MYCN Amplified Relapse Following Resolution of MYCN Nonamplified 4S Neuroblastoma With Placental Involvement: A Case Report and Review of the Literature

Abstract

Congenital neuroblastoma with placental involvement is exceptionally rare, but mortality is high. Detailed examination of placenta including MYCN amplification and segmental chromosomal aberrations should be performed in all suspected cases, as it is noninvasive and readily available. Maternal dissemination has not been reported. In this manuscript, we describe an infant with placental diagnosis of MYCN nonamplified congenital neuroblastoma. This is the first report of a recurrence of congenital 4S neuroblastoma following resolution in which MYCN amplification is only detected in the recurrence. Germline sequencing using a large comprehensive cancer panel did not reveal variants in candidate cancer predisposition genes.

Revisiting the role of radiotherapy in the treatment of neuroblastoma 4S: 30 years of institutional experience and systematic review

“… All patients survived Steele et al (2013) [46] 1 1 1 day 800 cGy in 5 fractions 1 of 1 patient (100 %) survived for 1 year Liver cirrhosis and portal hypertension on day 40 of life – need a liver transplant. All patients survived Muftakhova et al (2015) [34] 4 4 2 months 450–600 cGy in 3–4 fractions 3 of 4 patients (75 %) survived for 1 year or longer Not reported No response to treatment – 1 patient (after 1 month) Doré et al (2015) [23] 1 0 12 days 600 cGy in 4 fractions 1 of 1 patient (100 %) survived for 1 year Not observed All patients survived Langenberg-Ververgaert et al (2019) [33] 1 1 36 weeks 450 cGy in 2 fractions 1 of 1 patient (100 %) survived for 1 year At 20 months of age, the patient developed a recurrence in the right adrenal region. All patients survived Tas et al (2020) [12] 6 5 4 months Not specified 5 of 6 patients (83 %) survived for 13 years or longer Not reported Progressive disease – 1 patient (after 22 months) Montalto et al (2022) [47] 1 0 18 days Not specified 1 of 1 patient (100 %) survived for 21 years Not reported All patients survived …”

“…In current practice, a total dose of 450–600 cGy is considered the standard of care, allowing for effective treatment while minimizing toxicity and completing the treatment within 2 weeks, which is crucial given the life-threatening nature of hepatomegaly [23] , [33] , [34] . Our institutional experience supports the effectiveness of such doses without significant early or late toxicity, and this is consistent with findings from previous literature, which reported no severe toxicity following low doses of radiotherapy.…”