2018
DOI: 10.1007/s00428-018-2292-6
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Fumarate hydratase (FH) deficiency in uterine leiomyomas: recognition by histological features versus blind immunoscreening

Abstract: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome is a rare autosomal dominant disease caused by germline mutations in the fumarate hydratase (FH) gene. Affected individuals develop cutaneous and uterine leiomyomas and aggressive RCC. To date, only few publications described the frequency and morphology of FH-deficient uterine leiomyomas. We reviewed 22 cases collected over 8 years from routine and consultation files based on distinctive histological features. In addition, we screened 580 con… Show more

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Cited by 47 publications
(70 citation statements)
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References 30 publications
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“…The COL4A5/COL4A6 deletion positive UL subtype constitutes about 2% (12). We and other estimated that FH deficient UL subtype makes up 0.4% to 1.6% of all ULs (13,14).…”
Section: Introductionmentioning
confidence: 88%
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“…The COL4A5/COL4A6 deletion positive UL subtype constitutes about 2% (12). We and other estimated that FH deficient UL subtype makes up 0.4% to 1.6% of all ULs (13,14).…”
Section: Introductionmentioning
confidence: 88%
“…We included 13 FH deficient ULs with sufficient high-quality DNA from a previously described cohort of 22 prospectively diagnosed tumors collected from routine surgical pathology (n = 10) or consultation files (n = 3) of one of the authors (A.A.) (13). The histopathological characteristics of theses ULs have been reviewed by an experienced pathologist and analyzed by immunohistochemistry for FH in all 13 cases (as described previously (13)) and…”
Section: Tumor Samplesmentioning
confidence: 99%
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“…Histologically they show increased cellularity, eosinophilic cytoplasm, prominent vascularity in a staghorn “hematopericytoma”‐like pattern, and scattered bizarre nuclei, some with the nucleolar prominence and perinucleolar findings as described for the renal tumors, some multinucleate . 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%
“…48,49 Variable stromal edema has been described, as has schwannoma-like nuclear palisading. 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.…”
Section: Fh-deficient Rcc à From Metabolomic Derangement To Aggressivmentioning
confidence: 99%