Asymptomatic Renal Cell Carcinoma as a finding of Bardet Biedel Syndrome

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Asymptomatic Renal Cell Carcinoma as a finding of
Bardet Biedel Syndrome

• Renzo A. Zaldívar, Matthew D. Neale, William E.
  Evans, Jose S. Pulido
• Mayo Clinic
• Rochester, MN

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Financial disclosure

• None of the authors have any financial interest
  in this case.
• Nor do they have any financial relationships
  related to this case.

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Introduction

• Retinitis pigmentosa (RP) is a dystrophy of the
  photoreceptors and pigment epithelium.
• Systemic conditions can present as RP. One such
  condition is Bardet-Biedl syndrome.

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IntroductionBardet-Biedl Syndrome

• Features include
• Polydactyly
• Obesity
• Hypogonadism
• Renal anomalies

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Case Report

• 30 year old male
• increasing fatigue x 2 months
• increased unintentional weight loss
• reduced exercise tolerance
• increase in frequency and intensity of his
  chronic low back pain

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Case Report

• PMH
• no history of hypertension or diabetes
• no previous exposure known carcinogens
• At birth he was noted to have supernumerary
  digits on his feet, and these were surgically
  removed at an early age.

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Case Report

• Developmentally normal without any learning
  disability or cognitive impairment.
• At 16 he began to manifest signs of RP
• progressive decreasing vision
• In light of his history of polydactyly, a
  putative diagnosis of BBS was made.

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Case Report

• VA cc OD 8/200 OS 6/200
• A/C, ou normal
• DFE, ou trace vitreous cell, vascular
  attenuation, hyperplastic RPE with bone spicule
  adjacent to vessels, and multiple areas of RPE
  atrophy.
• no optic atrophy or evidence of macular edema, ou

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OD
10
OS
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Case Report

• Medical evaluation
• palpable mass in the left upper quadrant
• hepatomegaly
• left sided varicocele
• elevated LFTs
• anemia of chronic disease

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Case Report

• CT abdomen
• 20x16x20 cm left renal mass with high vascularity
  and central necrosis
• lesions in the liver, external iliac nodes, and
  common iliac node
• locally invasive into left hemidiaphragm, left
  perirenal fascia, T12 and L1 vertebral bodies

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CT image showing large renal cell carcinoma with
invasion of vertebral body
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Case Report

• Biopsy confirmed the presence of grade 4/4 clear
  cell renal cell carcinoma.
• In an effort to shrink the tumor,
  angioembolization was attempted but was
  unsuccessful.
• Palliative chemotherapy and radiation followed
  and the patient died 2 months later.

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Renal anomalies and BBS

• Include
• renal dysplasia
• chronic glomerulonephritis
• cystic tubular disease
• calyceal and lower urinary tract malformations
• defects of tubular concentrating ability

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Discussion

• Beales et al
• 17 fold increased risk for development of RCC in
  obligate carriers of a BBS gene.
• All RCC in the study were of the same clear cell
  histopathological type.

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Discussion

• BBS heterozygosity confers higher risk for RCC.
• Affected individuals may therefore be at
  increased risk for development of RCC.
• To our knowledge, this is the first case of
  concurrent RCC and BBS.

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Conclusions

• Although this syndrome is relatively rare, it has
  a unique constellation of signs and symptoms that
  should afford an opportunity for diagnosis.
• If the diagnosis can be made early on,
  appropriate screening may prevent the late
  discovery of RCC or other renal disorders in
  these patients.