Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant

Yuichi Yamada, Izumi Kinoshita, Kenichi Kouhashi, Hidetaka Yamamoto, Takeshi Iwasaki, Hiroshi Otsuka, Masato Yoshimoto, Shin Ishihara, Yu Toda, Yuki Kuma, Nokitaka Setsu, Yuhki Koga, Yumi Honda, Takeshi Inoue, Hiroyuki Yanai, Kyoko Yamashita, Ichiro Ito, Mitsuru Takahashi, Shouichi Ohga, Masutaka Furue & 2 others Yasuharu Nakashima, Yoshinao Oda

研究成果: ジャーナルへの寄稿記事

8 引用 (Scopus)

抄録

Aims: Phosphaturic mesenchymal tumour, mixed connective tissue variant (PMT-MCT), is a tumour of uncertain differentiation, characterised by ‘smudgy/grungy’ calcification and vitamin D-resistant phosphaturic osteomalacia. Fibroblast growth factor (FGF)23 is recognised as a reliable marker of PMT-MCT, but quantitative evaluation has never been performed. We reviewed cases of tumour-associated osteomalacia or histologically definitive PMT-MCT without osteomalacia using histological, immunohistochemical and genetic methods and evaluated the diagnostic significance of these findings. Methods and results: A total of 19 tumours from 14 cases diagnosed previously as PMT-MCT were retrieved, on which immunohistochemical staining, reverse transcription–polymerase chain reaction (RT–PCR) and fluorescence in-situ hybridisation (FISH) analysis were performed. Histologically, fibrous capsule, calcification and giant cell reaction tended to be observed in soft-tissue PMT-MCT, while PMT-MCT of bone and multiple PMT-MCT showed an infiltrative growth pattern. The immunohistochemical results were as follows: the tumour cells were positive for FGF23 (nine of 12, 75%), FGFR1 (11 of 11, 100%), CD56 (12 of 14, 85.7%) and E26 oncogene homologue (ERG) (5 of 13, 38.4%). The sole malignant tumour was positive for p53. FGF23 mRNA was detected in seven of 14 formalin-fixed paraffin-embedded (FFPE) specimens and all five frozen specimens by RT–PCR. The level of FGF23 mRNA, which was determined by real-time PCR, varied among the phosphaturic cases. Two of 17 tumours were positive for FGFR1 gene rearrangement. Conclusions: It was considered that PMT-MCT is a histopathological entity with or without phosphaturia, with varying levels of FGF23 mRNA, and with or without fibronectin 1 (FN1)–FGFR1 fusion gene. The authors propose that the histology of PMT-MCT differs depending on its location, such as bone or soft tissue, which could complicate the differential diagnosis.

元の言語英語
ページ(範囲)460-471
ページ数12
ジャーナルHistopathology
72
発行部数3
DOI
出版物ステータス出版済み - 2 1 2018

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Connective Tissue
Neoplasms
Osteomalacia
Messenger RNA
Familial Hypophosphatemia
Bone and Bones
Gene Rearrangement
Gene Fusion
Giant Cells
Fluorescence In Situ Hybridization
Oncogenes
Fibronectins
Vitamin D
Paraffin
Formaldehyde
Capsules
Real-Time Polymerase Chain Reaction
Histology
Differential Diagnosis

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Histology

これを引用

Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant. / Yamada, Yuichi; Kinoshita, Izumi; Kouhashi, Kenichi; Yamamoto, Hidetaka; Iwasaki, Takeshi; Otsuka, Hiroshi; Yoshimoto, Masato; Ishihara, Shin; Toda, Yu; Kuma, Yuki; Setsu, Nokitaka; Koga, Yuhki; Honda, Yumi; Inoue, Takeshi; Yanai, Hiroyuki; Yamashita, Kyoko; Ito, Ichiro; Takahashi, Mitsuru; Ohga, Shouichi; Furue, Masutaka; Nakashima, Yasuharu; Oda, Yoshinao.

:: Histopathology, 巻 72, 番号 3, 01.02.2018, p. 460-471.

研究成果: ジャーナルへの寄稿記事

Yamada, Y, Kinoshita, I, Kouhashi, K, Yamamoto, H, Iwasaki, T, Otsuka, H, Yoshimoto, M, Ishihara, S, Toda, Y, Kuma, Y, Setsu, N, Koga, Y, Honda, Y, Inoue, T, Yanai, H, Yamashita, K, Ito, I, Takahashi, M, Ohga, S, Furue, M, Nakashima, Y & Oda, Y 2018, 'Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant', Histopathology, 巻. 72, 番号 3, pp. 460-471. https://doi.org/10.1111/his.13377
Yamada, Yuichi ; Kinoshita, Izumi ; Kouhashi, Kenichi ; Yamamoto, Hidetaka ; Iwasaki, Takeshi ; Otsuka, Hiroshi ; Yoshimoto, Masato ; Ishihara, Shin ; Toda, Yu ; Kuma, Yuki ; Setsu, Nokitaka ; Koga, Yuhki ; Honda, Yumi ; Inoue, Takeshi ; Yanai, Hiroyuki ; Yamashita, Kyoko ; Ito, Ichiro ; Takahashi, Mitsuru ; Ohga, Shouichi ; Furue, Masutaka ; Nakashima, Yasuharu ; Oda, Yoshinao. / Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant. :: Histopathology. 2018 ; 巻 72, 番号 3. pp. 460-471.
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abstract = "Aims: Phosphaturic mesenchymal tumour, mixed connective tissue variant (PMT-MCT), is a tumour of uncertain differentiation, characterised by ‘smudgy/grungy’ calcification and vitamin D-resistant phosphaturic osteomalacia. Fibroblast growth factor (FGF)23 is recognised as a reliable marker of PMT-MCT, but quantitative evaluation has never been performed. We reviewed cases of tumour-associated osteomalacia or histologically definitive PMT-MCT without osteomalacia using histological, immunohistochemical and genetic methods and evaluated the diagnostic significance of these findings. Methods and results: A total of 19 tumours from 14 cases diagnosed previously as PMT-MCT were retrieved, on which immunohistochemical staining, reverse transcription–polymerase chain reaction (RT–PCR) and fluorescence in-situ hybridisation (FISH) analysis were performed. Histologically, fibrous capsule, calcification and giant cell reaction tended to be observed in soft-tissue PMT-MCT, while PMT-MCT of bone and multiple PMT-MCT showed an infiltrative growth pattern. The immunohistochemical results were as follows: the tumour cells were positive for FGF23 (nine of 12, 75{\%}), FGFR1 (11 of 11, 100{\%}), CD56 (12 of 14, 85.7{\%}) and E26 oncogene homologue (ERG) (5 of 13, 38.4{\%}). The sole malignant tumour was positive for p53. FGF23 mRNA was detected in seven of 14 formalin-fixed paraffin-embedded (FFPE) specimens and all five frozen specimens by RT–PCR. The level of FGF23 mRNA, which was determined by real-time PCR, varied among the phosphaturic cases. Two of 17 tumours were positive for FGFR1 gene rearrangement. Conclusions: It was considered that PMT-MCT is a histopathological entity with or without phosphaturia, with varying levels of FGF23 mRNA, and with or without fibronectin 1 (FN1)–FGFR1 fusion gene. The authors propose that the histology of PMT-MCT differs depending on its location, such as bone or soft tissue, which could complicate the differential diagnosis.",
author = "Yuichi Yamada and Izumi Kinoshita and Kenichi Kouhashi and Hidetaka Yamamoto and Takeshi Iwasaki and Hiroshi Otsuka and Masato Yoshimoto and Shin Ishihara and Yu Toda and Yuki Kuma and Nokitaka Setsu and Yuhki Koga and Yumi Honda and Takeshi Inoue and Hiroyuki Yanai and Kyoko Yamashita and Ichiro Ito and Mitsuru Takahashi and Shouichi Ohga and Masutaka Furue and Yasuharu Nakashima and Yoshinao Oda",
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T1 - Histopathological and genetic review of phosphaturic mesenchymal tumours, mixed connective tissue variant

AU - Yamada, Yuichi

AU - Kinoshita, Izumi

AU - Kouhashi, Kenichi

AU - Yamamoto, Hidetaka

AU - Iwasaki, Takeshi

AU - Otsuka, Hiroshi

AU - Yoshimoto, Masato

AU - Ishihara, Shin

AU - Toda, Yu

AU - Kuma, Yuki

AU - Setsu, Nokitaka

AU - Koga, Yuhki

AU - Honda, Yumi

AU - Inoue, Takeshi

AU - Yanai, Hiroyuki

AU - Yamashita, Kyoko

AU - Ito, Ichiro

AU - Takahashi, Mitsuru

AU - Ohga, Shouichi

AU - Furue, Masutaka

AU - Nakashima, Yasuharu

AU - Oda, Yoshinao

PY - 2018/2/1

Y1 - 2018/2/1

N2 - Aims: Phosphaturic mesenchymal tumour, mixed connective tissue variant (PMT-MCT), is a tumour of uncertain differentiation, characterised by ‘smudgy/grungy’ calcification and vitamin D-resistant phosphaturic osteomalacia. Fibroblast growth factor (FGF)23 is recognised as a reliable marker of PMT-MCT, but quantitative evaluation has never been performed. We reviewed cases of tumour-associated osteomalacia or histologically definitive PMT-MCT without osteomalacia using histological, immunohistochemical and genetic methods and evaluated the diagnostic significance of these findings. Methods and results: A total of 19 tumours from 14 cases diagnosed previously as PMT-MCT were retrieved, on which immunohistochemical staining, reverse transcription–polymerase chain reaction (RT–PCR) and fluorescence in-situ hybridisation (FISH) analysis were performed. Histologically, fibrous capsule, calcification and giant cell reaction tended to be observed in soft-tissue PMT-MCT, while PMT-MCT of bone and multiple PMT-MCT showed an infiltrative growth pattern. The immunohistochemical results were as follows: the tumour cells were positive for FGF23 (nine of 12, 75%), FGFR1 (11 of 11, 100%), CD56 (12 of 14, 85.7%) and E26 oncogene homologue (ERG) (5 of 13, 38.4%). The sole malignant tumour was positive for p53. FGF23 mRNA was detected in seven of 14 formalin-fixed paraffin-embedded (FFPE) specimens and all five frozen specimens by RT–PCR. The level of FGF23 mRNA, which was determined by real-time PCR, varied among the phosphaturic cases. Two of 17 tumours were positive for FGFR1 gene rearrangement. Conclusions: It was considered that PMT-MCT is a histopathological entity with or without phosphaturia, with varying levels of FGF23 mRNA, and with or without fibronectin 1 (FN1)–FGFR1 fusion gene. The authors propose that the histology of PMT-MCT differs depending on its location, such as bone or soft tissue, which could complicate the differential diagnosis.

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