Testicular thecoma in an 11-year-old boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome).
ABSTRACT We report a case of testicular thecoma in an 11-year-old Japanese boy with nevoid basal-cell carcinoma syndrome (Gorlin syndrome). He presented with left testicular swelling and underwent a radical orchiectomy on suspicion of a malignant paratesticular tumor. The tumor arose from the testis exophytically and was diagnosed as a thecoma histopathologically. Ovarian thecoma-fibroma group tumors are closely associated with Gorlin syndrome or with abnormalities in PTCH, a candidate gene for the syndrome. The occurrence of an extremely rare testicular thecoma in this case (the second in the literature) suggests that such an etiological association may also exist in the pathogenesis of testicular tumors.
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Testicular thecoma in an 11-year-old boy with nevoid basal-
cell carcinoma syndrome (Gorlin syndrome).
Ueda, Masakatsu; Kanematsu, Akihiro; Nishiyama, Hiroyuki;
Yoshimura, Koji; Watanabe, Kenichiro; Yorifuji, Tohru;
Mikami, Yoshiki; Kamoto, Toshiyuki; Ogawa, Osamu
CitationJournal of pediatric surgery (2010), 45(3): E1-E3
Right© 2010 Elsevier Inc.
KURENAI : Kyoto University Research Information Repository
Testicular Thecoma in an 11-year-old Boy with Nevoid Basal-Cell Carcinoma Syndrome
Masakatsu Ueda1), Akihiro Kanematsu1), Hiroyuki Nishiyama1), Koji Yoshimura1), Kenichiro
Watanabe2), Tohru Yorifuji2), Yoshiki Mikami3), Toshiyuki Kamoto1) and Osamu Ogawa1)
Department of Urology, Kyoto University Graduate School of Medicine 1)
Department of Pediatrics, Kyoto University Graduate School of Medicine 2)
Department of Pathology, Kyoto University Graduate School of Medicine 3)
Correspondence and offprint requests to:
Osamu Ogawa MD, PhD
Department of Urology,
Kyoto University, Graduate School of Medicine
Tel: 81-75-751-3337 Fax: 81-75-751-8507
E-mail address: email@example.com
Abstract We report a case of testicular thecoma in an 11-year-old Japanese boy with nevoid basal-cell
carcinoma syndrome (Gorlin syndrome). He presented with left testicular swelling and underwent a radical
orchiectomy on suspicion of a malignant paratesticular tumor. The tumor arose from the testis exophytically,
and was diagnosed as a thecoma histopathologically. Ovarian thecoma-fibroma group tumors are closely
associated with Gorlin syndrome, or with abnormalities in PTCH, a candidate gene for the syndrome. The
occurrence of an extremely rare testicular thecoma in this case (the second in the literature) suggests that
such an etiological association may also exist in pathogenesis of testicular tumors.
Keywords: thecoma; Gorlin syndrome; testis
A thecoma is a benign stromal tumor typically seen in the ovary, and characterized by spindle-shaped cells
forming luteinization. 1 The pathogeneses of ovarian thecoma and fibroma are closely associated with a tumorigenic
syndrome called nevoid basal-cell carcinoma syndrome (Gorlin syndrome) or abnormalities in its candidate gene,
PTCH. 2 Herein, we report the first case of a testicular thecoma in a boy with Gorlin syndrome.
1. Case report
An 11-year-old boy was referred to us for painful scrotal swelling. His uncle had died of a cerebellar tumor. The
boy had previously been diagnosed with a cerebellar medulloblastoma at 7 months of age, and received a series of
surgeries, adjuvant multidrug chemotherapies, and radiation therapy. Since the age of 7 years, he had been
administered leuprolide as a treatment for premature elevation of testosterone. Concurrently, the boy was diagnosed
with Gorlin syndrome, based on the presence of skin lesions and odontogenic keratocysts, but without detectable
PTCH gene mutations.
At presentation, his external genitalia were at the prepubertal stage. He had palpably normal bilateral testes but
swelling in the left paratesticular area. He was diagnosed with epididymitis based on magnetic resonance imaging
(MRI, Fig.A), and spontaneous resolution of the pain. Seven months later, however, the paratesticular lesion
increased in size and formed a firm non-tender mass. MRI revealed a heterogeneous 21-mm mass adjacent to the
left testis (Fig.B). Germ cell tumor markers were negative. Testosterone was 29.9 ng/dL (normal range: 18-150
ng/dL), estradiol was 11.3 pg/mL (normal range: 5-16 pg/mL), luteinizing hormone was 0.9 mIU/mL (normal
range: <1-5 mIU/ml), and follicular stimulating hormone was 1.4 mIU/mL (normal range: 2-7 mIU/ml). There were
no signs of metastasis on radiography. An inguinal exploration revealed a well-circumscribed tumor located at the
caudal end of the testis (Fig.C). Since the intraoperative pathological examination could not exclude a malignant
mesenchymal tumor, a left radical orchiectomy was performed. Histopathologically, the tumor arose from the
tunica albuginea of the testis. Spindle cells were predominant, with occasional luteinization (Fig.D). The luteinized
tumor cells were positive for inhibin alpha and calretinin and negative for MyoD and desmin. Consequently, the
diagnosis of thecoma was established. The patient has remained free from recurrence for 2 years.
Thecoma is an extremely rare tumor in the testis, with just one previously reported case.3 Typically, thecomas are
benign stromal tumors arising from ovarian theca cells, and constitute 1% of all ovarian tumors.1 Ovarian stromal
tumors are classified into either thecoma or fibroma, and occasionally clumped together as a thecoma-fibroma
Gorlin syndrome is a disorder characterized by malformations of the skin, nerves, eyes, and bone,4 with frequent
loss of heterozygosity at 9q22.3 or abnormalities in the PTCH gene, a homolog of the patched gene in Drosophila.5
Gorlin syndrome patients without detectable PTCH mutations, as in the present case, are believed to have germinal
mosaicism.6 The syndrome are associated with basal cell carcinoma, ovarian tumor and medulloblastoma (as found
in the present case). Many women with this syndrome develop ovarian thecoma or fibroma at a mean age of 30
years.2,7 In parallel with these findings, loss of heterozygosity at 9q22.3 is observed in 40% of sporadic ovarian
thecoma-fibroma cases,8 suggesting a strong pathogenic association between PTCH abnormalities and
A possible explanation for the occurrence of testicular thecoma is one analogous to the association between Gorlin
syndrome and ovarian thecoma-fibroma, although the absence of a genetic linkage in the present case precludes a
definitive conclusion. The cytotoxic chemotherapy against the prior cerebellar tumor may have enhanced a genetic
predisposition to thecoma. Thus, thecoma-fibroma should be taken into the differential diagnosis for male patients
with Gorlin syndrome presenting with an intrascrotal mass. Since bilateral lesions are seen in the ovary,
testis-sparing surgery and contralateral surveillance should be recommended.7
The present case may suggest the existence of an unreported tumorigenic mechanism in the male gonads.
1. Roth LM: Recent advances in the pathology and classification of ovarian sex cord-stromal tumors: Int J Gynecol
Pathol 2006; 25: 199-215.
2. Kimonis VE, Goldstein AM, Pastakia B, et al: Clinical manifestations in 105 persons with nevoid basal cell
carcinoma syndrome. Am J Med Genet 1997; 69: 299-308.
3. Schenkman NS, Moul JW, Nicely ER, et al: Synchronous bilateral testis tumor: mixed germ cell and theca cell
tumor. Urology 1993; 42: 593-5.
4. Gorlin RJ: Nevoid basal-cell carcinoma syndrome. Medicine (Baltimore) 1987; 66: 98-113.
5. Johnson RL, Rothman AL, Xie J, et al: Human homolog of patched, a candidate gene for the basal cell nevus
syndrome. Science 1996; 272: 1668-71.
6. Wicking C, Shanley S, Smyth I, et al: Most germ-line mutations in the nevoid basal cell carcinoma syndrome
lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. Am
J Hum Genet 1997; 60: 21-26.
7. Evans DG, Ladusans EJ, Rimmer S, et al: Complications of the naevoid basal cell carcinoma syndrome: results
of a population based study. J Med Genet 1993; 30: 460-4.
8. Tsuji T, Catasus L, Prat J: Is loss of heterozygosity at 9q22.3 (PTCH gene) and 19p13.3 (STK11 gene) involved
in the pathogenesis of ovarian stromal tumors? Hum Pathol 2005; 36: 792-6.
(A) and (B) Magnetic resonance imaging of the left intrascrotal mass (T2-weighted) at first (A) and second referral
(B). (C) Gross appearance of the tumor. Th: Thecoma. T: Testis. E: Epididymis. (D) Microscopically, the tumor
consisted of spindle cells, with occacional lutenized cells that are immunoreactive for inhibin alpha (figure not