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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2020
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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. |
format | Online Article Text |
id | pubmed-7374179 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
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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