1/1036. prenatal diagnosis of congenital neuroblastoma. Analysis of 4 cases and review of the literature. OBJECTIVE: Advances in prenatal diagnostics during the last 10 years have enabled the examiner to detect even rare fetal disorders such as fetal tumours. Congenital neuroblastoma is the most frequent solid neoplasm in infancy, with a retroperitoneal cystic or solid mass being a sonographic sign of the conditions. methods: We present 4 cases of neuroblastoma showing suspicious prenatal ultrasound findings. The investigation comprises detection during pregnancy, typical sonographic signs, as well as the postnatal outcome. In addition, a review of the literature is undertaken with a focus on prenatal sonographic signs of congenital neuroblastomas. RESULTS: In all 4 cases, a cystic tumour was detected during the 3rd trimester of pregnancy by means of B-mode sonography. One boy died of disseminated metastases at the age of 26 months. The other 3 survived after surgery and have remained healthy. CONCLUSIONS: The detection of a cystic suprarenal mass is suspicious of a congenital neuroblastoma. The delivery should take place at a perinatal centre. ( info) |
2/1036. Neuroblastoma metastatic to the liver in infants. Four infants are described who presented with rapid enlargement of the liver. This was found to be due to neuroblastoma which had metastasized to the liver; the condition was associated with high levels of urinary vanillylmandelic acid (VMA). In 3 infants the primary tumour was in the adrenal gland and in one it was not identified. One infant died after laparotomy and 2 infants survive disease free with normal VMA levels, one after adrenalectomy and hepatic irradiation and one after a short course of chemotherapy. The fourth patient responded initially to hepatic irradiation and chemotherapy, but relapsed 2 years later with recurrent disease; at the same time the VMA level which had been normal, again rose. The importance of screening for an abnormal VMA level in any infant with a rapidly enlarging liver in order to obtain an early diagnosis is stressed. Careful follow-up, with serial VMA estimations, is essential to detect recurrent disease. The prognosis for some infants with this distribution of neuroblastoma which has metastasized to the liver, but not to the bones or oribt, is good. ( info) |
3/1036. Neuroblastoma in two siblings supports the role of 1p36 deletion in tumor development. Familial neuroblastoma occurs rarely. We studied a family with three children; one of them has a disseminated (stage 4) and another has a localized (stage 2) neuroblastoma. We observed subtelomeric locus D1Z2 (1p36) deletion in both tumors by using double-color fluorescence in situ hybridization. The MYNC gene was found in single copy in both tumors. loss of heterozygosity (LOH) and restriction fragment length polymorphism analyses were performed by using dna from frozen tumor cells and from microdissected tumor areas excised from paraffin-embedded sections. We detected somatic LOH at locus D1S468 (1p36) in a tumor-cell population with a trisomy 1 of the stage-2 patient. Neuroblastoma cells of the stage-4 patient were diploid and showed allelic loss at the following loci: D1S172, D1S80, D1S94, D1S243, D1S468, D1S214, D1S241, and D1S164. Haplotype study showed that the siblings inherited the same paternal 1p36-->pter chromosome region by homologous recombination and that, in the two tumors, arm 1p of different chromosomes of maternal origin was damaged. Our results suggest that the siblings inherited the predisposition to neuroblastoma associated with paternal 1p36 region and that tumors developed as a consequence of somatic loss of the maternal 1p36 allele. ( info) |
4/1036. skin conductance responses in paediatric Harlequin syndrome. We report a novel and simple application of skin conductance response (SCR) testing for diagnosis of a new-onset iatrogenic Harlequin syndrome in an infant. Isolated ipsilateral facial pallor, complicated by thermally induced systemic sympathetic vasodilatation, and preferential lateral decubitus positioning, mimics harlequin colour change. Correct diagnosis as Harlequin syndrome with facial sympathetic interruption was demonstrated by diminution of SCR. ( info) |
5/1036. Ukrain treatment in a patient with stage IV neuroblastoma. A case report. A 22-month-old boy with stage IV neuroblastoma underwent laparotomy with tumor removal and nephrectomy, followed by treatment with Ukrain. Two months later, a remaining abdominal tumor, a retroperitoneal tumor (approximately 2 x 1 cm), and lung, brain, pelvis, kidney, and distal femur metastases were found. growth of the neuroblastoma around the spinal cord and growth into the spinal canal was also found. Ukrain was administered in 3-week therapy series with 3-week pauses between each series. Some tumors disappeared, others were smaller, and growth stopped in the remaining tumors. Various metastases were no longer detectable. ( info) |
6/1036. Schwannoma with features mimicking neuroblastoma: report of two cases with immunohistochemical and ultrastructural findings. OBJECTIVE: A study of two cases of a rare variant of benign schwannoma showing areas mimicking neuroblastoma/peripheral primitive neuroectodermal tumour (PNET). methods: Sections of formalin fixed, paraffin embedded specimens were studied by tinctorial stains and immunohistochemistry, and the tissue retrieved from formalin was examined by electronmicroscopy in one case. RESULTS: The tumours were small and subcutaneous. Both showed features of benign schwannoma; one had a multinodular plexiform pattern. In addition, rosette-like structures consisting of collagenous cores surrounded by small round cells or slightly larger epithelioid cells were present. Tumour cells were positive for S100 protein, Leu7, and in one case GFAP, but were negative for neurofilament protein, synaptophysin, and MIC2. Type IV collagen surrounded individual cells. Electronmicroscopy in case 2 confirmed schwannian features (lamina, processes) and failed to show features of neuroblastoma (neuroendocrine granules). CONCLUSIONS: Benign schwannomas may contain rosette-like structures mimicking neuroblastoma/PNET. The techniques used confirmed schwannian differentiation only and eliminated neuroblastoma/PNET. These uncommon variants should be recognised by practising histopathologists to avoid erroneous diagnoses and inappropriate treatment. ( info) |
7/1036. Two cases of neuroblastoma presenting to the emergency department. Neuroblastoma is the second most common malignant solid tumor in the pediatric population. Recent advances in treatment options and identification of prognostic subsets have made early detection important. Early classification into a favorable stage and subset may carry a 10-year survival of about 90% (1). With newer treatment regimens, the probability of long-term survival in patients with metastatic disease has also increased about fourfold since 1979 (2). Emergency physicians can contribute to improved morbidity and mortality with appropriate evaluation and disposition of the patient presenting with neuroblastoma. Two patients, a 6-month-old and a 2-week-old, presented to the Emergency Department with weakness. Both had a presumptive diagnosis of neuroblastoma made by the emergency physician. A brief discussion of the incidence, presentation, and diagnosis of neuroblastoma follows. ( info) |
8/1036. Spinal cord vascular injuries following surgery of advanced thoracic neuroblastoma: an unusual catastrophic complication. BACKGROUND: Spinal cord injury is a possible complication associated with removal of thoracic dumbbell neuroblastomas. Our experience with two children whose postsurgical course was complicated by midthoracic spinal cord ischemia is reported there. Permanent paraplegia resulted in both. PROCEDURE AND RESULTS: Preoperative awareness of the origin and distribution of the Adamkiewicz artery (arteria radiculomedullaris magna, ARMM) and of the possible collateral pathways for spinal cord blood supply may be helpful in the planning of operations that involve dissection in the midthoracic posterior mediastinum. Otherwise, a flaccid paraplegia may result. CONCLUSIONS: The syndrome is presumed to be triggered by a spasm, an embolism, or a iatrogenic interruption of the ARMM. ( info) |
| BACKGROUND: Since the introduction of mass screening of infants for neuroblastoma, the incidence of neuroblastoma has increased in japan. The reason for this increased incidence is the possible inclusion of many neuroblastomas that would have regressed spontaneously and would never have been detected clinically. An extremely rare tumor at the dome of the urinary bladder in a 7-month-old infant was detected by the mass screening. methods: A case of neuroblastoma of the urinary bladder is reported with a review of the literature. The data in the japan Children's Cancer Registry are also reviewed to analyze the incidence and the site of origin of neuroblastoma for evaluation of mass screening. RESULTS: A 7-month-old female infant was referred because of a positive urine vanillylmandelic acid screening test. ultrasonography showed a solid mass attached to the urinary bladder. At laparotomy a 35 x 30 x 25-mm egg-shaped tumor was found at the dome of the bladder, and a partial cystectomy was performed. During the operation no changes in blood pressure occurred when the tumor was manipulated. Histologic diagnosis was rosette-fibrillary neuroblastoma originating in the bladder wall, with a favorable Shimada histopathologic classification. N-myc was not amplified, which predicted a favorable prognosis, and no postoperative chemotherapy was given. The patient was free of symptoms and tumor after a follow-up period of 16 months. literature review revealed that this was the second case of neuroblastoma of the urinary bladder ever reported in the world, although several cases of pheochromocytoma originating in the bladder wall had been reported. Both neuroblastoma and pheochromocytoma derive from the neural crest. The sympathogonia from the neural crest, a common stem cell, differentiates into a ganglion cell or into a secretory cell known as a chromaffin cell, able to manufacture catecholamines. The first case in the world that was reported as neuroblastoma of the urinary bladder was in a 4-month-old infant who was noted to have a 4-cm lower abdominal mass on routine physical examination. A ganglioneuroblastoma of the dome of the bladder was excised and the patient was doing well. On reviewing the japan Children's Cancer Registry, the incidence of neuroblastomas in infants has increased as well as the number of stage 1, 2, and 4s (stage 4 special) neuroblastomas since the introduction of mass screening. However, there has been no significant change in the number of stage 3 or 4 diseases diagnosed in older children. According to the japan Children's Cancer Registry, pelvic origin neuroblastoma, which has been noted to have spontaneous regression, was more frequent in the primary tumors detected by mass screening when compared with those presenting clinically. During preparation of this manuscript another case of bladder dome neuroblastoma was detected by urinary vanillylmandelic acid screening of 6-month-old infants for neuroblastoma in japan. CONCLUSION: These extremely rare cases of neuroblastoma of the urinary bladder involved children younger than 1 year of age and were incidentally detected by routine physical examination or mass screening. This raises the question of whether these tumors might have regressed spontaneously had they gone undetected and untreated. ( info) |
10/1036. Adrenal neuroblastoma in an adult with tumor thrombus in the inferior vena cava. We describe the appearance of an adrenal neuroblastoma associated with tumor thrombus occurring in an adult patient. The tumor measured 14 x 12 x 12 cm, showed heterogeneous signal intensity on both T1-weighted and T2-weighted images, and displayed peripheral nodular enhancement on early post-gadolinium images. Tumor thrombus was identified within the inferior vena cava, which extended into the right atrium. ( info) |