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Detailed morphologic and immunohistochemical characterization of myomectomy and hysterectomy specimens from women with hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC)

American Journal of Surgical Pathology Aug 19, 2019

Chan E, et al. - The clinical and pathologic characteristics of uterine leiomyomas from women with hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) were described in detail. All the six included patients, who had proven fumarate hydratase (FH) germline mutations, presented with symptomatic uterine fibroids and underwent myomectomy (age 24 to 36 y). This was followed by hysterectomy in 2 patients (age 31 and 40 y). Conventional leiomyomas, cellular leiomyomas and leiomyomas with bizarre nuclei were identified in specimens. In leiomyomas from all patients, researchers usually noted a diffuse and well developed FH-deficient (FH-d) morphology but this may be absent or focal and subtle. Variable results with FH IHC could be observed and they recommend not using the presence of retained FH staining to exclude the possibility of HLRCC. Consideration for referral for genetic counseling and testing is emphasized in a young patient with uterine leiomyomas showing FH-d morphology even if immunohistochemical staining for FH is retained.
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