The Association of Malignancies with The Clinical Profile of Children with Neurofibromatosis Type 1

Neurofibromatosis type 1 (NF-1) is a significant autosomal dominant disorder with a wide spectrum of clinical findings. These signs (Café au lait spots, bone dysplasia, Lisch nodules) usually start to emerge after the first months of life and most are benign in nature. On the other hand, neoplasms (optic glioma, neurofibroma, malignant peripheral nerve sheath tumor, soft tissue sarcoma, leukemia, breast cancer) are a major cause of morbidity and mortality in NF-1 patients. Cancer risk during the lifetime of an NF-1 patient is almost 10 times more than a person without NF-1, but what drives these patients into cancer is still unknown. This study aims to analyze the possible association of clinical findings with malignancies in children with NF-1. Medical records of 55 children with NF-1 who were followed up in a tertiary care pediatric oncology clinic between January 2005 and December 2014 were analyzed. We assessed clinical and demographic characteristics of patients, as well as the NF-1 diagnostic criteria, NF-1 related complications, and malignancies. The NF-1 patients without malignancy were classified in Group 1 while patients with malignancy were in Group 2. Logistic regression analysis was used to determine the risk factors of malignancy in NF-1. The mean age was 7.68 ± 4.65 years. Female sex was dominant in both groups. Café au lait spots were present in all patients. Axillary-inguinal freckling was observed in 76.4% of patients, followed by neurofibromas in 30.9%, Lisch nodules in 29.1%, bone dysplasia in 14.5%, optic gliomas in 23.6%, and a history of first degree relative with NF-1 in 63.6%. Central nervous system (CNS) tumors were present in 40%. Tumors other than CNS tumors were acute myeloid leukemia and schwannoma. None of the diagnostic criteria was a risk factor for predisposing to malignancy by itself. Having >3 criteria was found to be the risk factor for malignancy in NF-1 (OR:5.891, CI 95%: 1.676-20.705, p=0.006). There are no clearly defined risk factors predicting occurance of malignancies in NF-1 at present. However, we found a higher risk of malignancy association in patients who meet more than 3 diagnostic criteria of NF-1

Gorham-Stout Syndrome with Chylothorax in a Six-Year-Old Boy

WOS: 000291250000012PubMed ID: 21188554Gorham-Stout syndrome, also called "disappearing bone disease, diffuse cystic angiomatosis of bone, disseminated lymphangiomatosis, Gorham's vanishing bone disease, phantom bone disease or idiopathic massive osteolysis, is a rare disease of unknown etiology and pathogenesis. It is characterized by rapidly progressive localized massive osteolysis associated with proliferation of vascular structures of benign origin in which the absence of new bone formation is representative. When it is complicated by chylothorax, the prognosis is poor. The authors report a 6-year-old boy with Gorham-Stout syndrome who presented with pleural effusion showing features of chylothorax, who responsed poorly to currently available therapeutic modalities

Perianal Necrotizing Fasciitis in a Neonate

A two-week-old term male infant, weighing 1,600 grams was transferred to the neonatology unit of Doküz Eylul University hospital with sharply demarcated cutaneous gangrene surrounding the perianal region. He did well at birth. In his history, on the 10th postnatal day, a red, painful, warm cutaneous lesion was observed which was thought to be secondary to repeated and inappropriate rectal temperature measurements. Besides an ill-appearing child, a nontender frank cutaneous gangrene developed within several days. Klebsiella pneumoniae was cultured from the involved area. Blood cultures were negative. A frozen section of soft tissue biopsy could not be performed because of the localization of the lesion. The patient was successfully treated by surgical debridement and high doses of parenteral antibiotics

EWSR1(22q12) Translocation Positive Pediatric Adrenal Tumor with Loss of 1p, 11q, and Unbalanced Gain of 17q: Neuroblastoma or Ewing Sarcoma?

Background: Although neuroblastoma and Ewing sarcoma/Primitive neuroectodermal tumor are different clinical entities, they are both a member of small round blue cell tumors and can mimic each other's behavior in clinical and molecular aspects. Case report: A 3 year-old girl with an abdominal mass was found to have a small round blue cell tumor originating from the right adrenal gland. High level of neuron specific enolase, initial genetic test results (N-Myc amplification: negative, loss of 1p, 11q, and unbalanced gain of 17q) and characteristic radiological appearance of the tumor suggested a preliminary diagnosis of neuroblastoma but further analysis showed CD99 expression and presence of EWSR1 rearrangement, which are mostly observed in Ewing sarcoma. Conclusion: Adrenal gland tumors of childhood with complex immunophenotypic features requires distinguishing two discrete tumors in the small round blue cell tumor group, neuroblastoma and Ewing sarcoma. Although no exact diagnosis of the tumor was made, we reached a good response with neuroblastoma treatment protocol

Prognostic factors and treatment results of pediatric Hodgkin's lymphoma: A single center experience

The aim of this study was to assess the demographic, clinic data, prognostic factors and treatment/follow-up results of children who were diagnosed with Hodgkin lymphoma and followed in our center of Pediatric Oncology, Kocaeli University Medical Faculty, Kocaeli, Turkey, for 10 years. This retrospective study evaluated 41 patients with Hodgkin lymphoma who were younger than 18 years-old. All patients were treated with risked adapted ABVD (Adriamycin, Bleomycin, Vincristine, Dacarbazine) chemotherapy and also received involved field radiotherapy

The Performance of Radiographic Criteria for Bone Malignancy When Applied to Computed Tomography and Magnetic Resonance Imaging

WOS: 000429481400015PubMed ID: 30479294Background: The conventional radiologic features that differentiate benign from malignant bone lesions were originally described using radiography (x-ray [XR]). When evaluating sectional imaging studies such as magnetic resonance imaging (MRI) and computed tomography (CT), one may apply these principles to identify malignant bone lesions. The aim of this study was to evaluate the performances of these radiographic features for detecting malignity when applied to CT and MRI. Materials and Methods: This retrospective study was approved by our institutional ethical board. Thirty-nine patients with histopathologic proof of a high-grade bone malignancy and preoperative imaging data obtained with a minimum of two different modalities were included in the study. Four radiologists reviewed the images and scored the lesions for distinctness of margins, presence and type of periosteal reaction, matrix mineralization, and presence of soft tissue mass. The average score for each modality was then tested for accuracy with regard to the histopathology. Results: When lesion margins were considered, XR was the best modality to detect a high-grade malignancy. MRI, especially post-contrast T1-weighted sequence, was the least helpful in this regard. There was no significant difference between CT and XR and between CT and MRI. When the periosteal reaction was considered, XR was the best modality to detect the malignant type of periosteal reaction. In this regard, MRI and CT were misleading; either by not detecting or undergrading periosteal reaction. MRI was the best modality to detect soft tissue mass. Conclusion: Conventional imaging criteria for bone malignancy can be misleading when applied to MRI or CT. When cross-sectional imaging features contradict those from XR, the latter should be the guide for clinical management