INVASIVE FUNGAL INFECTIONS IN CHILDREN TREATED FOR HEMATOLOGIC MALIGNANCIES - A FIVE-YEAR SINGLE CENTER EXPERIENCE.

Invasive fungal infections (IFI) are life-threatening complications of intensive chemotherapy treatment, with the incidence in pediatric patients ranging from 2% to 21%. In this article, we describe our 5-year experience of IFI in pediatric oncology patients and its clinical manifestations with radiological findings, treatment and outcome. A retrospective and descriptive survey of IFI in children with hematologic neoplasms was conducted at the Department of Oncology and Hematology, Zagreb Children's Hospital. Medical charts of children 0-17 years of age, of both sexes, treated for leukemias and lymphomas from January 2016 to December 2020 were reviewed. In a 5-year period, 60 patients were treated for hematologic malignancy, acute lymphoblastic leukemia (ALL) being the most prevalent diagnosis. IFI was verified in 9 (15%) children, predominantly in patients with ALL (75%). The specific causative agent was detected in one child, whereas other infections were classified as probable pulmonary aspergillosis. All the patients received standard prophylaxis with fluconazole and treatment with liposomal amphotericin B and voriconazole. The majority of our patients achieved recovery. IFI prevention, diagnosis and treatment remain a challenge. Uniform prophylaxis and therapy protocols, as well as environmental control are of vital importance for the development of better strategies in the prevention, early detection and treatment of IFI in pediatric hematology patients.

Melanotic Neuroectodermal Tumor of Infancy of the Upper Arm.

OBJECTIVE: To present a case of a 6-month-old infant with melanotic neuroectodermal tumor of infancy (MNTI) in the upper arm. CLINICAL PRESENTATION AND INTERVENTION: A 6-month-old female presented with a well-circumscribed lesion of the upper arm at the Children's Hospital Zagreb. A biopsy was performed and microscopy revealed 2 cell populations consisting of small neuroblastic cells and larger melanin-containing epithelial cells. An excisional biopsy performed 1 month later confirmed the initial diagnosis of MNTI, but the tumor had increased in size since the initial biopsy. After complete surgical excision the patient recovered well with no recurrence. CONCLUSION: The MNTI located in the upper arm was diagnosed on first biopsy and surgically excised completely. The patient recovered without recurrence in a follow-up of 2.5 years.

Malignant Peripheral Nerve Sheath Tumor of the Inguinum and Angiosarcoma of the Scalp in a Child with Neurofibromatosis Type 1.

Benign and malignant tumors are common in the setting of neurofibromatosis type 1 (NF1). Malignant peripheral nerve sheath tumor (MPNST) and angiosarcoma are rare tumors in children and adolescents and mostly occur in young patients in relation to NF1. Both histological types can be present in the same tumor mass in patients with NF1. We present a case of 12.5-year-old girl with NF1 who first presented with MPNST of the right inguinal region and 1.5 years later with unrelated angiosarcoma of the scalp.

Pseudocholinesterase activity in cerebrospinal fluid as a biomarker of solid central nervous system tumors in children.

AIM: To determine the activity of pseudocholinesterase (PChE) in cerebrospinal fluid (CSF) and serum in children with solid central nervous system (CNS) tumor and to assess whether PChE activity could be a valid biomarker for solid CNS tumors in children. METHODS: The study and control group included 30 children each. Children in the study group had a solid CNS tumor, while those from the control group had never suffered from any tumor diseases. CSF and serum samples were collected from all participants and PChE activity was determined using the Ellman's spectrophotometric method. PChE activity in CSF was shown as a cerebrospinal fluid/serum ratio expressed in percentage, ie, PChE CSF/serum ratio. Receiver operating characteristic (ROC) curve was used to assess whether PChE activity can be used as a biomarker for identifying children with solid CNS tumors. RESULTS: Children with solid CNS tumor had significantly higher PChE activity in CSF and serum, as well as PChE CSF/serum ratio (P=0.001). PChE CSF/serum ratio in the study group was 2.38% (interquartile range [IQR] 1.14-3.97) and 1.09% (IQR 0.95-1.45) in the control group. ROC curve analysis of PChE CSF/serum ratio resulted in an area under the curve (AUC) value of 0.76 (95% confidence interval [CI] 0.63-0.88) and a cut-off of 1.09. Twenty five of 29 patients with elevated PChE CSF/serum ratio had a tumor, corresponding to a sensitivity of 83% and a specificity of 53%. CONCLUSION: PChE CSF/serum ratio may be used as a test or biomarker with good sensitivity for solid CNS tumors in children.

Contraception-related deep venous thrombosis and pulmonary embolism in a 17-Year-old girl heterozygous for factor V leiden, prothrombin G20210A mutation, MTHFR C677T and homozygous for PAI-1 mutation: report of a family with multiple genetic risk factors and review of the literature.

We present the case of a 17-year-old girl who suddenly woke up with localized pain in the left groin and the inability to twist her leg. After comprehensive physician and laboratory examinations, deep venous thrombosis with consequent pulmonary embolism was ascertained. She had not experienced any recent trauma, but she had started to take oral contraceptives 6 months prior to the onset of the symptoms. Her parents and sisters had been asymptomatic throughout their lives, but the family history revealed a few thromboembolic accidents. Using DNA analysis, heterozygosity for factor V Leiden, prothrombin gene mutation G20210A and methylenetetrahydrofolate reductase C677T, as well as the homozygous 4G/4G genotype in the plasminogen activator inhibitor 1 were identified in our patient. Subsequently, DNA analysis was performed in all living family members, and multiple factors associated with thrombophilia were discovered. Our case confirms the multifactorial cause of thromboembolic events and emphasizes the importance of oral contraceptive use in the onset of venous thrombosis, especially in teenage females. In addition, this case indicates that teenage females with a family history of thrombosis who are making choices about contraception could most likely benefit from advanced thrombophilia testing.