Benign notochordal cell tumour: clinicopathology and molecular profiling of 13 cases

Du, Jiang; Xu, Li; Cui, Yun; Li, Zhaoxia; Su, Yun-Ai; Li, Guilin

doi:10.1136/jclinpath-2018-205441

Cited by 12 publications

(14 citation statements)

References 49 publications

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“…EGFR ampli cation was not detected. Du reported the EGFR ampli cation rate in skull base BNCT was 30.8%, much lower than that in chordoma [19]. While deletion mutation of EGFR gene exon 19 occurred, which was common in lung adenocarcinomas.…”

Section: Discussionmentioning

confidence: 96%

“…In our case, the brachyury-positive pattern was consistent with most of the literatures aforementioned, and CK (AE1/AE3), EMA, S100 were positively stained, strongly suggested notochordal differentiation. Reported skull BNCT typically had a Ki-67 index range from 1-3% [17][18][19], while the lung BNCTs was 1-5.2% [3,[8][9][10], which was even higher. However, the follow-up results showed that no recurrence occurred in patients with a higher Ki-67 index, indicating the benign biological behavior of this tumor [19].…”

Section: Discussionmentioning

confidence: 99%

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Pulmonary Tumor With Notochordal Differentiation: A Case Report and Morphologic, Immunohistochemical and Molecular Study of Benign Notochordal Cell Tumor Originating in the Lung

Song

et al. 2021

Preprint

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Background: Extraosseous benign notochordal cell tumor is extremely rare, and there are only five reported cases worldwide. The presented case of pulmonary primary benign notochordal cell tumor is the sixth case, but the first to report the deletion mutation of EGFR gene exon 19. Case presentation: The patient was a 50-year-old asymptomatic woman, who had been followed up for 3 years for a nodule in the right lung. Six months after the wedge resection, the patient is alive without evidence recurrence or metastasis. The tumor was 7 millimeters in diameter and was well demarcated. The tumor was consisted of a sheet of large round vacuolated cells with small and bland nuclei. No connective tissue containing blood vessels or inflammatory cell infiltration was detected in the stroma. The tumor were positive for CK AE1/AE3, Vimentin, S100 and Brachyury. Deletion mutation of EGFR gene exon 19 was first detected and reported. Conclusions: We firstly reported the EGFR mutation of pulmonary primary benign notochordal cell tumor. Due to the rarity of this tumor, more reports are need to explore pathological characteristics, especially the molecular characteristics, in order to better understand the nature of tumors

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Pulmonary Tumor With Notochordal Differentiation: A Case Report and Morphologic, Immunohistochemical and Molecular Study of Benign Notochordal Cell Tumor Originating in the Lung

Song

et al. 2021

Preprint

View full text Add to dashboard Cite

show abstract

“…In our case, the brachyury-positive pattern was consistent with most of the literatures aforementioned, and CK (AE1/AE3), EMA, S100 were positively stained, strongly suggested notochordal differentiation. Reported skull BNCT typically had a Ki-67 index range from <1 to 3% [ 17 – 19 ], while the lung BNCTs was 1 to 5.2% [ 3 , 8 – 10 ], which was even higher. However, the follow-up results showed that no recurrence occurred in patients with a higher Ki-67 index, indicating the benign biological behavior of this tumor [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…Reported skull BNCT typically had a Ki-67 index range from <1 to 3% [ 17 – 19 ], while the lung BNCTs was 1 to 5.2% [ 3 , 8 – 10 ], which was even higher. However, the follow-up results showed that no recurrence occurred in patients with a higher Ki-67 index, indicating the benign biological behavior of this tumor [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…Inspired by the serendipitous positive result of EGFR immunohistochemical staining, EGFR amplification and mutation tests were conducted, and the results were both negative. However, Du reported the EGFR amplification rate in skull base BNCT was 30.8%, which was much lower than that in chordoma [ 19 ]. While EGFR gene mutation was not mentioned, which was common in lung adenocarcinomas.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Pulmonary tumor with Notochordal differentiation: a case report and morphologic, Immunohistochemical and molecular study of benign Notochordal cell tumor originating in the lung

Song

et al. 2021

Diagn Pathol

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Background Extraosseous benign notochordal cell tumor is extremely rare, and there are only five reported cases worldwide. The presented case of pulmonary primary benign notochordal cell tumor is the sixth case, but the first to report the deletion mutation of EGFR gene exon 19. Case presentation The patient was a 50-year-old asymptomatic woman, who had been followed up for 3 years for a nodule in the right lung. After ten months of the wedge resection, the patient is alive without evidence of recurrence or metastasis. The tumor was 7 mm in diameter and was well demarcated. The tumor was consisted of a sheet of large round vacuolated cells with small and bland nuclei. No connective tissue containing blood vessels or inflammatory cell infiltration was detected in the stroma. The tumor was positive for CK AE1/AE3, Vimentin, S100 and Brachyury. EGFR gene mutation and amplification were not detected. Conclusions We firstly reported the positive immunohistochemical staining for EGFR and the negative molecular results of EGFR gene of pulmonary primary benign notochordal cell tumor. Due to the rarity of this tumor, more reports are needed to explore pathological characteristics, especially the molecular characteristics, in order to better understand the nature of tumors.

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Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma

Huo,

Ma,

Wang

et al. 2023

Clinical & Translational Med

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BackgroundSkull base chordoma is a rare and aggressive tumour of the bone that has a high likelihood of recurrence. The fundamental differences in single cells between primary and recurrent lesions remain poorly understood, impeding development of effective treatment approaches.MethodsTo obtain an understanding of the differences in single cells between primary and recurrent chordomas, we performed single‐cell RNA sequencing and T‐cell/B‐cell receptor (BCR) sequencing. This allowed us to delineate the differences between the two types of tumour cells, tumour‐infiltrating lymphocytes, myeloid cells, fibroblasts and B cells. Copy number variants (CNVs) were detected and compared between the tumour types to assess heterogeneity. Selected samples were subjected to immunohistochemistry to validate protein expression. Fluorescence in situ hybridisation experiments, Transwell assays and xenograft mouse models helped verify the role of fibronectin 1 (FN1) in chordoma.ResultsPromoting natural killer (NK) cell and CD8_GZMK T‐cell function or inhibiting the transformation of CD8_GZMK T cells to CD8_ZNF683 T cells and promoting the transformation of natural killer T (NKT) cells to NK cells are promising strategies for preventing chordoma recurrence. Additionally, inhibiting the M2‐like activity of tumour‐associated macrophages (TAMs) could be an effective approach. Antigen‐presenting cancer‐associated fibroblasts (apCAFs) and dendritic cells (DCs) with high enrichment of the antigen‐presenting signature were enriched in primary chordomas. There were fewer plasma cells and BCR clonotypes in recurrent chordomas. Remarkably, FN1 was upregulated, had more CNVs, and was more highly secreted by tumours, macrophages, CD4 T cells, CD8 T cells and fibroblasts in recurrent chordoma than in primary chordoma. Finally, FN1 enhanced the invasion and proliferation of chordomas in vivo and in vitro.ConclusionOur comprehensive picture of the microenvironment of primary and recurrent chordomas provides deep insights into the mechanisms of chordoma recurrence. FN1 is an important target for chordoma therapy.

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Benign notochordal cell tumour: clinicopathology and molecular profiling of 13 cases

Cited by 12 publications

References 49 publications

Pulmonary Tumor With Notochordal Differentiation: A Case Report and Morphologic, Immunohistochemical and Molecular Study of Benign Notochordal Cell Tumor Originating in the Lung

Pulmonary Tumor With Notochordal Differentiation: A Case Report and Morphologic, Immunohistochemical and Molecular Study of Benign Notochordal Cell Tumor Originating in the Lung

Pulmonary tumor with Notochordal differentiation: a case report and morphologic, Immunohistochemical and molecular study of benign Notochordal cell tumor originating in the lung

Unravelling the role of immune cells and FN1 in the recurrence and therapeutic process of skull base chordoma

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