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Bone metastasis of retinoblastoma five years after primary treatment

PURPOSE: Histopathological, immunohistochemistry- and molecular pathology-based diagnostics to distinguish metastasis of retinoblastoma from subsequent primary malignancy in patients with heritable retinoblastoma. OBSERVATIONS: An eight year-old girl presented with tibial pain and bone lesion five y...

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Autores principales: Ting, Saskia C., Kiefer, Tobias, Ehlert, Karoline, Goericke, Sophia L., Hinze, Raoul, Ketteler, Petra, Bechrakis, Nikolaos E., Schildhaus, Hans-Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374179/
https://www.ncbi.nlm.nih.gov/pubmed/32715161
http://dx.doi.org/10.1016/j.ajoc.2020.100834
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author Ting, Saskia C.
Kiefer, Tobias
Ehlert, Karoline
Goericke, Sophia L.
Hinze, Raoul
Ketteler, Petra
Bechrakis, Nikolaos E.
Schildhaus, Hans-Ulrich
author_facet Ting, Saskia C.
Kiefer, Tobias
Ehlert, Karoline
Goericke, Sophia L.
Hinze, Raoul
Ketteler, Petra
Bechrakis, Nikolaos E.
Schildhaus, Hans-Ulrich
author_sort Ting, Saskia C.
collection PubMed
description PURPOSE: Histopathological, immunohistochemistry- and molecular pathology-based diagnostics to distinguish metastasis of retinoblastoma from subsequent primary malignancy in patients with heritable retinoblastoma. OBSERVATIONS: An eight year-old girl presented with tibial pain and bone lesion five years after multimodal treatment of bilateral retinoblastoma, initially clinically suspicious of osteomyelitis. Histopathological examination of bone biopsy specimen revealed a highly proliferative small blue round cell tumor mimicking Ewing's sarcoma of bone. Immunohistochemistry confirmed the diagnosis of a distant metastasis of the previous retinoblastoma. Other subsequent primary malignancies presenting as small blue round cell tumors, such as sarcomas or leukemia, were excluded by immunohistochemistry and molecular methods. CONCLUSIONS AND IMPORTANCE: In countries with early diagnosis of retinoblastoma, distant metastases of retinoblastoma are extremely rare, whereas subsequent primary malignancies are common in survivors of heritable retinoblastoma. Immunohistochemistry and molecular pathology are essential components of diagnostic pathway. In retinoblastoma patients, distant metastases including osseous lesions should be included in the differential diagnosis of small blue round cell tumors.
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spelling pubmed-73741792020-07-23 Bone metastasis of retinoblastoma five years after primary treatment Ting, Saskia C. Kiefer, Tobias Ehlert, Karoline Goericke, Sophia L. Hinze, Raoul Ketteler, Petra Bechrakis, Nikolaos E. Schildhaus, Hans-Ulrich Am J Ophthalmol Case Rep Case Report PURPOSE: Histopathological, immunohistochemistry- and molecular pathology-based diagnostics to distinguish metastasis of retinoblastoma from subsequent primary malignancy in patients with heritable retinoblastoma. OBSERVATIONS: An eight year-old girl presented with tibial pain and bone lesion five years after multimodal treatment of bilateral retinoblastoma, initially clinically suspicious of osteomyelitis. Histopathological examination of bone biopsy specimen revealed a highly proliferative small blue round cell tumor mimicking Ewing's sarcoma of bone. Immunohistochemistry confirmed the diagnosis of a distant metastasis of the previous retinoblastoma. Other subsequent primary malignancies presenting as small blue round cell tumors, such as sarcomas or leukemia, were excluded by immunohistochemistry and molecular methods. CONCLUSIONS AND IMPORTANCE: In countries with early diagnosis of retinoblastoma, distant metastases of retinoblastoma are extremely rare, whereas subsequent primary malignancies are common in survivors of heritable retinoblastoma. Immunohistochemistry and molecular pathology are essential components of diagnostic pathway. In retinoblastoma patients, distant metastases including osseous lesions should be included in the differential diagnosis of small blue round cell tumors. Elsevier 2020-07-17 /pmc/articles/PMC7374179/ /pubmed/32715161 http://dx.doi.org/10.1016/j.ajoc.2020.100834 Text en © 2020 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ting, Saskia C.
Kiefer, Tobias
Ehlert, Karoline
Goericke, Sophia L.
Hinze, Raoul
Ketteler, Petra
Bechrakis, Nikolaos E.
Schildhaus, Hans-Ulrich
Bone metastasis of retinoblastoma five years after primary treatment
title Bone metastasis of retinoblastoma five years after primary treatment
title_full Bone metastasis of retinoblastoma five years after primary treatment
title_fullStr Bone metastasis of retinoblastoma five years after primary treatment
title_full_unstemmed Bone metastasis of retinoblastoma five years after primary treatment
title_short Bone metastasis of retinoblastoma five years after primary treatment
title_sort bone metastasis of retinoblastoma five years after primary treatment
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7374179/
https://www.ncbi.nlm.nih.gov/pubmed/32715161
http://dx.doi.org/10.1016/j.ajoc.2020.100834
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