NAB2-STAT6 融合遺伝子の発現を認め中等度の転移リスクが示唆された上顎孤立性線維腫の1例
Solitary fibrous tumor（SFT） is a rare tumor in the oral region, and NAB2-STAT6 gene fusions are pathognomonic for SFT. Recently, various NAB2-STAT6 genotypes have been confirmed. This paper describes a case of a histologically rare metastasis of SFT with intermediate malignant potential that occurre...
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| Published in | 日本口腔外科学会雑誌 Vol. 70; no. 3; pp. 134 - 140 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
公益社団法人 日本口腔外科学会
20.03.2024
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0021-5163 2186-1579 |
| DOI | 10.5794/jjoms.70.134 |
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| Abstract | Solitary fibrous tumor（SFT） is a rare tumor in the oral region, and NAB2-STAT6 gene fusions are pathognomonic for SFT. Recently, various NAB2-STAT6 genotypes have been confirmed. This paper describes a case of a histologically rare metastasis of SFT with intermediate malignant potential that occurred in the maxillary gingiva. A 96-year-old woman visited our hospital because of swelling of the upper gingiva. Intra-oral examination revealed a well-defined elastic hard mass measuring 20×15×15 mm in the maxillary tuberosity. After several imaging examinations, a clinical diagnosis of benign tumor in the upper jaw was suggested. The lesion was surgically excised. Histological examination showed randomly arranged short spindle-shaped cells with indistinct, pale eosinophilic cytoplasm within a variably collagenous stroma, nuclear atypia, and five mitoses in ten high power fields. Immunohistochemical examination showed positive for STAT6, CD34, and CD99, and Ki-67 labeling index was 15%. The patient was considered to be at intermediate risk according to the 3-variable model for the prediction of metastatic risk. Genetic analysis showed NAB2 exon6-STAT6 exon 17 fusion gene. The histological diagnosis was SFT indicating intermediate malignant potential, but with intermediate risk of metastasis. No recurrence or metastasis have been observed in the five years following surgery. |
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| AbstractList | Solitary fibrous tumor（SFT） is a rare tumor in the oral region, and NAB2-STAT6 gene fusions are pathognomonic for SFT. Recently, various NAB2-STAT6 genotypes have been confirmed. This paper describes a case of a histologically rare metastasis of SFT with intermediate malignant potential that occurred in the maxillary gingiva. A 96-year-old woman visited our hospital because of swelling of the upper gingiva. Intra-oral examination revealed a well-defined elastic hard mass measuring 20×15×15 mm in the maxillary tuberosity. After several imaging examinations, a clinical diagnosis of benign tumor in the upper jaw was suggested. The lesion was surgically excised. Histological examination showed randomly arranged short spindle-shaped cells with indistinct, pale eosinophilic cytoplasm within a variably collagenous stroma, nuclear atypia, and five mitoses in ten high power fields. Immunohistochemical examination showed positive for STAT6, CD34, and CD99, and Ki-67 labeling index was 15%. The patient was considered to be at intermediate risk according to the 3-variable model for the prediction of metastatic risk. Genetic analysis showed NAB2 exon6-STAT6 exon 17 fusion gene. The histological diagnosis was SFT indicating intermediate malignant potential, but with intermediate risk of metastasis. No recurrence or metastasis have been observed in the five years following surgery. |
| Author | 福井, 丈仁 山本, 哲彰 金氏, 毅 山下, 善弘 馬場, 貴 鹿嶋, 光司 |
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| References | 6) Sun Y, Naito Z, et al : Basic FGF and Ki-67 proteins useful for immunohistological diagnostic evaluations in malignant solitary fibrous tumor. Pathol Int 53: 284-290, 2003. 1) Klemperer P and Rabin CB : Primary neoplasms of the pleura. A report of five cases. Arch Pathol 11: 385-412, 1931. 8) Ogawa I, Sato S, et al : Solitary fibrous tumor with malignant potential arising in sublingual gland. Pathol Int 53: 40-45, 2003. 14) Nobusawa A, Negishi A, et al : Solitary fibrous tumor composing benign and malignant components in the floor of the mouth: A case report. Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology 27: 267-270, 2015. 10) Yang XJ, Zheng JW, et al : Malignant solitary fibrous tumors of the head and neck: a clinicopathological study of nine consecutive patients. Oral Oncol 45: 678-682, 2009. 15) Kao YC, Lin PC, et al : Clinicopathological and genetic heterogeneity of the head and neck solitary fibrous tumours: a comparative histological, immunohistochemical and molecular study of 36 cases. Histopathology 68: 492-501, 2016. 29) Robinson DR, Wu YM, et al : Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat Genet 45: 180-185, 2013. 5) Tariq MU, Din NU, et al : The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior. Diagn Pathol 16: 32, 2021. 24) Raghani N, Raghani MJ, et al : Hemangiopericytoma/Solitary Fibrous Tumor of the Buccal Mucosa. Ann Maxillofac Surg 8: 151-153, 2018. 9) Vimi S, Punnya VA, et al : An aggressive solitary fibrous tumor with evidence of malignancy: a rare case report. Head Neck Pathol 2: 236-241, 2008. 16) Iorio B, Ronchi A, et al : Malignant extrapleural solitary fibrous tumor arising in the sublingual gland: A case report and review of literature. Oral Oncol 90:141-144, 2019. 27) 井東朗子，田窪千子，他：頰部に生じた孤立性線維性腫瘍の2例．日口外誌 64: 412-417, 2018. 13) 田窪千子，小谷 勇，他： 下顎骨に生じた悪性血管周皮腫 (孤立性線維性腫瘍) の1例．日口外誌 61: 158-163, 2015. 17) 園部 侑里，越塚 慶一，他：悪性所見を伴う口蓋孤立性線維性腫瘍例．耳鼻臨床 114: 443-449, 2021. 3) 木田久美子，小倉孝文：下顎歯肉に発生した孤立性線維性腫瘍の1例．日口外誌 62: 539-543, 2016. 2) Demicco EG, Fritchie KJ, et al : Solitary fibrous tumor. In Demicco EG, Fritchie KJ, et al ; WHO Classification of Tumours, Soft Tissue and Bone Tumours. IARC Press, Lyon, 2020, p104-108. 7) Shnayder Y, Greenfield BJ, et al : Malignant solitary fibrous tumor of the tongue. Am J Otolaryngol 24: 246-249, 2003. 4) 吉川文弘，椿本有利子，他：口蓋小唾液腺原発腫瘍の臨床的検討．口科誌 46: 55-59, 1997. 12) Li XM, Yu JQ, et al : Solitary fibrous tumor of the soft palate: A report of two cases. Oncol Lett 7: 1975-1977, 2014. 11) Cox DP, Daniels T, et al : Solitary fibrous tumor of the head and neck. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 110: 79-84, 2010. 26) 石田佳毅，八橋明子，他：高齢者に発生した舌孤立性線維性腫瘍の1例．日口外誌 63: 582-586, 2017. 25) 山本雅大，池畑正宏，他：切除11年後に肺転移をきたした口腔原発胸膜外孤立性線維性腫瘍の1例．診断病理 24: 209-211, 2007. 20) Smith SC, Gooding WE, et al : Solitary Fibrous Tumors of the Head and Neck: A Multi-Institutional Clinicopathologic Study. Am J Surg Pathol 41: 1642-1656, 2017. 22) Ganly I, Patel SG, et al : Solitary fibrous tumors of the head and neck: a clinicopathologic and radiologic review. Arch Otolaryngol Head Neck Surg 132: 517-525, 2006. 32) Fritchie KJ, Jin L, et al : NAB2-STAT6 Gene Fusion in Meningeal Hemangiopericytoma and Solitary Fibrous Tumor. J Neuropathol Exp Neurol 75: 263-271, 2016. 33) Huang SC, Li CF, et al : The clinicopathological significance of NAB2-STAT6 gene fusions in 52 cases of intrathoracic solitary fibrous tumors. Cancer Med 5: 159-168, 2016. 23) Schirmang TC, Davis LM, et al : Solitary fibrous tumor of the buccal space : treatment with percutaneous cryoablation. AJNR Am J Neuroradiol 28: 1728-1730, 2007. 18) Miller R, Mehta V, et al : Malignant solitary fibrous tumor of the floor of the mouth in a 71-year-old male: A case report. Radiol Case Rep 17: 4828-4833, 2022. 30) Chmielecki J, Crago AM, et al : Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors. Nat Genet 45: 131-132, 2013. 28) Dudde F, Giese M, et al : Metastasis of a Solitary Fibrous Tumor in the Mandible: A Case Report. Cancer Diagn Progn 3: 107-114, 2023. 34) Georgiesh T, Namløs HM, et al : Clinical and molecular implications of NAB2-STAT6 fusion variants in solitary fibrous tumour. Pathology 53: 713-719, 2021. 19) Boschetti CE, Vitagliano R, et al : Solitary Extrapleural Fibrous Tumor in Salivary Glands: Our Experience-Case Series and Literature Review. Diagnostics（Basel） 12, 2022. 21) Marti-Flich L, Schlund M, et al : Surgical treatment outcomes of solitary fibrous tumors in the head and neck: A retrospective study. J Craniomaxillofac Surg 51: 381-386, 2023. 31) Barthelmeß S, Geddert H, et al : Solitary fibrous tumors/hemangiopericytomas with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features. Am J Pathol 184: 1209-1218, 2014. |
| References_xml | – reference: 29) Robinson DR, Wu YM, et al : Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing. Nat Genet 45: 180-185, 2013. – reference: 33) Huang SC, Li CF, et al : The clinicopathological significance of NAB2-STAT6 gene fusions in 52 cases of intrathoracic solitary fibrous tumors. Cancer Med 5: 159-168, 2016. – reference: 13) 田窪千子，小谷 勇，他： 下顎骨に生じた悪性血管周皮腫 (孤立性線維性腫瘍) の1例．日口外誌 61: 158-163, 2015. – reference: 2) Demicco EG, Fritchie KJ, et al : Solitary fibrous tumor. In Demicco EG, Fritchie KJ, et al ; WHO Classification of Tumours, Soft Tissue and Bone Tumours. IARC Press, Lyon, 2020, p104-108. – reference: 8) Ogawa I, Sato S, et al : Solitary fibrous tumor with malignant potential arising in sublingual gland. Pathol Int 53: 40-45, 2003. – reference: 14) Nobusawa A, Negishi A, et al : Solitary fibrous tumor composing benign and malignant components in the floor of the mouth: A case report. Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology 27: 267-270, 2015. – reference: 31) Barthelmeß S, Geddert H, et al : Solitary fibrous tumors/hemangiopericytomas with different variants of the NAB2-STAT6 gene fusion are characterized by specific histomorphology and distinct clinicopathological features. Am J Pathol 184: 1209-1218, 2014. – reference: 24) Raghani N, Raghani MJ, et al : Hemangiopericytoma/Solitary Fibrous Tumor of the Buccal Mucosa. Ann Maxillofac Surg 8: 151-153, 2018. – reference: 10) Yang XJ, Zheng JW, et al : Malignant solitary fibrous tumors of the head and neck: a clinicopathological study of nine consecutive patients. Oral Oncol 45: 678-682, 2009. – reference: 4) 吉川文弘，椿本有利子，他：口蓋小唾液腺原発腫瘍の臨床的検討．口科誌 46: 55-59, 1997. – reference: 30) Chmielecki J, Crago AM, et al : Whole-exome sequencing identifies a recurrent NAB2-STAT6 fusion in solitary fibrous tumors. Nat Genet 45: 131-132, 2013. – reference: 17) 園部 侑里，越塚 慶一，他：悪性所見を伴う口蓋孤立性線維性腫瘍例．耳鼻臨床 114: 443-449, 2021. – reference: 32) Fritchie KJ, Jin L, et al : NAB2-STAT6 Gene Fusion in Meningeal Hemangiopericytoma and Solitary Fibrous Tumor. J Neuropathol Exp Neurol 75: 263-271, 2016. – reference: 3) 木田久美子，小倉孝文：下顎歯肉に発生した孤立性線維性腫瘍の1例．日口外誌 62: 539-543, 2016. – reference: 27) 井東朗子，田窪千子，他：頰部に生じた孤立性線維性腫瘍の2例．日口外誌 64: 412-417, 2018. – reference: 16) Iorio B, Ronchi A, et al : Malignant extrapleural solitary fibrous tumor arising in the sublingual gland: A case report and review of literature. Oral Oncol 90:141-144, 2019. – reference: 19) Boschetti CE, Vitagliano R, et al : Solitary Extrapleural Fibrous Tumor in Salivary Glands: Our Experience-Case Series and Literature Review. Diagnostics（Basel） 12, 2022. – reference: 28) Dudde F, Giese M, et al : Metastasis of a Solitary Fibrous Tumor in the Mandible: A Case Report. Cancer Diagn Progn 3: 107-114, 2023. – reference: 20) Smith SC, Gooding WE, et al : Solitary Fibrous Tumors of the Head and Neck: A Multi-Institutional Clinicopathologic Study. Am J Surg Pathol 41: 1642-1656, 2017. – reference: 25) 山本雅大，池畑正宏，他：切除11年後に肺転移をきたした口腔原発胸膜外孤立性線維性腫瘍の1例．診断病理 24: 209-211, 2007. – reference: 26) 石田佳毅，八橋明子，他：高齢者に発生した舌孤立性線維性腫瘍の1例．日口外誌 63: 582-586, 2017. – reference: 1) Klemperer P and Rabin CB : Primary neoplasms of the pleura. A report of five cases. Arch Pathol 11: 385-412, 1931. – reference: 9) Vimi S, Punnya VA, et al : An aggressive solitary fibrous tumor with evidence of malignancy: a rare case report. Head Neck Pathol 2: 236-241, 2008. – reference: 11) Cox DP, Daniels T, et al : Solitary fibrous tumor of the head and neck. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 110: 79-84, 2010. – reference: 6) Sun Y, Naito Z, et al : Basic FGF and Ki-67 proteins useful for immunohistological diagnostic evaluations in malignant solitary fibrous tumor. Pathol Int 53: 284-290, 2003. – reference: 12) Li XM, Yu JQ, et al : Solitary fibrous tumor of the soft palate: A report of two cases. Oncol Lett 7: 1975-1977, 2014. – reference: 5) Tariq MU, Din NU, et al : The many faces of solitary fibrous tumor; diversity of histological features, differential diagnosis and role of molecular studies and surrogate markers in avoiding misdiagnosis and predicting the behavior. Diagn Pathol 16: 32, 2021. – reference: 21) Marti-Flich L, Schlund M, et al : Surgical treatment outcomes of solitary fibrous tumors in the head and neck: A retrospective study. J Craniomaxillofac Surg 51: 381-386, 2023. – reference: 15) Kao YC, Lin PC, et al : Clinicopathological and genetic heterogeneity of the head and neck solitary fibrous tumours: a comparative histological, immunohistochemical and molecular study of 36 cases. Histopathology 68: 492-501, 2016. – reference: 7) Shnayder Y, Greenfield BJ, et al : Malignant solitary fibrous tumor of the tongue. Am J Otolaryngol 24: 246-249, 2003. – reference: 23) Schirmang TC, Davis LM, et al : Solitary fibrous tumor of the buccal space : treatment with percutaneous cryoablation. AJNR Am J Neuroradiol 28: 1728-1730, 2007. – reference: 18) Miller R, Mehta V, et al : Malignant solitary fibrous tumor of the floor of the mouth in a 71-year-old male: A case report. Radiol Case Rep 17: 4828-4833, 2022. – reference: 22) Ganly I, Patel SG, et al : Solitary fibrous tumors of the head and neck: a clinicopathologic and radiologic review. Arch Otolaryngol Head Neck Surg 132: 517-525, 2006. – reference: 34) Georgiesh T, Namløs HM, et al : Clinical and molecular implications of NAB2-STAT6 fusion variants in solitary fibrous tumour. Pathology 53: 713-719, 2021. |
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| SubjectTerms | NAB2 exon6-STAT6 exon17 上顎 中間悪性 まれに転移 孤立性線維腫 転移リスク |
| Title | NAB2-STAT6 融合遺伝子の発現を認め中等度の転移リスクが示唆された上顎孤立性線維腫の1例 |
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