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Intravenous leiomyomatosis with der(14)t(12;14)(q14;q24) HMGA2::

Written2003-07Paola Dal Cin
Department of Pathology, Brigham, Women's Hospital, 75 Francis Street, Boston, MA 02115, USA

(Note : for Links provided by Atlas : click)


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.


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.


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


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 :

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;14)(q15;q24) HMGA2

External links

Mitelman database t(12;14)(q15;q24) [CaseList]     t(12;14)(q15;q24) [Transloc - MCList]   HMGA2 Fusion - MCList]
COSMIC[ ]   [ ]
arrayMap arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Disease databaseIntravenous leiomyomatosis with der(14)t(12;14)(q14;q24) HMGA2::
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

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