Lack of mutation of DICER1 and FOXL2 genes in microcystic stromal tumor of the ovary.
Microcystic stromal tumors (MCST), first described in 2009 by Irving et al., are rare ovarian neoplasms. The entity was introduced into the 2014 WHO classification of tumors of female reproductive organs in the group of sex cord-stromal tumors, which is rather heterogeneous. We studied three cases of ovarian tumor with the characteristic morphological features and immunohistochemical marker profiles of MCST. The three tumors showed micro, and macrocystic patterns with solid areas, and were composed of small round to spindle-shaped cells, without atypia. The tumors diffusely and strongly expressed CD10, FOXL2, and nuclear β-catenin, but without immmunoreactivity for hormone receptors, calretinin, or inhibin. Genome analyses showed no somatic mutation of exon 1 of the FOXL2 gene and of exons 24 and 25 of DICER1 gene, the latter not having been reported previously. The patients are well, without evidence of tumor progression 1 to 10 years after diagnosis.The absence of FOXL2 and DICER1 gene mutation, along with strong FOXL2 immunoreactivity provides additional evidence to place MCST within pure gonadal stromal rather than sex cord ovarian tumors.
Department of Pathology, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Université Lyon I, 165 Chemin du Grand Revoyet, 69310, Pierre-Bénite, France.
Alexandra
A
Meurgey
Department of Molecular Biology, Hospices Civils de Lyon, Centre hospitalier Lyon Sud, 165 Chemin du Grand Revoyet, 69310, Pierre-Bénite, France.
Françoise
F
Descotes
Departement of Pathology, Institut Universitaire du Cancer Toulouse, Oncopole 1 Avenue Irène Jolliot-Curie Cedex 9, 31059, Toulouse, France.
Eliane
E
Mery-Lamarche
Department of Pathology, Hospices Civils de Lyon, Centre Hospitalier Lyon Sud, Université Lyon I, 165 Chemin du Grand Revoyet, 69310, Pierre-Bénite, France. mojgan.devouassoux@chu-lyon.fr.
Mojgan
M
Devouassoux-Shisheboran
D014408:Biomarkers, Tumor / Q000235:genetics* / Q000378:metabolism; D053487:DEAD-box RNA Helicases / Q000235:genetics* / Q000378:metabolism; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D043244:Ribonuclease III / Q000235:genetics* / Q000378:metabolism; D018312:Sex Cord-Gonadal Stromal Tumors / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D014408:Biomarkers, Tumor; C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors; C408087:DICER1 protein, human; D043244:Ribonuclease III; D053487:DEAD-box RNA Helicases
DICER1; FOXL2; Microcystic stromal tumor; Ovary; Sex-cord stromal tumors