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CASE REPORT
Year : 2018  |  Volume : 11  |  Issue : 3  |  Page : 264-266  

Management of recurrent dysgerminoma arising in a dysgenetic gonad


Department of Obstetrics and Gynecology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Dr. D. Y. Patil Vidyapeeth, Pune, Maharashtra, India

Date of Web Publication29-Jun-2018

Correspondence Address:
Ami Mahendrasinh Gohil
Department of Obstetrics and Gynecology, Hospital and Research Centre, Dr. D. Y. Patil Medical College, Dr. D. Y. Patil Vidyapeeth, Pimpri, Pune, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/MJDRDYPU.MJDRDYPU_121_17

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  Abstract 


Gonadoblastomas are rare gonadal tumors, arising from a dysgenetic gonad with a Y chromosome. These tumors may manifest as dysgerminomas and if not appropriately managed can lead to disastrous consequences. 24 year female reported with lump in abdomen and abdominal pain on and off since 6 months and primary amenorrhoea. She underwent laparotomy with removal of an abdominal mass at a hospital 2 years back for similar complaints. Histopathology report of the mass read 'Dysgerminoma/Seminoma with both male and female elements'. Thereafter, patient was referred to a higher oncology centre for further management. 2 years hence she reported to us without any follow up in oncology centre as advised. On clinical and CT examination a diagnosis of recurrent tumor mass was made. Laparotomy revealed a non-resectable mass, whose biopsy report was Dysgerminoma. Patient was put on BEP regime. Second look laparotomy showed a significantly regressed necrotic mass with no evidence of residual malignancy. Till date she has shown no sign of recurrence of disease. Patients with dysgenetic gonads should be investigated judiciously and appropriately managed.

Keywords: Disorder of sexual development, dysgenetic gonad, dysgerminoma, gonadoblastoma


How to cite this article:
Bal H, Gohil AM, Nikhate S. Management of recurrent dysgerminoma arising in a dysgenetic gonad. Med J DY Patil Vidyapeeth 2018;11:264-6

How to cite this URL:
Bal H, Gohil AM, Nikhate S. Management of recurrent dysgerminoma arising in a dysgenetic gonad. Med J DY Patil Vidyapeeth [serial online] 2018 [cited 2019 Aug 25];11:264-6. Available from: http://www.mjdrdypv.org/text.asp?2018/11/3/264/235549




  Introduction Top


Gonadal dysgenesis is a congenital developmental disorder initiated by chromosomal abnormalities such as 45XO, 46XX, 46XY, or mosaicism. This results in progressive loss of germ cells from the gonads and may manifest as varying degrees of abnormalities often referred to as disorders of sexual development (DSD).[1] Such patients of DSD with XY gonadal dysgenesis are at increased risk of developing germ cell and sex cord-stromal tumors such as gonadoblastoma which may progress to malignancy in the form of dysgerminoma or seminoma. However, dysgerminomas can also arise de novo from Y containing dysgenetic gonads.[2],[3] These tumors if not appropriately managed can lead to disastrous consequences. We are reporting one such case which came to us with recurrence following primary management.


  Case Report Top


A 24-year-old phenotypic female patient reported to our outpatient department (OPD) with lump abdomen and pain off and on for the past 6 months. The patient was surgically treated at a hospital 2 years back when she had similar complaints alongwith primary amenorrhea.

The discharge documents of her previous hospitalization revealed the following facts:

  • MRI – a large heterogeneous lobulated mass in pelvis measuring 10 cm × 7 cm × 9 cm. Uterus, ovaries, and  Fallopian tube More Detailss not visualized
  • Karyotyping – 46XY
  • Laparotomy findings – A left-sided pelvic mass of 10 cm diameter seen, no uterus seen. On the right side, there was a vestigeal remnant resembling fallopian tube with streak ovary. The mass alongwith the vestigeal structures was removed
  • Histopathology – Tumor mass reported as dysgerminoma/seminoma. Vestigeal structure showed both male and female gonadal and genital tissues reported as follows:


    • Elements of epididymis and vas deferens with focal Leydig cell collection
    • Sections with ovarian tissue (stroma) and luteinized theca cells.


  • Referred to a higher oncology center for further management.


However, the patient did not report for follow-up in any center and 2 years later landed up at our OPD with above complaints.

On examination, it was seen that there was no breast development and thin, sparse sexual hair. Per-abdomen there was 26 weeks size solid abdominopelvic mass with an irregular surface and restricted mobility. External genitalia showed a blind vaginal pouch.

The patient was provisionally diagnosed as a case of recurrent germ cell tumor. On investigation, serum lactate dehydrogenase and beta-human chorionic gonadotropin were marginally raised with normal alpha-fetoprotein level. Contrast-enhanced computed tomography (CECT) pelvis showed a large retroperitoneal solid mass abutting on the left common iliac vein and artery with compression of the left ureter.

The patient was taken up for laparotomy. On opening the abdomen, the tumor was found to be encasing the left iliac vessels and adherent to the rectosigmoid junction [Figure 1]. Thus, a biopsy sample was obtained from the mass and further surgery abandoned. The histology of the tissue removed showed “dysgerminoma.”
Figure 1: Tumor mass during the first laparotomy

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The case was now referred to the Onco Physician who advised bleomycin, etoposide, cisplatin regime for 3 cycles. Bleomycin was given on day 1, 8, and 15 alongwith etoposide and cisplatin from day 1 to day 5 in each cycle.

Following 3 cycles of chemotherapy, the mass was no longer palpable per abdomen. CECT pelvis also reported a significantly reduced mass.

The patient was taken up for a repeat laparotomy which showed a significantly shrunken mass [Figure 2] adjacent to the left common iliac artery. A superficial debulking of the residual mass was done, and specimen sent for histopathology which revealed necrotic material and no evidence of malignancy.
Figure 2: Tumour mass during second laparotomy postchemotherapy

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Thereafter, patient was treated with another 2 cycles of just etoposide and cisplatin over a period of 21 days. Patient was discharged after completion of chemotherapy. [Table 1] shows that the results before and after treatment were highly satisfying.
Table 1: Comparison of parameters before and after chemotherapy

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The patient was asymptomatic on follow-up 4 weeks later and tumor markers were within the normal limits, and CECT pelvis did not show any evidence of tumor.


  Discussion Top


Gonadoblastomas, first described by Scully in 1953, are rare benign tumors arising exclusively in dysgenetic gonads having a Y chromosome and have the potential for malignant transformation.[4] The karyotype of these tumors is usually 46XY, 45X/46XY, or 45XO with the molecular presence of Y chromosome (gonadoblastoma locus on the Y chromosome). However, rare cases with normal 46XX karyotype have also been reported. Nearly 80% gonadoblastomas arise in phenotypic females.[5] Histologically, gonadoblastomas have both germinal and stromal cells. When the germinal content predominates, the neoplasm becomes locally infiltrative and subsequently malignant. In 50%–60% of cases gonadoblastomas present as malignant germ cell tumors, mostly as pure dysgerminoma.[6] Approximately 5% of dysgerminomas are discovered in phenotypic women with abnormal gonads.[7] Cases with androgen insensitivity, Swyer syndrome and ovotesticular disorders run the risk of developing gonadoblastomas.[8] To prevent the development of malignancy in patients with XY gonadal dysgenesis, gonadectomy is recommended, however if progressed to malignant forms the patient should be treated appropriately with surgery alongwith adjuvant chemotherapy where required.[9]

In the present case, there was no histological report to suggest gonadoblastoma as the primary tumor. Therefore, we consider it to be a dysgerminoma arising de novo in a dysgenetic gonad.

The histopathology report of the initial laparotomy showed the presence of both male and female gonadal tissues (epididymal, vas deferens and Leydig cell elements alongwith ovarian stroma and thecal cells) in the vestigial/streak adnexal structure removed from the right side. This finding is an indicator that our case could be an ovotesticular disorder. Ovotesticular DSD is a rare condition characterized by mixed ovarian and testicular tissue. Majority of patients have a 46XX karyotype. About 7% of patients may have a 46XY karyotype.[10] Usually, both Müllerian and Wolffian internal structures are present and internal genital structures often correspond to the adjacent gonad. Whereas most have a vagina, the uterus can be normal and functional, hypoplastic, vestigeal, or altogether absent.[11] External genitalia development depends on the level of androgen production and exposure to it. Hence, the phenotype can vary widely.


  Conclusion Top


Here, we have highlighted the management of a case of recurrent dysgerminoma resulting from suboptimal primary management. This was primarily a case of DSD with 46XY pattern who had developed a dysgerminoma of the dysgenetic gonad. The basic purpose was to bring to light that patients with DSD should be investigated thoroughly including karyotyping. If it shows a Y chromosome component, prophylactic gonadectomy should be carried out to prevent the development of malignant germ cell tumors. In case these tumors do develop, they should be appropriately managed surgically followed by chemotherapy where required to prevent compromised outcomes. DSD with all its complications is a concern not only for the individual but also the family and the society at large.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Lee PA, Houk CP, Ahmed SF, Hughes IA, International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. Consensus statement on management of intersex disorders. International consensus conference on intersex. Pediatrics 2006;118:e488-500.  Back to cited text no. 1
    
2.
Giwercman A, Berthelsen JG, Müller J, von der Maase H, Skakkebaek NE. Screening for carcinoma-in-situ of the testis. Int J Androl 1987;10:173-80.  Back to cited text no. 2
    
3.
Verp MS, Simpson JL. Abnormal sexual differentiation and neoplasia. Cancer Genet Cytogenet 1987;25:191-218.  Back to cited text no. 3
    
4.
Scully RE. Gonadoblastoma; a gonadal tumor related to the dysgerminoma (seminoma) and capable of sex-hormone production. Cancer 1953;6:455-63.  Back to cited text no. 4
    
5.
Lau YF, Li Y, Kido T. Gonadoblastoma locus and the TSPY gene on the human Y chromosome. Birth Defects Res C Embryo Today 2009;87:114-22.  Back to cited text no. 5
    
6.
Esin S, Baser E, Kucukozkan T, Magden HA. Ovarian gonadoblastoma with dysgerminoma in a 15-year-old girl with 46, XX karyotype: Case report and review of the literature. Arch Gynecol Obstet 2012;285:447-51.  Back to cited text no. 6
    
7.
Obata NH, Nakashima N, Kawai M, Kikkawa F, Mamba S, Tomoda Y, et al. Gonadoblastoma with dysgerminoma in one ovary and gonadoblastoma with dysgerminoma and yolk sac tumor in the contralateral ovary in a girl with 46XX karyotype. Gynecol Oncol 1995;58:124-8.  Back to cited text no. 7
    
8.
Simpson JL, Genetics of sexual differentiation. In: Rock JA, Carpenter SE, editors. Pediatic and Adolescent Gynecology. New York: Raven Press; 1992. p. 1-37.  Back to cited text no. 8
    
9.
Cools M, Drop SL, Wolffenbuttel KP, Oosterhuis JW, Looijenga LH. Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers. Endocr Rev 2006;27:468-84.  Back to cited text no. 9
    
10.
Griffin JE. Androgen resistance – The clinical and molecular spectrum. N Engl J Med 1992;326:611-8.  Back to cited text no. 10
    
11.
Minto CL, Liao KL, Conway GS, Creighton SM. Sexual function in women with complete androgen insensitivity syndrome. Fertil Steril 2003;80:157-64.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2]
 
 
    Tables

  [Table 1]



 

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