Atypical uterine polyps show morphologic and molecular overlap with mullerian adenosarcoma but follow a benign clinical course

Chapel, David; Howitt, Brooke E.; Sholl, Lynette M.; Cin, Paola Dal; Nucci, Marisa R.

doi:10.1038/s41379-021-00946-z

Cited by 4 publications

(2 citation statements)

References 35 publications

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“…The phenomenon that ~96% of CLM‐S in our series display HMGA2 overexpression by IHC, yet more than half did not contain a detectable abnormality in HMGA2 by FISH, suggests that other mechanisms potentially lead to HMGA2 overexpression in CLM‐S similar to hydropic LM 6 . Based on recent studies on whole genome sequencing, HMGA2 overexpression can be caused by copy number gain or gene amplification in chromosome 12q15 where HMGA2 is located 18,19 . Prior works have demonstrated that down‐regulation of the 3 ' UTR for HMGA2 and disrupting tumour suppression by microRNA let‐7 contributes to oncogenesis 20–22 .…”

Section: Discussionmentioning

confidence: 66%

“…6 Based on recent studies on whole genome sequencing, HMGA2 overexpression can be caused by copy number gain or gene amplification in chromosome 12q15 where HMGA2 is located. 18,19 Prior works have demonstrated that down-regulation of the 3' UTR for HMGA2 and disrupting tumour suppression by microRNA let-7 contributes to oncogenesis. [20][21][22] Ultimately, FISH testing and related data/results may be limited for HMGA2, and interpretations should incorporate variables accordingly.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2022

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Section: Discussionmentioning

confidence: 66%

Section: Discussionmentioning

confidence: 99%

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

et al. 2022

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Benign Cervical Lesions

Griffin,

Chen

2024

Gynecologic and Obstetric Pathology

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Endometrial polyps are non-neoplastic but harbor epithelial mutations in endometrial cancer drivers at low allelic frequencies

Sahoo

Aguilar

et al. 2022

Modern Pathology

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Endometrial polyps (EMPs) are common exophytic masses associated with abnormal uterine bleeding and infertility. Unlike normal endometrium, which is cyclically shed, EMPs persist over ovulatory cycles and after the menopause. Despite their usual classification as benign entities, EMPs are paradoxically associated with endometrial carcinomas of diverse histologic subtypes, which frequently arise within EMPs. The etiology and potential origins of EMPs as clonally-derived neoplasms are uncertain, but previous investigations suggested that EMPs are neoplasms of stromal origin driven by recurring chromosomal rearrangements. To better define benign EMPs at the molecular genetic level, we analyzed individual EMPs from 31 women who underwent hysterectomy for benign indications. The 31 EMPs were subjected to comprehensive genomic profiling by exome sequencing of a large panel of tumor-related genes including oncogenes, tumor suppressors, and chromosomal translocation partners. There were no recurring chromosomal rearrangements, and copy-number analyses did not reveal evidence of significant chromosome-level events. Surprisingly, there was a high incidence of single nucleotide variants corresponding to classic oncogenic drivers (i.e., definitive cancer drivers). The spectrum of known oncogenic driver events matched that of endometrial cancers more closely than any other common cancer. Further analyses including laser-capture microdissection showed that these mutations were present in the epithelial compartment at low allelic frequencies. These results establish a link between EMPs and the acquisition of endometrial cancer driver mutations. Based on these findings, we propose a model where the association between EMPs and endometrial cancer is explained by the age-related accumulation of endometrial cancer drivers in a protected environment that—unlike normal endometrium—is not subject to cyclical shedding.

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Atypical uterine polyps show morphologic and molecular overlap with mullerian adenosarcoma but follow a benign clinical course

Cited by 4 publications

References 35 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

Benign Cervical Lesions

Endometrial polyps are non-neoplastic but harbor epithelial mutations in endometrial cancer drivers at low allelic frequencies

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