Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing.

Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variant (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis time and overall cost of testing. In this study, we used long-read sequencing (lrSeq) as a proof-of-concept to determine whether clinically relevant (cr) SVs could be detected within a small (n = 17) pediatric leukemia cohort.

Next-Generation Sequencing in the Diagnosis of Rare Pediatric Sinonasal Tumors.

The diagnosis of desmoid fibromatosis or other spindle cell tumors in the sinonasal region is very rare in children and needs to be thoroughly confirmed with immunohistochemical and/or molecular tests. We report 2 patients with such rare tumors and describe the use of next-generation sequencing in their evaluation. A 3-year-old female had a 4.

The Children's Oncology Group: Organizational Structure, Membership, and Institutional Characteristics.

Background: The Children's Oncology Group (COG) is the only organization within the National Cancer Institute's National Clinical Trials Network dedicated exclusively to pediatric cancer research. The purpose of this article is to provide an overview of COG's organizational structure, to characterize its institutional and individual membership, and to summarize enrollments onto COG clinical trials.

Method: Data from 2013 to 2015 were compiled from sources internal (Network Operations, Statistics and Data Center, Chair's Office) and external (American Hospital Association, American Nurses Credentialing Center) to COG, to present a comprehensive overview of COG's structure, individual and institutional membership, and group operations.

Neuroblastoma in children: Update on clinicopathologic and genetic prognostic factors.

Neuroblastoma is the most common extracranial solid tumor in childhood accounting for 8-10% of all childhood malignancies. The tumor is characterized by a spectrum of histopathologic features and a heterogeneous clinical phenotype. Modern multimodality therapy results in variable clinical response ranging from cure in localized tumors to limited response in aggressive metastatic disease.

Spitzoid melanoma in a child with Li-Fraumeni syndrome.

Spitzoid melanoma of childhood is a rare malignancy. The histological features are at the upper end of a range encompassing Spitz nevus and atypical Spitz tumor, the unifying features including large oval, fusiform or polygonal melanocytes with abundant homogeneous-appearing cytoplasma and large vesicular nuclei. The presence of a "bottom-heavy" pattern, strikingly enlarged nuclei and nucleoli in both the upper and lower portions of the lesion, and deep mitotic figures are among the findings that distinguish most of the Spitzoid melanomas from Spitz nevi and atypical Spitz tumors.

Treatment of chest wall osteosarcoma presenting as second primary after treatment of neuroblastoma.

Only 2 cases of osteosarcoma as a second primary malignancy after neuroblastoma have been reported in the literature. We present a case of chest wall osteosarcoma that developed in a 14-year-old boy 7 years after completion of chemotherapy, autologous peripheral blood stem cell transplantation, radiation, and resection for stage 3, high-risk neuroblastoma. A biopsy of a painful chest wall mass arising from the right third rib diagnosed osteosarcoma.

Giant ossifying malignant thymoma in a child.

We present the first reported case of an ossifying pediatric thymoma. Our patient was diagnosed with a massive thymoma replacing the whole of the left thoracic cavity. Percutaneous biopsy was attempted 3 times followed by an open incisional biopsy and adjuvant chemotherapy.

Neurodegenerative central nervous system Langerhans cell histiocytosis and coincident hydrocephalus treated with vincristine/cytosine arabinoside.

Background: Central nervous system (CNS) complications of Langerhans cell histiocytosis (LCH) include mass lesions and a neurodegenerative (ND) syndrome with ataxia, dysarthria, dysmetria, learning and behavior difficulties and/or characteristic changes on brain MRIs. Hydrocephalus has rarely been reported in LCH. LCH lesions of the orbit, mastoid and temporal bones ("CNS-Risk" lesions) and diabetes insipidus predispose patients to ND-CNS-LCH.

Minimal residual disease testing of acute leukemia by flow cytometry immunophenotyping: a retrospective comparison of detection rates with flow cytometry DNA ploidy or FISH-based methods.

The detection and quantification of minimal residual leukemia (MRD) has importance for monitoring continued disease response and detection of early relapse. We retrospectively compared MRD detection rates and percentages of residual leukemia by flow cytometry immunophenotyping (FCIP) with results obtained by either flow cytometry DNA (FCDNA) ploidy (n = 14) and/or fluorescent in situ hybridization (FISH) (n = 33) testing for cases with 1.5% or less residual leukemia.

Having a child diagnosed with cancer: an assessment of values from the mother's viewpoint.

The purpose of this qualitative study was to explore the mother's experience of having a child diagnosed with cancer. Semistructured interview questions, focused specifically on values, provided the foundation for the study. Each of the 9 participants was a mother of a child diagnosed with cancer 30 days prior to participation.