Genomic profile analysis of leiomyomas with bizarre nuclei and fumarate hydratase deficient leiomyomas: Strengths, weaknesses, and limitations of array‐CGH interpretation

• Published in: Genes chromosomes & cancer 2024-03, Vol.63 (3), p.e23229-n/a
• Main Authors: Fontanges, Quitterie, Dubos, Paul, Lesluyes, Tom, Laizet, Yec'han, Velasco, Valérie, Meléndez, Bárbara, D'Haene, Nicky, Oliva, Esther, Young, Robert H., Mayeur, Laetitia, Rebier, Flora, Alamé, Mélissa, Larmonier, Claire, Devouassoux‐Shisheboran, Mojgan, Arnould, Laurent, Soubeyran, Isabelle, Chakiba, Camille, Floquet, Anne, Babin, Guillaume, Guyon, Frédéric, Mery, Eliane, Le Guellec, Sophie, Noël, Jean‐Christophe, Croce, Sabrina, Chibon, Frédéric
• Format: Article
• Language: English
• Subjects: CGH array; Female; Fibroids; Fumarase; Fumarate Hydratase - genetics; fumarate hydratase deficient leiomyoma; Genes, p53; Genomic analysis; genomic index; Genomics; Humans; Leiomyoma - genetics; Leiomyoma - pathology; leiomyoma with bizarre nuclei; Malignancy; p53 Protein; Smooth muscle; Tumor suppressor genes; Tumors; Uterine Neoplasms - genetics; Uterine Neoplasms - pathology; uterine smooth muscle tumors
• ISSN: 1045-2257; 1098-2264; 1098-2264
• DOI: 10.1002/gcc.23229

A close relationship has been demonstrated between genomic complexity and clinical outcome in uterine smooth muscle tumors. We studied the genomic profiles by array‐CGH of 28 fumarate hydratase deficient leiomyomas and 37 leiomyomas with bizarre nuclei (LMBN) from 64 patients. Follow‐up was available for 46 patients (from three to 249 months, mean 87.3 months). All patients were alive without evidence of disease. For 51 array‐CGH interpretable tumors the mean Genomic Index (GI) was 16.4 (median: 9.8; from 1 to 57.8), significantly lower than the mean GI in LMS (mean GI 51.8, p