Primary malignant peripheral nerve sheath tumors of bone: a clinicopathologic reappraisal of 8 cases

Gambarotti, Marco; Righi, Alberto; Sbaraglia, Marta; Cocchi, Stefania; Benini, Stefania; Magagnoli, Giovanna; Frisoni, Tommaso; Palmerini, Emanuela; Picci, Piero; Tos, Angelo Paolo Dei

doi:10.1016/j.humpath.2022.02.003

Cited by 3 publications

(2 citation statements)

References 23 publications

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“…Fibroblastic osteosarcoma may occasionally display a pure/predominantly spindle cell proliferation, but in a larger sample focal osteoid deposition and multifocal IHC expression of SATB2 can be detected. Other extremely rare skeletal presentations of soft tissue tumors, such as the monophasic variant of synovial sarcoma and classic MPNST, may be confused with high‐grade variants of FS‐like or MPNST‐like BTKF 33–36 . Although neurofibromatosis (NF1)‐association is common in classic MPNST, rare cases of high‐grade MPNST‐like kinase fusion tumors have been reported recently to occur in the setting of NF1 16 .…”

Section: Discussionmentioning

confidence: 99%

“…Other extremely rare skeletal presentations of soft tissue tumors, such as the monophasic variant of synovial sarcoma and classic MPNST, may be confused with high-grade variants of FS-like or MPNST-like BTKF. [33][34][35][36] Although neurofibromatosis (NF1)-association is common in classic MPNST, rare cases of high-grade MPNST-like kinase fusion tumors have been reported recently to occur in the setting of NF1. 16 However, in contrast to BTKF, classic MPNST often shows loss of the H3K27me3 expression, 37 as shown in the unique case #7 included in this series, which represents a primary MPNST of bone and harboring UPF2::NTRK3 fusion in addition to TP53 H179L mutation, loss of CDKN2A/B, and loss of EED.…”

Section: Clinical Outcomementioning

confidence: 99%

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Kinase fusion positive intra‐osseous spindle cell tumors: A series of eight cases with review of the literature

Suurmeijer,

Xu,

Torrence

et al. 2023

Genes Chromosomes & Cancer

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Mesenchymal spindle cell tumors with kinase fusions, often presenting in superficial or deep soft tissue locations, may rarely occur in bone. Herein, we describe the clinicopathologic and molecular data of eight bone tumors characterized by various kinase fusions from our files and incorporate the findings with the previously reported seven cases, mainly as single case reports. In the current series all but one of the patients were young children or teenagers, with an age range from newborn to 59 years (mean 19 years). Most tumors (n = 5) presented in the head and neck area (skull base, mastoid, maxilla, and mandible), and remaining three in the tibia, pelvic bone, and chest wall. The fusions included NTRK1 (n = 3), RET (n = 2), NTRK3 (n = 2), and BRAF (n = 1). In the combined series (n = 15), most tumors (73%) occurred in children and young adults (<30 years) and showed a predilection for jaw and skull bones (40%), followed by long and small tubular bones (33%). The fusions spanned a large spectrum of kinase genes, including in descending order NTRK3 (n = 6), NTRK1 (n = 4), RET (n = 2), BRAF (n = 2), and RAF1 (n = 1). All fusions confirmed by targeted RNA sequencing were in‐frame and retained the kinase domain within the fusion oncoprotein. Similar to the soft tissue counterparts, most NTRK3‐positive bone tumors in this series showed high‐grade morphology (5/6), whereas the majority of NTRK1 tumors were low‐grade (3/4). Notably, all four tumors presenting in the elderly were high‐grade spindle cell sarcomas, with adult fibrosarcoma (FS)‐like, malignant peripheral nerve sheath tumor (MPNST)‐like and MPNST phenotypes. Overall, 10 tumors had high‐grade morphology, ranging from infantile and adult‐types FS, MPNST‐like, and MPNST, whereas five showed benign/low‐grade histology (MPNST‐like and myxoma‐like). Immunohistochemically (IHC), S100 and CD34 positivity was noted in 57% and 50%, respectively, while co‐expression of S100 and CD34 in 43% of cases. One‐third of tumors (4 high grade and the myxoma‐like) were negative for both S100 and CD34. IHC for Pan‐TRK was positive in all eight NTRK‐fusion positive tumors tested and negative in two tumors with other kinase fusions. Clinical follow‐up was too limited to allow general conclusions.

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Section: Discussionmentioning

confidence: 99%

Section: Clinical Outcomementioning

confidence: 99%

Kinase fusion positive intra‐osseous spindle cell tumors: A series of eight cases with review of the literature

Suurmeijer,

Xu,

Torrence

et al. 2023

Genes Chromosomes & Cancer

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En bloc resection and reconstruction using a talar prosthesis for malignant talar bone tumor: a surgical technique

Kobayashi,

Tsukamoto,

Kurokawa

et al. 2024

Eur J Orthop Surg Traumatol

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Distinguishing Characteristics of Benign Versus Malignant Intraosseous Schwannomas: A Comparative Study

Zhang,

Xiong,

Zheng

et al. 2024

Orthopaedic Surgery

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ObjectivesBenign and malignant intraosseous schwannomas are rare, and primarily documented in case reports. This study aims to elucidate the differences in clinical features and imaging manifestations between these tumors. This will help clinicians identify malignant lesions at an early stage, reliable guide treatment decisions, and accurately predict outcomes.MethodsEighteen patients who underwent surgery and got pathological examinations in our hospital from 2012 to 2023 were retrospectively reviewed. Among them, 14 cases were found benign with 4 malignant. In the benign group, patients underwent curettage followed by bone grafting, whereas the malignant group was treated with extensive resection or amputation. Patients' demographics and radiographic features, including gender, age at diagnosis, symptom duration, tumor location, tumor margin, and the ratio of sclerotic margins were documented and compared between these tumors. All imaging was reviewed by two fellowship‐trained musculoskeletal radiologists, who also quantified the sclerotic margin ratio. The intraclass correlation coefficient was used to determine inter‐observer agreement. The Mann–Whitney U test was applied for continuous clinical variables, and the chi‐square test or Fisher's exact test for categorical variables.ResultsIn our series, the mean age of these patients was 43.1 ± 14.0 years, six patients were male and 12 were female. Pain was the predominant preoperative symptom. The average duration from symptom onset to initial physician visit was 28.5 ± 25.3 months for benign schwannomas and 8.3 ± 4.3 months for malignant schwannomas (p = 0.012). On plain radiographs, 13 (13/14) of benign schwannomas exhibited well‐defined margins of bone destruction, compared to 1 (1/4) of malignant schwannomas (p = 0.019). Furthermore, benign schwannomas had a significantly higher sclerotic margin ratio (75.5%) than malignant ones (16.7%) (p = 0.001). No statistically significant difference was found between the two groups in terms of cortical bone destruction (p = 1.0). On MRI, both tumors demonstrated intermediate to slightly hypointense signal intensity on T1‐weighted images and heterogeneous high signal intensities on T2‐weighted images.ConclusionsDespite their rarity, benign and malignant intraosseous schwannomas should be considered in the differential diagnosis for patients presenting with painful and radiographically lytic bone lesions, especially in the mandible, sacrum, and vertebrae. The ratio of sclerotic margins, which we proposed for the first time, in combination with symptom duration and the clarity of tumor margins, provide valuable diagnostic clues for distinguishing the malignancy of the tumors.

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Primary malignant peripheral nerve sheath tumors of bone: a clinicopathologic reappraisal of 8 cases

Cited by 3 publications

References 23 publications

Kinase fusion positive intra‐osseous spindle cell tumors: A series of eight cases with review of the literature

Kinase fusion positive intra‐osseous spindle cell tumors: A series of eight cases with review of the literature

En bloc resection and reconstruction using a talar prosthesis for malignant talar bone tumor: a surgical technique

Distinguishing Characteristics of Benign Versus Malignant Intraosseous Schwannomas: A Comparative Study

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