Unusual split green-orange signals in USP6 fluorescence in situ hybridization in a malignant peripheral nerve sheath tumor with a novel NF1-SCIMP fusion: a potential diagnostic pitfall

Qiu, Yan; Jing, Wenyi; Zhou, Ying; Chen, Huijiao; Chen, Min; Zhang, Hongying

doi:10.1007/s00428-021-03179-2

Cited by 2 publications

(2 citation statements)

References 20 publications

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“…The histology of malignant peripheral nerve sheath tumor (MPNST) and LGFMS can overlap significantly. However, our case was positive for MUC4 immunostaining but negative for S100 protein and without loss of H3K27me3, which are useful diagnostic biomarkers for MPNST ( 50 ). The identification of FUS rearrangement further demonstrated the diagnosis as LGFMS.…”

Section: Discussionmentioning

confidence: 58%

Case report: Primary pleural low-grade fibromyxoid sarcoma in a 4-year-old boy with molecular confirmation

He,

Jing,

et al. 2023

Front. Oncol.

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Low-grade fibromyxoid sarcoma (LGFMS) is a rare malignant fibroblastic tumor, principally affecting the deep tissues of the proximal trunk and extremities in young adults. However, primary pleural LGFMS is extremely rare, and only three cases have been reported in the previous English literature without genetic confirmation. Furthermore, the historical pleural LGFMS cases were all adults, and the primary pleural LGFMS in children has never been reported to date. Here, we presented a primary pleural LGFMS in a 4-year-old boy with detailed clinical, pathological, and molecular results. Histologically, the current tumor showed typical alternating collagenous and myxoid areas, containing spindled or oval tumor cells arranged in a whorled and short fascicular pattern. In some areas, the tumor cells exhibited moderate atypia, and mitotic figures were identified but without the identification of giant collagen rosettes. Immunohistochemically, all the neoplastic cells showed strong and diffuse positivity for MUC4. Genetically, FUS gene rearrangement was revealed by fluorescence in-situ hybridization (FISH), and subsequently, next-generation sequencing (NGS) and polymerase chain reaction (PCR) further demonstrated the FUS::CREB3L2 fusion transcript. To the best of our knowledge, this is the first case of primary pleural LGFMS with the identification of FUS gene rearrangement and FUS::CREB3L2 fusion in a 4-year-old child. Our study expands the age range of pleural LGFMS and highlights the combination of morphological, immunohistochemical, and molecular analyses in such challenging cases.

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Section: Discussionmentioning

confidence: 58%

Case report: Primary pleural low-grade fibromyxoid sarcoma in a 4-year-old boy with molecular confirmation

He,

Jing,

et al. 2023

Front. Oncol.

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“…MPNST usually shows complete loss of staining for H3K27me3 but negativity for MDM2 expression. Notably, detection of MDM2 amplification, combined with the absence of the genetic loss of SUZ12 or EED , can help to confirm the diagnosis of DDL ( 62 ).…”

Section: Discussionmentioning

confidence: 99%

Primary intrathoracic liposarcomas: A clinicopathologic and molecular study of 43 cases in one of the largest medical centers of China

Xie

Jing²,

Zhao³

et al. 2022

Front. Oncol.

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IntroductionPrimary intrathoracic liposarcoma is extremely rare, and most published series lack genetic analyses. The aim of our study is to better understand the clinicopathologic and genetic features of these rare lesions.Materials and methodsForty-three primary intrathoracic liposarcomas were identified and most cases were analyzed by systematic genetic studies, including fluorescence in situ hybridization (FISH), whole-exome sequencing (WES), and Sanger sequencing.ResultsThis series included 27 males and 16 females (ratios, 1.68:1) aged 24-73 years (median, 53 years). Tumors mainly occurred in the mediastinum (n=23, 53.5%), followed by pleural cavity (n=16, 37.2%) and lung (n=4, 9.3%). The study included 21 well-differentiated liposarcomas (WDLs), 19 dedifferentiated liposarcomas (DDLs), 2 myxoid pleomorphic liposarcomas (MPLs) and 1 pleomorphic liposarcoma (PL), without identification of myxoid liposarcoma. FISH analysis identified MDM2 amplification in 17 of 18 WDLs (94.4%) and all DDLs (16/16, 100.0%). The MDM2-nonamplified WDL was CDK4-nonamplified but FRS2-amplified. WES and Sanger sequencing found somatic TP53 mutation in the 2 MPLs. Follow-up information was available for 33 of 38 cases (86.8%). Thirteen patients (39.4%) showed no evidence of disease, 10 patients (30.3%) were alive with disease, and 8 patients (24.2%) died of disease. Fourteen cases developed recurrence and 1 with metastasis.ConclusionsWDL/DDL was the overwhelming subtype in this location, followed by MPL and PL. Analysis of the FRS2 gene, in combination with MDM2 and other genes of 12q13-15, may more precisely characterize WDL/DDLs. MPL is the most fatal subtype of this site. Further studies are needed to explore the role of TP53 in the pathogenesis of MPL.

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Unusual split green-orange signals in USP6 fluorescence in situ hybridization in a malignant peripheral nerve sheath tumor with a novel NF1-SCIMP fusion: a potential diagnostic pitfall

Cited by 2 publications

References 20 publications

Case report: Primary pleural low-grade fibromyxoid sarcoma in a 4-year-old boy with molecular confirmation

Case report: Primary pleural low-grade fibromyxoid sarcoma in a 4-year-old boy with molecular confirmation

Primary intrathoracic liposarcomas: A clinicopathologic and molecular study of 43 cases in one of the largest medical centers of China

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