Molecular analysis of a uterine broad ligament leiomyoma in a patient with CLOVES syndrome

Overgrowth syndromes are characterized by a global or regional excess growth of various tissue types, especially of mesenchymal nature. The CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, S...

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Published inPathology, research and practice Vol. 216; no. 12; p. 153285
Main Authors Karpathiou, Georgia, Chauleur, Celine, Picot, Tiphanie, Peoc’h, Michel
Format Journal Article
LanguageEnglish
Published Elsevier GmbH 01.12.2020
Subjects
Gynecologic pathology
Overgrowth syndrome
PIK3CA
PIK3CA
Overgrowth syndrome
Gynecologic pathology
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Summary:Overgrowth syndromes are characterized by a global or regional excess growth of various tissue types, especially of mesenchymal nature. The CLOVES (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal naevi, Scoliosis/Skeletal and spinal anomalies) syndrome is characterized by an asymmetric growth excess associated with PIK3CA mutations, found in mosaic, affecting the lesional, but not the normal tissues. Herein, we report the case of a patient affected by CLOVES syndrome, harboring a 13 cm leiomyoma of the uterine broad ligament. The leiomyoma tissue was examined by next-generation sequencing showing the absence of related mutations.
ISSN:0344-0338
1618-0631
DOI:10.1016/j.prp.2020.153285