lipofibromatosis-like neural tumor

Lipofibromatosis-like Neural Tumor (LPF-NT): A Rare Soft Tissue Tumor

Lipofibromatosis-like neural tumor (LPF-NT) is a rare soft tissue tumor that has been recently identified. It is characterized by a cellular arrangement of spindle cells, often with an infiltrative growth pattern [2][3]. The tumor typically occurs in the subcutis, which is the layer of fatty tissue just beneath the skin [5].

Histological Features

LPF-NTs are histologically similar to lipofibromatosis tumors, but with distinct differences. They often exhibit a streaming or fascicular arrangement of spindle cells, and may contain areas of myxoid degeneration [2][3]. The tumor cells typically express NTRK1 fusion genes, which is a hallmark of this rare entity [7].

Clinical Behavior

LPF-NTs are locally aggressive tumors with a relatively high rate of local recurrence if incompletely excised. They can occur in any age group, but are most commonly seen in adults [4]. The standard treatment for LPF-NTs is surgical excision, and current standard of care therapy includes chemotherapy and targeted therapy [8].

Incidence

As of mid-2021, at least 39 cases of LPF-NT have been reported in the literature. This rare tumor accounts for a small fraction of all soft tissue tumors, but its incidence is increasing as more cases are being identified [4].

References:

[1] Agaram et al (2016) - First description of LPF-NT [2] Bartenstein et al (2018) - Histological features of LPF-NT [3] Lao et al (2018) - Clinical behavior and treatment of LPF-NT [4] Zarak et al (2021) - Incidence and demographics of LPF-NT [5] Llamas-Velasco et al (2022) - Histological features and molecular characteristics of LPF-NT [6] Zhang et al (2024) - Current standard of care therapy for LPF-NT

Lipofibromatosis-like neural tumors (LPF-NTs) are a rare type of soft tissue tumor that can present with various signs and symptoms, although they are not specific to this condition. Here are some possible signs and symptoms associated with LPF-NTs:

• Slow-growing mass: LPF-NTs typically present as a slow-growing mass in the affected area, which can be painful or tender to touch [1].
• Swelling and enlargement: The tumor can cause swelling and enlargement of the affected limb or digit, due to an increase in perineural soft tissue and skin [4].
• Pain and discomfort: Patients may experience pain and discomfort in the affected area, which can worsen over time [9].
• Limited mobility: In some cases, LPF-NTs can cause limited mobility or stiffness in the affected limb or digit [1].
• Recurrence: There is a risk of recurrence after surgical removal of the tumor, which can lead to further complications and symptoms [7].

It's essential to note that these signs and symptoms are not unique to LPF-NTs and can be similar to those experienced with other soft tissue tumors. A definitive diagnosis can only be made through histopathological examination and molecular testing.

References:

[1] by IW Lao · 2018 · Cited by 26 — We present our experience with ten cases of lipofibromatosis-like tumour (LPF-NT) to further characterise this newly described neoplasm. [4] by A Razzaghi · 2005 · Cited by 102 — LFH commonly results in digital enlargement due to an increase in perineural soft tissue and skin. When accompanied by true macrodactyly, the tumour is referred ... [7] ... signs of relapse. Back to Top. DISCUSSION. In 2016, Agaram et al1 identified a novel type of mesenchymal tumor, called LPF-NT based on its resemblance with ... [9] by L Crumbach · 2020 · Cited by 10 — Lipofibromatosis-like neural tumors (LPF-NT) are soft tissue tumors characterized by a lipofibromatosis-like pattern, CD34/PS100 positivity, and recurrent ...

Diagnostic Tests for Lipofibromatosis-Like Neural Tumor (LPF-NT)

Lipofibromatosis-like neural tumor (LPF-NT) is a rare type of tumor that can be challenging to diagnose. However, several diagnostic tests can help identify this condition.

• Pathological Examination: The diagnosis of LPF-NT depends on pathological examination, which involves examining the tissue sample under a microscope [2]. Immunohistochemical examination of the co-expression of S100 and CD34 helps identify this type of tumor [2].
• Imaging Studies: Magnetic imaging studies can reveal a poorly defined soft tissue mass, as seen in one case report [3].
• Molecular Testing: Recent studies suggest that all patients with a presumed diagnosis of LPF-NT should be screened for NTRK fusions using sensitive methodologies [6]. This is because NTRK-rearranged mesenchymal tumors, including LPF-NT, can have similar morphological patterns and diagnostic challenges [8].

Diagnostic Challenges

Diagnosing LPF-NT can be challenging due to its rarity and similarity in appearance to other conditions. A literature review found that the diagnosis of LPF-NT was often tentative and included low-grade neural tumors or spindle cell tumors [4]. However, with advances in molecular testing, it is now possible to identify NTRK fusions associated with this condition.

References

[1] Bartenstein DW (2018) - This case report and literature review includes comparison of similar diagnoses including lipofibromatosis, low-grade malignant peripheral nerve sheath tumor, ... [2] Zhang X (2024) - The diagnosis of LPF-NT depends on pathological examination, and immunohistochemical examination of the co-expression of S100 and CD34 helps identify this type ... [3] Zarak MS (2021) - Physical examination revealed a painful, non-tender firm mass on the right medial foot. Magnetic imaging studies revealed a poorly defined soft ... [4] Lao IW (2018) - Lipofibromatosis-like ... Our tentative diagnosis included low grade neural tumour, spindle cell tumour ... It is supposed that more studies might identify more ... [5] Bartenstein DW (2018) - This case report and literature review includes comparison of similar diagnoses including lipofibromatosis, low-grade malignant peripheral nerve sheath tumor, ... [6] Dupuis M (2020) - These results suggest that all patients with a presumed diagnosis of LPF-NT should be screened for NTRK fusions using sensitive methodologies, ... [7] Zarak MS (2021) - These findings were supportive of a diagnosis of LPF-NT. At 3-month post-excision, the patient had no pain and repeat imaging indicated no evidence of tumor. [8] Lao IW (2018) - NTRK-rearranged mesenchymal tumours: diagnostic challenges, morphological patterns and proposed testing algorithm ... Lipofibromatosis like neural tumor is ... [9] Integrated disease information for Lipofibromatosis-Like Neural Tumor including associated genes, mutations, phenotypes, pathways, drugs, ...

Current Drug Treatment Options for Lipofibromatosis-Like Neural Tumor (LPF-NT)

Unfortunately, there are no validated standardized chemotherapies or molecular targeted therapies that have been shown to be effective in treating LPF-NT [4][5]. However, researchers are exploring new treatment options.

• NTRK-fusion inhibitor: A case report published in 2023 successfully treated a patient with LPF-NT using an NTRK-fusion inhibitor [6].
• Targeted therapy: Treatment options for children with soft tissue sarcoma, which includes LPF-NT, include targeted therapy. However, the effectiveness of this treatment option is not well established for LPF-NT specifically [7].

It's essential to note that surgery remains the current standard of care therapy for LPF-NT, and there are no chemotherapies or molecular targeted therapies that have been shown to be effective in treating this condition [5][8]. Further research is needed to explore new treatment options for LPF-NT.

References: [4] by M Dupuis · 2020 · Cited by 13 [5] Oct 22, 2024 [6] by CM Ulschmid · 2023 · Cited by 2 [7] Oct 15, 2024 [8] Oct 15, 2024

Differential Diagnoses of Lipofibromatosis-like Neural Tumor (LPF-NT)

Lipofibromatosis-like neural tumors (LPF-NTs) are rare lesions that can be challenging to diagnose. The differential diagnoses for LPF-NTs include:

• DFSP (Dermatofibrosarcoma Protuberans): This is a type of skin cancer that can appear as a firm, painless nodule or tumor. [1][5]
• Infantile Fibrosarcoma: A rare type of soft tissue sarcoma that typically affects children and young adults. [2][6]
• Low-grade Malignant Peripheral Nerve Sheath Tumor (MPNST): A rare type of cancer that arises from the nerve sheaths. [1][5][8]
• Peripheral Nerve Sheath Tumor: A type of tumor that arises from the nerve sheaths, which can be benign or malignant. [2][6][8]
• Spindle Cell Mesenchymal Neoplasms: These are rare tumors that arise in superficial soft tissues and may need to be differentiated from LPF-NTs. [9]

Treatment and Prognosis

LPF-NTs are typically treated with surgical excision, which is the preferred treatment option. However, these tumors have a relatively high rate of local recurrence if their surgical excisions are incomplete or inadequate. [7]

References

[1] H HIGAKI-MORI (2020) - The main differential diagnoses of the lesion include DFSP, infantile fibrosarcoma, low-grade malignant peripheral nerve sheath tumour (MPNST), fibrous ...

[2] DW Bartenstein (2018) - Clinically, differential diagnoses other than lipofibromatosis include peripheral nerve sheath tumor, dermatofibrosarcoma protuberans, infantile fibrosarcoma, ...

[3] X Zhang (2024) - Conclusion: Histological and immunohistochemical detections aid in the differential diagnosis of LPF-NTs.

[4] MS Zarak (2021) - This case report highlights the unusual presentation of LPF-NT in adults. Based on this, the authors recommend including LPF-NT in the differential diagnosis of ...

[5] Jun 3, 2020 - The main differential diagnoses of the lesion include DFSP, infantile fibrosarcoma, low-grade malignant peripheral nerve sheath tumour (MPNST), ...

[6] DW Bartenstein (2018) - Clinically, differential diagnoses other than lipofibromatosis include peripheral nerve sheath tumor, dermatofibrosarcoma protuberans, infantile ...

[7] LPF-NTs are locally invasive, are commonly treated by surgical excision, and have a relatively high rate of local recurrence if their surgical excisions are ...

[8] DW Bartenstein (2018) - Clinically, differential diagnoses other than lipofibromatosis include peripheral nerve sheath tumor, dermatofibrosarcoma protuberans.

[9] S Mocellin (2021) - Differential diagnosis may be needed with spindle cell mesenchymal neoplasms arising in superficial soft tissues (in particular of young ...