Ultrasound-guided fine needle aspiration cytodiagnosis of leiomyosarcoma metastatic to the breast. A case report.

BACKGROUND: Leiomyosarcomas are characterized by slow growth and late metastasis and most often involve the lung, liver and subcutaneous tissue. Metastasis to the breast is rare, with only four cases published in the English-language literature to date. Because of its rarity and the prolonged time interval between the diagnosis of the primary tumor and involvement of distant sites, accurate diagnosis of these tumors can be challenging. Evaluation of the cytomorphologic features of the tumor, ancillary immunocytochemical staining and detailed medical history of the patient are essential to making a correct diagnosis. CASE: A case of leiomyosarcoma metastatic to the breast occurred in a 60-year-old woman whose primary uterine leiomyosarcoma had been resected 10 years before the diagnosis of the metastasis. Fine needle aspiration performed with ultrasound guidance yielded a moderately cellular specimen composed of minimally pleomorphic spindle cells with smooth, blunt-ended nuclei arranged in an interlacing pattern. Immunocytochemical staining for muscle-specific actin confirmed the smooth muscle origin of the neoplasm. CONCLUSION: The results of cytomorphologic analysis and immunocytochemical staining performed after fine needle aspiration and the patient's history of primary uterine leiomyosarcoma allowed us to correctly diagnose metastasis to the breast and avoided inappropriate management of the metastasis as a primary tumor.

Use of FTA gene guard filter paper for the storage and transportation of tumor cells for molecular testing.

CONTEXT: Efficient methods of storing tumor specimens for molecular testing are needed in the modern surgical pathology laboratory. The FTA Gene Guard system is a novel method for the collection and room temperature storage of blood samples for DNA testing. The method uses index card-sized filter papers that provide an ideal medium on which to store tumor specimens for DNA testing. OBJECTIVE: To determine whether FTA filter paper can be used in the surgical pathology laboratory to store tumor cells for DNA testing. DESIGN: Cell suspensions were prepared from 60 surgical specimens, and DNA was extracted either immediately or after storage on FTA paper. The DNA extracted by each method was tested by polymerase chain reaction (PCR) for the beta-globin and interferon gamma genes, and the results were compared. Fifteen lymph node specimens stored on FTA paper were then tested for immunoglobulin heavy chain (IgH) gene rearrangement by PCR, and these results were compared with those obtained for immediately extracted DNA. SETTING: University medical center. RESULTS: The DNA extracted from cells stored on FTA paper performed as well in the PCR as the freshly extracted DNA in nearly all cases (>95%). The results of tests for IgH gene rearrangements showed 100% concordance between the 2 methods of DNA extraction.Conclusion.-Cells from surgical specimens can be stored on FTA paper for extended lengths of time, and DNA can be extracted from these cells for PCR-based testing. FTA filter paper is a reliable medium for the storage and/or transport of tumor cells for PCR-based DNA analysis.

Dispermic chimerism with two abnormal cell lines, 47,XY, +21 and 47,XX, +12.

Chimerism in humans appears to be a rare phenomenon that is usually discovered by accident. Here we describe a stillborn male fetus with multiple congenital anomalies which was found to have two cytogenetically abnormal cell lines, 47,XY, +21 and 47, XX, +12. The difference in sex chromosome constitution between the cell lines indicated that the fetus had dispermic chimerism. To our knowledge, this is the first report of chimerism with two abnormal cell lines.