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Metachronous intramedullary anaplastic astrocytoma and liposarcoma complicated by neurofibromatosis type 1: A family history analysis

1 Department of Internal Medicine, National Taiwan University Hospital, Hsin-Chu Branch, Hsin-Chu, Taiwan
2 Department of Radiation Oncology, Chi Mei Medical Center, Liouying, Tainan, Taiwan
3 Department of Pathology, Chi Mei Medical Center, Liouying, Tainan, Taiwan
4 Department of Radiation Oncology, Chi Mei Medical Center, Liouying; Department of Radiation Oncology, Chi Mei Medical Center; Graduate Institute of Medical Sciences, Chang Jung Christian University, Tainan, Taiwan

Correspondence Address:
Sheng-Yow Ho,
Department of Radiation Oncology, Chi Mei Medical Center, 901 Zhonghua Road. Yongkang Dist, Tainan 71004
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmedsci.jmedsci_194_22

Neurofibromatosis type 1 (NF1) is one of the most frequently encountered familial tumor syndromes. NF1 patients are highly prone to have multiple nervous system tumors, with an increased risk for various nonnervous mesenchymal or neuroendocrine tumor developments. This is an NF1 patient who developed two different unusual tumors: an intramedullary anaplastic astrocytoma of the thoracic spine and myxoid liposarcoma of the lower limb. The family members were carefully investigated as per the NF1 diagnostic criteria. A strong cutaneous NF1 penetrance was found in 6 of the 14 family members in four successive generations, two of whom had NF1 and developed breast cancer and bilateral optic gliomas. The NF1 tumor syndrome highlights a wide-ranging tumor spectrum, and clinicians should keep an eye on tumor surveillance and encourage medical counseling, and long-term NF1 family follow-up is warranted for prophylactic warning.


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