2018
DOI: 10.1097/pgp.0000000000000447
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Fumarate Hydratase Mutations and Alterations in Leiomyoma With Bizarre Nuclei

Abstract: Leiomyoma with bizarre nuclei (LM-BN), is a variant of uterine smooth muscle tumor with atypical histologic features. Although some LM-BN share several significant genetic alterations with leiomyosarcoma, including p16 and p53, the underlying tumorigenesis of LM-BN remains largely unknown. As we previously reported, LM-BN can be divided into 2 subtypes, type I and type II, based on different nuclear features. Type I LM-BN have similar histologic features as uterine smooth muscle tumors with fumarate hydratase … Show more

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Cited by 23 publications
(27 citation statements)
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“…Fresh frozen and/or formalin‐fixed and paraffin‐embedded tumor, and myometrial tissues were used. The genotypes of the selected ULM with MED12 mutations, HMGA2 overexpression and biallelic FH inactivation have been reported in previous studies …”
Section: Methodsmentioning
confidence: 86%
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“…Fresh frozen and/or formalin‐fixed and paraffin‐embedded tumor, and myometrial tissues were used. The genotypes of the selected ULM with MED12 mutations, HMGA2 overexpression and biallelic FH inactivation have been reported in previous studies …”
Section: Methodsmentioning
confidence: 86%
“…After genotype was determined by gene mutation analysis ( MED12 exon 2) and immunohistochemistry ( HMGA2 overexpression and loss of FH ), the cases from each of three gene mutations were selected for this study including 25 ULM with MED12 mutations, and 15 ULM with HMGA2 overexpression. We also selected 27 ULM with loss of FH expression in our collection of leiomyoma with bizarre nuclei . Histologically, MED12 ULM showed varied cellularity of smooth muscle cells with prominent extracellular matrix and low vasculature (Figure ; H/E).…”
Section: Resultsmentioning
confidence: 99%
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“…Variable stromal edema has been described, as has schwannoma‐like nuclear palisading . In particular, it seems that a significant subset of atypical or bizarre leiomyomas show FH deficiency …”
Section: Fh‐deficient Rcc − From Metabolomic Derangement To Aggressivmentioning
confidence: 99%
“…50,51 In particular, it seems that a significant subset of atypical or bizarre leiomyomas show FH deficiency. 52,53 One of the challenges of dealing with this syndrome, from the surgical pathologist's standpoint, is that tumors with morphologic and cytologic features very suggestive of the syndrome seem to come to sign-out without available documentation of any personal or family history of the syndrome or any data regarding presence or absence of its stigmata. [54][55][56] This is important, because the pathologist's role for recognition, triage, and referral for definitive genetic testing of hereditary RCC is essential and growing, 57 and has been supported by data showing strong association between histologic findings and positive testing.…”
Section: Fh-deficient Rcc à From Metabolomic Derangement To Aggressivmentioning
confidence: 99%