Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma

Abstract Background The objective of this study is to discuss clinical characteristics and treatments of hereditary leiomyomatosis renal cell carcinoma on the basis of 2 cases and to review recent literature, in order to present medical advances. Methods A 29-year old male patient came to our hospital because of a huge tumour on the right kidney. Enhanced CT showed that the tumour was about 15.5*10.5 cm, and was considered to be malignant. Another case was a 38-year old female patient. She complained was found to have a right kidney tumour in a routine physical examination. Enhanced CT showed an early-stage tumour of about 4.3*3.7 cm on the lower pole of the right kidney. The male patient underwent open radical nephrectomy and the female patient underwent laparoscopic radical nephrectomy and extensive retroperitoneal lymph node dissection. The two patients underwent genetic testing and were diagnosed as having hereditary leiomyomatosis with renal cell carcinoma. Results The postoperative pathology in both patients revealed type 2 papillary renal cell carcinoma but with different prognosis. The male patient suffered multiple metastasis 10 months post-operation. The metastatic tumour of the abdominal wall was resected to confirm recurrence and hereditary leiomyomatosis renal cell carcinoma was diagnosed by the genetic test. While the female patient had a specific family history and uterine leiomyomas, the genetic test helped us to identify hereditary leiomyomatosis renal cell carcinoma pre-operation. Because of the early diagnosis and timely treatment, the female patient was considered to have a good prognosis. Conclusion Hereditary leiomyomatosis renal cell carcinoma is a rare hereditary disease resulting from FH gene mutation. There are currently no effective treatments.Our cases demonstrate that hereditary leiomyomatosis renal cell carcinoma is a very aggressive disease. Early screening and surveillance are recommended for patients with a family history or who are at risk of hereditary leiomyomatosis renal cell carcinoma. Surgical and palliative therapy still play an important role in clinical treatment.

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Aberrant expression of apoptosis proteins and ultrastructural aberrations in uterine leiomyomas from patients with hereditary leiomyomatosis and renal cell carcinoma

Fertility and Sterility ◽

10.1016/j.fertnstert.2006.02.106 ◽

2006 ◽

Vol 86 (4) ◽

pp. 961-971 ◽

Cited By ~ 3

Author(s):

N WORTHAM ◽

N ALAM ◽

E BARCLAY ◽

P POLLARD ◽

B WAGNER ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Uterine Leiomyomas ◽

Aberrant Expression ◽

Apoptosis Proteins ◽

Hereditary Leiomyomatosis

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Hereditary leiomyomatosis and renal cell carcinoma syndrome: A case report

Dermatology Online Journal ◽

10.5070/d382p000cw ◽

2008 ◽

Vol 14 (1) ◽

Author(s):

Hayedeh Ghaninejad ◽

Fatemeh Moeineddin ◽

Ahmadreza Rajaee ◽

Masoud Asgari ◽

Ahmad Salimzadeh

Keyword(s):

Renal Cell Carcinoma ◽

Case Report ◽

Cell Carcinoma ◽

Renal Cell ◽

Hereditary Leiomyomatosis

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Multiple cutaneous and uterine leiomyomatosis in a 36-year-old female, and discussion of hereditary leiomyomatosis and renal cell carcinoma

International Journal of Dermatology ◽

10.1111/j.1365-4632.2011.05456.x ◽

2012 ◽

Vol 51 (10) ◽

pp. 1213-1216 ◽

Cited By ~ 6

Author(s):

Nadine D. Henley ◽

Valerie A. Tokarz

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Renal Cell ◽

Hereditary Leiomyomatosis

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WITHDRAWN: Hereditary leiomyomatosis renal cell carcinoma: A rare case report

Urology Case Reports ◽

10.1016/j.eucr.2019.101045 ◽

2020 ◽

Vol 33 ◽

pp. 101045

Author(s):

Dalin Feng ◽

Xiaoli Diao ◽

Mingshuai Wang ◽

Xiaodong Zhang ◽

Jianwen Wang

Keyword(s):

Renal Cell Carcinoma ◽

Case Report ◽

Cell Carcinoma ◽

Renal Cell ◽

Rare Case ◽

Rare Case Report ◽

Hereditary Leiomyomatosis

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Complexities in estimating the true risk of hereditary leiomyomatosis and renal cell carcinoma and the development of kidney cancer

Cancer ◽

10.1002/cncr.32915 ◽

2020 ◽

Vol 126 (16) ◽

pp. 3617-3619

Author(s):

Mark W. Ball ◽

Christopher J. Ricketts

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Kidney Cancer ◽

Renal Cell ◽

Hereditary Leiomyomatosis

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Clinical evaluation of 2-(18F) fluoro-2 deoxy-D-glucose PET/ CT in hereditary leiomyomatosis and renal cell carcinoma.

Journal of Clinical Oncology ◽

10.1200/jco.2013.31.6_suppl.383 ◽

2013 ◽

Vol 31 (6_suppl) ◽

pp. 383-383 ◽

Cited By ~ 1

Author(s):

Brian Shuch ◽

Kevin P. Asher ◽

Clara Chen ◽

Kelly Lin ◽

Gennady Bratslavsky ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Cell Carcinoma ◽

Kidney Cancer ◽

Fdg Pet ◽

Renal Cell ◽

Aerobic Glycolysis ◽

Renal Lesions ◽

Pet Ct ◽

Fdg Pet Ct ◽

Hereditary Leiomyomatosis

383 Background: 2-(18F) fluoro-2 deoxy-D-glucose (FDG) PET/CT is a useful tool in the staging of malignancies. In patients with kidney cancer, the role of FDG is limited in those with clear-cell histology and remains to be evaluated with other subtypes. Kidney cancer associated with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is characterized by a defect in the Krebs cycle rendering these tumors highly dependent on aerobic glycolysis (the ‘Warburg effect’) with high glucose uptake to fulfill their energy requirements; we hypothesized that FDG PET/CT may have excellent sensitivity for staging in this condition. Methods: We retrospectively reviewed patients with HLRCC kidney cancer that underwent FDG PET/CT in conjunction with anatomic imaging at our institution. The ability of FDG PET/CT to detect malignant lesions (defined using pathologic or radiologic criteria) was evaluated. Results: A total of 30 patients underwent 42 PET /CTs. Conventional imaging identified a total of 107 lesions. Both patient and lesion-based analyses were performed. A total of 90 lesions, including ten renal lesions, were classified as malignant. 76 of 80 extra-renal lesions were correctly identified as malignant by PET/CT (sensitivity, 95%, CI 88-98%). In contrast, only 4 of 10 renal lesions were correctly identified as malignant (sensitivity, 40%, CI 17-69%). 11 of 12 histologically confirmed extra-renal lesions were PET avid (sensitivity, 92%, CI-64-98%). 10 of 12 (83%) benign lesions associated with HLRCC including uterine/cutaneous leiomyomas and adrenal nodules were PET avid. In a patient based analysis, all 18 patients with extra-renal spread of kidney cancer were correctly identified (sensitivity 100%, CI 82-100%). Conclusions: FDG PET/CT is a highly sensitive diagnostic modality for identifying metastatic kidney cancer associated with HLRCC. Prospective studies evaluating the utility of PET/CT imaging to characterize response to systemic therapy are currently underway.

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