Carsten Holzmann1, Dirk Koczan2, Thomas Loening3, Birgit Rommel4, Joern Bullerdiek5,4. 1. Institute of Medical Genetics, University Rostock Medical Center, Rostock, Germany. 2. Institute of Immunology, University Rostock Medical Center, Rostock, Germany. 3. Gerhard-Seifert-Referenzzentrum, Hamburg, Germany. 4. Human Genetics, University of Bremen, Bremen, Germany. 5. Institute of Medical Genetics, University Rostock Medical Center, Rostock, Germany joern.bullerdiek@med.uni-rostock.de.
Abstract
BACKGROUND: Uterine leiomyosarcomas are rare tumors with adverse prognosis. Recently, it has been suggested that a possible genetic subgroup of these tumors might be characterized by bi-allelic deletions of the RB1 locus. Here we report another uterine leiomyosarcoma with bi-allelic deletion of RB1 along with other genetic alterations. CASE REPORT: A 52-year-old patient was admitted to the hospital for surgical removal of a polyp-like lesion in the uterine cavity. Histological examination revealed a grade 1 leiomyosarcoma with atypical mitoses and areas corresponding to a leiomyoma with bizarre nuclei. RESULTS AND CONCLUSION: This is the third case of a uterine leiomyosarcoma revealing bi-allelic RB1 deletions. Thus, in the absence of monosomy 14 and/or mutations of MED12, this genetic alteration seems, indeed, to constitute a separate entity of these tumors. Histological analysis of the tumor along with its genetic intratumoral heterogeneity suggests its origin to be from a leiomyoma with bizarre nuclei. Furthermore, of considerable interest in the case presented here, is the identification of a large segment of chromosome 22 showing uniparental disomy. Along with the case presented here, recent data show that a genetic classification of all uterine leiomyosarcomas is recommended to reveal more information about clinical correlations of their different genetic subtypes. Due to array-based methods these analyses can be well-carried out using paraffin-embedded samples. Copyright
BACKGROUND: Uterine leiomyosarcomas are rare tumors with adverse prognosis. Recently, it has been suggested that a possible genetic subgroup of these tumors might be characterized by bi-allelic deletions of the RB1 locus. Here we report another uterine leiomyosarcoma with bi-allelic deletion of RB1 along with other genetic alterations. CASE REPORT: A 52-year-old patient was admitted to the hospital for surgical removal of a polyp-like lesion in the uterine cavity. Histological examination revealed a grade 1 leiomyosarcoma with atypical mitoses and areas corresponding to a leiomyoma with bizarre nuclei. RESULTS AND CONCLUSION: This is the third case of a uterine leiomyosarcoma revealing bi-allelic RB1 deletions. Thus, in the absence of monosomy 14 and/or mutations of MED12, this genetic alteration seems, indeed, to constitute a separate entity of these tumors. Histological analysis of the tumor along with its genetic intratumoral heterogeneity suggests its origin to be from a leiomyoma with bizarre nuclei. Furthermore, of considerable interest in the case presented here, is the identification of a large segment of chromosome 22 showing uniparental disomy. Along with the case presented here, recent data show that a genetic classification of all uterine leiomyosarcomas is recommended to reveal more information about clinical correlations of their different genetic subtypes. Due to array-based methods these analyses can be well-carried out using paraffin-embedded samples. Copyright