An in-utero presentation of trilateral retinoblastoma

Case Report:

A 36-year-old pregnant female with an otherwise uneventful pregnancy was noted to have an elevated a-fetoprotein level of 2.68 multiple of the mean on routine second trimester labs. She declined an amniocentesis and was instead monitored with repeated ultrasounds which were normal until a 37-week ultrasound identified a brain lesion. (Fig 1A) An urgent C-section was performed, and a female infant was delivered without complications. Magnetic Resonance Imaging (MRI) brain on day of delivery was notable for a 3.2 × 2.8 × 2.2 cm suprasellar mass compressing the brainstem, pons, right temporal lobe and optic chiasm. (Fig 1B) The infant was initially monitored with serial ultrasounds until 1 month of age when ultrasound indicated increasing size of the suprasellar mass with a new dorsal cyst. She underwent cyst aspiration and tumor biopsy around 2 months of age; pathology was consistent with a primitive neuroectodermal tumor. Immediately post-biopsy ptosis on the left developed and an ophthalmology consult revealed bilateral retinoblastoma, so the child was referred to MSKCC. Our initial exam under anesthesia at 2 months of age revealed bilateral retinoblastoma. The right eye (Fig 1C) was Reese-Ellsworth Group Ia, International Classification of Retinoblastoma/COG Version Group B and the left eye (Fig 1D) was Reese-Ellsworth group IIIa, (ICRB) Group B.The patient was treated with 4 cycles of induction systemic chemotherapy followed by consolidation chemotherapy and autologous stem cell transplant. All lesions in each eye were also treated with transpupillary thermotherapy and cryotherapy was applied to the nasal tumor in the left eye. The patient has been in remission for more than six years and retained both eyes. All research adhered to the tenets of the Declaration of Helsinki, and the participant’s guardian provided informed consent.

Figure 1.

A, Ultrasound image obtained at 37 weeks showing a brain lesion. B, Magnetic resonance imaging of the brain obtained on the day of delivery showing a 3.2 x 2.8 x 2.2-cm suprasellar mass compressing the brainstem, pons, right temporal lobe, and optic chiasm. C, Fundus photograph of right eye. D, Fundus photograph of left eye.

Discussion:

Trilateral retinoblastoma is a rare disease phenomenon characterized by development of a midline intracranial neuroectodermal tumor in the pineal gland or suprasellar area in patients with germline, unilateral or bilateral retinoblastoma. A recent meta-analysis reported an incidence of 3.8% in patients with bilateral retinoblastoma¹ with a median age of diagnosis of trilateral retinoblastoma at 26 months.^2,3 Ninety-five percent are diagnosed before the age of 40 months and 20% were diagnosed at or before 1 year of age.² At Memorial Sloan Kettering Cancer Center almost half of all trilateral retinoblastomas were detected before the diagnosis of retinoblastoma⁴ but intrauterine detection of trilateral retinoblastoma has not been previously reported and six year survival for trilateral patients is unusual.

Conclusion:

The midline brain tumor associated with retinoblastoma can be detected in utero with elevated a-fetoprotein levels, ultrasound, or magnetic resonance imaging and before the diagnosis of retinoblastoma is known or even suspected.