Giant Cell Tumor of Bone Without Giant Cells with a Long Clinical Course: A Case Report.

Giant cell tumor of bone (GCTB) consists of a mixture of neoplastic mononuclear cells and non-neoplastic cells, including polynuclear giant cells. Recently, with the spread of the immunohistochemical staining marker H3.3 G34W corresponding to specific genetic abnormalities, the histological diversity of GCTB has been recognized. GCTB without giant cells is uncommon, although it has also been reported previously. Herein, we describe a 45-year-old man with GCTB without giant cells who was successfully diagnosed using H3.3 G34W immunohistochemistry. Other unusual findings in GCTB that were identified in this patient include bone and osteoid formation with a long clinical course of 13 years. We also compared the histological findings of the current patient to those who received denosumab therapy.

A dermoid cyst misdiagnosed as a lipoma due to atypical magnetic resonance images: a case report.

BACKGROUND: Dermoid cysts are well-known lesions that manifest as subcutaneous tumors around the lateral sides of the eyebrows in young patients. Computed tomography or magnetic resonance imaging (MRI) is often performed to confirm the diagnosis. On the other hand, a lipoma is usually a circular lesion, which is sometimes observed in the upper part of the face. The signals of both T1-weighted and T2-weighted images of MRI of a lipoma are, in general, relatively highly homogenous, and the signals decrease in fat-suppressed images. Therefore, differential diagnosis between a dermoid cyst and a lipoma is usually made with MRI, especially based on fat-suppressed images. Here, we present a case of misdiagnosis of a dermoid cyst as a lipoma because of atypical magnetic resonance images. CASE PRESENTATION: We report a case of a 24-year-old Japanese woman with a dermoid cyst around the lateral edge of the eyebrow. The cyst had been gradually increasing in size for the past 2 years. On MRI, it showed high internal signals on T1- and T2-weighted images. However, the signal intensity decreased homogeneously in the fat-suppressed T2-weighted images. The observed tumor had a yellowish appearance under the endoscope. On the basis of these findings, the lesion was considered a lipoma until it ruptured intraoperatively. The pathological diagnosis confirmed it to be a dermoid cyst. CONCLUSION: Some dermoid cysts contain lipid-rich liquid, and these may be misdiagnosed as lipomas by MRI. When a tumor is located at a common site for a dermoid cyst, the MRI images should be validated carefully if it appears like a lipoma, and the differential diagnosis should be considered carefully.

BRAF V600E mutation mediates FDG-methionine uptake mismatch in polymorphous low-grade neuroepithelial tumor of the young.

We present a case of a 14-year old boy with tumor-associated refractory epilepsy. Positron emission tomography imaging demonstrated a region with heterogeneous high 11C-methionine uptake and a region with homogenous low 18F-fluorodeoxyglucose uptake within the tumor. Histopathological and genomic analyses confirmed the tumor as BRAF V600E-mutated polymorphous low-grade neuroepithelial tumor of the young (PLNTY). Within the high-methionine-uptake region, we observed increased protein levels of L-type amino acid transporter 1 (LAT1), a major transporter of methionine; c-Myc; and constituents of the mitogen-activated protein kinase (MAPK) pathway. We also found that LAT1 expression was linked to the BRAF V600E mutation and subsequent activation of MAPK signaling and c-Myc. Pharmacological and genetic inhibition of the MAPK pathway suppressed c-Myc and LAT1 expression in BRAF V600E-mutated PLNTY and glioblastoma cells. The BRAF inhibitor dabrafenib moderately suppressed cell viability in PLNTY. Collectively, our results indicate that BRAF V600E mutation-activated MAPK signaling and downstream c-Myc induces specific metabolic alterations in PLNTY, and may represent an attractive target in the treatment of the disease.

Pediatric oncologic emergencies: Clinical and imaging review for pediatricians.

Children with cancer are at increased risk of life-threatening emergencies, either from the cancer itself or related to the cancer treatment. These conditions need to be assessed and treated as early as possible to minimize morbidity and mortality. Cardiothoracic emergencies encompass a variety of pathologies, including pericardial effusion and cardiac tamponade, massive hemoptysis, superior vena cava syndrome, pulmonary embolism, and pneumonia. Abdominal emergencies include bowel obstruction, intussusception, perforation, tumor rupture, intestinal graft-versus-host disease, acute pancreatitis, neutropenic colitis, and obstructive uropathy. Radiology plays a vital role in the diagnosis of these emergencies. We here review the clinical features and imaging in pediatric patients with oncologic emergencies, including a review of recently published studies. Key radiological images are presented to highlight the radiological approach to diagnosis. Pediatricians, pediatric surgeons, and pediatric radiologists need to work together to arrive at the correct diagnosis and to ensure prompt and appropriate treatment strategies.

MR imaging findings in some rare neurological complications of paediatric cancer.

Neurological complications of paediatric cancers are a substantial problem. Complications can be primary from central nervous system (CNS) spread or secondary from indirect or remote effects of cancer, as well as cancer treatments such as chemotherapy and radiation therapy. In this review, we present the clinical and imaging findings of rare but important neurological complications in paediatric patients with cancer. Neurological complications are classified into three phases: pre-treatment, treatment and post-remission. Paraneoplastic neurological syndromes, hyperviscosity syndrome, haemophagocytic lymphohistiocytosis and infection are found in the pre-treatment phase, while Trousseau's syndrome, posterior reversible encephalopathy syndrome and methotrexate neurotoxicity are found in the treatment phase; though some complications overlap between the pre-treatment and treatment phases. Hippocampal sclerosis, radiation induced tumour, radiation induced focal haemosiderin deposition and radiation-induced white matter injury are found in the post-remission phase. With increasingly long survival after treatment, CNS complications have become more common. It is critical for radiologists to recognise neurological complications related to paediatric cancer or treatment. Magnetic resonance imaging (MRI) plays a significant role in the recognition and proper management of the neurological complications of paediatric cancer. TEACHING POINTS: • Neurological complications of paediatric cancer include various entities. • Neurological complications are classified into three phases: pre-treatment, treatment and post-remission. • Radiologists should be familiar with clinical and imaging findings of neurological complications. • MRI features may be characteristic and lead to early diagnosis and proper treatments.

Appropriate imaging utilization in Japan: a survey of accredited radiology training hospitals.

PURPOSE: To survey whether imaging is being performed appropriately in Japan, and to survey whether radiologists intervene to ensure imaging requests are appropriate. METHODS: An online survey was sent to radiologists at accredited radiology training hospitals. The survey included the radiologists' perspectives on whether imaging is performed appropriately at their institutions and whether they intervene if the indication for imaging is inappropriate/ambiguous. RESULTS: The response rate was 87.3% (165/189). We observed marked variability in the frequencies that imaging not recommended by the guidelines was performed among modalities and/or body parts; the responses "very frequently/frequently performed" were more common for breast cancer related imaging examinations and for head CT/MRI. The respondents frequently reported that inappropriate/ambiguous indications included requests to expand the craniocaudal range or to perform whole-body imaging. In 80% of the hospitals (132/165), radiologists contacted the physicians who requested unrecommended examinations; the number of CT and MRI examinations that full-time radiologists need to interpret in a half-day session was significantly smaller at these hospitals (median 18 vs 24, P = 0.032). CONCLUSION: We conducted a survey to investigate appropriate imaging utilization in Japan. At the hospitals with numerous examinations to interpret, full-time radiologists may find it difficult to ensure that examinations are ordered appropriately.

A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy.

Vanishing white matter disease (VWM)/childhood ataxia with central hypomyelination (CACH) is an autosomal recessive leukoencephalopathy caused by mutations in one of five genes, EIF2B1-5, encoding the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B). The classical phenotype is characterized by early childhood onset and chronic progressive neurological deterioration with cerebellar ataxia, spasticity, optic atrophy and epilepsy. However, the onset of disease varies from antenatal period to adulthood. Cree leukoencephalopathy (CLE) is a severe variant of VWM and caused by a homozygous mutation (R195H) in the EIF2B5 gene. The patient reported in this study developed lethargy, vomiting and seizure 3days after an oral poliovirus vaccination at the age of 4months. She presented with rapid neurological deterioration within a month of onset. Brain MRI showed abnormal white matter intensity. Whole-exome sequencing identified two heterozygous mutations in the EIF2B5 gene: a known mutation, c.584G>A (R195H, which is homozygous in CLE), and a novel mutation, c.1223T>C (I408T, which resides in the "I-patch"). Mutations in the "I-patch" encoded region of eIF2Bε may be related to an early-infantile onset phenotype. This patient exhibits an early-infantile onset and progressive disease course resembling CLE, suggesting a severe functional disruption of eIF2Bε caused by R195H as well as by I408T mutations.

Early magnetic resonance detection of cortical necrosis and acute network injury associated with neonatal and infantile cerebral infarction.

BACKGROUND: Knowledge of MRI findings in pediatric cerebral infarction is limited. OBJECTIVE: To determine whether cortical necrosis and network injury appear in the acute phase in post-stroke children and to identify anatomical location of acute network injury and the ages at which these phenomena are seen. MATERIALS AND METHODS: Images from 12 children (age range: 0-9 years; neonates [<1 month], n=5; infants [1 month-12 months], n=3; others [≥1 year], n=4) with acute middle cerebral artery (MCA) cortical infarction were retrospectively analyzed. Cortical necrosis was defined as hyperintense cortical lesions on T1-weighted imaging that lacked evidence of hemorrhage. Acute network injury was defined as hyperintense lesions on diffusion-weighted imaging that were not in the MCA territory and had fiber connections with the affected cerebral cortex. MRI was performed within the first week after disease onset. RESULTS: Cortical necrosis was only found in three neonates. Acute network injury was seen in the corticospinal tract (CST), thalamus and corpus callosum. Acute network injury along the CST was found in five neonates and one 7-month-old infant. Acute network injury was evident in the thalamus of four neonates and two infants (ages 4 and 7 months) and in the corpus callosum of five neonates and two infants (ages 4 and 7 months). The entire thalamus was involved in three children when infarction of MCA was complete. CONCLUSION: In acute MCA cortical infarction, MRI findings indicating cortical necrosis or acute network injury was frequently found in neonates and early infants. Response to injury in a developing brain may be faster than that in a mature one.

Periventricular nodular heterotopia is related to severity of the hindbrain deformity in Chiari II malformation.

BACKGROUND: Knowledge of the occurrence of malformations of cortical development (MCDs) and its relationship to hindbrain deformity in Chiari II malformation (CIIM) is limited. OBJECTIVE: To assess malformations of cortical development and its relationship to hindbrain deformity regarding Chiari II malformation. MATERIALS AND METHODS: Brain and cervical spinal MRI from 66 children (age range, 1-256 days; mean age, 22.3 days) with Chiari II malformation were retrospectively reviewed. If present, the type, number and location of malformations of cortical development were recorded. Hindbrain deformity was assessed for the level of the medullary kink, the descent of the pons and the shape of the fourth ventricle; these parameters were compared in children with and without malformations of cortical development. RESULTS: Twenty children with malformations of cortical development were identified. Only periventricular nodular heterotopia was noted. The median level of the medullary kink was significantly lower in children with malformations of cortical development compared with children without it (P = 0.037). A low pontomesencephalic junction was identified more frequently in children with malformations of cortical development (65.0%), relative to children without malformations of cortical development (34.8%) (P = 0.045). The fourth ventricular shape was not significantly different in children with or without malformations of cortical development (P = 0.684). CONCLUSION: Periventricular nodular heterotopia was seen in a relatively high proportion of children with Chiari II malformation, suggesting that it may be associated with severe hindbrain deformity.

F-18 FDG uptake patterns and disease activity of collagen vascular diseases-associated arthritis.

PURPOSE: The purpose of the present study was to investigate F-18 FDG uptake patterns, and to see whether joint F-18 FDG uptake reflected disease activity in patients with collagen vascular diseases (CVD)-associated arthritis. MATERIALS AND METHODS: A total of 72 patients with CVD-associated arthritis and 30 control subjects who underwent F-18 FDG PET or PET/CT were retrospectively investigated. PET images of 12 major joints, 7 minor joints, and extra-articular accumulation were assessed. We investigated F-18 FDG uptake patterns and the relationships between the degree of F-18 FDG uptake and distribution, clinical symptoms, and laboratory test results. RESULTS: Remitting seronegative symmetric synovitis with pitting edema syndrome, mixed connective tissue disease, rheumatoid arthritis, and systemic sclerosis tended to show strong and multiple joint F-18 FDG uptake. F-18 FDG uptake was found in bone marrow (86%) and/or spleen (57%) in 7 patients with adult-onset Still disease. The maximum standardized uptake value (SUVmax) correlated with the counts of erythrocyte sedimentation rate, matrix metalloproteinase-3, IgG, and IgA. Joint swelling had a positive association with SUVmax. Multiple logistic regression analyses revealed that factor associated with increased SUVmax of the joint was joint swelling (P = 0.005). CONCLUSIONS: The degree of joint F-18 FDG uptake may contribute to predict active inflammatory process of the joint. In addition, F-18 FDG uptake patterns may have a potential which helps differential diagnosis of CVD-associated arthritis.

PET assessment of disease activity in children with juvenile idiopathic arthritis.

BACKGROUND: The degree of 18-fluorodeoxyglucose (FDG) uptake is previously reported to correlate with physical examination and laboratory tests for evaluating disease activity in patients with rheumatoid arthritis. The clinical validity of (18)F-FDG positron emission tomography (PET) has not been evaluated in juvenile idiopathic arthritis (JIA). OBJECTIVE: To assess the relationship between (18)F-FDG PET uptake and disease activity in children with JIA. MATERIALS AND METHODS: A total of 560 joints in 28 children (mean age, 5.4 years; range, 1-16 years) with JIA who had undergone whole-body (18)F-FDG PET before treatment were retrospectively assessed clinically, biochemically and radiographically. PET images were assessed independently by two readers. We investigated the relationships between the degree of synovial (18)F-FDG uptake and radiographic and clinical symptoms and laboratory findings. RESULTS: Joint tenderness and swelling had a positive association with abnormal (18)F-FDG uptake in the joint [odds ratio (OR) 5.37, 7.12, respectively]. The standardized uptake value (SUV) max correlated with the neutrophil count, plasma C-reactive protein (CRP), erythrocyte sedimentation rate (ESR) and matrix metalloproteinase (MMP) 3. Joint erosion (OR, 6.17), soft-tissue swelling (OR, 3.77), major joints involvement (OR, 3.50), tenderness (OR, 5.22), and CRP concentration in plasma (OR, 1.81) were positively associated with SUVmax. CONCLUSION: The degree of (18)F-FDG uptake may be associated with the severity of synovitis in children with JIA.