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3. Transient Myeloproliferative Disorder (TMD), Acute Lymphoblastic Leukemia (ALL), and Juvenile Myelomonocytic Leukemia (JMML) in a Child with Noonan Syndrome: Sequential Occurrence, Single Center Experience, and Review of the Literature.

Author

Arrabito, Marta, Li Volsi, Nicolò, La Rosa, Manuela, Samperi, Piera, Pulvirenti, Giulio, Cannata, Emanuela, Russo, Giovanna, Di Cataldo, Andrea, and Lo Nigro, Luca

Subjects
BLOOD diseases, JUVENILE diseases, HEMATOPOIETIC stem cell transplantation, LYMPHOBLASTIC leukemia, MYELOPROLIFERATIVE neoplasms
Abstract

Noonan syndrome (NS) is an autosomal dominant disorder that varies in severity and can involve multiple organ systems. In approximately 50% of cases, it is caused by missense mutations in the PTPN11 gene (12q24.13). NS is associated with a higher risk of cancer occurrence, specifically hematological disorders. Here, we report a case of a child who was diagnosed at birth with a transient myeloproliferative disorder (TMD). After two years, the child developed hyperdiploid B-cell precursor acute lymphoblastic leukemia (BCP-ALL), receiving a two-year course of treatment. During her continuous complete remission (CCR), a heterozygous germline mutation in the PTPN11 gene [c.218 C>T (p.Thr73lle)] was identified. At the age of ten, the child presented with massive splenomegaly, hyperleukocytosis, and thrombocytopenia, resulting in the diagnosis of juvenile myelomonocytic leukemia (JMML). After an initial response to antimetabolite therapy (6-mercaptopurine), she underwent haploidentical hematopoietic stem cell transplantation (HSCT) and is currently in complete remission. The goal of this review is to gain insight into the various hematological diseases associated with NS, starting from our unique case. [ABSTRACT FROM AUTHOR]

Published
2024
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4. Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility

Author

Ciceri, Sara, Gamba, Beatrice, Corbetta, Paola, Mondini, Patrizia, Terenziani, Monica, Catania, Serena, Nantron, Marilina, Bianchi, Maurizio, D’Angelo, Paolo, Torri, Federica, Macciardi, Fabio, Collini, Paola, Di Martino, Martina, Melchionda, Fraia, Di Cataldo, Andrea, Spreafico, Filippo, Radice, Paolo, and Perotti, Daniela

Subjects
Genetics, Pediatric, Human Genome, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, AIEOP study group, CHEK2, SNP array, Wilms tumor, Oncology and Carcinogenesis
Abstract

Wilms tumour (WT), the most frequent malignant childhood renal tumour, shows a high degree of genetic and epigenetic heterogeneity. Loss of imprinting on chromosome 11p15 is found in a large fraction of cases and mutations in a few genes, including WT1, CTNNB1, WTX, TP53 and, more recently, SIX1, SIX2 and micro RNA processing genes (miRNAPGs), have been observed. However, these alterations are not sufficient to describe the entire spectrum of genetic defects underlying WT development. We inspected data obtained from a previously performed genome-wide single nucleotide polymorphism (SNP) array analysis on 96 WT samples. By selecting focal regions commonly involved in chromosomal anomalies, we identified genes with a possible role in WT development, based on the prior knowledge of their biological relevance, including MYCN, DIS3L2, MIR562, HACE1, GLI3, CDKN2A and CDKN2B, PALB2, and CHEK2. The MYCN hotspot mutation c.131C>T was detected in seven cases (7.3%). Full sequencing of the remaining genes disclosed 16 rare missense variants and a splicing mutation. Most of these were present at the germline level. Promoter analysis of HACE1, CDKN2A and CDKN2B disclosed partial methylation affecting HACE1 in a consistent fraction of cases (85%). Interestingly, of the four missense variants identified in CHEK2, three were predicted to be deleterious by in silico analyses, while an additional variant was observed to alter mRNA splicing, generating a functionally defective protein. Our study adds additional information on putative WT genes, and adds evidences involving CHEK2 in WT susceptibility.

Published
2018

6. Metastatic Neuroblastoma Confined to Distant Lymph Nodes (stage 4N) Predicts Outcome in Patients With Stage 4 Disease: A Study From the International Neuroblastoma Risk Group Database

Author

Morgenstern, Daniel A, London, Wendy B, Stephens, Derek, Volchenboum, Samuel L, Hero, Barbara, Di Cataldo, Andrea, Nakagawara, Akira, Shimada, Hiroyuki, Ambros, Peter F, Matthay, Katherine K, Cohn, Susan L, Pearson, Andrew DJ, and Irwin, Meredith S

Subjects
Cancer, Pediatric, Rare Diseases, Neuroblastoma, Neurosciences, Clinical Research, Cohort Studies, Disease-Free Survival, Humans, Infant, Loss of Heterozygosity, Lymph Nodes, Lymphatic Metastasis, Neoplasm Metastasis, Neoplasm Staging, Prognosis, Retrospective Studies, Risk Factors, Treatment Outcome, Clinical Sciences, Oncology and Carcinogenesis, Oncology & Carcinogenesis
Abstract

PurposeThe presence of distant metastases is one of the most powerful predictors of outcome in patients with neuroblastoma. However, the pattern of metastatic spread is not incorporated into current risk stratification systems. Small case series have suggested that patients with neuroblastoma who have metastatic disease limited to distant lymph nodes (4N disease) may have improved outcomes.Patients and methodsWe analyzed retrospective data from the International Neuroblastoma Risk Group database for patients diagnosed from 1990 to 2002. 4N patients were compared with the remaining stage 4 patients (non-4N), excluding those with missing metastatic site data.ResultsIn all, 2,250 International Neuroblastoma Staging System stage 4 patients with complete data were identified, of whom 146 (6.5%) had 4N disease. For 4N patients, event-free survival (EFS; 5-year, 77% ± 4%) and overall survival (OS; 5-year, 85% ± 3%) were significantly better than EFS (5-year, 35% ± 1%) and OS (5-year, 42% ± 1%) for non-4N stage 4 patients (P < .001). 4N patients were more likely to be younger (P < .001) and have tumors with favorable characteristics, including absence of MYCN amplification (89% v 69%; P < .001). In a multivariable analysis, 4N disease remained a significant predictor of outcome (hazard ratio for non-4N v 4N: 3.40 for EFS and 3.69 for OS). Within subgroups defined by age at diagnosis and tumor MYCN status, 4N disease was significantly associated with improved outcomes.Conclusion4N represents a subgroup with better outcome than that of other patients with metastatic disease. These findings suggest that the biology and treatment response of 4N tumors differ from other stage 4 tumors, and less intensive therapy should be considered for this cohort. Future exploration of biologic factors determining the pattern of metastatic spread is warranted.

Published
2014

8. Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Author

Farruggia, Piero, Di Cataldo, Andrea, Pinto, Rita M., Palmisani, Elena, Macaluso, Alessandra, Valvo, Laura Lo, Cantarini, Maria E., Tornesello, Assunta, Corti, Paola, Fioredda, Francesca, Varotto, Stefania, Martire, Baldo, Moroni, Isabella, Puccio, Giuseppe, Russo, Giovanna, Dufour, Carlo, Pillon, Marta, Baumgartner, Matthias, Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, and Zschocke, Johannes, Series editor

Published
2016
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11. Molecular Signature of Biological Aggressiveness in Clear Cell Sarcoma of the Kidney (CCSK)

Author

Fiore, Michele, primary, Taddia, Alberto, additional, Indio, Valentina, additional, Bertuccio, Salvatore Nicola, additional, Messelodi, Daria, additional, Serravalle, Salvatore, additional, Bandini, Jessica, additional, Spreafico, Filippo, additional, Perotti, Daniela, additional, Collini, Paola, additional, Di Cataldo, Andrea, additional, Pasquinelli, Gianandrea, additional, Chiarini, Francesca, additional, Fois, Maura, additional, Melchionda, Fraia, additional, Pession, Andrea, additional, and Astolfi, Annalisa, additional

Published
2023
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12. Neuroblastic tumors and neurofibromatosis type 1: A retrospective multicenter study in Italy and systematic review of the literature

Author

Puglisi, Federica, primary, Soma, Rachele, additional, Podda, Marta, additional, Vetrella, Simona, additional, Rabusin, Marco, additional, Tropia, Serena, additional, Meli, Mariaclaudia, additional, Russo, Giovanna, additional, Sorrentino, Stefania, additional, Erminio, Giovanni, additional, Pulvirenti, Alfredo, additional, Ruggieri, Martino, additional, and Di Cataldo, Andrea, additional

Published
2022
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14. Report of Two Cases of Pediatric IgG4-Related Lymphadenopathy (IgG4-LAD): IgG4-Related Disease (IgG4-RD) or a Distinct Clinical Pathological Entity?

Author

Meli, Mariaclaudia, primary, Arrabito, Marta, additional, Salvatorelli, Lucia, additional, Soma, Rachele, additional, Presti, Santiago, additional, Licciardello, Maria, additional, Miraglia, Vito, additional, Scuderi, Maria Grazia, additional, Belfiore, Giuseppe, additional, Magro, Gaetano, additional, Russo, Giovanna, additional, and Di Cataldo, Andrea, additional

Published
2022
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15. Suprarenal Masses in Very Young Infants: Is It Safe to Watch and Wait? Report of a SIOPEN Observational Study Results

Author

Papadakis, Vassilios, primary, Segura, Vanessa, additional, Conte, Massimo, additional, Plantaz, Dominique, additional, Di Cataldo, Andrea, additional, Schleiermacher, Gudrun, additional, Wheeler, Kate, additional, Bermúdez, Jose D., additional, Ash, Shifra, additional, Brichard, Bénédicte, additional, Ladenstein, Ruth, additional, Combaret, Valérie, additional, Sarnacki, Sabine, additional, Fagnani, Anna Maria, additional, Granata, Claudio, additional, and Cañete, Adela, additional

Published
2022
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16. Pediatric Version of the Nurse Caring Behavior Scale: A Cross-Sectional Study in Pediatric Hemato-Oncology Centers

Author

Fenizia, Elisa, primary, Marchese, Chiara, additional, La Spina, Milena, additional, Coppola, Luigi, additional, Rostagno, Elena, additional, Castaing, Marine, additional, De La Rosa, Rosanna, additional, Saenz, Raquel, additional, Fonte, Leonardo, additional, Longo, Antonella, additional, Ricciardi, Celeste, additional, Rizzo, Catia, additional, Di Cataldo, Andrea, additional, and Russo, Giovanna, additional

Published
2022
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21. Pediatric Version of the Nurse Caring Behavior Scale: A Cross-Sectional Study in Pediatric Hemato-Oncology Centers

Author

Fenizia, Elisa, Marchese, Chiara, La Spina, Milena, Coppola, Luigi, Rostagno, Elena, Castaing, Marine, 0000-0001-8367-7508, 0000-0002-9842-6688, Fonte, Leonardo, Longo, Antonella, Ricciardi, Celeste, Rizzo, Catia, Di Cataldo, Andrea, Russo, Giovanna, Universidad Pública de Navarra. Departamento de Ciencias de la Salud, and Nafarroako Unibertsitate Publikoa. Osasun Zientziak Saila

Subjects
pediatrics, assessment tools, cancer, factor analysis, General Medicine, family caregivers, General Nursing
Abstract

Background and PurposeCaring is an essential value in nursing, it’s crucial in pediatric hemato-oncology: we tested the Nurse Caring Behavior Scale (NCBS) in this setting.MethodsThe NCBS is a 14-item validated psychometric questionnaire: caregivers and nurses adapted versions were used. Descriptive statistics and exploratory factor analysis (EFA) were used.ResultsThe questionnaires were completed by 188 caregivers and 193 nurses. The two data sets were suitable for EFA and fitted with one-solution factor analysis; factor loading showed values >0.40 (>0.60 for caregivers). The mean scores were: 4.5 (range: 1–5) for caregivers and 4.7 (range: 1–5) for nurses.ConclusionThe two validated versions can be used on a wider nurses and caregivers sample and provide an instrument for the development of nursing protocols based on caring.

Published
2022

26. Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)

Author

Farruggia, Piero, primary, Di Cataldo, Andrea, additional, Pinto, Rita M., additional, Palmisani, Elena, additional, Macaluso, Alessandra, additional, Valvo, Laura Lo, additional, Cantarini, Maria E., additional, Tornesello, Assunta, additional, Corti, Paola, additional, Fioredda, Francesca, additional, Varotto, Stefania, additional, Martire, Baldo, additional, Moroni, Isabella, additional, Puccio, Giuseppe, additional, Russo, Giovanna, additional, Dufour, Carlo, additional, and Pillon, Marta, additional

Published
2015
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27. Psychopathological outcomes and defence mechanisms in clinically healed adults with a paediatric cancer history: an exploratory study

Author

Petralia, Antonino, primary, Bisso, Emanuele, additional, Concas, Ilaria, additional, Maglitto, Antonino, additional, Bucolo, Nunzio, additional, Alaimo, Salvatore, additional, Di Cataldo, Andrea, additional, Signorelli, Maria Salvina, additional, Pulvirenti, Alfredo, additional, and Aguglia, Eugenio, additional

Published
2021
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36. Self- and Parent-Reported Psychological Symptoms in Young Cancer Survivors and Control Peers: Results from a Clinical Center

Author

Barone, Rita, primary, Gulisano, Mariangela, additional, Cannata, Emanuela, additional, Padalino, Sara, additional, Saia, Federica, additional, Maugeri, Nicoletta, additional, Pettinato, Fabio, additional, Lo Nigro, Luca, additional, Casabona, Antonino, additional, Russo, Giovanna, additional, Di Cataldo, Andrea, additional, and Rizzo, Renata, additional

Published
2020
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39. Defining the impact of prognostic factors at the time of relapse for nonmetastatic rhabdomyosarcoma

Author

Affinita, Maria Carmen, primary, Ferrari, Andrea, additional, Chiaravalli, Stefano, additional, Melchionda, Fraia, additional, Quaglietta, Lucia, additional, Casanova, Michela, additional, Zanetti, Ilaria, additional, Scarzello, Giovanni, additional, Di Pasquale, Luisa, additional, Di Cataldo, Andrea, additional, and Bisogno, Gianni, additional

Published
2020
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41. Testicular Function of Childhood Cancer Survivors: Who Is Worse?

Author

Duca, Ylenia, primary, Di Cataldo, Andrea, additional, Russo, Giovanna, additional, Cannata, Emanuela, additional, Burgio, Giovanni, additional, Compagnone, Michele, additional, Alamo, Angela, additional, Condorelli, Rosita A., additional, La Vignera, Sandro, additional, and Calogero, Aldo E., additional

Published
2019
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42. Genomic coamplification of CDK4/MDM2/FRS2 is associated with very poor prognosis and atypical clinical features in neuroblastoma patients

Author

Amoroso, Loredana, primary, Ognibene, Marzia, additional, Morini, Martina, additional, Conte, Massimo, additional, Di Cataldo, Andrea, additional, Tondo, Annalisa, additional, D'Angelo, Paolo, additional, Castellano, Aurora, additional, Garaventa, Alberto, additional, Lasorsa, Vito A., additional, Podestà, Marina, additional, Capasso, Mario, additional, and Pezzolo, Annalisa, additional

Published
2019
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49. SKELETAL INVOLVEMENT IN INFANTS WITH NEUROBLASTOMA. A QUALITY CONTROL STUDY: P.I.008

Author

Angelini, P., De Bernardi, Bruno, Granata, Claudio, Villavecchia, Gianpiero, Prete, Arcangelo, Tettoni, Katia, Aru, Brigida, Di Cataldo, Andrea, Tamburini, Angela, Luksch, Roberto, Giuliano, Maria, Viscardi, Elisabetta, DʼAngelo, Paolo, Castellano, Aurora, Mastrangelo, Stefano, Bianchi, Maurizio, Balter, Rita, and Castellani, Rita

Published
2005

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