Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree

Choi, Grace; Kimonis, Virginia; Hall, Katherine; Lau, Wei Ling

doi:10.1016/j.amjms.2020.05.048

Cited by 2 publications

(2 citation statements)

References 19 publications

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“…Ongoing studies have demonstrated associations between inherited cancer susceptibility syndromes, RCC, and skin [119,120]. Patients diagnosed with hereditary leiomyomatosis and RCC-associated leiomyomatosis present with a fumarate hydratase gene mutation.…”

Section: Paraneoplastic Syndromes In Rccmentioning

confidence: 99%

“…This mutation leads to intracellular fumarate accumulation, which mediates proteomic and epigenetic events, ultimately leading to HIF-1 activation. Cutaneous manifestations include multiple cutaneous piloleiomyomas, presenting as firm, reddish-colored papules or nodules [119,120]. Birt-Hogg-Dubé syndrome is a rare autosomal dominant inherited disorder associated with ccRCC and chRCC, caused by point mutations and rearrangements of the folliculin gene.…”

Section: Paraneoplastic Syndromes In Rccmentioning

confidence: 99%

See 1 more Smart Citation

The Cellular Stress and Cutaneous Manifestations in Renal Cell Carcinomas—A Narrative Review

Ene,

Nicolae,

Tampa

et al. 2024

JCM

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The carcinomas originating from the renal cortex are the most aggressive renal malignancies, with a high tendency for metastasis. Understanding the incidence of cutaneous manifestations caused by renal carcinomas is a challenge. In the first part, this article summarizes a series of factors that promote oncogenesis, invasiveness, and the ability of renal cell carcinoma (RCC) to develop secondary cutaneous manifestations. It is postulated that the cellular stress response is one of the leading causes of developing dermatological events induced by cancers located at distant sites. Furthermore, the paper provides an overview of cutaneous complications associated with renal cancer, categorized as malignant manifestations (metastases, synchronous or metachronous cutaneous malignancies associated with renal cancer), non-malignant indirect cutaneous manifestations associated with renal cancer, and treatment consequences. The data presented in this article suggest that recognizing certain cutaneous disorders could assist the physician in the early identification of renal neoplasms and could lead to a better prognosis.

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Section: Paraneoplastic Syndromes In Rccmentioning

confidence: 99%

Section: Paraneoplastic Syndromes In Rccmentioning

confidence: 99%

The Cellular Stress and Cutaneous Manifestations in Renal Cell Carcinomas—A Narrative Review

Ene,

Nicolae,

Tampa

et al. 2024

JCM

View full text Add to dashboard Cite

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Fumarate Hydratase-Deficient Abdominal Wall Leiomyoma Presenting a Decade Post-Fumarate Hydratase-Deficient Uterine Leiomyoma Excision: An Incidental or Syndromic Association?

Shaker,

Li,

Shaker

et al. 2024

Int J Surg Pathol

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Background. The occurrence of fumarate hydratase-deficient leiomyoma of the abdominal wall is exceptionally rare. Case Presentation. A 50-year-old female patient with a past medical history of fumarate hydratase-deficient uterine leiomyoma presented with a left lower quadrant abdominal mass that has been present for the past 2 years. An ultrasound revealed a 3.5 cm oval hypoechoic mass. A subsequent CT scan showed a 3.5 cm hyperdense mass within the left internal oblique musculature. No family history is noted. A biopsy of the mass exhibited bundles of spindle cell neoplasm exhibiting bizarre ovoid nuclei and eosinophilic cytoplasm. No evidence of mitotic figures or tumor necrosis was noted. Immunohistochemical staining showed positive staining for desmin and smooth muscle actin (SMA), but negative staining for MART-1, S100, and CD34. Lesional cells showed expression of 2-succinocysteine and loss of fumarate hydratase expression. A diagnosis of fumarate hydratase-deficient leiomyoma was rendered. Conclusion. This report reinforces the importance of considering genetic testing for fumarate hydratase mutations in the evaluation of extra-uterine leiomyomatous lesions. Comprehensive follow-up and clinical screening in individuals with new lesions and a known history of fumarate hydratase-deficient neoplasms is mandatory. Recent recommendations support the integration of morphology-based evaluation along with immunohistochemical staining and genetic testing as a part of the standard evaluation for all uterine leiomyomas.

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Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree

Cited by 2 publications

References 19 publications

The Cellular Stress and Cutaneous Manifestations in Renal Cell Carcinomas—A Narrative Review

The Cellular Stress and Cutaneous Manifestations in Renal Cell Carcinomas—A Narrative Review

Fumarate Hydratase-Deficient Abdominal Wall Leiomyoma Presenting a Decade Post-Fumarate Hydratase-Deficient Uterine Leiomyoma Excision: An Incidental or Syndromic Association?

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