, granulocytopenia, anemia, trombocytopenia, hyperferritinemia and pathological findings in cerebrospinal fluid. The patient had decreased frequency of NK cells and low NK cell activity in peripheral blood. Bone marrow aspiration analysis showed degenerative changes of histocyte cells, with preserved cytophages (lymphophages and erythrophages) consistent with hematophagocytic syndrome. Given that the molecular diagnosis of the known mutations in genes PRF1 and UNC13D showed a mutation in UNC13D, the diagnosis of familial hemophagocytic lymphohistiocytosis subtype 3 was established. HLH-2004 chemotherapy protocol was performed and partial remission with residual central nervous system disease was achieved. Hematopoietic stem cell transplantation was successfully performed with an unrelated HLA-matched donor. Familiar HLH is generaly a progressive and fatal disease. Early diagnosis with molecular genetic analysis and chemoimmunotherapy followed by hematopoietic stem-cell transplantation is the best approach

EWING SARCOMA OF THE RIB – CASE REPORT

Ewingov sarkom je jako maligni koštani tumor koji je prvi put u literaturi opisao J a m e s E w i n g 1921. godine (1). Ewingov sarkom se obično javlja u dječjoj ili ranoj adolescentnoj dobi, s najvećom učestalošću između 10. i 20. godine života, premda se može javiti i kod mlađe i starije životne dobi. Najučestalije se javlje u području zdjelice, natkoljenične i nadlaktične kosti te rebara. Ewingov sarkom je po učestalosti pojavljivanja drugi tumor koštanog tkiva kod djece i najmaligniji koštani tumor dječje dobi. Učestalost obolijevanja je 0.3 bolesnika na 1.000.000 djece mlađe od 3 godine i 4.6 djece na 1.000.000 mladih ljudi između 15 i 19 godina života. Prosječna učestalost obolijevanja je ispod 2 bolesnika na 1.000.000 djece na godinu. Odnos muške i ženske djece koja obolijevaju je 1.5:1 (2-6). Preživljavanje kod lokaliziranog tumora je 60-70% oboljelih, 30% preživljavanje je s metastazama po plućima te preživljavanje manje od 10% je s metastazama na drugim mjestima (7, 8). Prikazujemo osmogodišnju djevojčicu s Ewingovim sarkomom na rebru.Ewing sarcoma, a highly malignant primary bone tumor, was first described by James Ewing in 1921 (1). Ewing sarcoma usually presents in childhood or early adulthood, with its peak between 10 and 20 years of age, although it can occur in younger children and older adults. The most common areas in which it occurs are the pelvis, the femur, the humerus and the ribs. Ewing sarcoma is the second most common malignant bone tumor in young patients and it is the most lethal bone tumor. Tumor occurrence ranges from 0.3 cases per 1 000 000 children younger than 3 years to as high as 4.6 cases per 1 000 000 adolescents aged 15-19 years. The annual incidence rate averages less than 2 cases per 1 000 000 children. The male-to-female ratio is 1.5:1 (2-6). Survival rate is 60-70% with low-risk, in a localized tumor, intermediate risk (30%) when the tumor has spread to lungs and advanced risk (less than 10%) when the tumor has spread further to bone, bone marrow and/or other tissue (7, 8). We present an 8 year-old girl with Ewing sarcoma of the rib

Vascular endothelial growth factor in children with neuroblastoma: a retrospective analysis

BACKGROUND: Despite aggressive therapy, advanced stage neuroblastoma patients have poor survival rates. Although angiogenesis correlates with advanced tumour stage and plays an important role in determining the tumour response to treatment in general, clinical data are still insufficient, and more clinical evaluations are needed to draw conclusions. The aim of this study was to evaluate vascular endothelial growth factor (VEGF) expression in patients with neuroblastoma, determine whether it correlates with other prognostic factors and/or therapeutic response, and to assess should VEGF be considered in a routine diagnostic workup. ----- MATERIALS AND METHODS: VEGF expression was determined by immunohistochemistry using anti-VEGF antibody in paraffin embedded primary tumour tissue from 56 neuroblastoma patients. Semiquantitative expression of VEGF was estimated and compared with gender, age, histology, disease stage, therapy, and survival. Statistical analyses, including multivariate analysis, were performed. ----- RESULTS: VEGF expression correlated with disease stage and survival in neuroblastoma patients. Combination of VEGF expression and disease stage as a single prognostic value for survival (P-value = 0.0034; odds ratio (OR) (95%CI) = 26.17 (2.97-230.27) exhibited greater correlation with survival than individually. Hematopoietic stem cell transplantation significantly improved survival of the advanced stage patients with high VEGF expression. ----- CONCLUSION: VEGF expression should be considered in a routine diagnostic workup of children with neuroblastoma, especially in those more than 18 months old and with advanced disease stage. High VEGF expression at the time of disease diagnosis is a bad risk prognostic factor, and can be used to characterize subsets of patients with an unfavourable outcome

Treatment of rhabdomyosarcoma in children and adolescent from four low health expenditures average rates countries

Survival of children with cancer in Eastern and Central Europe is 10–20% lower than in high income European countries. We evaluated outcome of children and adolescents with rhabdomyosarcoma (RMS) in Slovenia, Croatia, Slovakia and in Romania

Mast‐cell sarcoma of the tibia

The mast‐cell sarcoma of a bone is described here for the first time. The tumour presented in a 4‐year‐old boy, with pain, oedema and deformation of his right lower leg. Radiological findings revealed a destructive tumourous mass. Histopathological examination showed the tumour to be composed of large, atypical cells, with hyperchromatic oval and polygonal nuclei. The cytoplasm around them was eosinophilic with many basophilic and toluidine‐blue‐positive granules. These atypical mast cells were positive for chloroacetate esterase, c‐kit, tryptase and negative for myeloperoxidase. The primary disease quickly progressed to mast‐cell leukaemia, and despite intensive chemotherapy the patient died 18 months after first symptoms