Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature

Abstract

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder in which the affected individuals tend to develop cutaneous leiomyomas, uterine leiomyomas, and renal cell cancer (RCC). Within the spectrum of this syndromic disease, RCC is the most severe manifestation, occurring at a younger age compared to the sporadic form. Pathological suspicion or diagnosis of HLRCC is critical for appropriate clinical management and genetic counseling of the affected family members. In this study, we report the case of a 27-year-old misdiagnosed carrier of HLRCC phenotype, who presented with a large solitary Type II papillary RCC.

A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant

“…Such a protein lacks a part of the intracellular component, similar to Fin-minor homozygotes. We do not therefore expect NS to recur in our patient ( 8 - 10 ).…”

“…Our patient is also heterozygote for the mutation in gene FH , for HLRCC. Such patients have an increased risk of renal carcinoma ( 10 ). However, our patient has already undergone bilateral nephrectomy.…”

Case report: Going through pregnancy safely after twice partial nephrectomy for bilateral kidneys with HLRCC-associated RCC

“…During pregnancy, she had no clinical manifestations of renal cancers and color ultrasound on the urinary system showed no significant change. According to previous reports, if a patient carries FH gene mutation, early reproduction should be considered because the patient is at high risk of early hysterectomy and infertility ( 17 – 19 ). However, this case provides a reference for pregnancy in patients carrying FH gene mutation, even though she had uterine fibroids and bilateral HLRCC-associated RCC.…”

Hereditary Leiomyomatosis and Renal Cell Carcinoma: A Case Report and Review of the Literature

“…These lesions usually appear in the second to fourth decades of life, and usually it increases in number and size with age [ 6 ]. It is usually described as a skin-colored to light brown dermal nodules, often affecting the face, neck, trunk, and extremities [ 2 ]. However such lesions were not present in our case.…”

“…It is usually classified as Type II papillary RCC and frequently occurs in 10-16% of cases. Due to its early presentation at a young age and the aggressiveness of its nature more than the sporadic variety, carriers of HLRCC should be monitored closely [ 2 ].…”