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Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis
Published on: September 7, 2021
(Neonatal) retinoblastoma in the first month of life
David H Abramson1, Ted T Du, Katherine L Beaverson
1Robert M. Ellsworth Ophthalmic Oncology Center, New York Presbyterian Hospital-Weill Cornell Medical College, NY, USA. ICancerMD@aol.com
Insights
Retinoblastoma diagnosed in infants under one month old often presents with family history as the primary sign. Radiation therapy significantly increases the risk of secondary nonocular cancers, highlighting crucial treatment considerations.
Area of Science:
- Ophthalmology
- Pediatric Oncology
- Genetics
Background:
- Retinoblastoma is a rare eye cancer primarily affecting young children.
- Early diagnosis and treatment are critical for ocular and patient survival.
- Understanding long-term outcomes, including secondary cancers, is essential for comprehensive care.
Purpose of the Study:
- To identify retinoblastoma patients diagnosed at or before one month of age.
- To describe the clinical features, ocular survival, and patient survival in this cohort.
- To analyze the development of second nonocular tumors in relation to treatment.
Main Methods:
- Retrospective study of 1831 patients.
- Identification of 46 patients diagnosed with retinoblastoma by one month of age.
- Kaplan-Meier method used for analyzing the cumulative incidence of second cancer development.
Main Results:
- Family history (67%) was the most common presenting sign, preceding leukocoria (13%).
- Radiation therapy was associated with a 54% incidence of second nonocular cancers by 23.7 years; no second cancers occurred in non-irradiated patients.
- Despite early diagnosis, metastatic disease and death occurred in 8.7% of patients, with some metastases present at birth.
Conclusions:
- Family history is the most frequent indicator for retinoblastoma in neonates.
- Subsequent ocular tumors exhibit a centrifugal growth pattern.
- Radiation therapy is a significant risk factor for developing secondary nonocular cancers in retinoblastoma survivors.
Objectives:
To identify patients with retinoblastoma whose conditions were diagnosed at the age of 1 month or younger and to describe their clinical features (including ocular and patient survival) and the development of second nonocular tumors.
Materials And Methods:
A retrospective study of 1831 patients. The cumulative incidence of second cancer development was analyzed using the Kaplan-Meier method.
Results:
Forty-six patients were identified as having a diagnosis of retinoblastoma at the age of 1 month or younger (mean age, 18.5 days). Family history (31 patients [67%]) exceeded leukocoria (6 patients [13%]) as the most common reason for detection. Twenty-six (56%) of the 46 patients were seen with unilateral retinoblastoma, with 22 ultimately developing cancer in the fellow eye. At the initial diagnosis, 81 (85%) of the 95 tumors were detected in zones 1 and 2. Eighty-two (93%) of the 88 subsequent tumors were located in zones 2 and 3. In the 26 patients who had unilateral retinoblastoma, 16 of the initially affected eyes and 21 of the fellow eyes were salvaged. In the 19 (44%) of 20 patients who were seen initially with bilateral retinoblastomas, 31 (82%) of the 38 eyes were salvaged. The mean follow-up was 10.9 years. The incidence of second nonocular cancers reached 54% by 23.7 years for the patients who received radiation therapy, while the incidence was 0% for the patients who did not. Four (8.7%) of the 46 patients developed metastatic disease and died; 3 of these patients had documented metastases in the first month of life (one at birth).
Conclusions:
The most common manifesting sign of children diagnosed as having retinoblastoma in the first month of life is family history. Eyes with Reese-Ellsworth group I retinoblastomas were the most common. In patients with bilateral and unilateral retinoblastoma, new (subsequent) ocular tumors developed in a centrifugal pattern. Despite an early diagnosis, patients' eyes came to enucleation, and metastatic disease and death occurred from ocular metastases. In patients who received radiation therapy, the probability of developing second nonocular cancer is 54% by 23.7 years; no second cancers developed in patients who did not receive radiation therapy.
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