157
Views
3
CrossRef citations to date
0
Altmetric
Case Report

Diagnosis of NUT Carcinoma Despite False-Negative Next-Generation Sequencing Results: A Case Report and Literature Review

, , , , ORCID Icon, & show all
Pages 4621-4633 | Published online: 27 Aug 2021

References

  • 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(2):304–7.
  • Alekseyenko AA, Walsh EM, Zee BM, et al. Ectopic protein interactions within BRD4-chromatin complexes drive oncogenic megadomain formation in NUT midline carcinoma. Proc Natl Acad Sci U S A. 2017;114(21):E4184–E4192. doi:10.1073/pnas.1702086114
  • Suzuki S, Kurabe N, Ohnishi I, et al. NSD3-NUT-expressing midline carcinoma of the lung: first characterization of primary cancer tissue. Pathol Res Pract. 2015;211(5):404–408. doi:10.1016/j.prp.2014.10.013
  • Cheng Z, Luo Y, Zhang Y, et al. A novel NAP1L4/NUTM1 fusion arising from translocation t(11;15)(p15;q12) in a myeloid neoplasm with eosinophilia and rearrangement of PDGFRA highlights an unusual clinical feature and therapeutic reaction. Ann Hematol. 2020;99(7):1561–1564. doi:10.1007/s00277-020-04000-x
  • Bishop JA, Westra WH. NUT midline carcinomas of the sinonasal tract. Am J Surg Pathol. 2012;36(8):1216–1221. doi:10.1097/PAS.0b013e318254ce54
  • French CA, Rahman S, Walsh EM, et al. NSD3-NUT fusion oncoprotein in NUT midline carcinoma: implications for a novel oncogenic mechanism. Cancer Discov. 2014;4(8):928–941. doi:10.1158/2159-8290.CD-14-0014
  • Thompson LDR, Franchi A. New tumor entities in the 4th edition of the World Health Organization classification of head and neck tumors: nasal cavity, paranasal sinuses and skull base. Virchows Arch. 2018;472(3):315–330. doi:10.1007/s00428-017-2116-0
  • Haack H, Johnson LA, Fry CJ, et al. Diagnosis of NUT midline carcinoma using a NUT-specific monoclonal antibody. Am J Surg Pathol. 2009;33(7):984–991. doi:10.1097/PAS.0b013e318198d666
  • Bishop JA, French CA, Ali SZ. Cytopathologic features of NUT midline carcinoma: a series of 26 specimens from 13 patients. Cancer Cytopathol. 2016;124(12):901–908. doi:10.1002/cncy.21761
  • Kohei M, Kashima J, Yatabe Y. The isoform matters in NUT carcinoma: a diagnostic pitfall of p40 immunohistochemistry. J Thorac Oncol. 2020;15(10):e176–e178. doi:10.1016/j.jtho.2020.07.017
  • Prall OWJ, Thio N, Yerneni S, Kumar B, McEvoy CR. A NUT carcinoma lacking squamous differentiation and expressing TTF1. Pathology. 2021;53(5):663–666. doi:10.1016/j.pathol.2020.09.027
  • Satoe N, Saito K, Motoi N, et al. P63-negative pulmonary NUT carcinoma arising in the elderly: a case report. Diagn Pathol. 2020;15(1):134. doi:10.1186/s13000-020-01053-4
  • Ciftci E, Demirsoy U, Anik Y, Gorur G, Corapcioglu F, Demir H. Staging and evaluation of neoadjuvant chemotherapy response with (1)(8) F-FDGPET/CT in NUT-midline carcinoma in a child: a case report and review of the literature. Rev Esp Med Nucl Imagen Mol. 2015;34(1):53–55.
  • Mao N, Liao Z, Wu J, et al. Diagnosis of NUT carcinoma of lung origin by next-generation sequencing: case report and review of the literature. Cancer Biol Ther. 2019;20(2):150–156. doi:10.1080/15384047.2018.1523852
  • Hsieh MS, French CA, Liang CW, Hsiao CH. NUT midline carcinoma: case report and review of the literature. Int J Surg Pathol. 2011;19(6):808–812. doi:10.1177/1066896909353600
  • Harms A, Herpel E, Pfarr N, et al. NUT carcinoma of the thorax: case report and review of the literature. Lung Cancer. 2015;90(3):484–491. doi:10.1016/j.lungcan.2015.10.001
  • Nakamura H, Tsuta K, Tsuda H, et al. NUT midline carcinoma of the mediastinum showing two types of poorly differentiated tumor cells: a case report and a literature review. Pathol Res Pract. 2015;211(1):92–98. doi:10.1016/j.prp.2014.07.006
  • Oliveira LJC, Gongora ABL, Latancia MT, et al. The first report of molecular characterized BRD4-NUT carcinoma in Brazil: a case report. J Med Case Rep. 2019;13(1):279. doi:10.1186/s13256-019-2213-6
  • Harada Y, Koyama T, Takeuchi K, Shoji K, Hoshi K, Oyama Y. NUT midline carcinoma mimicking a germ cell tumor: a case report. BMC Cancer. 2016;16(1):895. doi:10.1186/s12885-016-2944-3
  • D’Ambrosio L, Palesandro E, Moretti M, et al. Alpha-fetoprotein elevation in NUT midline carcinoma: a case report. BMC Cancer. 2017;17(1):266. doi:10.1186/s12885-017-3262-0
  • Suzuki S, Kurabe N, Minato H, et al. A rare Japanese case with a NUT midline carcinoma in the nasal cavity: a case report with immunohistochemical and genetic analyses. Pathol Res Pract. 2014;210(6):383–388. doi:10.1016/j.prp.2014.01.013
  • Li YY, Liu Y, Ke XX, Lu Y. The primary pulmonary NUT carcinomas and some uncommon somatic mutations identified by next-generation sequencing: a case report. AME Case Rep. 2020;4:24. doi:10.21037/acr-19-168
  • McLean-Holden AC, Moore SA, Gagan J, et al. NUT carcinoma in a patient with unusually long survival and false negative FISH results. Head Neck Pathol. 2020;15(2):698–703.
  • Kakkar A, Antony VM, Irugu DVK, Adhikari N, Jain D. NUT midline carcinoma: a series of five cases, including one with unusual clinical course. Head Neck Pathol. 2018;12(2):230–236. doi:10.1007/s12105-017-0858-2
  • Van Treeck BJ, Thangaiah JJ, Torres-Mora J, et al. NUTM1-rearranged colorectal sarcoma: a clinicopathologically and genetically distinctive malignant neoplasm with a poor prognosis. Mod Pathol. 2021;34(8):1547–1557. doi:10.1038/s41379-021-00792-z
  • Chen M, Yang J, Lv L, et al. Comprehensive genetic profiling of six pulmonary NUT carcinomas with a novel micropapillary histological subtype in two cases. Hum Pathol. 2021;115:56–66. doi:10.1016/j.humpath.2021.02.004
  • Saik WN, Da Forno P, Thway K, Khurram SA. NUT carcinoma arising from the parotid gland: a case report and review of the literature. Head Neck Pathol. 2020. doi:10.1007/s12105-020-01254-91
  • D’Souza JN, Notz G, Bogdasarian RN, et al. Orbital involvement by NUT midline carcinoma. Ophthalmic Plast Reconstr Surg. 2015;31(6):e147–150. doi:10.1097/IOP.0000000000000179
  • Cho HJ, Lee HK. Lung nuclear protein in testis carcinoma in an elderly Korean woman: a case report with cytohistological analysis. Thorac Cancer. 2020;11(6):1724–1727. doi:10.1111/1759-7714.13438
  • Arimizu K, Hirano G, Makiyama C, Matsuo M, Sasaguri T, Makiyama A. NUT carcinoma of the nasal cavity that responded to a chemotherapy regimen for Ewing’s sarcoma family of tumors: a case report. BMC Cancer. 2018;18(1):1134. doi:10.1186/s12885-018-5087-x
  • Andreasen S, French CA, Josiassen M, Hahn CH, Kiss K. NUT carcinoma of the sublingual gland. Head Neck Pathol. 2016;10(3):362–366. doi:10.1007/s12105-015-0672-7
  • Bjornstrup LR, Reibel J, Kiss K, Schioedt M. NUT carcinoma presenting in the palate - a case report. APMIS. 2017;125(10):933–936. doi:10.1111/apm.12710
  • Boleto G, Perotin JM, Launois C, et al. Nuclear protein in testis carcinoma of the mediastinum: a case report. J Med Case Rep. 2017;11(1):152. doi:10.1186/s13256-017-1328-x
  • Cao J, Chen D, Yang F, Yao J, Zhu W, Zhao C. NUT midline carcinoma as a primary lung tumor: a case report. J Thorac Dis. 2017;9(12):E1045–E1049. doi:10.21037/jtd.2017.11.50
  • Chai P, Zhou C, Jia R, Wang Y. Orbital involvement by NUT midline carcinoma: new presentation and encouraging outcome managed by radiotherapy combined with tyrosine kinase inhibitor: a case report. Diagn Pathol. 2020;15(1):2. doi:10.1186/s13000-019-0922-1
  • Cho YA, Choi YL, Hwang I, Lee K, Cho JH, Han J. Clinicopathological characteristics of primary lung nuclear protein in testis carcinoma: a single-institute experience of 10 cases. Thorac Cancer. 2020;11(11):3205–3212. doi:10.1111/1759-7714.13648
  • den Bakker MA, Beverloo BH, van den Heuvel-eibrink MM, et al. NUT midline carcinoma of the parotid gland with mesenchymal differentiation. Am J Surg Pathol. 2009;33(8):1253–1258. doi:10.1097/PAS.0b013e3181abe120
  • Dragoescu E, French C, Cassano A, Baker S Jr., Chafe W. NUT midline carcinoma presenting with bilateral ovarian metastases: a case report. Int J Gynecol Pathol. 2015;34(2):136–142. doi:10.1097/PGP.0000000000000129
  • Baine MJ, Elkhatib SK, Neilsen BK, Sleightholm RL, Zhen W. A 47-year-old woman with nuclear protein in testis midline carcinoma masquerading as a sinus infection: a case report and review of the literature. J Med Case Rep. 2019;13(1):57. doi:10.1186/s13256-019-2015-x
  • Gokmen-Polar Y, Kesler K, Loehrer PJ Sr., Badve S. NUT midline carcinoma masquerading as a thymic carcinoma. J Clin Oncol. 2016;34(14):e126–e129. doi:10.1200/JCO.2013.51.1741
  • Klijanienko J, Le Tourneau C, Rodriguez J, Caly M, Theocharis S. Cytological features of NUT midline carcinoma arising in sino-nasal tract and parotid gland: report of two new cases and review of the literature. Diagn Cytopathol. 2016;44(9):753–756. doi:10.1002/dc.23506
  • Kuroda S, Suzuki S, Kurita A, et al. Cytological features of a variant NUT midline carcinoma of the lung harboring the NSD3-NUT fusion gene: a case report and literature review. Case Rep Pathol. 2015;2015:572951.
  • Chen L, Ma Y, Feng J, Xiao X. NUT midline carcinoma in the mediastinum in a ten-year-old boy. Arch Bronconeumol. 2018;54(10):539–541. doi:10.1016/j.arbres.2017.09.010
  • Mills AF, Lanfranchi M, Wein RO, et al. NUT midline carcinoma: a case report with a novel translocation and review of the literature. Head Neck Pathol. 2014;8(2):182–186. doi:10.1007/s12105-013-0479-3
  • Policarpio-Nicolas ML, de Leon EM, Jagirdar J. Cytologic findings of NUT midline carcinoma in the hilum of the lung. Diagn Cytopathol. 2015;43(9):739–742. doi:10.1002/dc.23291
  • Rutt AL, Poulik J, Siddiqui AH, et al. NUT midline carcinoma mimicking tonsillitis in an eight-year-old girl. Ann Otol Rhinol Laryngol. 2011;120(8):546–549. doi:10.1177/000348941112000810
  • Shehata BM, Steelman CK, Abramowsky CR, et al. NUT midline carcinoma in a newborn with multiorgan disseminated tumor and a 2-year-old with a pancreatic/hepatic primary. Pediatr Dev Pathol. 2010;13(6):481–485. doi:10.2350/09-10-0727-CR.1
  • Ball A, Bromley A, Glaze S, French CA, Ghatage P, Kobel M. A rare case of NUT midline carcinoma. Gynecol Oncol Case Rep. 2012;3:1–3.
  • 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(8):e476–e480. doi:10.1097/MPH.0000000000000082
  • Zhang H, Liu MH, Zhang J, et al. Successful treatment of a case with NUT midline carcinoma in the larynx and review of the literature. Clin Case Rep. 2020;8(1):176–181. doi:10.1002/ccr3.2568
  • Zhou L, Yong X, Zhou J, Xu J, Wang C. Clinicopathological analysis of five cases of NUT midline carcinoma, including one with the gingiva. Biomed Res Int. 2020;2020:9791208.
  • Lee JK, Louzada S, An Y, et al. Complex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma. Ann Oncol. 2017;28(4):890–897. doi:10.1093/annonc/mdw686
  • McLeer-Florin A, Moro-Sibilot D, Melis A, et al. Dual IHC and FISH testing for ALK gene rearrangement in lung adenocarcinomas in a routine practice. J Thorac Oncol. 2012;7(2):348–354. doi:10.1097/JTO.0b013e3182381535
  • Camidge DR, Kono SA, Flacco A, et al. Optimizing the detection of lung cancer patients harboring anaplastic lymphoma kinase (ALK) gene rearrangements potentially suitable for ALK inhibitor treatment. Clin Cancer Res. 2010;16(22):5581–5590. doi:10.1158/1078-0432.CCR-10-0851
  • Davies KD, Le AT, Sheren J, et al. Comparison of molecular testing modalities for detection of ROS1 rearrangements in a cohort of positive patient samples. J Thorac Oncol. 2018;13(10):1474–1482. doi:10.1016/j.jtho.2018.05.041
  • Camidge DR, Skokan M, Kiatsimkul P, et al. Native and rearranged ALK copy number and rearranged cell count in non-small cell lung cancer: implications for ALK inhibitor therapy. Cancer. 2013;119(22):3968–3975. doi:10.1002/cncr.28311
  • Rogers TM, Russell PA, Wright G, et al. Comparison of methods in the detection of ALK and ROS1 rearrangements in lung cancer. J Thorac Oncol. 2015;10(4):611–618. doi:10.1097/JTO.0000000000000465
  • Mino-Kenudson M, Chirieac LR, Law K, et al. A novel, highly sensitive antibody allows for the routine detection of ALK-rearranged lung adenocarcinomas by standard immunohistochemistry. Clin Cancer Res. 2010;16(5):1561–1571. doi:10.1158/1078-0432.CCR-09-2845
  • Ren S, Hirsch FR, Varella-Garcia M, et al. Atypical negative ALK break-apart FISH harboring a crizotinib-responsive ALK rearrangement in non-small-cell lung cancer. J Thorac Oncol. 2014;9(3):e21–23. doi:10.1097/JTO.0000000000000013
  • Heydt C, Ruesseler V, Pappesch R, et al. Comparison of in situ and extraction-based methods for the detection of ROS1 rearrangements in solid tumors. J Mol Diagn. 2019;21(6):971–984. doi:10.1016/j.jmoldx.2019.06.006
  • Dacic S, Villaruz LC, Abberbock S, Mahaffey A, Incharoen P, Nikiforova MN. ALK FISH patterns and the detection of ALK fusions by next generation sequencing in lung adenocarcinoma. Oncotarget. 2016;7(50):82943–82952. doi:10.18632/oncotarget.12705
  • Sholl LM, Weremowicz S, Gray SW, et al. Combined use of ALK immunohistochemistry and FISH for optimal detection of ALK-rearranged lung adenocarcinomas. J Thorac Oncol. 2013;8(3):322–328. doi:10.1097/JTO.0b013e31827db604
  • Song Z, Lu C, Xu CW, Zheng Z. Noncanonical gene fusions detected at the DNA level necessitate orthogonal diagnosis methods before targeted therapy. J Thorac Oncol. 2021;16(3):344–348. doi:10.1016/j.jtho.2020.12.006
  • Yun JW, Yang L, Park HY, et al. Dysregulation of cancer genes by recurrent intergenic fusions. Genome Biol. 2020;21(1):166. doi:10.1186/s13059-020-02076-2
  • McEvoy CR, Holliday H, Thio N, et al. A MXI1-NUTM1 fusion protein with MYC-like activity suggests a novel oncogenic mechanism in a subset of NUTM1-rearranged tumors. Lab Invest. 2021;101(1):26–37. doi:10.1038/s41374-020-00484-3
  • Li W, Liu Y, Li W, Chen L. Intergenic breakpoints identified by DNA sequencing confound targetable kinase fusion detection in NSCLC. J Thorac Oncol. 2020;15(7):1223–31.
  • Li W, Guo L, Liu Y. Potential unreliability of uncommon ALK, ROS1, and RET genomic breakpoints in predicting the efficacy of targeted therapy in NSCLC. J Thorac Oncol. 2021;16(3):404–18.
  • Cohen D, Hondelink LM, Solleveld-Westerink N. Optimizing mutation and fusion detection in NSCLC by sequential DNA and RNA sequencing. J Thorac Oncol. 2020;15(6):1000–1014. doi:10.1016/j.jtho.2020.01.019