Penile squamous cell carcinoma following childhood hypospadias repair

Abstract

We report a case of a 46-year-old man who presented with recurrent lower urinary tract infections and obstructive voiding symptoms on the background of a proximal hypospadias repair at 4 years of age. A mass was later identified at his distal urethra, which on biopsy was found to be a penile squamous cell carcinoma. The lesion was excised en bloc, and at 10 months post-excision, the patient has no evidence of local or regional recurrence.

Background

Hypospadias is one of the most common birth defects among infant males and its incidence is increasing.¹ Surgical repair is often complicated by urethral stricture, fistula or meatal stenosis, with up to 32% of patients requiring revision surgery.² Penile squamous cell carcinoma (SCC) is a rare adult complication of hypospadias repair and, to our knowledge, only one other case has been described in the literature.³

Case presentation

A 46-year-old man from a regional centre presented with recurrent lower urinary tract infections and voiding issues associated with apparent obstruction to his penile urethra. He had been treating his symptoms over several years by daily size 10 French catheter urethral dilation. The patient’s medical history was significant for a proximal hypospadias repair at 4 years of age. The type of repair was unknown, although circumcision had also been performed. Later, at age 26, he was treated for meatal stenosis with urethral dilatation. The procedure only provided partial improvement of his obstructive voiding symptoms.

The patient was initially managed in the regional centre with otis urethrotomy and ongoing urethral self-dilatation. His symptoms persisted and progressed in terms of difficulties with catheter dilatation and penile pain. The patient’s glans had become increasingly swollen with a palpable irregular mass on the ventral surface of the penile shaft. Purulent fluid was intermittently discharging from the distal urethra. On urethroscopy, it was apparent that the mass was involving the patient’s distal neourethra for approximately 2 cm and partially occluding it.

Investigations

The patient was investigated for infectious causes. Screens for sexually transmitted illnesses were negative. Standard microscopy and culture results of the fluid discharging from the mass returned Pseudomonas aeruginosa. Acid-fast bacilli microscopy and culture did not identify any organisms.

Differential diagnosis

Two differential diagnoses were considered. The first was a penile malignancy arising in the context of chronic inflammation of the penis and urethra. The second differential was a mass secondary to an infective process; however, all investigations did not identify a clear infective aetiology.

Treatment

The urethral mass was excised en bloc and sent for histopathological analysis. A first-stage urethroplasty was performed following excision (figure 1). Histopathology identified a moderately differentiated keratinising SCC along with balanitis xerotica obliterans (figure 2). The lesion extended from the urethra through to the skin; however, it was unable to be determined if the point of origin was from the overlying skin or meatus. No lymphovascular or perineural invasion was identified; however, surgical margins were infiltrated by tumour. The patient subsequently underwent re-excision of the ventral penile scar and a left inguinal sentinel lymph node biopsy. Neither the re-excision sample nor the sentinel lymph node identified any malignancy on histopathology. Positron emission tomography CT likewise was not suspicious for regional metastases.

Figure 1.

Image of penis following initial first-stage urethroplasty. Neomeatus created approximately 4 cm proximal to original meatus.

Figure 2.

Histopathology of penile SCC excision. (A) The moderately differentiated keratinising SCC has fungating exophytic papillomatous fronds as well as endophytic jagged base cuffed by dense inflammatory cells. Transition to uninvolved hyperplastic squamous epithelium is to the left of the field. (B) Balanitis xerotica obliterans component is present within the adjacent skin. SCC, squamous cell carcinoma.

Outcome and follow-up

The patient is now 10 months since his original admission and has no evidence of disease. Fine needle aspirates of his bilateral superficial inguinal lymph nodes, and urethral and penile tissue samples sent for histopathology during his reconstructive procedures also demonstrate no malignancy. The patient’s reconstruction remains incomplete.

Discussion

Penile SCC after childhood hypospadias repair is a rare pathology and, to our knowledge, there is only one other case described in the literature. DeRosa et al³ reported the case of a 27-year-old man who developed penile SCC on the background of a hypospadias repair at 5 years of age, which had been complicated by unrepaired fistula since 9 years of age. The patient presented with an acute-on-chronic history of obstructive urinary symptoms, recurrent urinary tract infections and fistula.

Penile SCC typically arises in the context of chronic inflammation of the urethra and/or penis and common risk factors include trauma, urethral strictures, inflammatory dermatological conditions, poor hygiene and sexually transmitted infections.⁴ Urethral strictures, fistula and meatal stenosis are complications of hypospadias repair and there is a growing body of evidence that, for many patients, voiding issues following hypospadias repair may only become evident in adolescence or adulthood.⁵ One study which followed a single paediatric urologist’s patients 20 years post hypospadias repair found rates of ongoing stricture and fistula in adult life of 10% and 11%, respectively.⁵ Despite increasing recognition of adult complications of childhood hypospadias repair, very few formally transition from paediatric to adult urological care.⁵

Our case and that reported by DeRosa et al³ demonstrate the diagnostic challenges of identifying penile malignancy in the context of childhood hypospadias repair. It is of note that in both cases, patients had no other risk factors for penile SCC other than the strictures or fistulas, respectively, which complicated their original operation. While this is an exceedingly rare sequelae of childhood hypospadias repair, it is a reminder of the potentially lifelong impact of this procedure and that a population of these children would benefit from adult urological follow-up.

Learning points.

• Urethral stricture, fistula or meatal stenosis are common complications of childhood hypospadias repair, which may only declare in adolescence or adulthood.

• Chronic inflammation secondary to these complications of childhood hypospadias repair may drive malignant pathogenesis and thus penile squamous cell carcinoma.

• There may be a role for some patients who have childhood hypospadias repairs to be formally transitioned to adult urological services to ensure that complications of surgery are recognised and treated early.