Long-term follow-up results of the observation program for neuroblastoma detected at 6-month mass screening.

We conducted an observation program of neuroblastoma in infants, detected by mass screening at 6 months of age; we followed up with them for 15 years. No recurrence was observed after disappearance of tumors, and persistent tumors showed no malignant transformation or metastasis. Histology of the resected tumors showed age-related differentiation.

The role of WT1 gene in neuroblastoma.

BACKGROUND/PURPOSE: The oncogenic properties of the Wilms' tumor gene (WT1) have recently been reported in various malignancies. However, the role of WT1 in pediatric tumors is unclear. To elucidate the role of WT1 in the development of neuroblastoma (NB), we examined the WT1 expression in NB and the effect of WT1 suppression on NB cell proliferation. METHODS: We examined the expression of the WT1 protein in 20 NBs and 5 ganglioneuromas (GNs) by performing immunohistochemical analysis. We determined WT1 messenger RNA expression in 22 NBs, 5 GNs, and 4 NB cell lines by real-time reverse transcription polymerase chain reaction. We studied the effects of WT1 suppression on cell proliferation using small interfering RNA against WT1. RESULTS: Expression of WT1 was higher in mature ganglionic cells, and in the immunohistochemical analysis, the WT1 positivity for GNs was significantly higher than that for NBs (P < .01). The level of WT1 messenger RNA expression did not correlate with histologic grade, clinical stage, and prognosis of the tumor. Knockdown of WT1 gene promoted the proliferation of NB69 cells (P < .01). CONCLUSIONS: The WT1 may govern cell differentiation and suppress cell proliferation in NB. The WT1 does not act as an oncogene, but it may participate in the maturation of NB.

Simultaneous tumors: acute myeloid leukemia infiltrating mediastinal ganglioneuroblastoma.

We report the case of a child presenting with concurrent thoracic ganglioneuroblastoma and acute myeloid leukemia. The peculiarity was the close relation between the two tumors with the latter infiltrating the former one. Histological and genomic studies indicate the different clonal origins of the malignancies in the patient, and we hypothesized that GNB and AML developed independently. Our observation suggests that in patients with more than one tumor, though discovered at different times, one neoplasm is not always secondary.

A composite pheochromocytoma/ganglioneuroblastoma of the adrenal gland.

A 9-year-old female presented with a large abdominal mass. At surgery, the mass was noted to arise from the right adrenal gland. As the mass was manipulated, the patient developed severe hypertension. The final diagnosis was a cystic composite-pheochromocytoma/ganglioneuroblastoma. This compound adrenal tumor is only the fourth case reported in a child. Because composite pheochromocytomas are rare in the pediatric population, the management, optimal surveillance schedule and outcomes have not been characterized.

Ganglioneuroblastoma-associated vitamin D deficiency rickets.

Vitamin D deficiency is the most common cause of rickets mainly in breast-fed dark-skinned, African or Asian children receiving inadequate sunlight exposure. We report a case of a 1.5 year-old Afro-Italian male infant living in South Italy who came to our observation with the typical clinical picture of vitamin D deficiency rickets. The child was exclusively breast-fed for 8 months without vitamin D supplements. Owing to the rarity of vitamin D deficiency rickets in the South of Italy he underwent several investigations, which demonstrated the association with an abdominal ganglioneuroblastoma. To our knowledge, ganglioneuroblastoma has never been reported in association with vitamin D deficiency rickets. Although the association between these 2 rare conditions may be coincidental, the protective action of vitamin D against cancer suggests that vitamin D deficiency might have contributed to the development of ganglioneuroblastoma in our patient.

[The VIP-secreting tumor as a differential diagnosis of protracted diarrhea in pediatrics]. / Der VIP-produzierende Tumor in der Pädiatrie als Differenzialdiagnose der protrahierten Diarrhö

BACKGROUND: Vasoactive intestinal peptide (VIP) can be produced by mature neurogenic tumors. Pathologically elevated VIP plasma levels cause secretory diarrhea with excessive loss of water and electrolytes. Despite the clinical severity diagnosis of a VIP-secreting tumor is often delayed and subsequently its extirpation as the mainstay of therapy. PATIENTS: We report on two patients with ganglioneuroblastoma and secretory diarrhea. We contrast the case of a 13-month-old boy with advanced symptoms of secretory diarrhea, high VIP plasma levels, and late diagnosis to the case of a 14-month-old boy with mild secretory diarrhea and normal VIP plasma levels but positive proof of VIP in tumor tissue. Reviewing the literature we found 57 cases of pediatric VIP-secreting tumors. RESULTS: The clinical situation is characterized by the typical symptoms of secretory diarrhea with hypokalemia and metabolic acidosis. Histopathology predominantly reveals ganglioneuroblastoma or ganglioneuroma. The symptoms mostly stop after complete resection of the tumor whereas lack of resection is associated with elevated mortality rates. CONCLUSIONS: In case of prolonged therapy-resistant secretory diarrhea the existence of a VIP-secreting tumor should be considered. Diagnostic work-up should include the assessment of VIP plasma levels, catecholamines in urine, and appropriate imaging techniques in order to rule out or confirm the possibility of a VIP producing tumor.