TERT promotor region rearrangements analyzed in high-risk neuroblastomas by FISH method and whole genome sequencing

Kawashima, Masumi; Ueda, Yuka; Kurihara, Sho; Hiyama, Eiso

doi:10.1007/s10147-020-01773-z

Cited by 1 publication

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References 28 publications

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“…A different TERT promoter translocation, chromosome 5 to chromosome 22 has been described in neuroblastomas. 28 We believe this case is a malignant metastatic peritoneal mesothelioma mimicking an autoinflammatory syndrome from the beginning of the disease. In both situations the clinical and PET scan findings were the same, with hypercaptation in lymph nodes and peritoneum.…”

Section: Discussionmentioning

confidence: 79%

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

et al. 2021

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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.

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Section: Discussionmentioning

confidence: 79%

“…A different TERT promoter translocation, chromosome 5 to chromosome 22 has been described in neuroblastomas. 28…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2021

View full text Add to dashboard Cite

show abstract

TERT promotor region rearrangements analyzed in high-risk neuroblastomas by FISH method and whole genome sequencing

Cited by 1 publication

References 28 publications

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

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

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