Cutaneous and uterine leiomyomatosis and ovarian cystadenoma associated with deficiency of fumerate hydratase

Hüller, Cornelia; Grunow, N; Nadler, Torsten; Bär, Michael

doi:10.5826/dpc.0101a07

Cited by 2 publications

(2 citation statements)

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“…The association of male infertility, adrenocortical hyperplasia/tumor, thyroid follicular carcinoma, cutaneous basal cell carcinoma, bladder cancer, liver hemangioma, Leydig cell tumor, ovarian cystadenoma, gastrointestinal stromal tumor, breast cancer, leukemia, cutis verticis gyrate, eruptive collagenoma and Charcot-Marie-Tooth disease has been previously reported [3,7,21,28,29,30,31,32,33].…”

Section: Other Clinical Featuresmentioning

confidence: 94%

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Review of hereditary leiomyomatosis renal cell carcinoma with focus on clinical and pathobiological aspects of renal tumors

Ohe

Kato

Furuya

et al. 2017

pjp

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The entity of hereditary leiomyomatosis renal cell carcinoma (HLRCC)-associated RCC has been proposed and integrated into the recent International Society of Urologic Pathology (ISUP) of renal tumors. This tumor is characterized by presence of cutaneous and/or uterine leiomyomas and RCC and autosomal dominant hereditary form. Grossly, HLRCC arising in the kidney show the solid tumor with frequent partial cystic area. Microscopically, the tumor typically shows papillary RCC, type 2, with eosinophilic large nucleoli reminiscent of cytomegaloviral inclusion and perinuclear clearing/haloes. Immunohistochemically, tumor cells show the overexpression for 2SC and reduced expression of FH. Germline mutation of fumarate hydratase (FH) gene, the HLRCC responsible gene mapped to chromosome 1q43, has been identified in patients with HLRCC. As the renal cancer in patients with HLRCC generally behave aggressively even in a small size, complete surgical resection and retroperitoneal lymph node resection should be performed promptly when the tumor is discovered. The surveillance of renal tumor in FH gene germline mutation-positive patients should be started from the early age using ultrasound sonography or magnetic resonance imaging.

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Section: Other Clinical Featuresmentioning

confidence: 94%

“…The association of some diseases except for cutaneous and/or uterine leiomyomas in HLRCC has been reported [3,7,21,28,29,30,31,32,33]. Among them, somatic mutation of FH gene was identified in one bladder cancer and three breast carcinoma.…”

Section: Future Perspectivesmentioning

confidence: 99%