Foreign Body Reaction Following Use of a Novel Bone Graft Substitute in Pediatric Cranioplasty.

Pediatric cranioplasty is indicated to repair skull defects with a wide variety of etiologies. The choice of graft material used to fill the defect is of paramount importance to the long-term success of this procedure. A variety of synthetic products have been commercially developed to avoid donor site morbidity.

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

Genitopatellar syndrome (GPS) is a skeletal dysplasia with cerebral and genital anomalies for which the molecular basis has not yet been determined. By exome sequencing, we found de novo heterozygous truncating mutations in KAT6B (lysine acetyltransferase 6B, formerly known as MYST4 and MORF) in three subjects; then by Sanger sequencing of KAT6B, we found similar mutations in three additional subjects. The mutant transcripts do not undergo nonsense-mediated decay in cells from subjects with GPS.

Complete surgical resection is curative for children with hepatoblastoma with pure fetal histology: a report from the Children's Oncology Group.

Purpose: Children with pure fetal histology (PFH) hepatoblastoma treated with complete surgical resection and minimal adjuvant therapy have been shown to have excellent outcomes when compared with other patients with hepatoblastoma. We prospectively studied the safety and efficacy of reducing therapy in all children with stage I PFH enrolled onto two consecutive studies.

Patients And Methods: From August 1989 to December 1992, 9 children with stage I PFH were treated on the Intergroup Hepatoblastoma study INT-0098 and were nonrandomly assigned to receive chemotherapy after surgical resection with single-agent bolus doxorubicin for 3 consecutive days.

Amifostine does not prevent platinum-induced hearing loss associated with the treatment of children with hepatoblastoma: a report of the Intergroup Hepatoblastoma Study P9645 as a part of the Children's Oncology Group.

Background: The current study was conducted to determine whether amifostine is effective in reducing the toxicities associated with the administration of platinum-containing regimens in children with hepatoblastoma (HB).

Methods: Patients were enrolled on P9645 beginning in March of 1999. Patients who had stage I/II disease received treatment with 4 cycles of combined cisplatin, 5-fluorouracil, and vincristine (C5V) with or without amifostine.

Predictive power of pretreatment prognostic factors in children with hepatoblastoma: a report from the Children's Oncology Group.

Background: PRETEXT is used to stratify risk in children with hepatoblastoma by the Liver Tumor Strategy Group (SIOPEL) of the International Society of Pediatric Oncology (SIOP). A recent analysis excluding patients that did not survive neoadjuvant chemotherapy, concluded that PRETEXT was superior to Children's Oncology Group (COG) stage for predicting survival. Puzzled by this result, we made a similar comparison of PRETEXT and COG stage.

Intensified platinum therapy is an ineffective strategy for improving outcome in pediatric patients with advanced hepatoblastoma.

Purpose: The INT-0098 Intergroup Liver Tumor Study demonstrated no statistically significant differences in event-free and overall survival between patients randomized to treatment with either cisplatin + fluorouracil + vincristine (C5V) or cisplatin + doxorubicin. Results from this and other therapeutic trials suggested that cisplatin was the most active agent against hepatoblastoma. To increase the platinum dose-intensity, a novel regimen was developed alternating carboplatin and cisplatin (CC) every 2 weeks.

Ewing sarcoma as a second malignant neoplasm after acute lymphoblastic leukemia.

Second malignant neoplasms (SMNs) are being increasingly recognized. This report describes a case of a 7-year-old girl with a history of acute lymphoblastic leukemia (ALL) who presented with a mass in her humerus that was diagnosed as Ewing sarcoma. Second malignant neoplasms are relatively rare in survivors of ALL treated without radiation.

Blastic NK-cell-like lymphoma with T-cell receptor gene rearrangement.

Blastic natural killer (NK) cell lymphoma is very rare but has been recently classified as a distinct entity in WHO classification. However, the classification remains controversial, and the clinicopathologic spectrum is not completely understood. We report a unique case of cutaneous CD4(+) CD56(+) malignancy with a typical clinical presentation and immunophenotype of blastic NK-cell lymphoma in a 15-year-old Guamanian girl.

Molecular genetic diagnosis of pediatric cancer: current and emerging methods.

A wide array of diagnostic tests are available to evaluate molecular abnormalities in pediatric cancer. Classic cytogenetics, FISH, flow cytometry, PCR, and Southern blot analysis are in widespread use throughout pediatric hospitals. Examples of the application of these methods in pediatric cancer diagnosis are reviewed.

Hepatoblastoma: assessment of criteria for histologic classification.

Background: Comparison of outcomes in different clinicopathologic studies of hepatoblastoma requires reproducible histologic classification. This review examines the diagnostic criteria employed by different pathologists for the classification of subtypes of hepatoblastoma and identifies specific problem areas.

Procedure: A selected review of published literature is provided.

Clinical findings and lung pathology in children with cystic fibrosis.

Cystic fibrosis pulmonary disease is assessed by pulmonary function tests, arterial blood gases, and chest X-rays, but the correlation with lung pathology is unknown. We reviewed the clinical findings and lung pathology of 21 cystic fibrosis patients who had lung transplant. Pulmonary function tests, Brasfield scores, arterial blood gases, and age were correlated with lung pathology.