Abstract
Background. A patient with Birt–Hogg–Dubé syndrome (BHD) presented with gross hematuria of 6 months' duration. Imaging revealed the presence of a mass in the left prostatic lobe, in addition to a previously observed renal mass. Prostate biopsy and imaging findings indicated an inflammatory etiology, and the patient was discharged. 5 months later, the patient presented once again with urinary retention. During transurethral resection of the prostate, a mass adjacent to the bladder was observed. Postoperative imaging revealed a large pelvic mass, a second mass impinging on the rectum, and extensive lymphadenopathy. The patient died 2 weeks later.
Investigations. CT and MRI, physical examination, measurement of serum markers, urinalysis, transrectal prostate biopsy, histopathological and genetic examination of tumor specimens, postmortem immunohistochemical analysis.
Diagnosis. Neuroendocrine carcinoma of prostate or bladder origin.
Management. The patient died before planned chemotherapy or radiation therapy could be implemented. More-frequent monitoring of the patient might have led to earlier diagnosis and allowed treatment to be started before widespread tumor metastasis and invasion.
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Acknowledgements
M. A. M. van Steensel is supported by grants from the University Hospital Maastricht, the GROW School for Oncology and Developmental Biology and the Dutch Cancer Society (UM 2009-4352). S. A. Weppler, T. Claessens and M. A. M. van Steensel are members of the European Birt–Hogg–Dubé Consortium. T. Claessens is supported by a GROW grant.
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T. Claessens, S. A. Weppler, D. Creytens, M. Vreeburg and M. A. M. van Steensel researched data for the article. T. Claessens, S. A. Weppler, M. van Geel, M. Vreeburg, B. Wouters and M. A. M. van Steensel made substantial contributions to discussing the content. T. Claessens, M. van Geel, D. Creytens, B. Wouters and M. A. M. van Steensel were involved in writing the article. T. Claessens, S. A. Weppler, M. van Geel, M. Vreeburg, B. Wouters and M. A. M. van Steensel performed review/editing of the manuscript before submission.
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Supplementary Figure 1
Sequence traces of FLCN exon 12 showing heterozygosity for the germline mutation 1408–1418delGGGAGCCCTGT in (a) unaffected tissue, (b) the papillary renal cell carcinoma and (c) the neuroendocrine carcinoma. (DOC 160 kb)
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Claessens, T., Weppler, S., van Geel, M. et al. Neuroendocrine carcinoma in a patient with Birt–Hogg–Dubé syndrome. Nat Rev Urol 7, 583–587 (2010). https://doi.org/10.1038/nrurol.2010.140
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DOI: https://doi.org/10.1038/nrurol.2010.140
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