scholarly journals Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes

2021 ◽  
Vol 11 ◽  
Author(s):  
Mohammad Al-Shinnag ◽  
Helen Marfan ◽  
Rachel Susman ◽  
Jan Wakeling ◽  
Sonja Gustafson ◽  
...  
Keyword(s):  
Renal Cell ◽  
Cell Cancer ◽  
Uterine Fibroids ◽  
National Guidelines ◽  
Clinical Model ◽  
Lung Cysts ◽  
Renal Mri ◽  
Cutaneous Leiomyomas ◽  
Hereditary Leiomyomatosis

AimWe aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort.MethodsAll identified patients with a diagnosis of BHD or HLRCC at RBWH 01/01/2014-01/09/2019 were included (HREC/17/QRBW/276). All patients were initially assessed and counselled by a clinical geneticist and then referred to an adult nephrologist. Baseline and incidental clinical variables were extracted and analysed.ResultsFifty-seven patients were identified (28 BHD, 29 HLRCC) with a median age of 47 years. The median and cumulative follow-up were 1 and 99 years, respectively. Baseline renal MRI occurred in 40/57 patients, and 33/57 had regular MRI as per the national guidelines (eviQ). Of 18/57 without baseline imaging, nine were yet to have imaging, seven were lost follow-up, and two patients had logistic difficulties. RCC was diagnosed in 11/57 patients: two of 28 with BHD were diagnosed with RCC aged 73 and 77, both prior to commencement of surveillance. Nine of 29 patients with HLRCC were diagnosed with RCC (one of 29 during surveillance at 47 years of age) and eight of 29 prior to commencement of surveillance (11–55 years). Amongst BHD patients, cutaneous fibrofolliculomas were noted in 15 patients, lung cysts were detected in seven patients, spontaneous pneumothoraces in five patients, and parotid oncocytoma in two of 28. Amongst those with HLRCC, cutaneous leiomyomas were noted in 19/29, cutaneous leiomyosarcoma diagnosed in one of 29, and uterine fibroids in 13 female patients.ConclusionEvidence-based RCC screening in BHD and HLRCC cohort is feasible and able to identify incidental renal lesions. Multidisciplinary patient management enables expedited genetic counselling, diagnosis, longitudinal screening, and RCC management. The success of this clinical model warrants consideration of undertaking longitudinal screening of BHD and HLRCC patients by nephrologists.

scholarly journals Rare Leiomyoma of the Tunica Dartos: A Case Report with Clinical Relevance for Malignant Transformation and HLRCC

2016 ◽  
Vol 2016 ◽  
pp. 1-5
Author(s):  
Robert C. Bell ◽  
Evan T. Austin ◽  
Stacy J. Arnold ◽  
Frank C. Lin ◽  
Jonathan R. Walker ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Renal Cell ◽  
Cell Cancer ◽  
Surgical Excision ◽  
High Rate ◽  
Case Presentation ◽  
Increased Risk ◽  
The Right ◽  
Cutaneous Leiomyomas

Background. Genital leiomyomas fall under the broader category of cutaneous leiomyomas, which are rare smooth muscle neoplasms accounting for 5% of all leiomyomas. Genital leiomyomas arising from the dartos muscle are exceedingly rare with fewer than 30 cases reported in the literature. They are typically benign and adequately treated with simple surgical excision; however, previously reported cases of malignant transformation and a possible link to the hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome warrant closer follow-up.Case Presentation. We report a case of a 47-year-old male refugee from Rwanda found to have a mobile, pea-sized, mildly painful scrotal lesion near the left penoscrotal junction and 1.5 cm indeterminate vascular mass in the right kidney. Surgical excision of the scrotal nodule was performed and the diagnosis of a dartoic leiomyoma was rendered. The presence of moderate nuclear atypia, rare mitotic activity, and close surgical margins prompted a wide reexcision. We report the surgical approach, pathologic findings, and clinical follow-up related to this scrotal lesion.Conclusion. Scrotal leiomyomas demonstrate a high rate of recurrence and pose a risk for malignant transformation. They may also indicate an underlying autosomal dominant syndrome associated with increased risk for development of an aggressive form of renal cell carcinoma. When discovered, management should include surgical excision, screening for syndromic features, and routine follow-up.

scholarly journals Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

2011 ◽  
Vol 11 (1) ◽  
pp. 123-129 ◽  
Author(s):  
Karin Y. van Spaendonck-Zwarts ◽  
Sadhanna Badeloe ◽  
Sjoukje F. Oosting ◽  
Sjoerd Hovenga ◽  
Harry J. F. Semmelink ◽  
...  
Keyword(s):  
Kidney Cancer ◽  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Hereditary Leiomyomatosis

scholarly journals Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids

2017 ◽  
Vol 15 ◽  
pp. 31-34 ◽  
Author(s):  
Pietro Bortoletto ◽  
Jennifer L. Lindsey ◽  
Liping Yuan ◽  
Bradley J. Quade ◽  
Antonio R. Gargiulo ◽  
...  
Keyword(s):  
Renal Cell Cancer ◽  
Renal Cell ◽  
Cell Cancer ◽  
Cutaneous Lesions ◽  
Hereditary Leiomyomatosis

scholarly journals Metastatic renal cell carcinoma of unknown primary site. Clinical follow-up

2020 ◽  
Vol 22 (3) ◽  
pp. 149-153
Author(s):  
N. A. Ognerubov ◽  
T. S. Antipova ◽  
G. E. Gumareva
Keyword(s):  
Computed Tomography ◽  
Renal Cell Carcinoma ◽  
Adrenal Gland ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
Clear Cell ◽  
Cell Cancer ◽  
Primary Site ◽  
The Right

Renal cell cancer metastases without evidence of a primary tumor are extremely rare. These variants are usually showed as a spontaneous description of single clinical cases. Aim.This contribution is a clinical follow-up of synchronous renal cell cancer metastases of unknown primary site. Results.A 52-year-old patient U. with a history of increased blood pressure, up to 170/100 mmHg for the last 5 years, who had undergone many instrumental examinations, including ultrasound examination, because of this disease. The computed tomography of the abdomen showed a 4975 mm heterogeneous tumor in the right adrenal gland in October 2017. The combined positron emission and X-ray computed tomography showed a 795441 mm mass in the right adrenal gland, associated with elevated fluorodeoxyglucose metabolic activity SUVmax 7.25. Focal accumulation of the radiopharmaceutical SUVmax 4.31 in a 171124 mm mass was detected in the space of bifurcation in the mediastinum. The lytic lesion (1015 mm) was found in right superior L3 articular process. The patient underwent retroperitoneoscopic adrenalectomy and thoracoscopic removal of mediastinal tumor in November 2017 because of the oligometastatic nature of the process. The histological study identified clear-cell carcinoma with areas of papillary structure in the right adrenal gland. The immunohistochemical study showed carcinoma cells intensively expressing CD10, and some other cells RCC. The immune phenotype of the tumor was identified as clear-cell renal cell carcinoma. The immunohistological and immunohistochemical analysis reviled the metastases of the same variant of renal cell carcinoma in one of 9 lymph nodes. The patient was treated with pazopanib. The primary renal tumor was not detected during the dynamic observation, including the application of annual combined positron emission and X-ray computed tomography. The patient is alive without disease progression with a follow-up of 32 months. Conclusion.Metastases of clear-cell renal cell carcinoma, including adrenal gland, without evidence of a primary site are extremely rare. The main method of treatment is a combination of surgery and targeted therapy, providing long-term local control of the course of the disease.

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