Extrusion of a Vaginal Mass in a Six-Month-Old Female

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A six-month-old female with no significant past medical history presented with an acute vaginal bleed and gelatinous, protruding vaginal mass found during a diaper change. There was no reported genitourinary abnormalities, presiding hematuria, or sexual abuse; furthermore, no personal or family history of easy bruising or bleeding.  Of note, the patient's aunt had been diagnosed with pineoblastoma at age twenty-six.

Physical Examination Findings: 

The patient's physical exam revealed a healthy appearing infant with a soft, hemorrhagic mass protruding from the vaginal introitus and light vaginal bleeding. Upon further examination, the vulva, urethra, and patent anus were anatomically normal; no signs of sexual abuse. The patient's sexual maturity rating of breast and pubic development was stage one. 

HR 152 | BP 91/54 | RR 42 | SpO2 99 % | Temp 97.4 °F (36.3 °C)

Laboratory & Diagnostic Imaging: 

Abdominal magnetic resonance imaging revealed a large, complex pelvic mass arising from the uterus measuring 9.5 x 3.7 x 5.0 cm (SI, AP, TR) with mass effect on surrounding organs.  No other abnormalities were noted in the chest, abdomen, or pelvis. 

Laboratory workup included complete blood count with differential, complete metabolic panel, and coagulation panel all found to be within normal limits. The patient was noted to have a uric acid of 2.6 mg/dl, alpha-fetoprotein of 37.6 ng/dl, and lactate dehydrogenase of 384 U/L.  

Final Diagnosis:

The initial pathology taken on admission was suggestive of germ cell tumor with malignant elements similar to a yolk sac tumor, likely Stage III.  As the diagnostic pathology was deemed uncertain, tissue samples were sent to multiple pathologists along the east coast of the United States.  About a month from initial presentation, the patient acutely extruded the complex mass effectively re-staging her pelvic malignancy.  On vaginoscopy, the patient had no signs of cervical irregularities thus suggesting a malignancy arising from the vaginal canal.  After extensive evaluation, molecular genetic testing revealed a DICER-1 mutation with pathology consistent with embryonal rhabdomyosarcoma. 

Discussion : 

DICER-1 mutation is a loss of function germline mutation that predisposes one to uncommon malignancies such as pleuropulmonary blastoma, ovarian malignancy, Wilms tumor, and others.  Although the DICER-1 mutation inheritance is autosomal dominant, there can be variable penetrance - thus, the discovery of this mutation should prompt familial surveillance for malignancy. For this particular case, molecular genetic testing uncovered the DICER -1 mutation in both the patient's aunt and sister. The latter was subsequently found to have a right cystic lung lesion concerning for pleuropulmonary blastoma. This case highlights the diagnostic complexity of medical conundrums and the need to test for the DICER-1 mutation in distinguishing malignancies as well as familial surveillance.  

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Inova Children's Hospital
INOVA Children’s Hospital
Inova Children's Hospital

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