Journal of Cancer Research and Therapeutics

: 2015  |  Volume : 11  |  Issue : 3  |  Page : 654-

Cervical embryonal rhabdomyosarcoma and ovarian Sertoli-Leydig cell tumor with congenital absence of unilateral ovary

Rubu Sunku1, Rajan Duggal2, Firuza D Patel1, Bhavana Rai1, Radhika Srinivasan2, Raje Nijhawan2,  
1 Department of Radiotherapy and Oncology, PGIMER, Chandigarh, India
2 Department of Cytology and Gynecological Pathology, PGIMER, Chandigarh, India

Correspondence Address:
Bhavana Rai
Department of Radiotherapy and Oncology, PGIMER, Chandigarh - 160 012


We report this first case of synchronous cervical rhabdomyosarcoma and Sertoli-Leydig cell tumor (SLCT) of ovary with congenital absence of unilateral ovary and fallopian tube in a 16-year-old female patient. A review of the English-language literature identified only six cases of double malignancies with cervical rhabdomyosarcoma and SLCT but none of the case was associated with congenital absence of ovary and fallopian tube. When such multiple conditions involving one system occur in an individual, the possibility of single etiology arises, but beside some hypothesis, no definite link could be established in any of the cases reported.

How to cite this article:
Sunku R, Duggal R, Patel FD, Rai B, Srinivasan R, Nijhawan R. Cervical embryonal rhabdomyosarcoma and ovarian Sertoli-Leydig cell tumor with congenital absence of unilateral ovary.J Can Res Ther 2015;11:654-654

How to cite this URL:
Sunku R, Duggal R, Patel FD, Rai B, Srinivasan R, Nijhawan R. Cervical embryonal rhabdomyosarcoma and ovarian Sertoli-Leydig cell tumor with congenital absence of unilateral ovary. J Can Res Ther [serial online] 2015 [cited 2020 Mar 29 ];11:654-654
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Occurrence of double primary malignancies is not a rare entity. Prevalence of multiple primary malignancies is in between 0.73% to 11.7%. [1] Most of the second malignancies are by chance but when two rare tumors occur in the same individual, a suspicion of association rather than coincidence is raised. [2]

Genitourinary tract is a common site for rhabdomyosarcoma, but cervix is relatively rare site which is mainly discussed in context of case reports and case series. [3] Another rare tumor is Sertoli-Leydig cell tumor (SLCT) of ovary, accounting for 0.2-0.5% of ovarian tumors. [4],[5] Occurrence of these two malignancies in the same individual is extremely rare. Literature search showed only 6 cases with both these malignancies but none of the case was seen in association with congenital absence of unilateral ovary.


The present case report is about a 16-year-old female patient who was referred to us with history of polymenorrhea and mass per vagina, for which she had undergone cervical polypectomy. Histopathology report showed rhabdomyosarcoma, following which she was referred to our institute for further management. Histopathological review of the polypectomy specimen at our institute showed polypoidal lesion with a tumor in subepithelium. The tumor cells were ovoid to spindly with hyperchromatic nuclei and showed many mitotic figures [Figure 1]. A cambium layer of tumor cells was identified. The tumor was positive for desmin [inset [Figure 1] and for myogenin and a diagnosis of embryonal rhabdomyosarcoma was confirmed.{Figure 1}

At presentation in our institute, she had complained of amenorrhea since last 3 months following polypectomy. On clinical examination, she had no evidence of the disease. On further evaluation, magnetic resonance imaging (MRI) showed a large pelvic mass of 13 × 9 × 10 cm in left adnexa. Ultrasound guided fine-needle aspiration cytology was taken, which indicated possibility of sarcoma. With these findings, the patient was taken up for exploratory laparotomy. Intra-operatively a large left adnexal mass of 15 cm with intact capsule was found and surgeon also noticed that right ovary and fallopian tube was missing. In view of benign look of ovarian cyst and absent right ovary, a left ovarian cystectomy was carried out. The histopathologic examination of the specimen showed a SLCT of intermediate differentiation. There was a focal tubular and cord-like pattern along with many areas showing predominantly diffuse arrangement of spindle shaped cells representing the sarcomatoid areas [Figure 2]b-d. In the better differentiated areas which constituted 15% of the entire tumor, the cellular aggregates were composed of cords and solid tubules of Sertoli cells with interspersed Leydig cells. Increase in mitosis was noted (>10 mitosis/10 high-power fields) in the spindle shaped tumor cells. Immunohistochemically tumor cells were strongly positive for inhibin and negative for cytokeratin, desmin and myogenin confirming the sex-cord origin of the neoplasm as well as excluding metastatic sarcoma. Patient was re-admitted and planned for total abdominal hysterectomy with left salpingo-oophorectomy and omentectomy with peritoneal washings. The post-operative histopathological examination showed follicular cyst in the remaining left ovary and sections studied from the omentum, left fallopian tube, cervix, endometrium and myometrium were all free of tumor.{Figure 2}

After surgery, the patient received adjuvant chemotherapy consisting of vincristine, adriamycin and cyclophosphamide for six cycles. Patient was kept on regular follow-up after chemotherapy. At 5 years of follow up, the patient had no evidence of disease clinically and MRI showed no recurrence.


To the best of our knowledge, this is the first case where two uncommon gynecological malignancies along with congenital unilateral absence of ovary and fallopian tube have been reported in a single individual.

Genitourinary tract is a common site for rhabdomyosarcomas accounting for 25% of cases. [3] Approximately 3% of rhabdomyosarcomas are of uterine or vaginal origin but incidence of cervical rhabdomyosarcoma is only 1/5 times that of vaginal rhabdomyosarcoma. [6] Cervical rhabdomyosarcomas usually occurs in older age group, in contrast to vaginal rhabdomyosarcomas. [3] Immunohistochemically, desmin, myogenin and MyoD1 is considered as standard tool for confirmation of diagnosis. [7]

SLCT of ovary is another rare tumor in which patient presents with virilization, amenorrhea and abdominal mass. SLCT can affect age group ranging from 2 to 75 years, with average age of 25 years. [5] Morphologically, intermediate differentiation is the most common subtype accounting for 54% of all SLCT. [4] Immuno-histochemically, the neoplastic cells stains positive for calretinin, inhibin, CD56, WT-1 and CK 8/18. [5] In current study inhibin was used for confirmation of diagnosis.

Till date, only six cases has been reported where cervical rhabdomyosarcoma and SLCT occurred in an individual, either synchronously or metachronously [Table 1]. Daya and Scully in 1988 reported 13 cases of cervical rhabdomyosarcoma in patients with age ranged from 12 to 26 years, with mean age of 18 years. Two of the cases aged 15 and 23 years developed SLCT at 18 and 24 years respectively. [3] Golbang et al. in their study reported a case of sarcomatoid botryoid tumor cervix in a 14-year-old female patient, who developed SLCT 13 year later. Golbang for the 1 st time speculated the possibility of association between these two tumors but no hypothesis was drawn. [8] The fourth case was reported by McClean et al. in a 13-year-old girl who presented with cervical rhabdomyosracoma and SLCT synchronously. The authors suggested chromosome 12 as a possible linkage which was found to be abnormal in both embryonal rhabdomyosarcoma and SLCT. [2] Dehner et al. in their study have reported 14 cases of rhabdomyosarcoma cervix, one of which was also found to have SLCT of ovary and a multinodular goiter. Another patient with pleuropulmonary blastoma was diagnosed to have DICER 1 germline mutation in this study. The authors speculated the possibility of familial pleuropulmonary tumor predisposition syndrome in the patient with neoplasm in the cervix, ovary and thyroid. [9] Rosenberg reported a case of a 20-year-old girl with cervical rhabdomyosarcoma and SLCT. [10]{Table 1}

In IRS (IV) result, patients with local or regional embryonal rhabdomyosarcoma fared better with surgery plus chemotherapy. [11] Treatment of SLCT of ovary stage IA is unilateral oophorectomy. [4] Out of six reported cases only two cases had synchronous presentation. In the case reported by McClean, the patient was treated by avulsion of cervical polyp and salpingo-ophorectomy only and did not have significant follow-up while in a case reported by Dehner, the patient also received VAC chemotherapy and patient had recurrent SLCT after 7 years. [2],[9]

Congenital unilateral absence of ovary and fallopian tube is a rare anomaly. Sivanesaratnam reported incidence of ovarian agenesis as one in every 11,241 women (0.0089%). [12] It is usually asymptomatic, detected during evaluation for infertility or some other abdominal or genitourinary complains.


To the best of our knowledge, this is first case where cervical rhabdomyosarcoma and SLCT of ovary has been reported in association with congenital unilateral absence of ovary and fallopian tube in single individual. Occurrence of such rare entities in one individual suggests the possibility some genetic association, but besides some hypothesis no causal gene is identified till now.


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