Molecular prognostication of uterine smooth muscle neoplasms: From<scp>CGH</scp>array to<scp>CINSARC</scp>signature and beyond

Croce, Sabrina; Chibon, Fréderic

doi:10.1002/gcc.22906

Cited by 18 publications

(14 citation statements)

References 67 publications

(81 reference statements)

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“…In leiomyosarcomas, genetic mutation burden exhibited higher copy number variations, single nucleotide variants, small insertions/deletions, and gene fusions compared with uterine fibroids. Comparative genomic hybridization (CGH) array analysis reveals a chromosomal and genomic complexity starting from uterine fibroids, with few chromosomal alterations, to uterine leiomyosarcoma, which harbors many intrachromosomal damages, and chromothripsis as evidence of their genomic complexity ( 116 , 424 , 425 ). In addition, a differential transcriptomic profile was observed for uterine leiomyosarcomas ( 423 ).…”

Section: Future Perspectivesmentioning

confidence: 99%

Comprehensive Review of Uterine Fibroids: Developmental Origin, Pathogenesis, and Treatment

et al. 2021

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Uterine fibroids are benign monoclonal neoplasms of the myometrium, representing the most common tumors in women worldwide. To date, no long-term or non-invasive treatment option exists for hormone-dependent uterine fibroids due to the limited knowledge about the molecular mechanisms underlying the initiation and development of uterine fibroids. This paper comprehensively summarizes the recent research advances on uterine fibroids, focusing on their risk factors, development origin, pathogenetic mechanisms, and treatment options. Additionally, we describe the current treatment interventions for uterine fibroids. Finally, future perspectives on uterine fibroids studies are summarized. Deeper mechanistic insights into tumor etiology and uterine fibroids’ complexity can contribute to the newer targeted therapies.

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Section: Future Perspectivesmentioning

confidence: 99%

Comprehensive Review of Uterine Fibroids: Developmental Origin, Pathogenesis, and Treatment

et al. 2021

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“…In addition to immunochemistry, more sophisticated methods can be applied. In uterine tumors with uncertain malignant potential, the assessment of genomic index by comparative genomic hybridization array, that is, counting the genomic complexity of a tumor, allows leiomyosarcomas to be distinguished from benign tumors such as leiomyomas [ 38 ].…”

Section: Discussionmentioning

confidence: 99%

Ultrasound-Guided Trans-Uterine Cavity Core Needle Biopsy of Uterine Myometrial Tumors to Differentiate Sarcoma from a Benign Lesion—Description of the Method and Review of the Literature

et al. 2022

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Uterine sarcomas are rare, aggressive tumors with poor prognosis that can be further negatively affected by inadequate surgical approaches such as morcellation. There are no clinical and radiologic criteria for differentiating leiomyoma from malignant uterine tumors. However, some ultrasonography and magnetic resonance imaging findings may be informative. We present a technique of ultrasound-guided trans-uterine cavity (UG-TUC) core needle biopsy for uterine lesions. As the procedure is an in-organ biopsy, there is no risk of needle canal contamination. The technique also enables the biopsy of lesions inaccessible by the transvaginal tru-cut biopsy. The core needle of the automatic biopsy system is inserted via the cervical canal into the uterine cavity and is directed and activated at the myometrial lesion under ultrasound control. The standard local treatment of localized uterine sarcomas is en bloc total hysterectomy; for fibroids, there are multiple options including conservative management or tumorectomy and tumor morcellation using minimally invasive techniques. Fragmentation of the sarcoma significantly worsens oncologic outcomes and should therefore be avoided. The UG-TUC core needle biopsy of uterine lesions can complement imaging to obtain sufficient material for histologic and molecular analyses of suspected or undetermined lesions, thus facilitating treatment planning and decreasing the risk of unsuspected sarcomas.

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“…A number of studies demonstrated features of UL karyotype evolution [ 37 , 40 , 45 , 66 , 67 , 68 , 69 ]. However, benign UL is more cytogenetically stable compared to its malignant counterpart—leiomyosarcoma [ 41 , 70 , 71 , 72 , 73 , 74 , 75 ].…”

Section: Discussionmentioning

confidence: 99%

Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison

et al. 2021

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We performed a comparative cytogenomic analysis of cultured and uncultured uterine leiomyoma (UL) samples. The experimental approach included karyotyping, aCGH, verification of the detected chromosomal abnormalities by metaphase and interphase FISH, MED12 mutation analysis and telomere measurement by Q-FISH. An abnormal karyotype was detected in 12 out of 32 cultured UL samples. In five karyotypically abnormal ULs, MED12 mutations were found. The chromosomal abnormalities in ULs were present mostly by complex rearrangements, including chromothripsis. In both karyotypically normal and abnormal ULs, telomeres were ~40% shorter than in the corresponding myometrium, being possibly prerequisite to chromosomal rearrangements. The uncultured samples of six karyotypically abnormal ULs were checked for the detected chromosomal abnormalities through interphase FISH with individually designed DNA probe sets. All chromosomal abnormalities detected in cultured ULs were found in corresponding uncultured samples. In all tumors, clonal spectra were present by the karyotypically abnormal cell clone/clones which coexisted with karyotypically normal ones, suggesting that chromosomal abnormalities acted as drivers, rather than triggers, of the neoplastic process. In vitro propagation did not cause any changes in the spectrum of the cell clones, but altered their ratio compared to uncultured sample. The alterations were unique for every UL. Compared to its uncultured counterpart, the frequency of chromosomally abnormal cells in the cultured sample was higher in some ULs and lower in others. To summarize, ULs are characterized by both inter- and intratumor genetic heterogeneity. Regardless of its MED12 status, a tumor may be comprised of clones with and without chromosomal abnormalities. In contrast to the clonal spectrum, which is unique and constant for each UL, the clonal frequency demonstrates up or down shifts under in vitro conditions, most probably determined by the unequal ability of cells with different genetic aberrations to exist outside the body.

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Molecular prognostication of uterine smooth muscle neoplasms: FromCGHarray toCINSARCsignature and beyond

Cited by 18 publications

References 67 publications

Comprehensive Review of Uterine Fibroids: Developmental Origin, Pathogenesis, and Treatment

Comprehensive Review of Uterine Fibroids: Developmental Origin, Pathogenesis, and Treatment

Ultrasound-Guided Trans-Uterine Cavity Core Needle Biopsy of Uterine Myometrial Tumors to Differentiate Sarcoma from a Benign Lesion—Description of the Method and Review of the Literature

Cytogenomic Profile of Uterine Leiomyoma: In Vivo vs. In Vitro Comparison

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