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.

Treatment of hemophagocytic lymphohistiocytosis with alemtuzumab in systemic lupus erythematosus.

Hemophagocytic lymphohistiocytosis (HLH) is an immune disorder characterized by cytokine dysregulation and uncontrolled activation of T lymphocytes and macrophages. It is categorized as primary when associated with specific genetic mutations or secondary when associated with infections, malignancies, or autoimmune disorders. Clinical features of HLH include unexplained fever, hepatosplenomegaly, pancytopenia, and severe hyperferritinemia. Treatment of primary HLH has become standardized based on the HLH-2004 protocol using cyclosporine, etoposide, and dexamethasone with or without intrathecal methotrexate followed by hematopoietic stem cell transplantation. Treatment of secondary HLH is directed at control of the underlying condition. If unsuccessful, cytotoxic agents such as those in HLH-2004, steroids, intravenous γ-globulin, or targeted immune therapy have been used. Immunotherapy targeting CD52 expressed on immune effector cells of HLH is a rational therapeutic approach in patients too ill for traditional cytotoxic chemotherapy. We describe the successful use of alemtuzumab to treat HLH due to systemic lupus erythematosus.

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.

Selective use of intraoperative touch prep analysis of sentinel nodes in breast cancer.

Imprint cytology (touch prep) is often used for intraoperative examination of sentinel nodes in breast cancer. This allows axillary lymph node dissection (ALND) to be performed immediately for tumor-positive nodes. We evaluated the accuracy of touch prep examination of sentinel nodes and its role in the surgical treatment of breast cancer. We analyzed 169 breast cancer patients who underwent 170 lymphatic mapping procedures with intraoperative touch prep examination. Results from the touch prep were correlated with histopathology and clinical variables. There were 115 true-negative, 35 true-positive, 15 false-negative, and 5 false-positive results. Touch prep had a sensitivity of 70 per cent and specificity of 96 per cent. Positive predictive value, negative predictive value, and diagnostic accuracy were all 88 per cent. The false-negative rate was 30 per cent and correlated with the size of the nodal metastasis and number of involved nodes, but not other patient factors. Touch prep is useful for the evaluation of sentinel nodes in breast cancer, but it has a lower sensitivity than initially reported, particularly in patients with micrometastases. False positive results occur, although they may be reduced after experience with the technique. We recommend that suspicious findings on touch prep should be confirmed by frozen section and that ALND only be performed for histologically documented metastases. We currently perform touch prep only in patients who are at high risk of nodal metastasis or will undergo mastectomy. This improves operative efficiency and limits the impact of false positive and negative results without dramatically increasing the number of patients who require a second surgical procedure.