TY - JOUR
T1 - Myxoepithelioid tumour with chordoid features
T2 - a clinicopathological, immunohistochemical and genetic study of 14 cases of SMARCB1/INI1-deficient soft-tissue neoplasm
AU - Kinoshita, Izumi
AU - Kohashi, Kenichi
AU - Yamamoto, Hidetaka
AU - Yamada, Yuichi
AU - Inoue, Takeshi
AU - Higaki, Koichi
AU - Teramoto, Norihiro
AU - Oshiro, Yumi
AU - Nakashima, Yasuharu
AU - Oda, Yoshinao
N1 - Funding Information:
Technical support for the experimental trials was provided by the following laboratory assistants: Motoko Tomita, Mami Nakamizo, Juri Godo, Kozue Ueno‐Matsuda, Miwako Ishii, Jumi Yahiro‐Matsumoto, and Haruka Inoue. We also appreciate the technical assistance from the Research Support Centre, Kyushu University Graduate School of Medical Sciences. This study was supported by a JSPS KAKEN Grant (No. 19H03444, 17K15645).
Funding Information:
Technical support for the experimental trials was provided by the following laboratory assistants: Motoko Tomita, Mami Nakamizo, Juri Godo, Kozue Ueno-Matsuda, Miwako Ishii, Jumi Yahiro-Matsumoto, and Haruka Inoue. We also appreciate the technical assistance from the Research Support Centre, Kyushu University Graduate School of Medical Sciences. This study was supported by a JSPS KAKEN Grant (No. 19H03444, 17K15645).
Publisher Copyright:
© 2021 John Wiley & Sons Ltd
PY - 2021/10
Y1 - 2021/10
N2 - Aims: Complete loss of SMARCB1/INI1 in soft-tissue tumours such as malignant rhabdoid tumour, epithelioid sarcoma, myoepithelial tumour of soft tissue and extraskeletal myxoid chondrosarcoma is often associated with high-grade malignancy and poor prognosis. The diagnosis is sometimes challenging, owing to histological similarities, so careful differential diagnosis is required. Therefore, soft-tissue tumours with complete SMARCB1/INI1 loss could potentially include an unknown entity. Methods and results: We analysed 160 cases of SMARCB1/INI1-deficient soft-tissue tumour, and found 14 cases that were not classifiable into already existing categories and had common clinical and histological features. These involved two male and 12 female patients, ranging in age from 20 years to 61 years. The tumours were located in the the puboinguinal region (n = 13) and pelvic cavity (n = 1). Histologically, the tumours showed relatively uniform epithelioid to spindle-shaped cells with myxoid stroma. All tumours showed immunoreactivity for brachyury, epithelial membrane antigen, and progesterone receptor, and 12 of 14 cases did so for oestrogen receptor. Variable positive staining for α-smooth muscle actin, S100 and glial fibrillary acidic protein (GFAP) was seen. NR4A3 and EWSR1 gene rearrangements were not detected in 13 and 11 examined cases, respectively. Clinical follow-up data for the 14 patients showed that 13 were alive without disease and one had been lost to follow-up; four patients developed local recurrence and/or metastases. Conclusion: The designation ‘myxoepithelioid tumour with choroid features’ (METC) was proposed as a tumour with intermediate malignancy controllable with appropriate treatment, including the entity of myoepithelioma-like tumour of the vulvar region. METC represents a novel and independent subset that is histologically, biologically and clinically distinct from already existing SMARCB1/INI1-deficient soft-tissue tumours.
AB - Aims: Complete loss of SMARCB1/INI1 in soft-tissue tumours such as malignant rhabdoid tumour, epithelioid sarcoma, myoepithelial tumour of soft tissue and extraskeletal myxoid chondrosarcoma is often associated with high-grade malignancy and poor prognosis. The diagnosis is sometimes challenging, owing to histological similarities, so careful differential diagnosis is required. Therefore, soft-tissue tumours with complete SMARCB1/INI1 loss could potentially include an unknown entity. Methods and results: We analysed 160 cases of SMARCB1/INI1-deficient soft-tissue tumour, and found 14 cases that were not classifiable into already existing categories and had common clinical and histological features. These involved two male and 12 female patients, ranging in age from 20 years to 61 years. The tumours were located in the the puboinguinal region (n = 13) and pelvic cavity (n = 1). Histologically, the tumours showed relatively uniform epithelioid to spindle-shaped cells with myxoid stroma. All tumours showed immunoreactivity for brachyury, epithelial membrane antigen, and progesterone receptor, and 12 of 14 cases did so for oestrogen receptor. Variable positive staining for α-smooth muscle actin, S100 and glial fibrillary acidic protein (GFAP) was seen. NR4A3 and EWSR1 gene rearrangements were not detected in 13 and 11 examined cases, respectively. Clinical follow-up data for the 14 patients showed that 13 were alive without disease and one had been lost to follow-up; four patients developed local recurrence and/or metastases. Conclusion: The designation ‘myxoepithelioid tumour with choroid features’ (METC) was proposed as a tumour with intermediate malignancy controllable with appropriate treatment, including the entity of myoepithelioma-like tumour of the vulvar region. METC represents a novel and independent subset that is histologically, biologically and clinically distinct from already existing SMARCB1/INI1-deficient soft-tissue tumours.
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U2 - 10.1111/his.14393
DO - 10.1111/his.14393
M3 - Article
C2 - 33932047
AN - SCOPUS:85109108750
VL - 79
SP - 629
EP - 641
JO - Histopathology
JF - Histopathology
SN - 0309-0167
IS - 4
ER -