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The determination of the two urinary catecholamine metabolites homovanillic acid (HVA) and vanillylmandelic acid (VMA) is of crucial importance for the diagnosis and follow-up of neuroblastoma (NB). The standard practice for their measurement requires the use of 24-hour collections that are time consuming and difficult to obtain. In this article, we directly demonstrate that 24-hour collections and single spot urines are interchangeable for the determination of HVA and VMA expressed as ratio on creatinine concentration. This study can be useful for a faster management of NB at onset.

Collecting duct carcinoma is an uncommon variant of renal cell carcinoma that usually occurs at an earlier age compared to conventional renal cell carcinoma. It is characterised by an aggressive, often fatal, course. Renal cell carcinoma rarely occurs in paediatric patients, and is almost always in association with specific genetic alterations; the most common histotypes are the clear cell and chromophobe cell variants. Collecting duct carcinoma is rare, and only 8 cases have been reported in the literature. The authors describe the clinico-pathological features of a fatal collecting duct carcinoma in an 11-year-old boy.

We studied 15 Sicilian subjects with Hb H disease correlating clinical examinations with hematological and molecular data. Seven different alpha-tha1 mutations were identified: four deletion types (--MED --CAL, -alpha3.7, -alpha4.2) and three nondeletion types (alpha(Ncol)alpha, alpha(Hph)alpha, alphaCSalpha). All the patients had a zero-gene chromosome (--MED or --CAL), while the third alpha gene was deleted (-alpha3.7, -alpha4.2) or inactive (alpha(Ncol)alpha, alpha(Hph)alpha, alphaCSalpha). In patients with the nondeletion genotype the analysis of hematological values revealed lower levels of RBC and Hb A2 and significantly higher levels of Hb H. The clinical variability was remarkable, ranging from totally asymptomatic conditions, casually diagnosed, to severe thalassemia intermedia with marked hemolytic crises, liver and spleen enlargement and the necessity for frequent transfusions. The genotype did not justify the gravity of the phenotype in every case, and the differences in clinical manifestations, also notable, are not easily explainable in subjects who apparently have the same genotype.

We have determined the relative quantities of gamma- and beta-mRNAs and the alpha/beta-mRNA ratios in 37 patients with beta-thalassemia major with specific genotypes, namely 8 with a homozygosity for codon (CD) 39 (C--T), 7 with a homozygosity for IVS-I-110 (G--A), 5 with a homozygosity for IVS-I-6 (T--C), for 15 patients with compound heterozygosities for 2 of these 3 mutations, and for 2 patients with the IVS-I-110 (G--A)/-87 (C--G) mutations. None had an alpha-thalassemia. Twelve patients had thalassemia intermedia and the remainder, transfusion-dependent severe conditions. Differences in phenotype were observed for compound heterozygotes involving the IVS-I-6 (T--C) mutation in combination with either the IVS-I-110 (G--A) or the CD 39 (C--T) mutations: patients with thalassemia intermedia had a lower alpha/beta-mRNA ratio, about half of that of the patients with severe beta-thalassemia major. This might suggest a higher beta-mRNA synthesis in some patients than in others with the same genotype; mutations in promoter, enhancer, and/or locus control region sequences may be responsible for these differences. In vitro chain synthesis data were too incomplete to be helpful in this study. The RT-PCR procedure allowed the separation of abnormal (extended) mRNA from normal beta-RNA in subjects carrying the IVS-I-110 (G--T) mutation. The relative quantities of this beta Th-mRNA (% of beta A + beta Th) were determined by scanning of the appropriate autoradiograms; they averaged 25% for homozygotes and about 4% for heterozygotes, indicating a considerable instability of the message.

B-cell acute lymphoblastic leukemia (B-ALL) presents FAB L3 morphology and surface Ig, CD19, CD20, CD24. This pattern may show some morphological and immunological heterogeneity. Seventeen pediatric cases of B-ALL at onset, treated in twelve AIEOP Centers (Italian Association for Pediatric Hematology and Oncology), are presented.Clinical and hematological features were characterized by low WBC counts at presentation, high M/F ratio, older age and association with extramedullary involvement. The overall survival curve at 78 months is 40%. All patients showed blasts positive for surface Ig (sIg), DR, CD19, and CD24. Ten/17 cases presented the classical features of B-ALL: FAB L3 morphology, sIg+ restricted to light chains, CD20+, cytoplasm mu (c mu)-, CD10-, TdT-. The remainder showed some differences in this pattern, such as non-L3 morphology (3 cases), absence of CD20 (3 cases), CD10+ (4 cases), TdT+ (3 cases), c mu+ (1 case), lack of surface light chains (1 case). This rare ALL subset seems to be characterized by a high phenotype heterogeneity, indicating various degrees of differentiation.

In Italy sickle cell disease is mainly represented by sickle cell anemia (beta s/beta s) and sickle cell thalassemia (beta s/beta oth or beta s/beta+ th). Association of Hb S with other beta variants has been observed in other ethnic groups. Since some of these variants have electrophoretic mobility at alkaline pH similar to Hb S, they are frequently misinterpreted as Hb S in the homozygote state. This paper reports the first case of Hb S/Hb D-Los Angeles observed in Italy. The authors underline the need to perform accurate and specific tests in all patients with sickle cell disease and available relatives, in order to exclude combinations of Hb S with other beta hemoglobin variants.

Aims and background In 1994, French authors hypothesized that positive skeletal mIBG spots in infants with stage 4 neuroblastoma were not prognostically unfavorable unless associated to abnormal standard X-ray or CT findings. In 1999, the European Infant Neuroblastoma Study adopted this definition, indeed reducing the number of patients candidate to chemotherapy. Such an approach requires high quality scans and standardized procedures. The present study critically reviewed and assessed the quality of mIBG scans performed in Italian patients enrolled in the European Infant Neuroblastoma Study. Methods Three independent nuclear medicine specialists reviewed scans of 25 Italian patients enrolled in Trials 99.2, 99.3, and 99.4 of the European Infant Neuroblastoma Study between January 2000 and September 2002. An arbitrary quality score was attributed to each mIBG scintigraphy, ranging from 1 (less than adequate) to 3 (excellent). One radiologist and 2 oncologists reviewed the X-rays and CT scans and correlated the results with clinical assessment. Results The quality of mIBG scans was rated from good to excellent in 15 of 25 cases, poor in 4, and inadequate for diagnostic evaluation in 6. X-rays confirmed the presence of metastases in 3 of 7 cases with mIBG bone uptake. CT scan confirmed skull metastases in 6 of 9 mIBG-positive cases. Discrepancies in scan interpretation, making trial and stage attribution questionable, were found in 2 patients and are discussed. Conclusions The quality of mIBG scans proved to be at least acceptable in most Italian pediatric oncology centers. Efforts should be made to further standardize evaluation of the scans. Additional techniques (99mTc scintigraphy, MRI, SPECT) might be useful to help understand the most complex cases.

Società Scientifiche Italiane Insieme per gli Adolescenti con Malattie Onco-ematologiche (SIAMO) is an Italian nationwide scheme that focuses on adolescent patients with cancer. Some of its activities include promoting dedicated local projects at the various oncology centers all over the country and organizing events to improve awareness regarding cancer in adolescence. It is with these aims in mind that it organized the Winners' Cup, a football tournament between Italian adolescents who had (or had had) pediatric cancers. There were 144 young people 15 to 24 years old who arrived from 16 different treatment centers around the country to take part in the tournament and share their stories. Such an event had never been attempted before, in Italy at least. The Winners' Cup was a great success and an opportunity to focus attention on the particular clinical, psychological, and social needs of cancer patients in this age group.