Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases

Dundr, Pavel; Gregová, Mária; Hojný, J.; Krkavcová, Eva; Michálková, Romana; Němejcová, Kristýna; Bártů, Michaela; Hájková, Nikola; Laco, Ján; Mára, Michal; Richtárová, Adéla; Zima, Tomáš; Stružinská, Ivana

doi:10.1007/s00428-021-03217-z

Cited by 14 publications

(14 citation statements)

References 59 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…An investigation of 52 CLM found ~37% of tumours to display HMGA2 overexpression by IHC, confirmed by increased mRNA expression in all cases 12 . One pictured tumour included in this study shows morphological features characteristic of CLM‐S 12 . Other previous studies demonstrated that CLM may have specific cytogenic alterations 13 different from usual‐type LM and are less likely to show MED12 mutations 17 .…”

Section: Discussionsupporting

confidence: 75%

“…However, histological details beyond degree of cellularity are not provided for these tumours 16 . An investigation of 52 CLM found ~37% of tumours to display HMGA2 overexpression by IHC, confirmed by increased mRNA expression in all cases 12 . One pictured tumour included in this study shows morphological features characteristic of CLM‐S 12 .…”

Section: Discussionmentioning

confidence: 84%

“…Tumour cells show small, uniform nuclei without nuclear atypia and only few mitoses. 1 While CLM-S and CLM have similar tumour cytology, CLM lacks the characteristic background extracellular matrix and variable architectural patterns seen in CLM-S. Nuclear palisading reminiscent of peripheral nerve sheath tumour Verocay bodies 12 and thick-walled vessels 9 found in CLM are also common in CLM-S. In contrast, tumour outgrowths termed 'seedling leiomyomas' in CLM 9 were not observed in CLM-S.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Histological and molecular analysis of cellular leiomyoma with sclerosis: linked to HMGA2 overexpression

et al. 2022

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 75%

Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Histological and molecular analysis of cellular leiomyoma with sclerosis: linked to HMGA2 overexpression

et al. 2022

View full text Add to dashboard Cite

show abstract

“…Whether this fusion regulates the expression of CSF1 is still unknown and the underlying molecular mechanisms remain elusive. Fusion genes involving HMGA2 have also been detected in various tumor types such as lipomas leiomyomas, pleomorphic adenomas of the salivary gland, cervical polyps and hemangiopericytomas ( 17 ). This HMGA2::NCOR2 fusion has recently been described in a series of 6 “giant cell tumors of soft tissue” ( 18 ) and in a series of 6 “osteoclastic giant cell-rich tumors of bone” ( 19 ).…”

Section: Discussionmentioning

confidence: 99%

Expanding the molecular spectrum of tenosynovial giant cell tumors

et al. 2022

View full text Add to dashboard Cite

BackgroundWhile great advances in clinical and pathological description of tenosynovial giant cell tumors (TGCT) have been made, TGCT molecular heterogeneity represents an ongoing challenge. The canonical oncogenic fusion CSF1::COL6A3 is not systematically observed, suggesting that other oncogenic mechanisms are involved in tumorigenesis. This study aims to explore by RNA sequencing a retrospective series of tumors diagnosed as TGCT, in order to provide a better description of their molecular landscape and to correlate molecular features with clinical data.MethodsWe analyzed clinicopathological data and performed whole-exome RNA sequencing on 41 TGCT samples.ResultsRNAseq analysis showed significant higher CSF1 and CSF1-R expression than a control panel of 2642 solid tumors. RNA sequencing revealed fusion transcripts in 14 patients including 6 not involving CSF1 and some previously unreported fusions. Unsupervised clustering on the expression profiles issued from this series suggested two distinct subgroups: one composed of various molecular subtypes including CSF1 and FN1 rearranged samples and one composed of four tumors harboring an HMGA2::NCOR2 fusion, suggesting distinct tumor entities. Overall, 15 patients received at least one systemic anti-CSF1R treatment and clinical improvement was observed in 11 patients, including patients from both clusters.DiscussionThis study reported molecular heterogeneity in TGCT, contrasting with the clinical and pathological homogeneity and the ubiquitous high CSF1 and CSF1R expression levels. Whether molecular diversity may impact the efficacy of systemic treatments needs to be further investigated.

show abstract

“…Cellular leiomyoma (CL) is a rare variant of uterine leiomyoma, which is difficult to detect clinically or even with imaging. However, immunohistochemical and molecular changes have been proved present during this variation [ 7 ]. Dundr et al found immunohistochemical results of cellular leiomyomas with high expression of smooth muscle markers (calponin, desmin, smooth muscle actin, caldesmon, transgelin, smooth muscle myosin heavy chain, and smoothelin) commonly associated with co-expression of endometrial stromal markers like interferon-induced transmembrane protein 1 (IFITM1) and cluster of differentiation (CD)10 [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Highly Cellular Leiomyoma Mixed With a Focus of Adenomyosis

Nava¹

2022

Cureus

View full text Add to dashboard Cite

The purpose of this case presentation was to highlight the importance of an adequate evaluation of images when suspicious of atypical leiomyoma and the importance of performing an extemporaneous biopsy during surgery to ensure the lesion is a benign muscular cell tumor. Here, we present a case of a 34-year-old nulliparous woman who presented with a history of infertility and irregular menstrual cycles. A highly vascularized pelvic mass was visualized by Doppler ultrasound and a contrast MRI suggestive of uterine fibroid. Intraoperatively, the lesion was found adjacent to the uterus, with a second lesion deeper into the myometrium. The pathology reported a highly cellular leiomyoma with a focus of adenomyosis. Both lesions were extirpated without complications. The patient recuperated favorably within three months of follow-up. This case shows an example of a variety of the typical histology that can be found in uterine fibroids. Although the management of atypical leiomyomas could vary in different scenarios, conservative treatment is recommended if fertility wishes are present. In all cases, it is mandatory to exclude any possibilities of malignancy, like sarcoma, which would completely change the intraoperative management.

show abstract

Uterine cellular leiomyomas are characterized by common HMGA2 aberrations, followed by chromosome 1p deletion and MED12 mutation: morphological, molecular, and immunohistochemical study of 52 cases

Cited by 14 publications

References 59 publications

Histological and molecular analysis of cellular leiomyoma with sclerosis: linked to HMGA2 overexpression

Histological and molecular analysis of cellular leiomyoma with sclerosis: linked to HMGA2 overexpression

Expanding the molecular spectrum of tenosynovial giant cell tumors

Highly Cellular Leiomyoma Mixed With a Focus of Adenomyosis

Contact Info

Product

Resources

About