Abstract
BackgroundCellular angiofibroma is a rare benign mesenchymal neoplasm with morphological and immunohistochemical similarities to spindle cell lipoma. Karyotypic information on cellular angiofibroma is restricted to one case only which showed loss of material from chromosomes 13 and 16. A few other studies using fluorescence in situ hybridization showed deletions of the RB1 and FOXO1 loci, both of which are located in chromosome band 13q14. We present here cytogenetic data on two cellular angiofibromas with an abnormal karyotype.MethodsG-banding and fluorescence in situ hybridization (FISH) analyses were done on two cellular angiofibromas.ResultsIn both tumors, a rearrangement leading to loss of chromosome 13 material was seen, together with other structural chromosome abnormalities. FISH analysis showed heterozygous deletion of the RB1 locus (13q14) in both cases.ConclusionOur results demonstrate loss of chromosome 13 material in cellular angiofibroma, though not as the sole cytogenetic change, confirming the (cyto)genetic similarity of these tumors with spindle cell lipomas.
Highlights
Cellular angiofibroma is a rare benign mesenchymal neoplasm with morphological and immunohistochemical similarities to spindle cell lipoma
Cytogenetic information about cellular angifibroma is restricted to one case only [9] which by G-banding and fluorescence in situ hybridization (FISH) analyses was found to have the karyotype 45,XY,add(2)(q33),add(12) (p11.2),13[3]/44,idem,16[2].ish add(2)(wcp13-),add(12),der(16)(wcp13+)[3]
Our results show consistent involvement of chromosome 13 in these tumors with loss of 13q, underscoring the suggestedgenetic similarity between cellular angiofibroma and spindle cell lipomas
Summary
Cellular angiofibroma is a rare benign mesenchymal neoplasm with morphological and immunohistochemical similarities to spindle cell lipoma. A few other studies using fluorescence in situ hybridization showed deletions of the RB1 and FOXO1 loci, both of which are located in chromosome band 13q14. Cellular angiofibroma is a rare benign mesenchymal neoplasm, first described by Nucci et al in 1997 in a series of 6 cases that occurred almost exclusively in the vulva of middle-aged women [1]. Cytogenetic information about cellular angifibroma is restricted to one case only [9] which by G-banding and fluorescence in situ hybridization (FISH) analyses was found to have the karyotype 45,XY,add(2)(q33),add(12) (p11.2),-13[3]/44,idem,-16[2].ish add(2)(wcp13-),add(12) (wcp13+,LSI 13q14-,LSI 13q34+),der(16)(wcp13+)[3]. Deletions of the RB1 and FOXO1 loci, located in chromosome band 13q14, were found by interphase FISH [7, 10,11,12]
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