Malignant transformation of uterine leiomyoma to myxoid leiomyosarcoma after morcellation associated with  ALK  rearrangement and loss of 14q

Carsten Holzmann; Christian Saager; Gunhild Mechtersheimer; Dirk Koczan; Burkhard M. Helmke; Jörn Bullerdiek

doi:10.18632/oncotarget.25137

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Research Papers:

Malignant transformation of uterine leiomyoma to myxoid leiomyosarcoma after morcellation associated with ALK rearrangement and loss of 14q

Carsten Holzmann, Christian Saager, Gunhild Mechtersheimer, Dirk Koczan, Burkhard M. Helmke and Jörn Bullerdiek _

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Oncotarget. 2018; 9:27595-27604. https://doi.org/10.18632/oncotarget.25137

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Abstract

Carsten Holzmann1, Christian Saager2, Gunhild Mechtersheimer3, Dirk Koczan4, Burkhard M. Helmke5,* and Jörn Bullerdiek1,6,*

1Institute of Medical Genetics, University Rostock Medical Center, Rostock D-18057, Germany

2Clinic Dr. Hancken, Stade D-21680, Germany

3Department of General Pathology, Institute of Pathology, University Hospital Heidelberg, Heidelberg D-69120, Germany

4Institute of Immunology, University Rostock Medical Center, Rostock D-18057, Germany

5Institute of Pathology, Elbe Clinics, Stade D-21682, Germany

6Human Genetics, University of Bremen, Bremen D-28359, Germany

*These authors contributed equally to this work

Correspondence to:

Jörn Bullerdiek, email: [email protected]

Keywords: uterine leiomyoma; uterine leiomyosarcoma; morcellation; parasitic leiomyoma; genetic alterations

Received: October 14, 2017 Accepted: March 19, 2018 Published: June 12, 2018

ABSTRACT

A 50 year old woman underwent laparoscopic supracervical hysterectomy because of symptomatic fibroids. Histologic examination of samples obtained after morcellation revealed typical uterine leiomyomas in all samples investigated. 28 and 47 months later, respectively, the patient presented with peritoneal spreading of nodules that were surgically removed and histologically classified as leiomyosarcoma. In 3/4 of samples obtained after morcellation copy number/SNP-array hybridization showed complex genomic alterations widely identical to the pattern characterizing the sarcoma. Therefore, we conclude that the leiomyosarcoma had unambiguously developed from one of the leiomyomas as a result of secondary genetic alterations i.e. a rearrangement of ALK and a del(14q). The case is challenging the current risk estimates for spreading of unexpected malignant uterine tumors due to power morcellation and highlights the relevance of certain genetic alterations for rare malignant transformation of uterine benign smooth muscle tumors.

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Research Papers:

Malignant transformation of uterine leiomyoma to myxoid leiomyosarcoma after morcellation associated with ALK rearrangement and loss of 14q

Abstract