A synchronous occurrence of bifocal intracranial germinoma and bilateral testicular epidermoid cyst in an adolescent patient with Klinefelter’s syndrome

Klinefelter syndrome (KS) is characterized by an additional X chromosome inmales leading to a karyotype of 47,XXY. It is associated with an increased riskof certain malignancies, including leukemia, breast cancer and extragonadalgerm cell tumor such as mediastinal germ cell tumors and rarely intracranialgerm cell tumors. It is possible that the increased risk of developing certaincancers can be attributed to a direct effect of the chromosomal abnormality orthe combined action of the abnormal chromosomes and hormonal imbalances.Here we describe a synchronous occurrence of bifocal intracranial germinomaand bilateral testicular epidermoid cyst in an adolescent patient withKlinefelter’s syndrome. The synchronous occurrence of the dual tumors inthis patient with Klinefelter’s syndrome might be resulted from the migrationdefect during embriyogenesis due to underlying genetic disease or it is acoincidental condition, yet there has been no case reported in the literature,so far.

___

1. Aizer AA, Sethi RV, Hedley-Whyte ET, et al. Bifocal intracranial tumors of nongerminomatous germ cell etiology: Diagnostic and therapeutic implications. Neuro Oncol 2013; 15: 955-960.

2. Calaminus G, Kortmann R, Worch J, et al. SIOP CNS GCT 96: Final report of outcome of a prospective, multinational nonrandomized trial for children and adults with intracranial germinoma, comparing craniospinal irradiation alone with chemotherapy followed by focal primary site irradiation for patients with localized disease. Neuro Oncol 2013; 15: 788- 796.

3. Khatua S, Dhall G, O'Neil S, et al. Treatment of primary CNS germinomatous germ cell tumors with chemotherapy prior to reduced dose whole ventricular and local boost irradiation. Pediatr Blood Cancer 2010; 55: 42-46.

4. Shah KH, Maxted WC, Chun B. Epidermoid cysts of the testis: A report of three cases and an analysis of 141 cases from the world literature. Cancer 1981; 47: 577-582.

5. Yoshida T, Takao T, Tsujimura A, Tomita H, Aozasa K, Okuyama A. Testicular epidermoid cyst in Klinefelter's syndrome. Int J Urol 2006; 13: 478-480.

6. Calaminus G, Frappaz D, Kortmann RD, et al. Outcome of patients with intracranial nongerminomatous germ cell tumors-lessons from the SIOP-CNS-GCT-96 trial. Neuro Oncol 2017; 19: 1661-1672.

7. Aoyama H, Shirato H, Kakuto Y, et al. Pathologicallyproven intracranial germinoma treated with radiation therapy. Radiother Oncol 1998; 47: 201-205.

8. Davis S, Howell S, Wilson R, et al. Advances in the Interdisciplinary Care of Children with Klinefelter syndrome. Adv Pediatr 2016; 63: 15-46.

9. Queipo G, Aguirre D, Nieto K, et al. Intracranial germ cell tumors: Association with Klinefelter syndrome and sex chromosome aneuploidies. Cytogenet Genome Res 2008; 121: 211-214.

10. Schneider DT, Calaminus G, Koch S, et al. Epidemiologic analysis of 1,442 children and adolescents registered in the German germ cell tumor protocols. Pediatr Blood Cancer 2004; 42: 169-175.

11. Lynch HT, Kaplan AR, Lynch JF. Klinefelter syndrome and cancer. A family study. JAMA 1974; 229: 809-811.

12. Oki S, Nakao K, Kuno S, Imura H. A case of Klinefelter's syndrome associated with hypothalamicpituitary dysfunction caused by an intracranial germ cell tumor. Endocrinol Jpn 1987; 34: 145-151.

13. Prall JA, McGavran L, Greffe BS, Partington MD. Intracranial malignant germ cell tumor and the Klinefelter syndrome. Case report and review of the literature. Pediatr Neurosurg 1995; 23: 219-224.

14. Swerdlow AJ, Schoemaker MJ, Higgins CD, Wright AF, Jacobs PA; UK Clinical Cytogenetics Group. Cancer incidence and mortality in men with Klinefelter syndrome: A cohort study. J Nat Cancer Inst 2005; 97: 1204-1210.

15. Ahagon A, Yoshida Y, Kusuno K, Uno T. Suprasellar germinoma in association with Klinefelter's syndrome. Case report. J Neurosurg 1983; 58: 136- 138.

16. Alapont Alacreu JM, Dominguez Hinarejos C, Serrano Durba A, et al. Bilateral testicular epidermoid cyst in a pediatric patient with Klinefelter syndrome. Actas Urol Esp 2003; 27: 742-744.

17. Sasagawa I, Nakada T, Kazama T, Sakamoto M, Satomi S, Katayama T. Epidermoid cyst of the testis in Klinefelter's syndrome. Urol Int 1987; 42: 398-400.

18. Trentini GP, Maiorana A, De Benedittis A. Metachronous seminoma of the pineal region and right testis. Case report. Appl Pathol 1985; 3: 129- 133.
Turkish Journal of Pediatrics-Cover
  • ISSN: 0041-4301
  • Yayın Aralığı: 6
  • Başlangıç: 1958
  • Yayıncı: Hacettepe Üniversitesi Çocuk Sağlığı Enstitüsü Müdürlüğü
Sayıdaki Diğer Makaleler

A novel evaluation of genetic polymorphism in BCG adenitis

Maryam HASSANZAD, Poupak FARNİA, Sepideh DAROUGAR, Ali Akbar VELAYATİ

Atypical phenotype of an old disease or typical phenotype of a new disease: deficiency of adenosine deaminase 2

Mustafa ÇAKAN, Nuray Aktay AYAZ, Şerife Gül KARADAĞ, Eda Tahir TURANLI, Kelsey STAFSTROM, Wayne BAİNTER, Raif S. GEHA, Janet CHOU

Excision of the atrial Wilms’ tumor thrombus without sternotomy, atriotomy and cardiovascular By-pass

Ali TEKİN, İsmail YAĞMUR, Orkan ERGÜN, Mehmet Fatih AYIK, Yüksel ATAY, İbrahim ULMAN, Ali AVANOĞLU

Perforation of Meckel’s diverticulum in a very low birth weight neonate with severe pneumoperitoneum and review of literature

Yu jiao WANG, Ting WANG, Shun lin XİA, You cheng ZHANG, Wei bing CHEN, Bing LI

The effects of enteral artificial amniotic fluid-containing erythropoietin on short term outcomes of preterm infants

Mohammadbagher HOSSEİNİ, Hamid AZAMPOUR, Sina RAEİSİ, Meysam BEHTARİ, Hadi VALIZADEH, Roya SABOOHİ

Outcome of allogeneic Hematopoietic Stem Cell Transplantation on Diamond-Blackfan anemia using busulfan-based myeloablative regimen

Maryam BEHFAR, Lili KOOCHAKZADEH, Nafise YAZDANİAN, Pourya SALAJEGHEH, Tahereh ROSTAMİ, Nazanin Khodayari NAMİNİ, Ardeshir GHAVAMZADEH, Amir Ali HAMİDİEH

Infant lymphoblastic leukemia: a single centers 10 year experience

İnci Yaman BAJİN, Selin AYTAÇ, Barış KUŞKONMAZ, Duygu Uçkan ÇETİNKAYA, Şule ÜNAL, Fatma GÜMRÜK, Mualla ÇETİN

IPEX syndrome: an easily-missed diagnosis of a life threatening condition

Abeer ALASSAF, Rasha ODEH

Comparison of neonatal reference intervals for 23 biochemical analytes in the cord blood-A single center study in South Korea

Seong Jin CHOİ, Saejin LEE, Byoungkook LEE, Jae Yun JANG, Jooyoung CHO, Young UH

Exercise-induced anaphylaxis: a case report and review of the literature

Saliha Esenboğa, Bülent Enis Şekerel