Pulmonary extraskeletal myxoid chondrosarcoma: A case report and literature review

Balanzá, Ricardo; Arrangoiz, Rodrigo; Cordera, Fernando; Muñoz, Manuel; Luque-de-León, Enrique; Moreno, Eduardo; Molinar, Lourdes; Somerville, Nicole

doi:10.1016/j.ijscr.2016.08.025

Cited by 10 publications

(8 citation statements)

References 20 publications

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“…Extraosseous myxoid chondrosarcoma (EMC) typically occurs in the proximal extremities and deep soft tissues of the limb band, but can also occur in the lungs [13,14]. Histologically, EMC is composed of cytoplasmically sparse bundles soaked in a rich mucus matrix, similar to PPMS.…”

Section: Discussionmentioning

confidence: 99%

A malignant epithelioid tumor with EWSR1 fusion mimics primary pulmonary myxoid sarcoma (PPMS): a variant of PPMS or under-recognized entity?

Zhang,

Li,

Huang

et al. 2024

Preprint

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Background Primary pulmonary myxoid sarcoma (PPMS) is an extremely rare soft tissue tumor that is characterized in most cases by the oncogenic fusion gene EWSR1-CREB1. Tumor cells with epithelioid differentiation have not been described in PPMS. We report a primary lung tumor with morphological, immunohistochemical and molecular features closely mimics PPMS, but with concomitant epithelioid differentiation. Is this a variant of PPMS or under-recognized entity? Case presentation: A 34-year-old female patient showed a CT scan showing nodular opacities around the upper lobe of the left lung with a diameter of 8 mm, which was mildly unevenly enhanced after enhancement. Histologically there were two tumor areas, one of which presented a typical PPMS morphology, and the tumor cells were stellate, polygonal, epithelial and arranged as reticular and cords in abundant myxoid stroma. The other tumor area presented an epithelioid cell morphology. The tumor cell immunophenotype was positive for vimentin, INI1 and negative for TTF-1, P40, S-100, SOX10, CK5/6, SMA, Desmin, PAX8, Brachyury and WT1. Interestingly, immunohistochemistry confirmed positive AE1/AE3 in epithelioid cell regions, while AE1/AE3 was negative in typical PPMS regions. Molecular analysis demonstrated the presence of EWSR1-CREB1 gene fusions in the tumor. Conclusion PPMS is a very rare lung malignant soft tissue tumor with distinct histological and genetic features. Our challenge case had morphological, immunohistochemical and molecular features similar to PPMS, but with epithelioid differentiation.We prefer to describe this tumour as a variant of PPMS instead of a new entity.

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Section: Discussionmentioning

confidence: 99%

A malignant epithelioid tumor with EWSR1 fusion mimics primary pulmonary myxoid sarcoma (PPMS): a variant of PPMS or under-recognized entity?

Zhang,

Li,

Huang

et al. 2024

Preprint

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“…Most patients in the literature presented with respiratory symptoms [ 2 , 7 , 9 – 11 , with occasional reports of chest pain and weight loss [ 2 , 10 ]. Nevertheless, a minority of patients presented with no clinical symptoms at all [ 6 , 14 – 16 ]. In our case, the patient was incidentally diagnosed during a routine physical examination and remained asymptomatic.…”

Section: Discussionmentioning

confidence: 99%

Primary pulmonary myxoid sarcoma in the interlobar fissure of the left lung lobe: a case report

Xu,

Wu,

et al. 2024

BMC Pulm Med

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Background Primary pulmonary myxoid sarcoma (PPMS) is a rare, low-grade malignant tumor, constituting approximately 0.2% of all lung tumors. Despite its rarity, PPMS possesses distinctive histological features and molecular alterations, notably the presence of EWSR1-CREB1 gene fusion. However, its precise tissue origin remains elusive, posing challenges in clinical diagnosis. Case demonstration A 20-year-old male patient underwent a routine physical examination 6 months prior, revealing a pulmonary mass. Following surgical excision, microscopic evaluation unveiled predominantly short spindle-shaped tumor cells organized in a fascicular, beam-like, or reticular pattern. The stromal matrix exhibited abundant mucin, accompanied by lymphocytic and plasma cell infiltration, with Russell bodies evident in focal areas. Immunophenotypic profiling revealed positive expression of vimentin and epithelial membrane antigen in tumor cells, whereas smooth muscle actin and S-100, among others, were negative. Ki-67 proliferation index was approximately 5%. Subsequent second-generation sequencing identified the characteristic EWSR1-CREB1 gene fusion. The definitive pathological diagnosis established PPMS. The patient underwent no adjuvant chemotherapy or radiotherapy and remained recurrence-free during a 30-month follow-up period. Conclusions We report a rare case of PPMS located within the left lung lobe interlobar fissure, featuring Russell body formation within the tumor stroma, a novel finding in PPMS. Furthermore, the histomorphological characteristics of this case highlight the diagnostic challenge it poses, as it may mimic inflammatory myofibroblastic tumor, extraskeletal myxoid chondrosarcoma, or hemangiopericytoma-like fibrous histiocytoma. Therefore, accurate diagnosis necessitates an integrated approach involving morphological, immunohistochemical, and molecular analyses.

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“…Histologically, extraskeletal myxoid chondrosarcoma shows more deeply eosinophilic cytoplasms of the tumor cells and less vascular stroma than primary pulmonary myxoid sarcoma, and can be focally positive for S100 protein. Genetically, extraskeletal myxoid chondrosarcoma consistently harbors NR4A3 gene fusions, most commonly to EWSR1 , 13 and again, EWSR1 FISH assay alone is insufficient for the differentiation.…”

Section: Discussionmentioning

confidence: 99%

Primary Pulmonary Myxoid Sarcoma with EWSR1::ATF1 Fusion: A Case Report

Nishimura

Inamori

et al. 2022

Int J Surg Pathol

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Primary pulmonary myxoid sarcoma is a rare lung sarcoma, mostly involving the central lung and harboring the EWSR1::CREB1 fusion. We report an exceptional case of primary pulmonary myxoid sarcoma arising in the peripheral lung and harboring an EWSR1::ATF1 gene fusion. A 67-year-old man presented with a solid nodule in the right lower lobe, and wedge resection was performed. Microscopically, the tumor consisted of reticular proliferation of uniform mildly atypical spindle cells within abundant myxoid stroma. Immunohistochemically, smooth muscle actin was positive but desmin was negative. Fluorescence in situ hybridization confirmed EWSR1 and ATF1 gene rearrangements. No recurrence was seen for 12 months. Pathological findings and gene rearrangements are important for the diagnosis of primary pulmonary myxoid sarcoma. Complete resection and careful observation are required.

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Pulmonary extraskeletal myxoid chondrosarcoma: A case report and literature review

Cited by 10 publications

References 20 publications

A malignant epithelioid tumor with EWSR1 fusion mimics primary pulmonary myxoid sarcoma (PPMS): a variant of PPMS or under-recognized entity?

A malignant epithelioid tumor with EWSR1 fusion mimics primary pulmonary myxoid sarcoma (PPMS): a variant of PPMS or under-recognized entity?

Primary pulmonary myxoid sarcoma in the interlobar fissure of the left lung lobe: a case report

Primary Pulmonary Myxoid Sarcoma with EWSR1::ATF1 Fusion: A Case Report

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