Annalisa Serra

Unresectable multifocal omental and peritoneal inflammatory myofibroblastic tumor in a child: revisiting the role of adjuvant therapy

Inflammatory myofibroblastic tumor is an uncommon lesion, also called pseudotumor, with a variable natural course from benign with spontaneous regression to mimicking malignant tumors. We report a case of diffuse peritoneal and omental pseudotumor in a 10-year-old boy characterized by aggressive behavior at the onset followed by stability after subtotal resection and chemotherapy. Total excision was not possible because of the tumor dissemination over the whole peritoneal surface. Adjuvant antiinflammatory drug (ketorolac tromethamine) and chemotherapy (methotrexate-vinblastine followed by ifosfamide-adriamycin and ifosfamide alone) were helpful to obtain rapidly complete resolution of clinical symptoms and anatomic stability of the residual lesions. Long-term evolution, in the absence of continued therapy, has been characterized by progressive involution and reduction of the residual masses.

A survey on hematology-oncology pediatric AIEOP centers: prophylaxis, empirical therapy and nursing prevention procedures of infectious complications

A nationwide questionnaire-based survey was designed to evaluate the management and prophylaxis of febrile neutropenia in pediatric patients admitted to hematology-oncology and hematopoietic stem cell transplant units. Of the 34 participating centers, 40 and 63%, respectively, continue to prescribe antibacterial and antimycotic prophylaxis in low-risk subjects and 78 and 94% in transplant patients. Approximately half of the centers prescribe a combination antibiotic regimen as first-line therapy in low-risk patients and up to 81% in high-risk patients. When initial empirical therapy fails after seven days, 63% of the centers add empirical antimycotic therapy in low-and 81% in high-risk patients. Overall management varies significantly across centers. Preventive nursing procedures are in accordance with international guidelines. This survey is the first to focus on prescribing practices in children with cancer and could help to implement practice guidelines.

Synchronous Bilateral Wilms Tumor A Report from the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP)

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.

Characterization of medulloblastoma in Fanconi Anemia: a novel mutation in the BRCA2 gene and SHH molecular subgroup

AbstractFanconi Anemia (FA) is an inherited disorder characterized by the variable presence of multiple congenital somatic abnormalities, bone marrow failure and cancer susceptibility. Medulloblastoma (MB) has been described only in few cases of FA with biallelic inactivation in the tumor suppressor gene BRCA2/FANCD1 or its associated gene PALB2/FANCN. We report the case of a patient affected by Fanconi Anemia with Wilms tumor and unusual presentation of two medulloblastomas (MB1 and MB2). We identified a new pathogenetic germline BRCA2 mutation: c.2944_2944delA. Molecular analysis of MBs allowed us to define new features of MB in FA. MBs were found to belong to the Sonic Hedgehog (SHH) molecular subgroup with some differences between MB1 and MB2. We highlighted that MB in FA could share molecular aspects and hemispheric localization with sporadic adult SHH-MB. Our report provides new findings that shed new light on the genetic and molecular pathogenesis of MB in FA patients with implications in the disease management.

Adaptive functioning in children in the first six months after surgery for brain tumours

Purpose. To examine the adaptive functioning of children who underwent surgery for brain tumours with a view to analyse the related acute impairments and to describe their short-term outcome. Method. We investigated adaptive functioning in 25 children (ranging from 2 to 18 years of age) for 40 days and again 3 and 6 months after they underwent surgery for various brain tumours. The Vineland Adaptive Behaviour Scales (VABS) were used to assess their adaptive functioning, considering the four main domains and all the subdomains. Results. The results remained stable over the follow-up period considered. The domain in which the scores were most severely affected was Daily Living, followed by the Socialisation and Communication domains. Within the Communication domain, the abilities investigated in the Receptive subdomain revealed the worst impairments. Within the Daily Living domain, impairments were most evident in the childrens capacity to take care of themselves and handle domestic activities. In the Socialisation domain, Play and Leisure Time, and Interpersonal Relationships were the subdomains most severely impaired. Conclusions. These findings are relevant because identifying childrens adaptive functioning difficulties sooner could help their rehabilitation to be tailored and thus have a positive fallout on their long-term outcome.

Successful treatment of trilateral retinoblastoma with conventional and high-dose chemotherapy plus radiotherapy: a case report.

Trilateral retinoblastoma (TRB) is a rare condition characterized by an intracranial neuroblastic tumor associated with bilateral or unilateral retinoblastoma (RB). The outcome is almost always fatal. An 18-month-old patient with familial bilateral RB was referred for a pineal lesion detected on a screening by magnetic resonance imaging. The child, considered inoperable by 2 different neurosurgical teams, was treated with conventional chemotherapy (methotrexate, vincristine, vepeside, cyclophosphamide, and carboplatin) plus tandem transplantation (vepeside/carboplatin and thiotepa/mephalan) followed by local radiotherapy. At 80 months from the diagnosis of TRB, the patient is alive and in complete remission, with no neuropsychologic consequences. An early and aggressive treatment may improve the prognosis of TRB.

A dedicated protocol and environment for central venous catheter removal in pediatric patients affected by onco-hematological diseases

Purpose The removal of long-term central venous catheters (CVCs) is not performed according to evidence-based guidelines, thus conveying the message that it is a procedure of secondary importance. Our study aims at comparing the experience at Bambino Gesù Pediatric Hospital before and after the implementation of a dedicated protocol and the identification of a specific area to perform such a procedure under the so-called nonoperating room anesthesia (NORA). Methods Starting on January 1, 2010, an appropriate protocol regarding long-term CVC removal was applied. Then, data from all patients who underwent CVC removal under NORA regimen were compared with patients who have undergone the same procedure before the beginning of such protocol in terms of complication rate, duration of procedure, and costs. Results Between January 2010 and December 2012, 266 patients were evaluated for long-term CVC removal under a NORA regimen. Of these, 194 underwent the procedure. In the period from January 2007 to December 2009, 60 out of 82 patients scheduled for elective removal of long-term CVC in the operating theatre were eligible for this study. Median procedure time was 7 min for removal in NORA and 10 min for the operating theatre (p=0.016); no complications occurred. Conclusion Long-term CVC removal is an often-neglected procedure, carrying a small, but definite rate of complications. Our study shows that CVC removal performed in NORA regimen is safe and feasible, also allowing multiple procedures in the same session with prompt management of possible complications and reduction of the anxiety and pain associated with the procedure.

Recurrent metanephric stromal tumor in an infant.

A 9-month-old boy underwent nephrectomy for a renal mass. Congenital mesoblastic nephroma was diagnosed, and the patient received postoperative chemotherapy. Tumor recurred 6 months later as a scrotal mass. After orchiectomy, diagnosis of metanephric stromal tumor (MST) was made; review of the nephrectomy specimens confirmed this diagnosis. No additional treatment was given, and the child is alive and well 31 months later. Taking into account the histopathological entity of MST in the differential diagnosis of stromal renal tumors in childhood can spare the patient further, potentially toxic, treatment even in the case of relapse, as reported here for the first time.

Rhabdomyosarcoma associated hypertrophic osteoarthropathy in a child: detection by bone scintigraphy.

Hypertrophic osteoarthropathy (HOA) is characterized by digital clubbing, long bone periosteal reaction, and polyarthralgias. Primary familial HOA is very rare and is not associated with underlying disorders and has a good prognosis. Secondary pediatric nonneoplastic HOA is associated with cystic fibrosis, congenital heart disease, biliary atresia, and inflammatory bowel disease. Secondary neoplastic HOA may be associated with intra or extrathoracic tumors.A 5-year-old girl was admitted to our hospital for an abdominal mass, digital clubbing, and diffuse articular pain. The bone scan revealed symmetrical tracer uptake in the long bones. Upper and lower extremity x-rays were diagnostic for HOA. Paraneoplastic HOA in childhood accounts for not more than 12% of HOA paitents. HOA has been reported in 2 other cases of rhabdomyosarcoma.

Factors possibly affecting prognosis in children with Wilms’ tumor diagnosed before 24 months of age: A report from the Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) Wilms Tumor Working Group

Children with Wilms’ tumor (WT) aged under 24 months (infants) have a better prognosis than older patients. Our aim was to study the epidemiology of this age group, with focus on the modality of diagnosis, tumor size, and association with malformations/syndromes, seeking to understand if any of these factors might be related to prognosis.