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Neuroendocrine carcinoma in a patient with Birt-Hogg-Dubé syndrome
Tijs Claessens1, Sherry A Weppler, Michel van Geel
1Department of Dermatology, Research Institute Growth and Development (GROW), School for Oncology and Developmental Biology, University of Maastricht, P. O. Box 616, 6200 MD Maastricht, The Netherlands.
Insights
Birt-Hogg-Dubé syndrome (BHD) patients may develop aggressive neuroendocrine carcinoma. Early detection and monitoring are crucial for timely treatment of this rare BHD complication.
Area of Science:
- Oncology
- Urology
- Genetics
Background:
- Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder.
- Patients with BHD have an increased risk of developing tumors.
Observation:
- A BHD patient presented with gross hematuria and a prostatic mass.
- Initial diagnosis suggested an inflammatory etiology.
- The patient later developed urinary retention, pelvic mass, rectal invasion, and lymphadenopathy.
Findings:
- Neuroendocrine carcinoma of the prostate or bladder was diagnosed.
- The patient died due to widespread metastasis before treatment could be initiated.
Implications:
- This case highlights the potential for aggressive neuroendocrine carcinoma in BHD patients.
- Enhanced surveillance and earlier diagnostic interventions are critical for improving outcomes in BHD.
- Genetic counseling and regular screening are essential for individuals with BHD.
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.