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Malignant Ectomesenchymoma: Genetic Profile Reflects Rhabdomyosarcomatous Differentiation

Floris, Giuseppe MD* †; Debiec-Rychter, Maria MD, PhD; Wozniak, Agnieszka PhD‡ §; Magrini, Elisabetta BSc; Manfioletti, Guidalberto; De Wever, Ivo MD, PhD; Tallini, Giovanni MD; Sciot, Raf MD, PhD*

Diagnostic Molecular Pathology: December 2007 - Volume 16 - Issue 4 - pp 243-248
doi: 10.1097/PDM.0b013e3180645105
Case Report

Malignant ectomesenchymoma (MEM) represents a heterogeneous group of tumors, most likely originating from pluripotent primitive neural crest cells. In this report, we present an 8-month-old infant boy with an MEM on the left scrotum. Retrospective review of the incision biopsy showed the presence of a few ganglion cells in an otherwise classic embryonal rhabdomyosarcoma (RMS), whereas in the resection specimen after chemotherapy the combined RMS and ganglioneuroma components were very obvious. Cytogenetic analysis of the residual lesion showed an abnormal karyotype, 49, XY, +2, –6, +11, +20, +mar, with a hyperploidy in a subset of cells. By fluorescence in situ hybridization analysis, the marker chromosome was identified as originating from chromosome 6, and the tumor cells were negative for PAX3/PAX7 disrupting translocations specific for alveolar RMS. Gains of chromosomes 2, 11, and 20, found in the current case, are a common finding in embryonal RMS. These gains probably reflect the myogenic differentiation of MEM and support the genetic link between these 2 neoplasms. In addition to the conventional cytogenetics, array comparative genomic hybridization analysis was performed on the primary and residual tumors. The genomic profiles of both specimens were basically the same including the presence of 2 distinctive chromosome 6p21.32-p21.2 and 6p11.2 amplification regions in the primary tumor, which vanished in the postchemotherapy specimen. The pretreatment biopsy exhibited strong expression of HMGA1 and HMGA2 proteins in immunohistochemistry, with the shift toward the loss of expression of both genes in the posttreatment tumoral tissue. This finding supports the oncogenic properties of the HMGA family of proteins and their role in the process of malignant transformation.

*Laboratory for Morphology and Molecular Pathology

Departments of Human Genetics

Oncologic Surgery, University of Leuven, Belgium

Department of Pathology, Ospedale Bellaria, Bologna University School of Medicine

Department of Pathology, University of Cagliari

Department of Biochemistry, Biophysics and Macromolecular Chemistry, University of Trieste, Italy

§Department of Biology and Genetics, Medical University of Gdansk, Poland

This text presents research results of the Belgian program on Interuniversity Pole of Attraction initiated by the Belgian state, Prime minister's office, Science policy programming. Its authors assume scientific responsibility.

Reprints: Raf Sciot, MD, PhD, Department of Pathology, University Hospital St. Rafaël, Minderbroedersstraat 12, B-3000 Leuven, Belgium (e-mail:

© 2007 by Lippincott Williams & Wilkins.