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- Dahlén, Anna, et al.
(författare)
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Clustering of deletions on chromosome 13 in benign and low-malignant lipomatous tumors
- 2003
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136. ; 103:5, s. 616-623
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Tidskriftsartikel (refereegranskat)abstract
- Deletions and structural rearrangements of the long arm of chromosome 13 are frequently observed in benign and low-malignant lipomatous tumors, but nothing is known about their molecular genetic consequences. We assessed the karyotypes of 40 new and 22 previously published cases (35 ordinary lipomas, 15 spindle cell/pleomorphic lipomas, 2 myxolipomas, 1 angiomyxolipoma and 9 atypical lipomatous tumors) with chromosome 13-abnormalities, and found bands 13q12-22 to be frequently affected. Twenty-seven cases with structural abnormalities within this region were selected for breakpoint and deletion mapping by metaphase fluorescence in situ hybridization (FISH), using a set of 20 probes. Deletions were found in 23 of 27 cases. The remaining 4 cases had seemingly balanced rearrangements. The breakpoints were scattered but clustered to band 13q14, and in all cases with unbalanced abnormalities, a limited region within band 13q14 was partially or completely deleted. A deletion within band 13q14 was found together with a breakpoint on the other homologue in 5 cases, 4 of which could be tested further with regard to the status of the retinoblastoma (RB1)-gene. In all 4 cases, only 1 copy of the gene was deleted. In addition to the breaks and deletions in the vicinity of the RB1-locus, several other regions of 13q were recurrently affected, e.g., in the vicinity of the hereditary breast cancer (BRCA2; 13q12)- and lipoma HMGIC fusion partner (LHFP; 13q13)- genes. Our findings strongly indicate that deletion of a limited region (approximately 2.5 Mbp) within 13q14, distal to the RB1-locus, is of importance in the development of a subset of lipomatous tumors.
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- Domanski, Henryk
(författare)
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Cytologic features of angioleiomyoma: Cytologic-histologic study of 10 cases.
- 2002
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Ingår i: Diagnostic Cytopathology. - : Wiley. - 8755-1039 .- 1097-0339. ; 27:3, s. 161-166
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Tidskriftsartikel (refereegranskat)abstract
- Fine-needle aspiration (FNA) features in 10 angioleiomyomas (ALM) were evaluated and correlated to histological features and clinical data. The tumors developed in the skin or subcutaneous tissue of the lower extremities (eight), the shoulder (one), and the lower arm (one). Eight tumors were painful or tender. Cytological specimens showed moderate or sparse cellularity. The most frequent findings were uniform spindle cells, seen in nine smears. In eight of these, the spindle cells were admixed with smooth muscle cells and fragments of collagenous tissue in varying proportions. The occurrence of macrophages and fat cells was less specific, being present in three of nine smears. One aspirate contained some "ganglion-like" cells and a multinucleated giant cell. Smears from ALM are not sufficiently characteristic to permit a histotype diagnosis, but together with typical clinical data (painful or tender nodule) may help to exclude other skin or subcutaneous lesions. Diagn. Cytopathol. 2002;27:161-166.
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- Domanski, Henryk, et al.
(författare)
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Cytologic features of primary, recurrent, and metastatic dermatofibrosarcoma protuberans
- 2002
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Ingår i: Cancer. - : Wiley. - 1097-0142 .- 0008-543X. ; 96:6, s. 351-361
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is a low-grade spindle cell neoplasm involving both dermis and subcutis. Its diagnosis may be difficult to render from cytologic smears, as it shares some features with other spindle cell lesions occurring in the skin and soft tissue.METHODS: Fourteen aspiration smears from 12 patients with primary, recurrent, or metastatic DFSP, examined by fine-needle aspiration biopsy (FNAB), were reviewed and compared with corresponding surgical specimens (13 aspirates) and clinical data (one aspirate). The cytologic features of DFSP were evaluated. Other spindle cell lesions in the differential diagnoses were discussed.RESULTS: Unequivocal spindle cell sarcoma diagnoses were rendered in nine aspirates, six of which were labeled correctly as DFSP in the original reports. In three aspirates, the preoperative diagnoses were inconclusive with regard to whether the tumors were benign or malignant. Two aspirates were diagnosed erroneously as benign spindle cell lesions. Cytologic features included tight clusters of bland spindle cells embedded in a collagenous/fibrillar and, often, metachromatic matrix along with dissociated, uniform, or slightly atypical spindle cells or bare nuclei. Tissue fragments showing a storiform pattern and entrapped fat tissue, reported in previous series, were less characteristic, presenting in nine and seven aspirates, respectively.CONCLUSIONS: Correct subtyping of DFSP in fine-needle aspiration smears can be difficult, due to its morphologic overlapping with other spindle cell lesions. A combination of cytology with ancillary studies and appropriate clinical information is crucial to establishing a correct diagnosis.
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- Domanski, Henryk, et al.
(författare)
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Distinct cytologic features of spindle cell lipoma - A cytologic-histologic study with clinical, radiologic, electron microscopic, and cytogenetic correlations
- 2001
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Ingår i: Cancer. - : Wiley. - 1097-0142 .- 0008-543X. ; 93:6, s. 381-389
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND. Spindle cell lipoma (SCL) is a relatively uncommon, benign tumor that usually presents in the subcutaneous fat of adult men. Although some studies have addressed the histologic findings of SCL, only a few descriptions of aspiration cytology findings have been published. The cytologic features are poorly defined, and aspirates from SCL may cause diagnostic problems, because SCL shares some features with other fatty/spindle cell or myxoid lesions, benign as well as malignant. METHODS. Twelve patients underwent fine-needle aspiration (FNA) cytology as the primary diagnostic modality before surgery. FNA findings were evaluated and correlated with histologic features, In addition, radiologic, electron microscopic, and cytogenetic findings were analyzed. The objective of this study was to determine cytologic criteria of SCL by reviewing cytologic specimens in 12 patients with SCL who underwent FNA cytology. RESULTS. All of the motors arose in adults, and to tumors developed in the subcutaneous tissue of the neck, back, or shoulder girdle. Two patients presented with tumors in atypical locations; one in the tongue and one in the check. Cytologically, all 12 tumors were characterized by a mixture of mature adipocytes, uniform spindle cells, and collagen bundles and/or fibers in varying proportions. The presence of a myxoid matrix and of mast cells was less specific and occurred in six aspirates. CONCLUSIONS. SCL has a characteristic cytologic appearance that, together with clinical data, helps to exclude low-grade liposarcoma as well as other spindle cell and myxoid lesions.
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