A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp
Summary:. Neurofibromatosis type 1 is an autosomal dominant disorder predisposing patients to plexiform neurofibromas, benign tumors with an 8%–13% lifetime risk of malignant transformation into malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are aggressive sarcomas with poor prognosis. We...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer
2025-08-01
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| Series: | Plastic and Reconstructive Surgery, Global Open |
| Online Access: | http://journals.lww.com/prsgo/fulltext/10.1097/GOX.0000000000007024 |
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| author | Athena Zhang, MD Brandon Boyarsky, BS Theodore S. Hyman, MD Arhana Chattopadhyay, MD AeRang Kim, MD, PhD Liara S. Ortiz-Ocasio, BS Albert K. Oh, MD Gary F. Rogers, MD, JD, LLM, MBA, MPH |
| author_facet | Athena Zhang, MD Brandon Boyarsky, BS Theodore S. Hyman, MD Arhana Chattopadhyay, MD AeRang Kim, MD, PhD Liara S. Ortiz-Ocasio, BS Albert K. Oh, MD Gary F. Rogers, MD, JD, LLM, MBA, MPH |
| author_sort | Athena Zhang, MD |
| collection | DOAJ |
| description | Summary:. Neurofibromatosis type 1 is an autosomal dominant disorder predisposing patients to plexiform neurofibromas, benign tumors with an 8%–13% lifetime risk of malignant transformation into malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are aggressive sarcomas with poor prognosis. We present the case of a 13-year-old neurofibromatosis type 1 patient with a large, pedunculated, scalp plexiform neurofibroma who underwent subtotal surgical excision to improve her appearance and ability to wear hats. The patient was treated preoperatively with selumetinib for size reduction, and the procedure was bloody. Pathology revealed that the neurofibroma had an intralesional high-grade MPNST. Margin status for the malignant component was inconclusive. Immunohistochemistry revealed loss of H3K27me3 expression, indicative of aggressive tumor biology. The patient underwent adjuvant chemotherapy followed by a re-excision of the surgical site, which showed no residual tumor. |
| format | Article |
| id | doaj-art-5e56b47ab44448aaa4233fb002f49b1e |
| institution | Kabale University |
| issn | 2169-7574 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | Wolters Kluwer |
| record_format | Article |
| series | Plastic and Reconstructive Surgery, Global Open |
| spelling | doaj-art-5e56b47ab44448aaa4233fb002f49b1e2025-08-26T03:24:29ZengWolters KluwerPlastic and Reconstructive Surgery, Global Open2169-75742025-08-01138e702410.1097/GOX.0000000000007024202508000-00005A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the ScalpAthena Zhang, MD0Brandon Boyarsky, BS1Theodore S. Hyman, MD2Arhana Chattopadhyay, MD3AeRang Kim, MD, PhD4Liara S. Ortiz-Ocasio, BS5Albert K. Oh, MD6Gary F. Rogers, MD, JD, LLM, MBA, MPH7From the * Department of Plastic and Reconstructive Surgery, Children’s National Hospital, Washington, DCFrom the * Department of Plastic and Reconstructive Surgery, Children’s National Hospital, Washington, DCFrom the * Department of Plastic and Reconstructive Surgery, Children’s National Hospital, Washington, DCFrom the * Department of Plastic and Reconstructive Surgery, Children’s National Hospital, Washington, DC† Department of Pediatric Hematology Oncology, Children’s National Hospital, Washington, DC.From the * Department of Plastic and Reconstructive Surgery, Children’s National Hospital, Washington, DCFrom the * Department of Plastic and Reconstructive Surgery, Children’s National Hospital, Washington, DCFrom the * Department of Plastic and Reconstructive Surgery, Children’s National Hospital, Washington, DCSummary:. Neurofibromatosis type 1 is an autosomal dominant disorder predisposing patients to plexiform neurofibromas, benign tumors with an 8%–13% lifetime risk of malignant transformation into malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs are aggressive sarcomas with poor prognosis. We present the case of a 13-year-old neurofibromatosis type 1 patient with a large, pedunculated, scalp plexiform neurofibroma who underwent subtotal surgical excision to improve her appearance and ability to wear hats. The patient was treated preoperatively with selumetinib for size reduction, and the procedure was bloody. Pathology revealed that the neurofibroma had an intralesional high-grade MPNST. Margin status for the malignant component was inconclusive. Immunohistochemistry revealed loss of H3K27me3 expression, indicative of aggressive tumor biology. The patient underwent adjuvant chemotherapy followed by a re-excision of the surgical site, which showed no residual tumor.http://journals.lww.com/prsgo/fulltext/10.1097/GOX.0000000000007024 |
| spellingShingle | Athena Zhang, MD Brandon Boyarsky, BS Theodore S. Hyman, MD Arhana Chattopadhyay, MD AeRang Kim, MD, PhD Liara S. Ortiz-Ocasio, BS Albert K. Oh, MD Gary F. Rogers, MD, JD, LLM, MBA, MPH A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp Plastic and Reconstructive Surgery, Global Open |
| title | A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp |
| title_full | A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp |
| title_fullStr | A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp |
| title_full_unstemmed | A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp |
| title_short | A Pediatric Case of Neurofibromatosis Type 1–Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp |
| title_sort | pediatric case of neurofibromatosis type 1 associated malignant peripheral nerve sheath tumor of the scalp |
| url | http://journals.lww.com/prsgo/fulltext/10.1097/GOX.0000000000007024 |
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