F. Massolo

Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)

Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia. We performed mutational screening of coding and promoter regions of the c‐mpl gene, encoding thrombopoietin (TPO) receptor, by sequence analysis in four unrelated patients affected by TAR syndrome. Our results indicate that c‐mpl gene mutations are not a common cause of thrombocytopenia in TAR syndrome.

Late deaths and second primary malignancies among long-term survivors of childhood cancer: An Italian multicentre study

A multicentre registry of children who had been successfully removed from therapy for some common childhood cancers (Hodgkins disease, non-Hodgkins lymphoma, neuroblastoma, nephroblastoma, acute lymphatic leukaemia and other leukaemias) was established in Italy in 1981. The present study describes mortality and occurrence of second primary malignancies (SPMs) among 1467 children who were alive when the registry was established. Follow-up ended on December 31, 1983 for mortality and 1 year later for the occurrence of SPMs. Sixty-seven deaths were recorded, 11 of which were due to causes other than progression of the original disease. Eleven incident SPMs were identified (i.e. 3 acute myeloid leukaemias, 3 thyroid carcinomas, 1 bilateral breast carcinoma, 1 liver malignant mesenchymoma, 1 astrocytoma, 1 chondrosarcoma and 1 osteosarcoma) corresponding to an incidence rate of 2.1/1000 patient-years at risk. Anecdotal reports were collected regarding 2 further SPMs (a thyroid carcinoma and a myeloid leukaemia) as well as several benign tumours, including 2 mammary fibroadenomas.

Treatment of Poor-Risk Neuroblastoma with Intensive Chemotherapy and Recombinant Human Granulocyte-Macrophage Colony-Stimulating Factor

Advanced neuroblastoma is one of the most lethal pediatric malignancies. Several antitumor compounds are able to induce tumor regression, and a dose-response relationship has been demonstrated for some of them. A significant improvement in both response rate and duration of survival has thus been obtained by treatment intensification [1–4]. In the Italian experience, the median survival time of children treated with aggressive chemotherapy has been doubled compared with historical controls [5]. However, the higher initial response rate and the prolonged remission time has resulted in only a marginal improvement in cure rate, presently not exceeding 25% [6, 7]. Hematopoietic growth factors (colony-stimulating factors, CSFs), by mitigating the myelotoxic effect of chemotherapy, may reduce the treatment-related morbidity and thus permit the delivery of higher dosages and the shortening of intervals between chemotherapy courses [8, 9].

GERM CELL TUMOURS IN CHILDREN- A Report of 84 Cases

Publisher Summary This chapter discusses the results of a study examining germ cell tumors (GCTs) in children. In January 1991, a protocol for the diagnosis and treatment of GCTs in children was activated in 15 Italian pediatric centers. The diagnosis was made by the histological examination of a specimen obtained by surgical resection or biopsy and serum tumor marker positivity. Treatment was based on tumor site, histology, and stage. In the study, eighty-four patients were entered (40 males, 44 females), age range 0 to 14 years (median 5.1 years). The histological features were the following: (1) mature teratoma, 45 patients, (2) immature teratoma, 12 patients (eight grade II, four grade III), (3) MNSGCT 24 patients, including 2 cases of malignant relapse of one mature and one immature teratoma, and (4) seminomatous tumor, 5 patients. One patient with a SC tumor had a local malignant recurrence six months after surgical resection: the patient was disease-free 14 months after a second resection and 2 courses of chemotherapy (JE/IVA).

The outcome of Wilms' tumor in infants. Italy 1970-79.

Thirty-four infants under 1 year of age with Wilms’ tumor were diagnosed and treated in 14 Italian pediatric oncology units during 1970-79. The 3-year survival rates decreased with higher group unilateral tumors: 95% in group I Wilms’ tumor, 75% in group II and 20% in group III. The survival rates for children with group I and II Wilms’ tumor were similar for those who were treated with surgery and chemotherapy and those who also received postoperative radiotherapy. During 1975-79 fewer patients with group I Wilms’ tumor received radiotherapy (1 of 11) than during 1970-74 (4 of 6, p < 0.05). All these children are alive at this writing.