Publications (34)110.85 Total impact
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Article: MPL W515L Mutation in Pediatric Essential Thrombocythemia.
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ABSTRACT: Essential thrombocythemia (ET) is extremely rare in the pediatric population. In most patients no molecular abnormality can be found, with about 40% of pediatric patients harboring a JAK2 V617F mutation. Another recurrent mutation, involving a W to L or K transversion at MPL codon 515, has been reported in about 3-8% of adult ET patients. Herein we describe this mutation in a pediatric patient. Pediatr Blood Cancer. © 2013 Wiley Periodicals, Inc.Pediatric Blood & Cancer 02/2013; · 1.89 Impact Factor -
Article: FIP1L1-PDGFRα-Positive Hypereosinophilic Syndrome in Childhood: A Case Report and Review of Literature.
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ABSTRACT: Hypereosinophilic syndromes in children are rare disorders traditionally characterized by an eosinophil count exceeding 1,500/mm on at least 2 occasions or evidence of tissue eosinophilia associated with symptoms and marked blood eosinophilia, lacking any secondary cause (such as infections, allergic disease, chemical-induced eosinophilia, hypoadrenalism, cancer). Until now there have only been 3 reported cases of pediatric FIP1L1-PDGFRα-positive hypereosinophilic syndromes. We describe a fourth patient, a white 14-year-old boy, the third treated with imatinib.Journal of Pediatric Hematology/Oncology 01/2013; · 1.16 Impact Factor -
Article: Synchronous bilateral Wilms tumor: A report from the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP).
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ABSTRACT: BACKGROUND: The optimal management of bilateral Wilms tumor (BWT) is challenging, and their survival is lower than for unilateral tumors. This report discusses a large series of BWTs treated in Italy in the last 2 decades. METHODS: This analysis concerns patients with synchronous BWT registered at Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) centers between 1990 and 2011; details on their treatment and outcome are presented and discussed. RESULTS: Ninety BWTs were registered in the AIEOP Wilms tumor database. Preoperative chemotherapy was given for a median 12 weeks before definitive tumor resection was attempted. Forty-eight percent of the patients had preservation of bilateral renal parenchyma. The proportion of bilateral nephron-sparing surgeries was not higher in the 37 patients initially given doxorubicin/vincristine/actinomycin D (32%) than in the 43 children receiving vincristine/actinomycin D alone (58%). The 4-year disease-free survival rate was 66.5% ± 5% and overall survival was 80% ± 5% for the cohort as a whole. The 4-year disease-free survival (overall survival) for 18 children with diffuse anaplasia or postchemotherapy blastemal-type tumors was 51% ± 13% (62% ± 13%), as opposed to 72% ± 3% (88% ± 4%) for 68 children with a favorable histology (log-rank P = .04 [P = .007]). CONCLUSIONS: These results provide further evidence that the optimal duration and choice of drugs for preoperative chemotherapy remain an open question. Outcome remained significantly worse for BWT than for unilateral Wilms tumor. To enable the conservative treatment of as many affected kidneys as possible, only centers with experience in BWT should manage such cases. Cancer 2013;. © 2013 American Cancer Society.Cancer 01/2013; · 4.77 Impact Factor -
Article: Loss of Heterozygosity Analysis at Different Chromosome Regions in Wilms Tumor Confirms 1p Allelic Loss as a Marker of Worse Prognosis: A Study from the Italian Association of Pediatric Hematology and Oncology.
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ABSTRACT: PURPOSE: The specific aims of the AIEOP-TW-2003 protocol included prospectively investigating a possible association of tumor loss of heterozygosity with outcomes in children treated for Wilms tumor. MATERIALS AND METHODS: We analyzed 125 unilateral favorable histology Wilms tumors registered between 2003 and 2008 in the Italian cooperative protocol for microsatellite markers mapped to chromosomes 1p, 7p, 11q, 16q and 22q. RESULTS: The 3-year disease-free survival and overall survival probabilities were 0.87 (95% CI 0.81-0.93) and 0.98 (95% CI 0.96-1.0), respectively. Loss of heterozygosity at 1p was significantly associated with a worse disease-free survival (probability 0.67 for patients with and 0.92 for those without 1p loss of heterozygosity, p = 0.0009), as confirmed also by multivariate analysis adjusting for tumor stage and patient age at diagnosis. There was no difference in disease-free survival probability among children with loss of heterozygosity in the other chromosomal regions tested. The worse outlook for children older than 2 years at diagnosis did not seem to be influenced by the loss of heterozygosity patterns considered. CONCLUSIONS: Chromosome 1p loss of heterozygosity seems to be a risk factor for nonanaplastic Wilms tumor, possibly regardless of other clinical factors. Our findings were uninformative regarding loss of heterozygosity in the other chromosomal regions tested.The Journal of urology 11/2012; · 4.02 Impact Factor -
Article: Vocal cord palsy after vincristine treatment in a child and the inefficacy of glutamic acid in the prevention of relapse: a case report.
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ABSTRACT: Vincristine is an antineoplastic drug with a well known efficacy for the treatment of acute lymphoblastic leukemia and many solid tumors. No more than 20 pediatric patients with vincristine-induced vocal cord palsy have been reported, and to the best of our knowledge this is the first case where glutamic acid was administered with the aim of preventing a relapse of laryngeal dysfunction. The larynx paralysis presented with hoarseness and stridor in a Caucasian 18-month-old girl and spontaneously resolved in about a month. In order to administer a subsequent full dose of vincristine, our patient received oral glutamic acid whose efficacy against vincristine neurological side effects has been previously reported. Since in our patient the amino acid proved to be ineffective in the prevention of laryngeal paralysis relapse, we suggest that a dose reduction of vincristine should be preferred by oncologists as an initial approach after a case of drug-induced vocal cord palsy.Journal of Medical Case Reports 05/2012; 6(1):128. -
Article: The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation.
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ABSTRACT: Diamond Blackfan anemia typically presents in infants and is often associated with many kinds of malformations. Severity of anemia often needs transfusional support in the first months of life. We describe here a patient with Diamond Blackfan anemia related to a RPL5 mutation. The patient had no physical abnormalities and experienced a very late onset of transfusion dependency.Pediatric reports 04/2012; 4(2):e25. -
Article: Genomic profiling by whole-genome single nucleotide polymorphism arrays in Wilms tumor and association with relapse.
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ABSTRACT: Despite the excellent survival rate of Wilms tumor (WT) patients, only approximately one-half of children who suffer tumor recurrence reach second durable remission. This underlines the need for novel markers to optimize initial treatment. We investigated 77 tumors using Illumina 370CNV-QUAD genotyping BeadChip arrays and compared their genomic profiles to detect copy number (CN) abnormalities and allelic ratio anomalies associated with the following clinicopathological variables: relapse (yes vs. no), age at diagnosis (≤ 24 months vs. >24 months), and disease stage (low stage, I and II, vs. high stage, III and IV). We found that CN gains at chromosome region 1q21.1-q31.3 were significantly associated with relapse. Additional genetic events, including allelic imbalances at chromosome arms 1p, 1q, 3p, 3q, and 14q were also found to occur at higher frequency in relapsing tumors. Interestingly, allelic imbalances at 1p and 14q also showed a borderline association with higher tumor stages. No genetic events were found to be associated with age at diagnosis. This is the first genome wide analysis with single nucleotide polymorphism (SNP) arrays specifically investigating the role of genetic anomalies in predicting WT relapse on cases prospectively enrolled in the same clinical trial. Our study, besides confirming the role of 1q gains, identified a number of additional candidate genetic markers, warranting further molecular investigations.Genes Chromosomes and Cancer 03/2012; 51(7):644-53. · 3.31 Impact Factor -
Article: Prognostic value of ferritin, neuron-specific enolase, lactate dehydrogenase, and urinary and plasmatic catecholamine metabolites in children with neuroblastoma.
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ABSTRACT: Different plasma and urinary parameters have been tested as valuable prognostic markers for children with neuroblastoma (NB), but conclusive results from multivariate analyses are still lacking. Samples collected at diagnosis from 505 patients diagnosed in Italy between June 1994 and November 2010 were analyzed at the Italian reference laboratory according to standard methodologies. Patient clinical data were retrieved from the Italian NB Registry. For statistical analysis, patients were grouped according to stage, age, MYCN status, and outcome. Cumulative survival was calculated by the Kaplan-Meier procedure using the first quartile of the marker distribution as a cut-off value to stratify the patients. Multivariate analysis was performed by the Cox regression model by considering only the significant variables. When the entire cohort of patients was considered, none of the different parameters had an independent prognostic value. However, in patients with localized disease without MYCN amplification the significant positive associations between urinary and plasmatic vanillylmandelic acid (VMA)/homovanillic acid (HVA) ratio and a better prognosis remained significant (P < 0.05 and P < 0.01, respectively), as well as, the positive association between high lactate dehydrogenase (LDH) values and a worse prognosis (P < 0.001). Moreover, in stage 4 patients without MYCN amplification, neuron-specific enolase levels above 200 ng/mL and LDH levels above 2500 IU/mL maintained their significant association with a worse outcome (P = 0.01 and P = 0.0001, respectively). In conclusion, LDH had an independent prognostic value in patients of all stages without MYCN amplification. Moreover, the urinary and plasmatic VMA/HVA ratio was an independent predictor of prognosis in patients with localized disease without MYCN amplification. Since LDH and catecholamine metabolites are measured in all patients at diagnosis, these findings may be helpful for an easy, cost-effective, patient risk stratification.OncoTargets and Therapy 01/2012; 5:417-23. · 1.26 Impact Factor -
Article: A prospective protocol for nasopharyngeal carcinoma in children and adolescents: the Italian Rare Tumors in Pediatric Age (TREP) project.
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ABSTRACT: Nasopharyngeal carcinoma (NPC) is very rare in childhood. It differs from its adult counterpart in the prevalence of the nonkeratinizing, undifferentiated subtype and by an advanced clinical stage at onset and better chances of survival. The risk of long-term treatment-related toxicity also may be a more important issue in younger individuals. A prospective chemoradiotherapy protocol for pediatric NPC was started in Italy in 2000 within the framework of the Rare Tumors in Pediatric Age (TREP) project. Three courses of cisplatin/5-fluorouracil induction chemotherapy were followed by radiotherapy (doses up to 65 grays) with concomitant cisplatin. Forty-six patients (ages 9-17 years) were considered eligible for the study over a 10-year period. The ratio of observed to expected cases based on epidemiological data was approximately 1 for both children and adolescents. All but 1 patient had lymph node involvement, and 5 patients had distant metastases. The rate of response to primary chemotherapy was 90%. The 5-year overall and progression-free survival rates were 80.9% and 79.3%, respectively (median follow-up, 62 months). The only statistically significant prognostic variable was the presence or absence of distant metastases. A 65% incidence of late sequelae was reported. This study demonstrates the feasibility and efficacy of a prospective protocol even for such rare tumors as pediatric NPC. The use of lower radiotherapy doses than those used in adults did not affect locoregional failure rates. Long-term follow-up will be needed to obtain more information on both survival and treatment sequelae. The next objective will be to establish broader, international prospective cooperation schemes.Cancer 09/2011; 118(10):2718-25. · 4.77 Impact Factor -
Article: Effectiveness of cyclosporine and mycophenolate mofetil in a child with refractory evans syndrome.
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ABSTRACT: Evans Syndrome is a rare autoimmune disease consisting of hemolytic anemia, thrombocytopenia and/or neutropenia. It may be associated with other autoimmune or lymphoproliferative diseases. Its course can be extremely serious and, rarely, even life-threatening; thus it represents a excellent treatment challenge for the pediatric hematologist. First line treatment consists of steroids and/or immunoglobulin; further therapy with rituximab, vincristine, cyclophosphamide and other immunosuppressive drugs can be considered in unresponsive patients. We describe a baby with refractory Evans Syndrome that was cured by prolonged administration of mycophenolate mofetil and remained disease-free for 4 years after the discontinuation of treatment.Pediatric reports 06/2011; 3(2):e15. -
Article: Simultaneous diagnosis of acute lymphoblastic leukemia and peripheral neuroblastic tumor in a child.
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ABSTRACT: We report the case of a 3-year-old girl with a mediastinal mass, severe anemia, leukocytosis and neutropenia, in whom, after initial suspicion of metastatic neuroblastoma, a final diagnosis of concurrent ganglioneuroblastoma and acute lymphoblastic leukemia was made. The mediastinal tumor was surgically excised and the child subsequently underwent chemotherapy for acute lymphoblastic leukemia. The patient remains in complete remission from both diseases 4 years after the diagnosis and 24 months after completion of all treatment. The simultaneous occurrence of 2 different neoplasms in a child is very infrequent, and no comparable cases are reported in the literature.Journal of Pediatric Hematology/Oncology 06/2011; 34(1):72-5. · 1.16 Impact Factor -
Article: Hepatopathy-thrombocytopenia syndrome (HTS) after actinomycin-D therapy: report of three cases and review of the literature.
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ABSTRACT: Hepatopathy-thrombocytopenia syndrome (HTS) is a severe complication very similar to vein occlusive disease (VOD), also known as hepatic sinusoidal obstructive syndrome (SOS), characterized by fever, hepatopathy (hepatomegaly with abnormal liver function tests), ascites, weight gain, jaundice, and thrombocytopenia (platelet count less than 25 × 10(3)/μL). It has been generally observed in patients with Wilms tumor, and is commonly associated to administration of actinomycin D. We report three children with Wilms tumor, with severe HTS/SOS, but had a different outcome, in spite of vigorous supportive therapy.Pediatric Hematology and Oncology 01/2011; 28(3):237-43. · 0.89 Impact Factor -
Article: Castleman's disease in childhood: report of three cases and review of the literature.
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ABSTRACT: Castleman's disease (CD) is a rare, localized or generalized, lymphoproliferative disorder with a frequent mediastinal location, but possible in any lymph node or extra nodal site. It usually appears in young adults whilst it rarely occurs in childhood. There are only about 100 pediatric cases published, five of them in Italy. We report 3 cases of localized Castleman's disease, investigated in our Department in a 3 years period and reviewed the literature.Italian Journal of Pediatrics 01/2011; 37:50. -
Article: Breast metastases in children and adolescents with rhabdomyosarcoma: Experience of the Italian Soft Tissue Sarcoma Committee.
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ABSTRACT: Breast metastasis from rhabdomyosarcoma (RMS) is an uncommon event but may be problematic in treatment decision-making. Aim of the study was to evaluate clinical characteristics, treatment, and subsequent outcome, of patients with RMS metastasis in the breast, enrolled in four consecutive Associazione Italiana di Ematologia ed Oncologia Pediatrica (AIEOP) Soft Tissue Sarcoma Committee protocols during the last 20 years, in order to obtain information to establish a more adequate diagnostic and therapeutic approach. Data were derived from the AIEOP STSC database and reviewed for the purpose of this study. From 1988 to 2008, among 189 patients with metastatic RMS, we identified 7 (3.7%) patients with RMS with breast involvement at diagnosis. All patients were females, aged 13-17 years with alveolar histology and multiple metastasis sites (2-5). The primary tumor was located in the extremities in 3/7 patients. In spite of intensive treatment no patient survived. The cause of treatment failure was distant relapse in six patients, including two on the mammary region. Treatment data analysis revealed that local measures to control breast lesions were used in only two patients. Our data suggest that investigations of the mammary region should be part of the usual diagnostic workup in adolescent girls with alveolar RMS, especially if the primary tumor arises in the extremities. New and more effective strategies are needed to improve the outcome of these patients including aggressive local measures to control breast disease.Pediatric Blood & Cancer 12/2010; 55(7):1306-9. · 1.89 Impact Factor -
Article: Heterogeneity of disease classified as stage III in Wilms tumor: a report from the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP).
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ABSTRACT: We analyzed whether the prognosis can differ among Wilms tumors (WT) labeled as Stage III according to currently adopted classification systems. Patients with nonanaplastic Stage III WT consecutively registered in two Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) trials (CNR-92, TW-2003) were the subjects in the present analysis. The steady mainstay of therapy was primary nephrectomy, followed by three-drug chemotherapy with vincristine, dactinomycin, doxorubicin, and abdominal radiotherapy (RT). Ninety-nine WT patients met the criteria for classification as Stage III according to a revised version of the National Wilms Tumor Study-3 staging system (51 patients in CNR-92, 48 patients in TW-2003). Regional lymph nodes (LN) were not biopsied in 16 patients. After a median follow-up of 66 months, the 4-year disease-free survival (DFS) and overall survival (OS) rates were 85% ± 4% and 92% ± 3%, respectively, for the whole group. For 38 children with positive LN, the 4-year DFS rate was 73% ± 7%, as opposed to 98% ± 2% for the 45 children with Stage III WT according to the other criteria but with negative biopsied LN (p = 0.001). The subgroup with the worst prognosis consisted of children more than 2 years old with positive LN (DFS 67% ± 8%). A delay between surgery and RT > 30 days had an adverse impact on the abdominal tumor relapse rate. This study provides further evidence that Stage III tumors with LN metastases might be distinguished from WTs meeting the other criteria for classification as Stage III. The worse outcome of the former may warrant a prospective study on the effects of intensified therapy. A subclassification of Stage III tumors is discussed.International journal of radiation oncology, biology, physics 11/2010; 82(1):348-54. · 4.59 Impact Factor -
Article: Hodgkin lymphoma and nephrotic syndrome in childhood.
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ABSTRACT: An association between nephrotic syndrome and extrarenal neoplasia was described for the first time in 1922. Since then a large number of cases have been published, few of them describing the link between Hodgkin disease (HD) and nephrotic syndrome (NS). It shows that the incidence of nephrotic syndrome in Hodgkin lymphoma is less than 1%. Till date, to the best of author's knowledge, there are about 50 pediatric cases published, no one among Italian children. In the present paper, the authors report 2 cases observed in their department in the 7 yrs period.The Indian Journal of Pediatrics 10/2010; 77(10):1147-9. · 0.52 Impact Factor -
Article: Severe polyuria and polydipsia in hyponatremic-hypertensive syndrome associated with Wilms tumor.
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ABSTRACT: The combination of hyponatremia and renovascular hypertension is known as hyponatremic-hypertensive syndrome (HHS) and so rarely described in children but associated with various kinds of occlusions of the renal artery. We describe two children who presented HHS with severe hypokalemia, polyuria, and polydipsia associated with Wilms tumor, which required treatment with an angiotensin-converting enzyme inhibitor before nephrectomy. All HHS signs and symptoms resolved only following surgical resection of the tumor, allowing chemotherapy to be given.Pediatric Blood & Cancer 09/2010; 55(3):566-9. · 1.89 Impact Factor -
Article: Teratoma with a malignant somatic component in pediatric patients: the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) experience.
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ABSTRACT: Teratoma with a malignant somatic component (TMSC) is rare but described in adults, whereas information on pediatric presentation is sparse. The Associazione Italiana Ematologia Oncologia Pediatrica identified 14 cases of TMSC. Clinical files and pathology specimens were reviewed. The series (9 female, 5 male) showed the following disease: testis (2), sacrococcygeal (3), ovary (3), retroperitoneum (3), mediastinum (2), and foot soft tissue (1). Distribution of the somatic component was: carcinoma (4), pancreatic neuroendocrine tumor (1), neuroblastoma (3), rhabdomyosarcoma (3), rhabdomyosarcoma plus liposarcoma, chondrosarcoma, neurogenic sarcoma (1), chondrosarcoma plus neuroectodermal sarcoma (1), malignant peripheral nerve sheath tumor (1). Three patients were in stage I, four in stage II, three in stage III, and four in stage IV. All but one patient underwent surgery and only females showed carcinoma components. Nine patients relapsed or progressed and eight died. Six patients are alive and disease-free. Two patients underwent complete resection and four were treated based on transformed histologies. Relapse-free and overall survival rates were 35.7% and 42.8%, respectively (median follow-up, 31 months). Prognosis for germ cell tumors (GCTs) containing MSC is worse than that for GCTs. The pediatric disease appears to be more heterogeneous in tumor site distribution and MSC histology than in adults. Our series suggests no effects of age, histology, or gender on outcome. Surgery has an essential role in localized disease, with complete resection highly desirable. Chemotherapy optimized for histology should include reagents directed to the somatic malignancy, if chemosensitive. Malignant GCT warrants GCT-directed chemotherapy.Pediatric Blood & Cancer 04/2010; 54(4):532-7. · 1.89 Impact Factor -
Article: Improved survival of children with neuroblastoma between 1979 and 2005: a report of the Italian Neuroblastoma Registry.
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ABSTRACT: To describe treatment, clinical course, and survival of a cohort of Italian patients with neuroblastoma. The study includes data from 2,216 children (age 0 to 14 years) diagnosed between 1979 and 2005. Overall survival (OS) was analyzed by clinical and biologic features at presentation and periods of diagnosis: 1979 to 1984, 1985 to 1991, 1992 to 1998, and 1999 to 2005. The relative risk of second malignant neoplasm (SMN) was assessed by the standardized incidence ratio (SIR), with the Italian population selected as referent. Yearly patient accrual increased over time from 58 to 102. Patients age 0 to 17 months represented 45.6% of the total population, and their incidence increased over time from 36.5% to 48.5%. The incidence of stage 1 patients increased over time from 5.8% to 23.2%. A total of 898 patients (40.5%) developed disease progression or relapse, 19 patients developed SMN, and two patients developed myelodysplasia. The cumulative risk of SMN at 20 years was 7.1%, for an SIR of 8.4 (95% CI, 5.1 to 13.2). A total of 858 patients (39%) died (779 of disease, 71 of toxicity, six of SMN, and two of tumor-unrelated surgical complications). Ten-year OS was 55.3% (95% CI, 53.0% to 57.6%) and increased over time from 34.9% to 65.0%; it was significantly better for females and patients age 0 to 17 months at diagnosis, with extra-abdominal primary, and stage 1 and 2 disease. OS improved significantly over time in stage 1 and 3 patients. In patients with stage 4 disease, the improvement occurred between the first and second time cohorts (6.7% v 23.5%), but not afterward. The outcome of children with neuroblastoma has progressively improved. Long-term survivors bear a significant risk of SMN.Journal of Clinical Oncology 03/2010; 28(14):2331-8. · 18.37 Impact Factor -
Article: Focal nodular hyperplasia of the liver: an unusual association with diabetes mellitus in a child and review of literature.
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ABSTRACT: Hepatic hemangioma, adenoma and focal nodular hyperplasia are the most frequent benign lesions of the liver, but they are all infrequent among pediatric population. The reports of focal nodular hyperplasia in children have recently increased in number, with many cases associated to drug intake, particularly to chemotherapy. We here describe, to our knowledge, the first case of focal nodular hyperplasia in association with diabetes mellitus in childhood.Italian Journal of Pediatrics 01/2010; 36:41.
Top co-authors
Top Journals
Institutions
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2013
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Università degli Studi di Torino
Torino, Piedmont, Italy
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2009–2012
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A.R.N.A.S. Ospedale Civico Palermo
Palermo, Sicily, Italy
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2010
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Università degli studi di Palermo
Palermo, Sicily, Italy
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2005–2009
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University-Hospital of Padova
Padova, Veneto, Italy
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2007
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Fondazione IRCCS Istituto Nazionale dei Tumori di Milano
- s.c. Pediatria Oncologica
Milano, Lombardy, Italy
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2006
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Ospedale dei Bambini Vittore Buzzi
Milano, Lombardy, Italy
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