Metastatic Malignant Peritoneal Mesothelioma Mimicking an Autoinflammatory Syndrome in a 12-Year-Old Boy

A case of a malignant peritoneal mesothelioma mimicking an autoinflammatory syndrome in a 12-year-old boy is reported. The patient initially presented with lymphadenopathy and weight loss but without abdominal pain. Three things confounded the initial diagnosis: a positive test result for a gene rel...

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Bibliographic Details
Published in:Pediatric and developmental pathology 2021-09, Vol.24 (5), p.478-483
Main Authors: Olmedilla, Gabriel, Undaondo, Clara, Vasquez, Wenceslao, Rodriguez, Nuria
Format: Article
Language:English
Subjects:
Biomarkers, Tumor - genetics
Biopsy
Child
Clavicle
Cryopyrin-Associated Periodic Syndromes - diagnosis
Diagnosis, Differential
Humans
Lymph Nodes - pathology
Male
Mesothelioma, Malignant - diagnosis
Mesothelioma, Malignant - genetics
Mesothelioma, Malignant - pathology
Peritoneal Neoplasms - diagnosis
Peritoneal Neoplasms - genetics
Peritoneal Neoplasms - pathology
Promoter Regions, Genetic
Telomerase - genetics
Translocation, Genetic
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Summary:A case of a malignant peritoneal mesothelioma mimicking an autoinflammatory syndrome in a 12-year-old boy is reported. The patient initially presented with lymphadenopathy and weight loss but without abdominal pain. Three things confounded the initial diagnosis: a positive test result for a gene related to cryopyrin-associated periodic syndrome, a positive response to the autoinflammatory syndrome treatment, and a lymph node biopsy which showed “hyperplastic mesothelial cells in the lymph sinuses.” His symptoms relapsed several years later, and a peritoneal biopsy confirmed the final diagnosis. Complete morphological, immunohistochemical, and molecular diagnoses are described. A translocation in the TERT gene involving the truncation of the promoter was found in the mesothelioma. The translocation has never been described in mesotheliomas and is of an unknown significance.
ISSN:1093-5266
1615-5742
DOI:10.1177/10935266211008438