| Written | 2003-07 | Paola Dal Cin |
| Department of Pathology, Brigham, Women's Hospital, 75 Francis Street, Boston, MA 02115, USA |
| Identity |
| ICD-Morpho | 8890/1 Leiomyomatosis, NOS |
| Atlas_Id | 5158 |
| Phylum | Lung, Heart, Skin, Other::Intravenous leiomyomatosis |
| WHO/OMS Classification | Lung, Heart, Skin, Other |
| Clinics and Pathology |
| Etiology | Intravenous leiomyomatosis (IVL) is a rare smooth muscle proliferation of special interest because of its quasi-malignant behavior. |
| Clinics | IVL is a smooth muscle proliferation that arises from the uterus with vermiform extensions in some cases into the inferior vena cava and ultimately into the right heart. |
| Pathology | The neoplastic smooth muscle of intravenous leiomyomatosis resembles that of benign uterine leiomyomata and may include the same histological variants found in the uterus. Furthermore, the neoplastic smooth cells of IVL express estrogen and progesterone receptors and tumor growth appears to respond to hormonal manipulation. |
| Treatment | Although benign, its hemodynamic effects may require invasive extirpation. |
| Cytogenetics |
| Cytogenetics Morphological | There are only two cytogenetic reports in IVL and both exhibited a karyotype with a der(14)t(12;14)(q15;q24) and two normal copies of chromosome 12. Fluorescence in situ hybridization revealed three copies of HMGA2 (a.k.a. HMGIC): two signals were detected on the normal chromosomes 12 at 12q15, as well as another on the der(14) in the breakpoint region, suggesting that the 12q breakpoint occurred 5' (centromeric) to HMGA2, as has been commonly observed and previously described in uterine leiomyoma with a t(12;14). Based on these findings, it has been suggested that the pathogenesis of IVL is more similar to that of typical uterine leiomyoma than it is to leiomyosarcoma. |
| Bibliography |
| Intravenous leiomyomatosis of the uterus. A clinicopathological analysis of 16 cases with unusual histologic features. |
| Clement PB, Young RH, Scully RE |
| The American journal of surgical pathology. 1988 ; 12 (12) : 932-945. |
| PMID 3202247 |
| Intravenous leiomyomatosis is characterized by a der(14)t(12;14)(q15;q24). |
| Dal Cin P, Quade BJ, Neskey DM, Kleinman MS, Weremowicz S, Morton CC |
| Genes, chromosomes & cancer. 2003 ; 36 (2) : 205-206. |
| PMID 12508249 |
| Intravenous leiomyomatosis: molecular and cytogenetic analysis of a case. |
| Quade BJ, Dal Cin P, Neskey DM, Weremowicz S, Morton CC |
| Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2002 ; 15 (3) : 351-356. |
| PMID 11904348 |
| Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15. |
| Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC |
| Cancer research. 2003 ; 63 (6) : 1351-1358. |
| PMID 12649198 |
| Citation |
| This paper should be referenced as such : |
| Dal, Cin P |
| Smooth muscle: Intravenous leiomyomatosis |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(3):210-210. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/IntravLeiomyomID5158.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(12;14)(q15;q24) HMGA2 | |
| External links |
| Mitelman database | t(12;14)(q15;q24) [Fusion] t(12;14)(q15;q24) [Cytogenetics Case] |
| COSMIC | [ ] [ ] |
| Disease database | Smooth muscle: Intravenous leiomyomatosis |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Jul 13 11:02:06 CEST 2020 |
For comments and suggestions or contributions, please contact us