Case Report of Concomitant Pleuropulmonary Blastoma and Hepatoblastoma in a 25-Month-Old Child With a Germline <i>DICER1</i> Pathogenic Variant

Pleuropulmonary blastoma and hepatoblastoma are 2 well-recognized embryonal tumors of the thorax and liver respectively occurring in children. The simultaneous presentation of 2 or more pediatric embryonal tumors in the same patient is extremely rare. Specifically, cases of concomitant pleuropulmonary blastoma and hepatoblastoma in the same patient are extremely rare with only a single clinical case report published thus far. We report a case of a 25-month-old boy presenting with concomitant pleuropulmonary blastoma and hepatoblastoma, and describe the clinical, imaging, and histopathological findings. We additionally describe the underlying <i>DICER1</i> alterations in both tumors. This is the first case described in Vietnam and only the second such case reported globally.

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Publication Details

Journal
Pediatric and Developmental Pathology
Published
2026-01-22
DOI
https://doi.org/10.1177/10935266251413978
Primary Topic
Congenital Diaphragmatic Hernia Studies
Type
article
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article

Case Report of Concomitant Pleuropulmonary Blastoma and Hepatoblastoma in a 25-Month-Old Child With a Germline DICER1 Pathogenic Variant

Jian Yuan Goh, Lan N. Bui, Thach Ngoc Hoang, Diep Hong Pho et al.
Pediatric and Developmental Pathology
Congenital Diaphragmatic Hernia Studies
article

Case Report of Concomitant Pleuropulmonary Blastoma and Hepatoblastoma in a 25-Month-Old Child With a Germline DICER1 Pathogenic Variant

Jian Yuan Goh, Lan N. Bui, Thach Ngoc Hoang, Diep Hong Pho, Kenneth Tou En Chang, Ngoc Thi Kim Le
article en

Abstract

Pleuropulmonary blastoma and hepatoblastoma are 2 well-recognized embryonal tumors of the thorax and liver respectively occurring in children. The simultaneous presentation of 2 or more pediatric embryonal tumors in the same patient is extremely rare. Specifically, cases of concomitant pleuropulmonary blastoma and hepatoblastoma in the same patient are extremely rare with only a single clinical case report published thus far. We report a case of a 25-month-old boy presenting with concomitant pleuropulmonary blastoma and hepatoblastoma, and describe the clinical, imaging, and histopathological findings. We additionally describe the underlying <i>DICER1</i> alterations in both tumors. This is the first case described in Vietnam and only the second such case reported globally.

Pediatric and Developmental Pathology
KK Women's and Children's Hospital (SG), Duke-NUS Medical School (SG), Vietnam National Children's Hospital (VN)
Good health and well-being
Openalex Percentile: Top 81%
Congenital Diaphragmatic Hernia Studies
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