Case report: challenges in the diagnosis of adenopathy and extensive skin patch overlying a plasmacytoma syndrome.

Overproduction of a vascular endothelial growth factor secreted by neoplastic cells in some plasma cell neoplasms is postulated to be responsible for the syndrome of polyneuropathy, organomegaly, endocrinopathy, monoclonal protein, and skin changes and the rarer syndrome of adenopathy and extensive skin patch overlying a plasmacytoma. The authors present a case of a 57-year-old man who presented with an erythematous left flank skin patch and subsequent discovery of an underlying 10th rib plasmacytoma with lambda light chain restriction. The tumor was strongly positive for CD31, a marker known to be involved in angiogenesis and cell adhesion. Immunohistochemical studies were initially confounding and later shown to be due to the effects of decalcification procedures. The authors discuss the natural history of this unusual entity and the diagnostic challenges in evaluating this lesion. The authors finally postulate whether strong CD31 expression could be related to paraneoplastic phenomena associated with some plasma cell lesions.

Fluorescence in situ hybridization testing for -5/5q, -7/7q, +8, and del(20q) in primary myelodysplastic syndrome correlates with conventional cytogenetics in the setting of an adequate study.

Multiple studies, with differing results, have compared the added sensitivity of fluorescence in situ hybridization (FISH) with conventional cytogenetics (CC) to detect genetic abnormalities in myelodysplastic syndrome (MDS). We hypothesized that in the setting of an adequate CC study, FISH would correlate with microscopic genetic abnormalities involving chromosomes 5, 7, 8, and 20. We performed FISH for -5/5q, -7/7q, +8, and del(20q) on 102 MDS cases with normal CC (> or =20 consecutive metaphases) and on 35 MDS cases with abnormal CC. Of the 102 MDS cases with normal CC, only 1 was discrepant between FISH (showing +8) and CC (<1% of total cases). Of the 35 MDS cases with abnormal CC, 1 showed a minor discrepancy (-5 by CC vs del(5q) by FISH). FISH for MDS abnormalities (-5/5q, -7/7q, +8, and del(20q)) correlates with an adequate karyotypic result without increased sensitivity. Consequently, we recommend that FISH not be performed in MDS cases with an adequate karyotype.

Primary ocular presentation of sinonasal undifferentiated carcinoma.

The authors describe 2 consecutive patients who presented to Vanderbilt University Medical Center with primary orbital presentation of sinonasal undifferentiated carcinoma and were treated from July 2005 to April 2009. The patients were a 39-year-old woman and 54-year-old woman who both presented to the ophthalmology service due to complaints of diplopia. Imaging studies demonstrated large soft tissue masses originating in the sinuses with extension in the orbit in both cases. Both patients were treated with carboplatin, paclitaxel, and dexamethasone as induction chemotherapy followed by concurrent chemoradiation with intensity-modulated radiation therapy. This treatment regimen resulted in significant tumor shrinkage, resolution of symptoms, and no evidence of recurrence while avoiding surgical intervention and allowing orbital preservation.

Bartonella henselae endocarditis in a child.

14-year-old white male with a past medical history of congenital bicuspid aortic valve, Streptococcus viridans endocarditis, and pulmonary valve homograft presented with culture-negative endocarditis. Molecular studies identified the causative organism as Bartonella henselae and subsequent serologic studies supported this diagnosis. This rare cause of endocarditis may be under recognized in children. Bartonella henselae endocarditis should be considered in all children with culture-negative endocarditis, and molecular studies using a polymerase chain reaction-based assay should be routinely utilized in the evaluation of all endocarditis cases that are culture negative to rapidly diagnosis this treatable cause of endocarditis.

Soft tissue perineurioma in a patient with neurofibromatosis type 2: a tumor not previously associated with the NF2 syndrome.

Neoplasms that commonly affect patients with neurofibromatosis type 2 (NF2) include schwannomas, meningiomas, astrocytomas, ependymomas, and neurofibromas. Perineuriomas are rare tumors of the peripheral nerve sheath that share some characteristics with meningioma. As in both NF2-associated and sporadic cases of schwannoma and meningioma, perineuriomas often harbor mutations or deletions of the NF2 gene. However, perineuriomas have not previously been reported in the clinical setting of NF2. A 30-year-old man with a history of bilateral vestibular schwannomas, a parasagittal meningioma, an intraspinal ependymoma, and multiple other neoplasms involving both cranial and peripheral nerves (thereby fulfilling the diagnostic criteria for NF2) presented with an enlarging thigh mass. The diagnosis of cellular soft tissue perineurioma was confirmed by both immunohistochemical and ultrastructural analysis. This case represents the first report of a soft tissue perineurioma arising in the setting of NF2.