CASE REPORT

Vaginal Yolk Sac Tumor in an Infant Muhammad Waqas1, Saba Nafees Malik2, Durre Shohab1, Naima Tariq1, Ijaz Hussain1 and Yasir Iqbal1

ABSTRACT Yolk sac tumors are most common tumors among the germ cell tumors (GCTs) in children, mostly involving the gonads. But yolk sac tumors involving the vagina are very rare. These usually present with per vaginal bleeding and vaginal mass. Presentation with discharged tumor fragments is very unusual. We present a rare case of yolk sac tumor of vagina in an infant with very unusual presentation of per vaginal tumor tissue discharge, histopathological examination of which was diagnostic.

Key Words: Yolk sac tumor. Tumor fragment. Vagina.

INTRODUCTION Pediatric germ cell tumors (GCTs) are relatively uncommon tumors. Eighty percent of them are benign and only 20% are malignant, which account for 2 to 3% of all pediatric malignant tumors.1 Yolk sac tumors also known as endodermal sinus tumors form the most common histological type of GCTs in children.1,2 Mostly these are found in gonads but in 20% of patients they are extragonadal.3 Vagina is a very rare site for the occurrence of yolk sac tumor with only a few case reports in literature. It is highly malignant and mostly found in children less than 3 years of age.4 We report a case of yolk sac tumor in vagina in a female infant of 3 months of age with very unusual presentation of per vaginal discharge of tumor tissue. To the best of our knowledge, this is the first case report from Pakistan. Figure 1: Individual tumor cells are large, bizarre with hyper chromatic nuclei. Rare hyaline globules are also seen.

CASE REPORT and renal function tests were normal. Alpha Fetoprotein A 3-month female child presented with history of per (AFP) level was 570 ng/ml (normal: range 0.89-8.78 vaginal discharge of brownish fluid intermittently since ng/ml). CT scan chest, abdomen, and pelvis with and birth. She passed small thick jelly-like material per without contrast showed 2.7 x 2 x 2.5 cm, lobulated, soft vagina. Microscopic examination of which showed large tissue density mass in vagina compressing rectum cells with hyper chromatic, bizarre nuclei and marked posteriorly and urinary bladder anteriorly. We planned to pleomorphism (Figure 1). There was abundant give four cycles of chemotherapy and then evaluation for cytoplasm and scattered mitotic figures. Cells were possible surgery. She was started on chemotherapy with positive for SALL4 and AFP and negative for HCG and Bleomycin, Etoposide and Cisplatin. She completed CD30 (Figure 2). Diagnosis of yolk sac tumor was made. three cycles of neo adjuvant chemotherapy without any She was born at 39 weeks of gestation with lower complications. AFP came down to 7.82 ng/ml. As father segment caesarean section. Physical examination was of the patient was resident of United States, parents unremarkable. Complete blood count, serum electrolytes, decided to have last cycle of chemotherapy in United States. 1 Department of Urology, Shifa International Hospital, Sector H-8/4, Islamabad. 2 Rawal Institute of Medical Sciences, Islamabad. DISCUSSION Correspondence: Dr. Muhammad Waqas, Department of Yolk sac tumor, also known as endodermal sinus tumor, Urology, Shifa International Hospital, Pitras Bukhari Road, is a highly malignant germ cell tumor, mostly involving Sector H-8/4, Islamabad. the gonads.1,3 Extragonadal location is less common, E-mail: [email protected] and it is proposed to be due to the lost germ cells during Received: April 06, 2016; Accepted: April 24, 2017. migration from yolk sac to gonads.4

S112 Journal of the College of Physicians and Surgeons Pakistan 2017, Vol. 27 (Special Supplement 2 of Case Reports): S112-S113 Vaginal yolk sac tumor in an infant

Conservative surgery and chemotherapy is the recommended treatment.4 But considering it as highly chemo sensitive, there are case reports of successful treatment with only chemotherapy treatment.2,7 It preserves the reproductive organs of the patient.6 In this case, the infant passed tumor tissue per vagina. Histopathological and immunochemistry features of which were diagnostic. This is very unusual presentation. Shinkoda et al. reported a similar case of yolk sac tumor of vagina presenting with passage of tumor fragment per vagina.8 We suggest that any female child presenting with bloody discharge from vagina should be evaluated at least with AFP and imaging studies.

REFERENCES 1. Cecchetto G. Gonadal germ cell tumors in children and adolescents. J Indian Assoc Pediatr Surg 2014; 19:189-94. 2. Deshmukh C, Bakshi A, Bhagwat R, Kurkure P. Yolk sac tumor of vagina. Indian J Pediatr 2005; 72:367. 3. Kataria SP, Misra K, Singh G, Kumar S. Cytological findings of an extragonadal yolk sac tumor presenting at an unusual site. J Cytol 2015; 32:62-4. 4. Alhumidi A, Shaikh SA, Alhammadi A. Yolk sac tumor of vagina: a case report. Int J Clin Exp Pathol 2015; 8:2183-5. Figure 1: Immunohistochemistry. 5. Mahzouni P, Pejhan S, AshrafiM. Yolk sac tumor of the vagina. Yolk sac tumor of vagina is a very rare entity described Saudi Med J 2007; 28:1125-6. in literature as a few case reports. It is exclusively found 6. Chauhan S, Nigam JS, Singh P, Misra V, Thakur B. Endodermal in children of less than 03 years of age.2,4 Usual sinus tumor of vagina in infants. Rare Tumors 2013; 5:83-4. presentation is per-vaginal bleeding and mass in 7. Lacy J, Capra M, Allen L. Endodermal sinus tumor of the infant 2,4 vagina. It is often confused with sarcoma buteroids vagina treated exclusively with chemotherapy. J Pediat Hematol 2 due to their similar presentation. Only histological Oncol 2006; 28:768-71. features can differentiate them from each other.2 8. Shinkoda Y. Successful treatment of an endodermal sinus AFP is mostly elevated and indicates the volume of tumor of the vagina by chemotherapy alone: A rare case tumor. It is used as marker for monitoring treatment and of an infant diagnosed by pathological examination of recurrence of tumor.5,6 Immunohistochemically, these discharged tumor fragment. J Pediat Hematol Oncol 2006; 23: tumors are positive for AFP.4 563-9.

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