Sinonasal and laryngeal carcinoma in children: correlation of imaging characteristics with clinicopathologic and cytogenetic features.

BACKGROUND AND PURPOSE: Pediatric upper airway carcinoma is uncommon, symptoms are nonspecific, and diagnosis is often delayed. In this study, we describe the imaging, cytogenetics, and clinical courses of 4 patients with pediatric upper airway carcinoma. MATERIALS AND METHODS: Four patients with upper airway carcinoma were identified during a 2.5-year period. CT (n = 4) and MR imaging (n = 3) studies, tumor histopathologic features and cytogenetics, patient treatment, and clinical course were reviewed. RESULTS: Patients were aged 12 to 15 years. One tumor involved the larynx with poorly defined margins and heterogeneous enhancement; 1 heterogeneously enhancing tumor involved the epiglottis with necrotic cervical lymphadenopathy. There were 2 enhancing sinonasal tumors with bony destruction in 1 tumor. Tumors had a relatively short relaxation time on FSEIR MR imaging. Histopathologic examination revealed poorly differentiated squamous cell carcinoma (n = 3) and well-differentiated squamous cell carcinoma (n = 1). Cytogenetic analysis revealed chromosomal abnormalities in 3 tumors: 2 showed a chromosomal translocation t(15;19), and 1 showed a chromosomal translocation t(1;5) and loss of a portion of chromosome 22q. Results of in situ hybridization for EBV were negative (n = 3). Treatment included tumor resection (n = 2), chemotherapy (n = 4), and radiation therapy (n = 3). Patients with t(15;19) died months after diagnosis. Two patients were alive at 8-year follow-up. CONCLUSIONS: Childhood carcinoma of the upper airway is uncommon but should be considered in the diagnosis of upper airway tumors that display aggressive imaging characteristics. Carcinoma with t(15;19) is rare but has been reported, usually in young patients with midline carcinoma of the neck or mediastinum, with a rapidly fatal course.

Buccinator musculomucosal flap: applications in intraoral reconstruction.

OBJECTIVE: To evaluate the use of the buccinator musculomucosal flap in the reconstruction of defects of the oral cavity and oropharynx. DESIGN: Prospective case series of 8 patients during a 1-year period with an average follow-up of 1 year. Six anatomical dissections were performed on 3 fresh cadaver heads to investigate the neurovascular supply to the flap. SETTING: Academic tertiary referral medical center. RESULTS: The buccinator musculomucosal flap was used in the reconstruction of 8 defects of the oral cavity, retromolar trigone, and soft palate. There was 1 partial flap necrosis that occurred in a patient who had previously received radiation therapy and who healed secondarily without sequelae. No patient experienced difficulties with mastication or oral competence. All patients reported light single-point touch sensation over the flap 2 weeks after surgery. Cadaveric dissections using latex or india ink injections demonstrated the posterior neurovascular supply from the buccal artery, a branch of the internal maxillary artery, and the buccal nerve, a branch of the mandibular nerve. CONCLUSIONS: The buccinator musculomucosal flap is a dependable local sensate flap with a well-defined neurovascular pedicle that can be used in a variety of intraoral reconstructions obviating the need for distal tissue harvest.

A simple method for closure of tracheocutaneous fistula in children.

OBJECTIVE: To review the results of a simple technique of closure of persistent tracheocutaneous fistula (TCF) in children. DESIGN: Retrospective case series. SETTING: Tertiary pediatric otolaryngology referral center. PATIENTS: Children (age, < 18 years) who underwent repair of TCF from July 1, 1991, to August 31, 1996. INTERVENTIONS: Surgical closure of persistent TCF using multilayered closure of de-epithelialized local tissue. Tracheal dissection was not performed. A thermal hemostatic scalpel was used in some cases to assist in de-epithelialization and provide hemostasis without electrocautery near the airway. MAIN OUTCOME MEASURES: Success of closure and number and types of complications. RESULTS: Nine procedures were performed in 8 children. Seven (88%) of 8 primary procedures were successful, but early recurrent TCF developed in 1 patient. Revision surgery using an identical surgical technique, but maintaining endotracheal intubation for 48 hours, was successful in this patient. No complications occurred. CONCLUSIONS: This procedure is a simple, reliable method for closure of TCF in children.

The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites.

Fragile X syndrome is a common form of mental retardation associated with a fragile site on the human X chromosome. Although fragility at this site is usually evident as a nonstaining chromatid gap, it remains unclear whether or not actual chromosomal breakage occurs. By means of somatic cell hybrids containing either a normal human X or a fragile X chromosome and utilizing two genes that flank the fragile site as markers of chromosome integrity, segregation of these markers was shown to be more frequent if they encompass the fragile site under appropriate culture conditions. Hybrid cells that reveal marker segregation were found to contain rearranged X chromosomes involving the region at or near the fragile site, thus demonstrating true chromosomal breakage within this area. Two independent translocation chromosomes were identified involving a rodent chromosome joined to the human X at the location of the fragile site. DNA analysis of closely linked, flanking loci was consistent with the position of the breakpoint being at or very near the fragile X site. Fragility at the translocation junctions was observed in both hybrids, but at significantly lower frequencies than that seen in the intact X of the parental hybrid. This observation suggests that the human portion of the junctional DNA may contain part of a repeated fragility sequence. Since the translocation junctions join heterologous DNA, the molecular cloning of the fragile X sequence should now be possible.