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

Abstract

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.

Mesotheliomas in Children

“…14 Given the relatively nonspecific initial symptoms, patients occasionally receive an initial alternative diagnosis, including Whipple disease, tuberculosis, mesenteric lymphangioma, other malignancies, or an infectious/inflammatory peritoneal disease. In addition, 2 cases have been reported in which malignant peritoneal mesotheliomas in 2 teenage patients were clinically misdiagnosed as an autoinflammatory syndrome, 15 and inflammatory bowel disease, 16 respectively.…”

“…8 However, cases of mesothelioma associated with asbestos in young adults have been reported in the literature, starting with asbestos exposure between 6 and 11 years of age, with a latency period of 11 to 34 years before the development of the disease, resulting in only 3 pediatric cases with a possible association between asbestos exposure and mesothelioma, out of the > 300 pediatric cases reported in the literature. 15,19 In a series of 80 pediatric patients with mesothelioma, Fraire et al 10 reviewed possible risk factors and found only 4 children who had exposure to known risk factors (2 had a history of exposure to asbestos, 1 had received radiation therapy, and 1 was exposed to isoniazid in utero). Only 3 pediatric patients who had previous malignancies, including acute leukemia, nephroblastoma, and inflammatory myofibroblastic tumor, have been described.…”

“…One case of a 12-year-old-boy presenting with metastatic malignant peritoneal mesothelioma harboring a rearrangement involving the TERT gene secondary to a somatic t(4;5)(p13;p15.33) translocation has been described, in a patient who in addition had a heterozygous V-198-M mutation in the NLRP3 gene suspected to have an autoinflammatory syndrome. 15 Some studies have also shown somatic deletions of CDK2NA (p16) in 9p21. 17…”

“…Because of the long latency (estimated at 30 y) of the asbestos’ carcinogenic effects, mesothelioma is mainly a disease of adults, with a median age of ∼73 years in the United States 8. However, cases of mesothelioma associated with asbestos in young adults have been reported in the literature, starting with asbestos exposure between 6 and 11 years of age, with a latency period of 11 to 34 years before the development of the disease, resulting in only 3 pediatric cases with a possible association between asbestos exposure and mesothelioma, out of the >300 pediatric cases reported in the literature 15,19 In a series of 80 pediatric patients with mesothelioma, Fraire et al10 reviewed possible risk factors and found only 4 children who had exposure to known risk factors (2 had a history of exposure to asbestos, 1 had received radiation therapy, and 1 was exposed to isoniazid in utero).…”

“…In addition, 2 adolescent male patients (both 15 y of age) have been described with malignant mesotheliomas with similar epithelioid morphologic features harboring EWSR1::ATF1 gene rearrangements, one involving the mesentery and the second case involving the pericardium 27 Other molecular alterations: One case of a 12-year-old-boy presenting with metastatic malignant peritoneal mesothelioma harboring a rearrangement involving the TERT gene secondary to a somatic t(4;5)(p13;p15.33) translocation has been described, in a patient who in addition had a heterozygous V-198-M mutation in the NLRP3 gene suspected to have an autoinflammatory syndrome 15. Some studies have also shown somatic deletions of CDK2NA (p16) in 9p21 17…”