| Autor: |
Pimkwan Jaru-ampornpan, M.D., Chottiwat Tansirisithikul, M.D., Manachaya Prukajorn, M.D., Somponnat Sampattavanich, Ph.D., Manop Pithukpakorn, M.D. |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
American Journal of Ophthalmology Case Reports, Vol 23, Iss , Pp 101189- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2451-9936 |
| DOI: |
10.1016/j.ajoc.2021.101189 |
| Popis: |
Purpose: To report a case of aggressive infantile orbital embryonal rhabdomyosarcoma harboring germline ATM mutation and 2 somatic mutations as revealed by next-generation sequencing and the potential application for personalized therapy. Observations: A 7-month-old male developed a rapidly progressive left proptosis over 6 weeks due to a large medial orbital mass. Biopsy revealed embryonal rhabdomyosarcoma. After the first cycle of chemotherapy, re-imaging showed interval tumor enlargement with intracranial extension. Craniotomy, combined with orbital exenteration, was performed. Tumor specimens and blood samples were sent for 596 gene DNA sequencing panels with RNA-sequencing focused on actionable mutations as well as gene fusion detection. Sequencing revealed 3 clinically relevant mutations: a germline ATM loss-of-function (LOF) mutation, a somatic PIK3CA gain-of-function mutation, and a somatic BCOR LOF mutation. No chromosomal translocation was detected. Workup for metastasis was positive for bone marrow involvement. Despite standard high-dose adjuvant chemotherapy in combination with radiation therapy, the patient died 10 months later with metastatic diseases. Conclusions and importance: This case highlights an aggressive form of embryonal rhabdomyosarcoma in an infantile orbit. The presence of germline mutation may explain the increased chemo-resistance and adverse prognosis, and may be used as the target for genomic-directed therapy. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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