Seminoma in Klinefelter's syndrome with 47 XXY, 15s+ karyotype

Isurugi, Koichiro; Imao, Sadao; Hirose, Kinjiro; Aoki, Hirotaka

doi:10.1002/1097-0142(197705)39:5<2041::aid-cncr2820390521>3.0.co;2-x

Cited by 35 publications

(12 citation statements)

References 17 publications

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“…With respect to the low occurrence of testicular germ cell tumors in patients with KFS, Isurugi et al speculated that most of the germ cells degenerate and disappear before germ cell tumors developed in these patients. 4 Sasagawa et al reported the hormonal profile of KFS with an epidermoid cyst. 5 In their study, the mean levels of plasma LH, FSH, testosterone and prolactin did not differ significantly between KFS patients with and without testicular epidermoid cysts.…”

Section: Discussionsupporting

confidence: 54%

Testicular epidermoid cyst in Klinefelter's syndrome

Yoshida¹,

Takao²,

Tsujimura³

et al. 2006

Int J of Urology

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A 38-year-old Japanese man was referred to our outpatient clinic for treatment of infertility. Semen analysis showed azoospermia. Chromosome analysis revealed a 47XXY karyotype, and non-mosaic Klinefelter's syndrome (KFS) was diagnosed. Upon physical examination, the patient's right testicular volume was 30 mL and the left testicular volume was 3 mL. Laboratory tests showed normal levels of lactate dehydrogenase, α-fetoprotein, and human chorionic gonadotropin β-subunit. The plasma luteinizing hormone and follicle-stimulating hormone levels were increased to 15.7 mIU/mL and 45.9 mIU/mL, respectively. The plasma testosterone was decreased to 0.25 ng/mL. Magnetic resonance imaging showed a right testicular mass of low-signal intensity on the T 1 -weighted image and of high-signal intensity on the T 2 -weighted image. Therefore, the final diagnosis was KFS with a right testicular tumor. Thus, a right high orchiectomy was performed. Histological examination revealed an epidermoid cyst of the right testis. Epidermoid cysts in cases of KFS are rare. To our knowledge, only seven cases, including ours, have been reported in the literature.

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Section: Discussionsupporting

confidence: 54%

Testicular epidermoid cyst in Klinefelter's syndrome

Yoshida¹,

Takao²,

Tsujimura³

et al. 2006

Int J of Urology

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“…In particular, abnormal sex chromosome patterns, usually in phenotypic females, are associated with dysgerminomas, histologically identical to the seminoma of the male (Scully, 1977). Seminoma itself has been reported in association with Klinefelter's syndrome (Isurugi et al, 1977). Associated congenital anomalies, or minor chromosomal aberrations, undiagnosed by present techniques, may be responsible for carcinogenesis in this case.…”

Section: Discussionmentioning

confidence: 72%

Seminoma in Marfan's syndrome

Epenetos¹,

Collis²

1979

Postgraduate Medical Journal

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“…However, Gohji et al reported that the most common histological types of EGCT associated with Klinefelter's syndrome were teratocarcinoma (32%) and choriocarcinoma (19%) 6 . Only three cases of seminomas in patients with Klinefelter's syndrome have been reported in the English language literature; two occurring in the testis and one in both the retroperitoneum and mediastinum 7–9 . To our knowledge, only one case of extragonadal seminoma in Klinefelter's syndrome has been reported, out of more than 40 cases of extragonadal germinal tumors associated with Klinefelter's syndrome 6,15–24 .…”

Section: Discussionmentioning

confidence: 84%

“…In particular, the association of breast cancer with Klinefelter's syndrome is well known, from a number of case reports 1,2 . The association of malignant germ cell tumor with Klinefelter's syndrome has also been established, but seminomas arising in Klinefelter's syndrome are extremely rare 7–9 . We report an unusual case of seminoma from the retrovesicular region, associated with Klinefelter's syndrome.…”

mentioning

confidence: 92%

“…

but seminomas arising in Klinefelter's syndrome are extremely rare. [7][8][9] We report an unusual case of seminoma from the retrovesicular region, associated with Klinefelter's syndrome.

CLINICAL SUMMARYA 39-year-old man was admitted to the Division of Urology, Fujisaki Hospital, Karatsu, Saga, Japan, with the chief complaint of dysuria on 3 August 1998. Rectal examination disclosed a large and hard mass of the prostate.

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mentioning

confidence: 99%

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Primary intrapelvic seminoma in Klinefelter's syndrome

Kurabayashi¹,

Furihata²,

Matsumoto³

et al. 2001

Pathology International

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Seminoma arising in patients with Klinefelter's syndrome is extremely rare; to our knowledge, only three cases have been reported in the English language literature. We report a case of intrapelvic seminoma in a 39-year-old man with Klinefelter's syndrome. Gross examination revealed that the tumor was a solid and irregular mass measuring 90 mm in diameter. The cut surfaces of this ill-defined tumor were yellow-white with necrotic foci. Histologically, the tumor cells were separated into lobules by branching, fibrous septa containing lymphocytes. In some parts of the tumor, a cord-like arrangement of tumor cells was present. Immunohistochemically, the tumor cells were strongly and diffusely positive for antiplacental alkaline phosphatase antibody along their cytoplasmic membranes, but negative for both chorionic gonadotrophin and alpha-fetoprotein. Based on these findings, we diagnosed this tumor as a seminoma. The testes when examined were found to be atrophic bilaterally, but with no tumor lesions. Chromosomal analysis yielded a 47XXY karyotype, compatible with Klinefelter's syndrome. These findings indicate a case of primary intrapelvic seminoma in Klinefelter's syndrome. The patient underwent intensive radiation therapy postoperatively, and he demonstrated no evidence of recurrence or metastasis during the 13-month period following surgery.

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Seminoma in Klinefelter's syndrome with 47 XXY, 15s+ karyotype

Cited by 35 publications

References 17 publications

Testicular epidermoid cyst in Klinefelter's syndrome

Testicular epidermoid cyst in Klinefelter's syndrome

Seminoma in Marfan's syndrome

Primary intrapelvic seminoma in Klinefelter's syndrome

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