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Immature ovarian teratoma in childhood: Case report of successful management of a monster mass in a preschool girl

ABSTRACT:

Introduction

Ovarian teratomas are most common germ cell neoplasms. Immature ovarian teratoma comprises less than 1% of all ovarian teratomas. It usually occurs in first two decades of life.

Case presentation

We report a case of 4 years old female child presenting with pain and huge lump in lower abdomen. On abdominal ultrasonography, it revealed a solid-cystic pelvic lesion arising from left ovary. Magnetic resonance imaging (MRI) corroborated the ultrasonographic findings. She underwent laparotomy with right oophorectomy with excision of the mass. The histopathological examination of the excised mass confirmed it to be immature ovarian teratoma with yolk sac tumor. The patient had an uneventful recovery with no sign of tumor recurrence at a one and a half year follow-up.

Conclusion

In spite of immature ovarian teratomas having aggressive behaviour and lethal outcome, a high degree of suspicion and timely management can translate into a very good eventual prognosis. Highlights • In ovarian mass, patient usually presents with non-specific complaints but a high degree of suspicion and imaging is very important for diagnostic work up.• Now-a-days tumor markers have also proved to be an important tool for screening the patients of ovarian mass.• Early diagnosis and management do reduce the risk of complications like torsion, rupture, hydroureteronephrosis and gastrointestinal obstruction.• It also reduces the probability of metastasis and hence improves event-free and overall survival of the patient.

SUBMITTER: Kajal P

PROVIDER: S-EPMC9283807 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Mature ovarian teratoma is considered to be a parthenogenetic tumor that arises from a single oocyte/ovum. Conversely, complete hydatidiform mole (CHM) is androgenetic in origin: classic CHM arises from a single or two sperm. Since mature ovarian teratoma and CHM have only maternal and paternal genomes, respectively, their genome imprinting is theoretically reverse, but this has yet to be investigated. Genome imprinting in struma ovarii, a special form of mature teratoma, remains unclear. Although a mature teratoma can rarely arise in extragonadal sites, its genome imprinting, as well as cell origin, is poorly understood. One of the most important mechanisms of genome imprinting is DNA methylation. To investigate the methylation profile of imprinted genes, we performed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) of 21 imprinting control region (ICRs) of 9 imprinted genes/gene clusters in formalin-fixed, paraffin-embedded samples obtained from 12 mature ovarian teratomas, 6 struma ovarii, 10 CHMs, and 7 extragonadal (1 sacrococcygeal, 6 mediastinal) mature teratomas of females. In mature ovarian teratomas, ICRs of maternally and paternally imprinted genes showed high and low levels of methylation, respectively, and this pattern was almost reverse in CHMs. In CHMs, however, some ICRs showed aberrant methylation. The methylation profile of struma ovarii was comparable to that of mature ovarian teratomas, except for an adenomatous tumor. In extragonadal mature teratomas, the methylation pattern was somatic or irregular. In conclusion, mature ovarian teratomas/struma ovarii, CHMs, and extragonadal mature teratomas showed distinct methylation profiles of imprinted genes. Ovarian teratomas and CHMs are most likely to inherit their methylation profiles from their ancestral germ cells, although some aberrant methylation suggests a relaxation of imprinting in CHMs and a subset of struma ovarii. Extragonadal mature teratomas may carry a methylation profile of misplaced primordial germ cells or possibly somatic cells that have been reprogrammed in vivo.