Hereditary leiomyomatosis and renal cell cancer presenting as urothelial carcinoma

Hereditary leiomyomatosis is a genetic disorder that follows an autosomal dominant pattern of inheritance. Along with a variety of leiomyomas, affected individuals are predisposed to developing an aggressive form of type 2 papillary renal malignancy known as Hereditary Leiomyomatosis Associated Renal Cell Carcinoma (HLRCC) that can occur in both the tubulo-papillary and collecting-duct systems. We present a rare case of HLRCC with components of urothelial carcinoma. The patient was treated with cisplatin-based neoadjuvant chemotherapy followed by left radical nephroureterectomy to achieve complete remission of disease.

Download Full-text

Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report

BMC Cancer ◽

10.1186/s12885-016-2272-7 ◽

2016 ◽

Vol 16 (1) ◽

Cited By ~ 5

Author(s):

Takao Kamai ◽

Hideyuki Abe ◽

Kyoko Arai ◽

Satoshi Murakami ◽

Setsu Sakamoto ◽

...

Keyword(s):

Renal Cell Carcinoma ◽

Renal Cell ◽

Regional Lymph Node ◽

Cell Cancer ◽

Locally Advanced ◽

Papillary Renal Cell Carcinoma ◽

Node Dissection ◽

Regional Lymph Node Dissection ◽

Hereditary Leiomyomatosis

Download Full-text

Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma

Nature Clinical Practice Oncology ◽

10.1038/ncponc0773 ◽

2007 ◽

Vol 4 (4) ◽

pp. 256-261 ◽

Cited By ~ 34

Author(s):

Munir Al Refae ◽

Nora Wong ◽

François Patenaude ◽

Louis R Bégin ◽

William D Foulkes

Keyword(s):

Renal Cell Cancer ◽

Renal Cell ◽

Renal Carcinoma ◽

Cell Cancer ◽

Aggressive Form ◽

Hereditary Leiomyomatosis

Download Full-text

Hereditary Leiomyomatosis and Renal Cell Cancer: A Syndrome Associated With an Aggressive Form of Inherited Renal Cancer

Yearbook of Dermatology and Dermatologic Surgery ◽

10.1016/s0093-3619(08)70866-9 ◽

2008 ◽

Vol 2008 ◽

pp. 243-244

Author(s):

B.H. Thiers

Keyword(s):

Renal Cancer ◽

Renal Cell Cancer ◽

Renal Cell ◽

Cell Cancer ◽

Aggressive Form ◽

Hereditary Leiomyomatosis

Download Full-text

Abnormal Cystic Tumor in a Patient with Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: Evidence of a Precursor Lesion?

Case Reports in Urology ◽

10.1155/2015/303872 ◽

2015 ◽

Vol 2015 ◽

pp. 1-5 ◽

Cited By ~ 3

Author(s):

Benjamin T. Ristau ◽

Sonal N. Kamat ◽

Tatum V. Tarin

Keyword(s):

Growth Factor ◽

Renal Cell Cancer ◽

Renal Cell ◽

Cell Cancer ◽

Fumarate Hydratase ◽

Cystic Tumor ◽

Precursor Lesion ◽

Glucose Transporter 1 ◽

Hereditary Leiomyomatosis

The hereditary leiomyomatosis and renal cell cancer (HLRCC) association is a rare syndrome caused by mutation of the Kreb’s cycle enzyme, fumarate hydratase (FH). It is characterized by unusually aggressive type 2 papillary renal cell histology. FH is responsible for catalyzing the conversion of fumarate to malate. Its absence leads to a state of “pseudohypoxia,” inducing hypoxia inducible factor 1α(HIF-1α) and leading to increased growth factor transcription (e.g., vascular endothelial growth factor, VEGF; glucose transporter 1, GLUT1). Ultimately, this results in tumorigenesis. We present a patient who was diagnosed with HLRCC and underwent bilateral nephrectomies. One of the nephrectomy specimens was notable for benign cystic lesions that stained positive immunohistochemically for succinated proteins, a finding only noted in FH-deficient cells. Thus, we posit a potential precursor lesion to type 2 papillary renal cell carcinoma in the HLRCC syndrome.

Download Full-text

Hereditary Leiomyomatosis and Renal Cell Cancer: A Syndrome Associated With an Aggressive Form of Inherited Renal Cancer

The Journal of Urology ◽

10.1016/j.juro.2007.01.155 ◽

2007 ◽

Vol 177 (6) ◽

pp. 2074-2080 ◽

Cited By ~ 156

Author(s):

Robert L. Grubb ◽

Michael E. Franks ◽

Jorge Toro ◽

Lindsay Middelton ◽

Lynda Choyke ◽

...

Keyword(s):

Renal Cancer ◽

Renal Cell Cancer ◽

Renal Cell ◽

Cell Cancer ◽

Aggressive Form ◽

Hereditary Leiomyomatosis

Download Full-text

Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach

BMJ Case Reports ◽

10.1136/bcr-2016-215115 ◽

2017 ◽

pp. bcr-2016-215115

Author(s):

Agnieszka Adams ◽

Kendall Katie Sharpe ◽

Peter Peters ◽

Michael Freeman

Keyword(s):

Renal Cell Cancer ◽

Renal Cell ◽

Multidisciplinary Approach ◽

Autosomal Dominant ◽

Cell Cancer ◽

Fumarate Hydratase ◽

Team Approach ◽

Loss Of Function ◽

Rare Tumours ◽

Hereditary Leiomyomatosis

Cutaneous leiomyomasare rare tumours of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the fumarate hydratase gene. Sufferers of this disorder are predisposed to the development of tumours of the skin and/or uterus, with a further subset of HLRCC families at risk of renal cell carcinoma with papillary features. This syndrome is rare and carries with it a significant rate of mortality. A multidisciplinary approach to care is critical in the management of these patients and their families. The dermatologist can play a central role in this process, coordinating care between specialist medical and allied health teams.

Download Full-text