James R. Thomas

Evidence of an association between 6q13-21 chromosome aberrations and locally aggressive behavior in patients with cartilage tumors

The finding of a cytogenetic‐pathologic correlation between complex karyotypes and high grade cartilaginous tumors has been reported. However, few cytogenetic reports exist regarding benign or low grade lesions. A subset of low grade malignant cartilaginous tumors is characterized by locally aggressive behavior but no metastatic potential. Because the histopathologic distinction between benign, borderline, or low grade malignant cartilaginous lesions can be difficult, the finding of additional tumor markers associated with the clinical behavior of borderline cartilaginous lesions could be clinically significant.

Telomeric associations in the progression of chromosome aberrations in pediatric solid tumors

Telomeric association (tas) is a cytogenetic phenomenon in which chromosome ends fuse to form dicentric, multicentric, and ring chromosomes. We observed clonal tas in six pediatric solid tumors of various types and histological grades studied using short-term in situ culture and G-banding techniques. These tumors included a neurilemoma, an undifferentiated (embryonal) sarcoma of the liver (UESL), two anaplastic astrocytomas (AA), one case of glioblastoma multiforme (GBM), and a neuroblastoma (NB) of the kidney. Cytogenetic data from all six tumors demonstrated multiple numerical and structural aberrations including tas. The tas appeared to be a secondary aberration in these tumors, however, it was possible to follow the progression of the telomeric chromosome aberrations in several cases. In all but one case (UESL) the loss of chromosome segments occurred. Tas of 11p was observed in three of the six tumors, two of which showed the subsequent loss of 11p (AA and AB). In addition, tas of 4p was seen in three tumors, two of which showed clonal tas of 4p with 22q. Tas of 10p, 21p, and 22q were all observed in at least two different tumors. The clonal telomeric fusions of 4p with 22q, recurring tas of 11p, and the subsequent loss of the short arm of 11 demonstrated here, suggests that some chromosome regions are subject to nonrandom instability and sometimes loss.

Gastrointestinal autonomic nerve tumor presenting as high-grade sarcoma. Case report and review of the literature.

SummaryGastrointestinal autonomic nerve (GAN) tumors, also known as plexosarcomas, are a rare distinct subtype of the gastrointestinal stromal tumors. These tumors are usually histologically low-grade, epithelioid or spindle-cell neoplasms that can be distinguished from the other gastrointestinal stromal tumors on the basis of their unique ultrastructural features. A 66-year-old female presented with a histologically high-grade sarcoma of the small bowel. Ultrastructural studies showed features of a GAN tumor. The light microscopic and ultrastructural features are described. The tumor cells gave strong, diffuse staining for vimentin and synaptophysin, and weak focal staining for neuron-specific enolase and S100. While usually presenting as low-grade neoplasms on histologic examination, this case demonstrates that GAN tumors should be considered in the differential diagnosis of a histologically high-grade sarcoma of the gastrointestinal tract, especially when evidence of smooth muscle, peripheral nerve sheath, or neuroblastic origin is not forthcoming.

Recurring breakpoints of 1p13∼p22 in osteochondroma

Cytogenetic studies of osteochondromas are scarce but have previously shown recurring clonal aberrations involving chromosome 8. We have studied a series of eight tumors and have found recurring aberrations not only involving chromosome 8, but also chromosome 1 in five of the seven abnormal tumors. Surprisingly, three of the chromosome 1 aberrations involved pericentric inversions. Four tumors showed aberrations involving the region 1p13∼p22 by mechanisms including inversion, insertion, and translocation. These findings indicate that aberrations of chromosome 1p, in a region spanning 1p13∼p22, may be nonrandomly involved in the cytogenetic progression of osteochondroma.

Atypical solitary fibrous tumor of the larynx.

Solitary fibrous tumor (SFT) is a rare spindle cell neoplasm that develops most commonly as a pleura-based lesion within the thoracic cavity. In fact, the lesion was first characterized as a primary pleural lesion by Klemperer and Rabin in 1931. This lesion was initially believed to be of mesothelial origin and was known by many names, reflective of its “presumed” histogenesis, such as localized fibrous mesothelioma, solitary fibrous mesothelioma, and submesothelial fibroma. This lesion is now being recognized as a distinct entity with characteristic morphologic and immunophenotypic features. In the head and neck regions, SFTs have been described in the orbit; the lacrimal, parotid, sublingual, and thyroid glands; the parapharyngeal space; as well as the nasal and oral cavities. The clinical behavior of SFTs is unpredictable. Even though about 10% to 15% of SFTs demonstrate local recurrences and distant metastasis, very few patients actually die of their diseases. Here we present a case of SFT arising from a highly unusual place— the larynx of a 65-year-old woman. A 65-year-old white woman with a 45-year history of smoking was referred to the Department of OtolaryngologyHead and Neck Surgery, University of Arkansas for Medical Sciences, for evaluation of a laryngeal mass. The patient presented with hoarseness that had persisted for a year before this visit. Computed tomography scan with contrast revealed a 2.5 x 3 cm polypoid mass centered in the left supraglottic larynx (Fig 1). A biopsy of the mass was performed. Morphologically, the lesion consisted of a fibrous lesion with overlying unremarkable squamous mucosa. The fibrous lesion contained both hypercellular and hypocellular areas, admixed with hyalinized fibrous bands and prominent branching vasculature (Figs 2A, 2B, 2C), frequently described as “hemangiopericytoma-like.” The cellular area demonstrated 7–10 mito-

Low-Grade astrocytoma with a complex four-breakpoint inversion of chromosome 8 as the sole cytogenetic aberration

We report a case of a low-grade astrocytoma in a 10-year-old boy in which the sole cytogenetic aberration was a complex four-breakpoint inversion of chromosome 8 with the karyotype designation 46,XY,der(8)inv(8)(p23q24)inv(8)(q11q21). Two protooncogenes on chromosome 8, MOS at 8q11 and MYC at 8q24, are located at or near the bands which correspond to two of the breakpoints in this inversion. The localization of the structural aberrations to four breakpoints on chromosome 8 provides a rare example of a solid tumor with structural aberrations limited to a single chromosome.

A novel reciprocal (10;17)(p11.2;q23) in myxoid fibrosarcoma

Recurring reciprocal translocations have been identified as the primary chromosome aberrations in a number of neoplasms. These aberrations are often closely associated with particular morphologic or phenotypic subtypes of tumors and in some cases have prognostic implications. We have identified a novel reciprocal t(10;17)(p11.2;q23) in a case of low-grade myxoid fibrosarcoma, which may prove to be a new tumor specific chromosome aberration.

Giant-cell tumor of bone : a rare entity in the hands of children

Giant-cell tumor of bone is a relatively uncommon tumor in skeletally immature patients. It also occurs only infrequently in the hand. We present two cases of this tumor occurring in the hands of pediatric patients and discuss the literature regarding this disease process, including clinical presentation, pathology, and options for treatment.

64 Bilateral Vocal Fold Paralysis Secondary to Familial Hypokalemic Periodic Paralysis

the hypopharynx or esophagus. Asymptomatic osteophytes of the anterior margin of the cervical spine occur in 20% to 30% of the population. Although osteophytes are common, dysphagia associated with this abnormality is exceedingly rare. We have treated a patient with dysphagia secondary to a posttraumatic synostosis of the cervical spine to the thyroid cartilage and cricopharyngeal spasm. This represents the first reported case, to our knowledge, of a post-traumatic synostosis between the cervical spine and thyroid cartilage. Three-dimensional reconstructions of computed tomographic images are used to define the anatomic anomaly and are useful when planning surgical approaches.