Lipofibromatosis-like neural tumors (LPF-NTs) are locally aggressive soft tissue tumors that have only recently been documented. Typically, LPF-NTs exhibit a fascicular arrangement and invasive growth patterns similar to those seen in lipofibromatosis. However, these tumor cells are positive for both S100 and CD34 immunohistochemical markers, and they characteristically exhibit neurotrophic tropomyosin receptor kinase 1 (NTRK1) gene rearrangement. This section analyzes the histopathological features of a case of LPF-NT that was initially misdiagnosed as dermatofibrosarcoma protuberans of the skin. Additionally, it reviews relevant literature to discuss the pathogenesis, diagnosis, and differential diagnosis of LPF-NT, aiming to enhance understanding of the disease among clinicians and pathologists.

An unintentionally discovered painless mass on the back, has persisted for more than 4 years.

A 29-year-old female was admitted to the hospital for surgical treatment on June 10, 2023, more than 4 years after finding a painless mass on her back. There was no redness, swelling, pain, skin rupture, tenderness, or any other symptoms of discomfort.

The patient had no previous medical history.

The patient denied any family history of malignant tumors.

Physical examination revealed a subcutaneous mass on the right side of the back, approximately 1.5 cm in diameter, protruding into the skin, with a clear boundary and no tenderness.

No abnormalities were detected in routine blood and urine analyses.

The patient did not undergo imaging examinations as the tumor was superficial.

Surgical treatment was conducted on June 10, 2023, under local anesthesia. During the operation, a subcutaneous mass was completely excised following a pre-marked line after lidocaine injection. The subcutaneous and skin tissues were sutured. The surgery was successful with effective anesthesia, and the intraoperative bleeding volume was approximately 1 ml. A nodular mass measuring 1.4 × 1.3 × 1.0 cm was removed, characterized by a pale section with irregular borders.

After the diagnosis, the patient underwent an extended resection, with a ten-day gap between the initial and subsequent surgeries. Intraoperative rapid freezing diagnosis confirmed negative margins for the peripheral and basal incisions. The wound healed well, with no evidence of recurrences or distant metastases during the initial three months and the subsequent 11 months of follow-up.

The histological morphology of LPF-NTs overlaps with that of dermatofibrosarcoma protuberans. The dual expression of S100 and CD34 in immunohistochemistry should raise strong suspicion of lipofibromatosis-like neural tumors, and NTRK gene testing can be a valuable tool for differential diagnosis. Herein, we report a case of an adult LPF-NT that was initially misdiagnosed as dermatofibrosarcoma protuberans of the skin due to the rarity of LPF-NT case reports and limited understanding of its clinicopathological features. Recognizing the clinicopathological features among clinicians and pathologists is pertinent for accurate differential diagnosis.

The original contributions presented in the study are included in the article/Supplementary Material, further inquiries can be directed to the corresponding author.

The studies involving humans were approved by Affiliated Dongyang Hospital of Wenzhou Medical University. The studies were conducted in accordance with the local legislation and institutional requirements. The participants provided their written informed consent to participate in this study. Written informed consent was obtained from the individual(s) for the publication of any potentially identifiable images or data included in this article.

XZ: Conceptualization, Data curation, Formal Analysis, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing. CY: Conceptualization, Formal Analysis, Methodology, Supervision, Writing – original draft, Writing – review & editing. TX: Conceptualization, Data curation, Formal Analysis, Methodology, Project administration, Writing – original draft, Writing – review & editing. JY: Conceptualization, Data curation, Formal Analysis, Investigation, Methodology, Project administration, Resources, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing.

The author(s) declare that no financial support was received for the research, authorship, and/or publication of this article.

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

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CD34, cluster of differentiation 34; LPF-NTs, lipofibromatosis-like neural tumors; Rb, retinoblastoma gene; NTRK1, neurotrophic tyrosine receptor kinase 1; SOX-10, SRY-box transcription factor 10; SMA, smooth muscle actin; EMA, epithelial membrane antigen.