Journal of Clinical Oncology, Vol 25, No 29 (October 10), 2007: pp. 4686-4688
© 2007 American Society of Clinical Oncology.
DOI: 10.1200/JCO.2007.13.2621
Bilateral Germ Cell Tumors and Androgen Insensitivity Syndrome
Homayoon Shahidi,
Mark Robia
MeritCare Clinic, Bemidji, MN
A 38-year-old woman presented with a lump in her left groin in December 2002. She was thought to have an inguinal hernia. At surgery, a 7.6-cm mass was found in the inguinal canal that was removed. Pathology revealed mixed germ cell tumor arising in a testis. The tumor comprised of immature teratoma with cartilage and glandular elements (Fig 1) and areas of embryonal carcinoma, seminoma, and choriocarcinoma (Fig 2; upper left). Figure 3 shows residual atrophic testis (hematoxylin and eosin, x 400).
She had normal onset of puberty with breast development at age 12. She never had menstrual cycles. Her family history was notable for four maternal aunts with infertility. She had a female body habitus with adult contour female breasts and normal female external genitalia. She had sparse axillary hair. Her serum testosterone level after gonadectomy was 307 ng/dL (normal male, 240 to 950 ng/dL) and her luteinizing hormone level was 13 mU/mL (normal male, 1 to 10 mU/mL). Her serum human chorionic gonadotropin level was 35 U/mL (normal, < 5 U/mL) and her alpha-fetoprotein was 55 ng/mL (normal, < 15 ng/mL), and they normalized according to their half lives after surgery. A pelvic ultrasound showed no uterus and vagina was shortened.
A computed tomography (CT) scan of chest, abdomen, and pelvis showed no evidence of metastasis. On further evaluation, she was found to have a palpable mass in the right groin. Figure 4 is an axial pelvic CT image showing absent uterus and postsurgical changes in the left inguinal region. In the right inguinal region, a mass corresponding to her palpable groin mass can be seen (arrow). The latter was removed and the pathology showed a testis with a 4-mm focus of seminoma. Figure 5 shows the seminoma with some atrophic tubules (top left; x100). Treatment options were presented and it was decided to follow her on a surveillance program. She has remained disease free for 4.5 years.
Androgen insensitivity (testicular feminization) is a rare inherited condition with an incidence of 1 in 25,000 to 64,000 males. Affected individuals have normal differentiation of testes in utero, but a defect in the gene coding for the androgen receptor results in tissue insensitivity to androgens and development of female phenotype. There is, however, no uterus and vagina is partially formed. The testes are at high risk for malignant transformation.1
Germ cell tumors occurring in the setting of androgen resistance are managed similarly to testis cancers. In our patient, treatment options for her nonseminoma were retroperitoneal lymph node dissection, adjuvant chemotherapy, or surveillance. For her seminoma, options included para-aortic irradiation or surveillance. Regardless of the initial therapy, 98% to 99% of patients with stage I testis cancers are cured.2 Because gonadal lymphatics could be altered by surgery where malignancy is not suspected, regional therapies are potentially associated with a higher risk of relapse. Furthermore, the psychosocial impact of chemotherapy in this patient group is unknown. Surveillance may be the most appropriate option when these conditions are initially diagnosed in adulthood.
AUTHORS’ DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST
The author(s) indicated no potential conflicts of interest.
REFERENCES
1. New MI, Josso N: Disorders of sexual differentiation, in Goldman L, Ausiello D (eds): Cecil Textbook of Internal Medicine (ed 22). Philadelphia, PA, WB Saunders 2004, pp 1463-1472 2. De Wit R, Fizazi K: Controversies in the management of clinical stage I testis cancer. J Clin Oncol 24:5482-5492, 2006[Abstract/Free Full Text]
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