腹膜播種を伴う下行結腸腫瘍に対し審査腹腔鏡で診断に至ったnuclear protein in testis midline carcinomaの1例
症例は37歳の男性で，腹部膨満，食思不振，体重減少で前医を受診された．当院に紹介となり，CTで多量の腹水と下行結腸腫瘍，腹膜播種を認め，下部消化管内視鏡検査で下行結腸に不整な隆起を伴う全周性の1型腫瘍を認めた．PET-CTで下行結腸腫瘍，鎖骨上窩・縦隔・傍胸骨・腹膜・大網にFDGの集積を認めた．下行結腸腫瘍の生検で確定診断に至らず，審査腹腔鏡を施行した．免疫染色検査でNUT陽性，FISH法でNUT遺伝子の再構成を認めnuclear protein in testis midline carcinomaと診断した．多剤併用化学療法を施行したが，急速な病状の進行により初診から約6か月で永眠された．...
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| Published in | 日本消化器外科学会雑誌 Vol. 56; no. 1; pp. 27 - 33 |
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| Main Authors | , , , , , , , , , , |
| Format | Journal Article |
| Language | Japanese |
| Published |
一般社団法人 日本消化器外科学会
01.01.2023
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| Subjects | |
| Online Access | Get full text |
| ISSN | 0386-9768 1348-9372 |
| DOI | 10.5833/jjgs.2022.0031 |
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| Abstract | 症例は37歳の男性で，腹部膨満，食思不振，体重減少で前医を受診された．当院に紹介となり，CTで多量の腹水と下行結腸腫瘍，腹膜播種を認め，下部消化管内視鏡検査で下行結腸に不整な隆起を伴う全周性の1型腫瘍を認めた．PET-CTで下行結腸腫瘍，鎖骨上窩・縦隔・傍胸骨・腹膜・大網にFDGの集積を認めた．下行結腸腫瘍の生検で確定診断に至らず，審査腹腔鏡を施行した．免疫染色検査でNUT陽性，FISH法でNUT遺伝子の再構成を認めnuclear protein in testis midline carcinomaと診断した．多剤併用化学療法を施行したが，急速な病状の進行により初診から約6か月で永眠された．Nuclear protein in testis midline carcinomaは遺伝子異常を有する非常にまれな疾患である．疾患特異的な組織像がなく進行期で発見されることが多い．現時点で効果的な治療法は確立しておらず，今後も症例の蓄積と検討が必要である． |
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| AbstractList | 症例は37歳の男性で，腹部膨満，食思不振，体重減少で前医を受診された．当院に紹介となり，CTで多量の腹水と下行結腸腫瘍，腹膜播種を認め，下部消化管内視鏡検査で下行結腸に不整な隆起を伴う全周性の1型腫瘍を認めた．PET-CTで下行結腸腫瘍，鎖骨上窩・縦隔・傍胸骨・腹膜・大網にFDGの集積を認めた．下行結腸腫瘍の生検で確定診断に至らず，審査腹腔鏡を施行した．免疫染色検査でNUT陽性，FISH法でNUT遺伝子の再構成を認めnuclear protein in testis midline carcinomaと診断した．多剤併用化学療法を施行したが，急速な病状の進行により初診から約6か月で永眠された．Nuclear protein in testis midline carcinomaは遺伝子異常を有する非常にまれな疾患である．疾患特異的な組織像がなく進行期で発見されることが多い．現時点で効果的な治療法は確立しておらず，今後も症例の蓄積と検討が必要である． |
| Author | 日野, 倫子 前川, 毅 植木, 智之 小島, 正継 清水, 智治 飯田, 洋也 土橋, 果実 貝田, 佐知子 谷, 眞至 三宅, 亨 九嶋, 亮治 |
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| References | 13) Mertens F, Wiebe T, Adlercreutz C, Mandahl N, French A. Successful treatment of a child with t(15;19)-positive tumor. Pediatr Blood Cancer. 2007;49:1015–1017. 4) Giridhar P, Mallick S, Kashyap L, Rath GK. Patterns of care and impact of prognostic factors in the outcome of NUT midline carcinoma: a systematic review and individual patient data analysis of 119 cases. Eur Arch Otorhinolaryngol. 2018;275:815–821. 10) Oliveira LJC, Gongora ABL, Latancia MT, Barbosa FG, Gregorio JVA, Testagrossa LA, et al. The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report. J Med Case Rep. 2019;13:279. 12) Chau NG, Ma C, Danga K, Al-Sayegh H, Nardi V, Barrette R, et al. An anatomical site and genetic-based prognostic model for patients with nuclear protein in testis (NUT) midline carcinoma: analysis of 124 patients. JNCI Cancer Spectr. 2019;4:pkz094. 9) Haack H, Johnson LA, Fry CJ, Crosby K, Polakiewicz RD, Stelow EB, et al. Diagnosis of NUT midline carcinoma using a NUT-specific monoclonal antibody. Am J Surg Pathol. 2009;33:984–991. 11) Riess JW, Rahman S, Kian W, Edgerly C, Heilmann AM, Madison R, et al. Genomic profiling of solid tumors harboring BRD4-NUT and response to immune checkpoint inhibitors. Transl Oncol. 2021;14:101184. 14) Davis BN, Karabakhtsian RG, Pettigrew AL, Arnold AM, French CA, Brill YM. Nuclear protein in testis midline carcinomas: a lethal and underrecognized entity. Arch Pathol Lab Med. 2011;135:1494–1498. 2) 名和田 彩，島尻 正平，松木 康真，笹栗 毅和，中山 敏幸．“abrupt keratinization”を呈さなかった副鼻腔発症NUT癌の2例．診断病理．2018;35(3):247–252. 5) Chau NG, Hurwitz S, Mitchell CM, Aserlind A, Grunfeld N, Kaplan L, et al. Intensive treatment and survival outcomes in NUT midline carcinoma of the head and neck. Cancer. 2016;122:3632–3640. 16) Filippakopoulos P, Qi J, Picaud S, Shen Y, Smith WB, Fedorov O, et al. Selective inhibition of BET bromodomains. Nature. 2010;468:1067–1073. 1) French CA, Miyoshi I, Kubonishi I, Grier HE, Perez-Atayde AR, Fletcher JA. BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma. Cancer Res. 2003;63:304–307. 15) Ueki H, Maeda N, Sekimizu M, Yamashita Y, Moritani S, Horibe K. A case of NUT midline carcinoma with complete response to gemcitabine following cisplatin and docetaxel. J Pediatr Hematol Oncol. 2014;36:476–480. 8) 加藤 諒，及川 卓，水野 史朗，長内 和弘，栂 博久，湊 宏．肺原発NUT midline carcinomaの1例．肺癌．2015;55:1080–1085. 3) El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ, editors. WHO Classification of head and neck tumours. Lyon: International Agency for Research on Cancer; 2017. p. 20. 6) French CA. Demystified molecular pathology of NUT midline carcinomas. J Clin Pathol. 2010;63:492–496. 17) Stathis A, Zucca E, Bekradda M, Gomez-Roca C, Delord JP, de La Motte Rouge T, et al. Clinical response of carcinomas harboring the BRD4-NUT oncoprotein to the targeted bromodomain inhibitor OTX015/MK-8628. Cancer Discov. 2016;6:492–500. 7) Bauer DE, Mitchell CM, Strait KM, Lathan CS, Stelow EB, Lüer SC, et al. Clinicopathologic features and long-term outcomes of NUT midline carcinoma. Clin Cancer Res. 2012;18:5773–5779. |
| References_xml | – reference: 12) Chau NG, Ma C, Danga K, Al-Sayegh H, Nardi V, Barrette R, et al. An anatomical site and genetic-based prognostic model for patients with nuclear protein in testis (NUT) midline carcinoma: analysis of 124 patients. JNCI Cancer Spectr. 2019;4:pkz094. – reference: 4) Giridhar P, Mallick S, Kashyap L, Rath GK. Patterns of care and impact of prognostic factors in the outcome of NUT midline carcinoma: a systematic review and individual patient data analysis of 119 cases. Eur Arch Otorhinolaryngol. 2018;275:815–821. – reference: 13) Mertens F, Wiebe T, Adlercreutz C, Mandahl N, French A. Successful treatment of a child with t(15;19)-positive tumor. Pediatr Blood Cancer. 2007;49:1015–1017. – reference: 15) Ueki H, Maeda N, Sekimizu M, Yamashita Y, Moritani S, Horibe K. A case of NUT midline carcinoma with complete response to gemcitabine following cisplatin and docetaxel. J Pediatr Hematol Oncol. 2014;36:476–480. – reference: 17) Stathis A, Zucca E, Bekradda M, Gomez-Roca C, Delord JP, de La Motte Rouge T, et al. Clinical response of carcinomas harboring the BRD4-NUT oncoprotein to the targeted bromodomain inhibitor OTX015/MK-8628. Cancer Discov. 2016;6:492–500. – reference: 9) Haack H, Johnson LA, Fry CJ, Crosby K, Polakiewicz RD, Stelow EB, et al. Diagnosis of NUT midline carcinoma using a NUT-specific monoclonal antibody. Am J Surg Pathol. 2009;33:984–991. – reference: 14) Davis BN, Karabakhtsian RG, Pettigrew AL, Arnold AM, French CA, Brill YM. Nuclear protein in testis midline carcinomas: a lethal and underrecognized entity. Arch Pathol Lab Med. 2011;135:1494–1498. – reference: 16) Filippakopoulos P, Qi J, Picaud S, Shen Y, Smith WB, Fedorov O, et al. Selective inhibition of BET bromodomains. Nature. 2010;468:1067–1073. – reference: 10) Oliveira LJC, Gongora ABL, Latancia MT, Barbosa FG, Gregorio JVA, Testagrossa LA, et al. The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report. J Med Case Rep. 2019;13:279. – reference: 6) French CA. Demystified molecular pathology of NUT midline carcinomas. J Clin Pathol. 2010;63:492–496. – reference: 8) 加藤 諒，及川 卓，水野 史朗，長内 和弘，栂 博久，湊 宏．肺原発NUT midline carcinomaの1例．肺癌．2015;55:1080–1085. – reference: 5) Chau NG, Hurwitz S, Mitchell CM, Aserlind A, Grunfeld N, Kaplan L, et al. Intensive treatment and survival outcomes in NUT midline carcinoma of the head and neck. Cancer. 2016;122:3632–3640. – reference: 2) 名和田 彩，島尻 正平，松木 康真，笹栗 毅和，中山 敏幸．“abrupt keratinization”を呈さなかった副鼻腔発症NUT癌の2例．診断病理．2018;35(3):247–252. – reference: 11) Riess JW, Rahman S, Kian W, Edgerly C, Heilmann AM, Madison R, et al. Genomic profiling of solid tumors harboring BRD4-NUT and response to immune checkpoint inhibitors. Transl Oncol. 2021;14:101184. – reference: 1) French CA, Miyoshi I, Kubonishi I, Grier HE, Perez-Atayde AR, Fletcher JA. BRD4-NUT fusion oncogene: a novel mechanism in aggressive carcinoma. Cancer Res. 2003;63:304–307. – reference: 3) El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ, editors. WHO Classification of head and neck tumours. Lyon: International Agency for Research on Cancer; 2017. p. 20. – reference: 7) Bauer DE, Mitchell CM, Strait KM, Lathan CS, Stelow EB, Lüer SC, et al. Clinicopathologic features and long-term outcomes of NUT midline carcinoma. Clin Cancer Res. 2012;18:5773–5779. |
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| Snippet | 症例は37歳の男性で，腹部膨満，食思不振，体重減少で前医を受診された．当院に紹介となり，CTで多量の腹水と下行結腸腫瘍，腹膜播種を認め，下部消化管内視鏡検査で下行... |
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| SubjectTerms | NUT carcinoma 審査腹腔鏡 結腸腫瘍 |
| Title | 腹膜播種を伴う下行結腸腫瘍に対し審査腹腔鏡で診断に至ったnuclear protein in testis midline carcinomaの1例 |
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