Langerhans Cell Histiocytosis of the Head and Neck: Experience at a Rural Tertiary Referral Center.

Objectives: Retrospectively analyze head and neck Langerhans Cell Histiocytosis at a rural tertiary referral center and compare results with previously published data.

Methods: Electronic health record review was performed from 2003 to 2019. Patients with biopsy proven LCH with primary head and neck involvement were included.

Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.

Replication repair deficiency (RRD) leading to hypermutation is an important driving mechanism of high-grade glioma (HGG) occurring predominantly in the context of germline mutations in RRD-associated genes. Although HGG presents specific patterns of DNA methylation corresponding to oncogenic mutations, this has not been well studied in replication repair-deficient tumors. We analyzed 51 HGG arising in the background of gene mutations in RRD utilizing either 450 k or 850 k methylation arrays.

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.

Purpose: Constitutional mismatch repair deficiency (CMMRD) is a highly penetrant cancer predisposition syndrome caused by biallelic mutations in mismatch repair (MMR) genes. As several cancer syndromes are clinically similar, accurate diagnosis is critical to cancer screening and treatment. As genetic diagnosis is confounded by 15 or more pseudogenes and variants of uncertain significance, a robust diagnostic assay is urgently needed.

A Rare Initial Presentation of Primary Diffuse Leptomeningeal PNET in a 10-Year-Old-Male.

Primary leptomeningeal primitive neuroectodermal tumors (PNETs) are extremely rare childhood central nervous system malignancies harboring a very poor prognosis. There is no consensus treatment for these tumors to date. We report a case of a 10-year-old male who presented with mental status change, hydrocephalus, intracranial and spinal diffuse leptomeningeal enhancement without a primary mass upon cranial imaging and a negative initial biopsy until five months into his presentation.

Effects of sodium thiosulfate versus observation on development of cisplatin-induced hearing loss in children with cancer (ACCL0431): a multicentre, randomised, controlled, open-label, phase 3 trial.

Background: Sodium thiosulfate is an antioxidant shown in preclinical studies in animals to prevent cisplatin-induced hearing loss with timed administration after cisplatin without compromising the antitumour efficacy of cisplatin. The primary aim of this study was to assess sodium thiosulfate for prevention of cisplatin-induced hearing loss in children and adolescents.

Methods: ACCL0431 was a multicentre, randomised, open-label, phase 3 trial that enrolled participants at 38 participating Children's Oncology Group hospitals in the USA and Canada.

Parameningeal rhabdomyosarcoma in a patient with Costello syndrome.

Costello syndrome, a rare entity with multiple congenital anomalies, has been associated with a high incidence of benign and malignant tumors, particularly rhabdomyosarcoma. Although the head and neck is the most common site for rhabdomyosarcomas in children, only one other case in the literature has been reported of a head and neck rhabdomyosarcoma in a Costello patient. The authors describe a 3-year-old with a parameningeal infratemporal fossa rhabdomyosarcoma.

Effects of amifostine on clonogenic mesenchymal progenitors and hematopoietic progenitors exposed to radiation.

Purpose: To determine the radiation sensitivities of mesenchymal progenitors and hematopoietic progenitors, and to determine the in vitro effects of amifostine on hematopoietic and mesenchymal progenitors exposed to radiation.

Methods: Radiosensitivity of mesenchymal progenitor cells was determined by exposing marrow low-density cells to radiation at doses of 100 to 800 cGy. Mesenchymal cell colonies were established by plating 2.

Hematuria due to urolithiasis in a child with chronic immune thrombocytopenic purpura.

Hematuria is an uncommon manifestation of chronic immune thrombocytopenic purpura. The occurrence of urolithiasis in children with chronic immune thrombocytopenic purpura has not been described. We report a case of hematuria due to urolithiasis in an 8-year-old boy with chronic immune thrombocytopenic purpura.