Retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1 - a case report

Sep 23, 2026

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Malignant peripheral nerve sheath tumors (MPNSTs) are rare, aggressive sarcomas often linked to neurofibromatosis type 1 (NF1), with poor outcomes driven by recurrence and metastasis. A 30-year-old woman developed a retroperitoneal MPNST with metastases to the right pelvic wall and left rectus femoris muscle. Dense café au lait spots supported NF1, while limited gynecologic ultrasonography initially suggested an adnexal origin. Extensive invasion prevented clear-margin curative resection; surgery enabled only palliative tumor removal, and histology with immunohistochemistry confirmed MPNST. Prognosis is uncertain due to short follow-up, emphasizing diagnostic and multidisciplinary challenges when complete resection is not feasible.

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Abstract

Case presentation

Patient information

Clinical findings

Qian et al. BMC Surgery (2026) 26:115 [https://doi.org/10.1186/s12893-026-03495-x](https://doi.org/10.1186/s12893-026-03495-x) BMC Surgery CASE REPORT Open Access Retroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1: a case report Luchuang Qian1*, Xiaoming Ye1 and Jing Sun2 Abstract Malignant peripheral nerve sheath tumors (MPNSTs) are rare, aggressive sarcomas originating from peripheral nerves or nerve sheath cells. They are often associated with neurofibromatosis type 1 (NF1) and have a poor prognosis due to high rates of recurrence and metastasis. We report a case of a 30-year-old female presenting with a retroperitoneal MPNST accompanied by metastases to the right pelvic wall and left rectus femoris muscle. The patient exhibited numerous café au lait spots densely distributed across the head, neck, trunk, and extremities, consistent with clinical features of NF1 . Due to the limitations of gynecological ultrasonography, the mass was initially considered to originate from the adnexal region. Surgical interventions included exploratory laparotomy, partial colectomy, partial rectal resection, retroperitoneal neoplasms resection, and colostomy; however, only palliative resection was possible due to the tumor’s extensive invasion and inability to achieve clear margins. Histopathological examination, supported by immunohistochemical findings, confirmed the diagnosis of MPNST. Given the palliative nature of surgery and the short postoperative follow-up, the clinical outcome remains uncertain. This case highlights the diagnostic challenges of retroperitoneal MPNST, particularly in patients with NF1, and underscores the importance of early recognition and multidisciplinary management when curative resection isnot achievable. Keywords Malignant peripheral nerve sheath tumors, Neurofibromatosis type 1, Case report, Prognosis, Retroperitoneal neoplasms Malignant peripheral nerve sheath tumor (MPNST) is a rare and aggressive soft tissue sarcoma, accounting for approximately 5–10% of all sarcomas, with an estimated incidence of 1 per 100,000 individuals [1]. Nearly 50% of cases occur in patients with neurofibromatosis type 1 (NF1), in whom the risk of malignant transformation *Correspondence: Luchuang Qian [qianluchuang@126.com](qianluchuang@126.com) 1Department of Anorectal Surgery, Ningbo Yinzhou No. 2 Hospital, Ningbo City, Zhejiang Province 315192, China 2Department of Gynecology, Ningbo Yinzhou No. 2 Hospital, Ningbo City, Zhejiang Province 315192, China from preexisting nerve sheath lesions is substantially increased [2]. Histologically, MPNSTs are characterized by high-grade spindle cell morphology and marked biological heterogeneity. MPNSTs most commonly arise in the trunk and extremities, whereas retroperitoneal involvement is exceedingly uncommon [3, 4]. Tumors in this location often present with nonspecific symptoms and imaging findings that overlap with gynecologic or gastrointestinal malignancies, posing significant diagnostic challenges [5–7]. In young female patients, retroperitoneal masses adjacent to the adnexa may reasonably be considered of gynecologic origin, particularly when initial evaluation © The Author(s) 2026. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the art

FAQs

What are malignant peripheral nerve sheath tumors and why are they difficult to treat?

MPNSTs are rare, aggressive sarcomas originating from peripheral nerves or nerve sheath cells. They have a poor prognosis due to high rates of recurrence and metastasis.

How does neurofibromatosis type 1 relate to MPNST risk?

Nearly half of MPNST cases occur in patients with NF1. NF1 increases the risk of malignant transformation from preexisting nerve sheath lesions.

Why was curative surgery not achievable in this case report?

The tumor extensively invaded surrounding tissues, making it impossible to achieve clear surgical margins. The patient therefore underwent palliative resection rather than curative removal.

Sep 23, 2026

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