Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer.

You-Hoover-Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have been reported and none of them has been reported to develop tumors.

Case report: A second case of cerebral cavernous malformation after high-dose chemotherapy for medulloblastoma.

The development of cerebral cavernous malformations (CCMs) is a well-recognized sequela of irradiation to the brain in pediatric tumors, particularly in medulloblastoma, glioma, and acute lymphoblastic leukaemia. So far, only one case of cerebral cavernoma after chemotherapy with autologous hematopoietic stem cell transplantation (HSCT) has been described. We describe a case of a patient with medulloblastoma aged 18 months at the time of oncological diagnosis who was treated with high-dose chemotherapy followed by HSCT and who developed CCM two years later.

Magnetic resonance features and cranial nerve involvement in pediatric head and neck rhabdomyosarcomas.

Purpose: Rhabdomyosarcoma (RMS) is a malignant tumor frequent in children. The frequency and characteristics of cranial nerve involvement in pediatric head and neck (H&N) RMS have been scarcely reported. The aim of this study is to review a large cohort of pediatric head and neck RMS with an emphasis on cranial nerve involvement.

Bone marrow biopsy in the initial staging of Ewing sarcoma: Experience from a single institution.

Background: Ewing sarcoma (ES) is the second most common bone tumor in adolescents and children. Staging workup for ES includes imaging and bone marrow biopsy (BMB). The effective role of BMB is now under discussion.

Sinusoidal obstruction syndrome/veno-occlusive disease after high-dose intravenous busulfan/melphalan conditioning therapy in high-risk Ewing Sarcoma.

This mono-institutional observational study was conducted to determine incidence, severity, risk factors, and outcome of sinusoidal obstruction syndrome/veno-occlusive disease (SOS/VOD) in high-risk Ewing sarcoma (ES) patients treated with intravenous busulfan and melphalan (BU-MEL) followed by autologous stem cell transplantation (ASCT). During the past 10 years, 75 consecutive ES patients resulted evaluable for the analysis. After diagnosis of SOS/VOD, defibrotide therapy was started as soon as the medication was available.

Erratum to: Osteosarcoma follow-up: chest X-ray or computed tomography?

[This corrects the article DOI: 10.1186/s13569-017-0067-5.].

Post-relapse survival in patients with Ewing sarcoma.

Background: Post-relapse survival (PRS) was evaluated in patients with Ewing sarcoma (EWS) enrolled in chemotherapy protocols based on the use of high-dose chemotherapy with busulfan and melfalan (HDT) as a first-line consolidation treatment in high-risk patients.

Procedure: EWS patients enrolled in ISG/SSG III and IV trials who relapsed after complete remission were included in the analysis. At recurrence, chemotherapy based on high-dose ifosfamide was foreseen, and patients who responded but had not received HDT underwent consolidation therapy with HDT.

Chemotherapy-related toxicity in patients with non-metastatic Ewing sarcoma: influence of sex and age.

Influence of age and sex on chemotherapy-related toxicity was evaluated in children (3-9 years), adolescents (10-17 years), and adults (up to 40 years) with localized Ewing sarcoma (ES) enrolled in the ISG/SSG III protocol. Treatment was based on vincristine, doxorubicin, cyclophosphamide, ifosfamide, dactinomycin, and etoposide. High-dose chemotherapy with busulfan and melphalan was given in poor responder patients.

Analysis of risk factors for central venous catheter-related complications: a prospective observational study in pediatric patients with bone sarcomas.

Background: The incidence of central venous catheter (CVC)-related complications reported in pediatric sarcoma patients is not established as reports in available literature are limited. The analysis of risk factors is part of the strategy to reduce the incidence of CVC complications.

Objective: The objective of this study was to determine the incidence of CVC complications in children with bone sarcomas and if defined clinical variables represent a risk factor.

Non-metastatic osteosarcoma of the extremities in children aged 5 years or younger.

Background: The occurrence of high-grade osteosarcoma is rare in children aged 5 years or younger and only limited series or case reports have been described.

Methods: The records of patients aged 5 years or younger with non-metastatic high-grade osteosarcoma of the extremities treated with surgery and adjuvant or neo-adjuvant chemotherapy at Rizzoli Institute between 1972 and 1999 were retrospectively evaluated in relation to gender, primary tumor site, histological subtype, surgical treatment, chemotherapy-induced tumor necrosis, 5- and 10-year event-free survival (EFS), and rate of local recurrence. Data were compared to patients aged 6-40 years entered with the same diagnosis and over the same time interval.