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01-06-2020 | Case Report

(Mammary Analogue) Secretory Carcinoma of the Nasal Cavity: Report of a Rare Case with p63 and DOG1 Expression and Uncommon Exon 4–Exon 14 ETV6-NTRK3 Fusion Diagnosed with Next Generation Sequencing

Authors: Bingcheng Wu, Thomas Kwok Seng Loh, Tomas Vanecek, Michal Michal, Fredrik Petersson

Published in: Head and Neck Pathology | Issue 2/2020

Abstract

We present a 72 years old male with a left nasal cavity (mammary analogue) secretory carcinoma (SC) which exhibited classical morphological features on light microscopical examination, diffuse strong S100 and mammoglobin positivity on immunohistochemistry, and ETV6-NTRK3 gene fusion on next generation sequencing (NGS) analysis. Unusual features of this tumor are expression of p63 and DOG1 on immunohistochemistry and the atypical junction between Exon 4 of the ETV6 gene and Exon 14 of the NTRK3 gene.

Skalova A, Vanecek T, Sima R, Laco J, Weinreb I, Perez-Ordonez B, et al. Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion gene: a hitherto undescribed salivary gland tumor entity. Am J Surg Pathol. 2010;34(5):599–608. https://doi.org/10.1097/PAS.0b013e3181d9efcc.CrossRefPubMed

Khurram SA, Speight PM. Characterisation of DOG-1 expression in salivary gland tumours and comparison with myoepithelial markers. Head Neck Pathol. 2018. https://doi.org/10.1007/s12105-018-0917-3.CrossRefPubMedPubMedCentral

Naous R, Zhang S, Valente A, Stemmer M, Khurana KK. Utility of immunohistochemistry and ETV6 (12p13) gene rearrangement in identifying secretory carcinoma of salivary gland among previously diagnosed cases of acinic cell carcinoma. Pathol Res Int. 2017;2017:1497023. https://doi.org/10.1155/2017/1497023.CrossRef

Laco J, Svajdler M Jr, Andrejs J, Hrubala D, Hacova M, Vanecek T, et al. Mammary analog secretory carcinoma of salivary glands: a report of 2 cases with expression of basal/myoepithelial markers (calponin, CD10 and p63 protein). Pathol Res Pract. 2013;209(3):167–72. https://doi.org/10.1016/j.prp.2012.12.005.CrossRefPubMed

Desai MA, Mehrad M, Ely KA, Bishop JA, Netterville J, Aulino JM, et al. Secretory carcinoma of the thyroid gland: report of a highly aggressive case clinically mimicking undifferentiated carcinoma and review of the literature. Head Neck Pathol. 2018. https://doi.org/10.1007/s12105-018-0995-2.CrossRefPubMedPubMedCentral

Amin SM, Beattie A, Ling X, Jennings LJ, Guitart J. Primary cutaneous mammary analog secretory carcinoma with ETV6-NTRK3 translocation. Am J Dermatopathol. 2016;38(11):842–5. https://doi.org/10.1097/dad.0000000000000590.CrossRefPubMed

Lurquin E, Jorissen M, Debiec-Rychter M, Hermans R, Hauben E. Mammary analogue secretory carcinoma of the sinus ethmoidalis. Histopathology. 2015;67(5):749–51. https://doi.org/10.1111/his.12702.CrossRefPubMed

Baneckova M, Agaimy A, Andreasen S, Vanecek T, Steiner P, Slouka D, et al. Mammary analog secretory carcinoma of the nasal cavity: characterization of 2 cases and their distinction from other low-grade sinonasal adenocarcinomas. Am J Surg Pathol. 2018;42(6):735–43. https://doi.org/10.1097/pas.0000000000001048.CrossRefPubMed

Bao Y, Li J, Zhu Y. Mammary analog secretory carcinoma with ETV6 rearrangement arising in the conjunctiva and eyelid. Am J Dermatopathol. 2018;40(7):531–5. https://doi.org/10.1097/dad.0000000000001062.CrossRefPubMed

10.

Huang T, McHugh JB, Berry GJ, Myers JL. Primary mammary analogue secretory carcinoma of the lung: a case report. Hum Pathol. 2018;74:109–13. https://doi.org/10.1016/j.humpath.2017.10.027.CrossRefPubMed

11.

Rooper LM, Karantanos T, Ning Y, Bishop JA, Gordon SW, Kang H. Salivary secretory carcinoma with a novel ETV6-MET fusion: expanding the molecular spectrum of a recently described entity. Am J Surg Pathol. 2018;42(8):1121–6. https://doi.org/10.1097/pas.0000000000001065.CrossRefPubMed

12.

Skalova A, Vanecek T, Martinek P, Weinreb I, Stevens TM, Simpson RHW, et al. Molecular profiling of mammary analog secretory carcinoma revealed a subset of tumors harboring a novel ETV6-RET translocation: report of 10 cases. Am J Surg Pathol. 2018;42(2):234–46. https://doi.org/10.1097/pas.0000000000000972.CrossRefPubMed

13.

Stevens TM, Kovalovsky AO, Velosa C, Shi Q, Dai Q, Owen RP, et al. Mammary analog secretory carcinoma, low-grade salivary duct carcinoma, and mimickers: a comparative study. Mod Pathol. 2015;28(8):1084–100. https://doi.org/10.1038/modpathol.2015.64.CrossRefPubMed

14.

Hwang MJ, Wu PR, Chen CM, Chen CY, Chen CJ. A rare malignancy of the parotid gland in a 13-year-old Taiwanese boy: case report of a mammary analogue secretory carcinoma of the salivary gland with molecular study. Med Mol Morphol. 2014;47(1):57–61. https://doi.org/10.1007/s00795-013-0051-y.CrossRefPubMed

15.

Ngouajio AL, Drejet SM, Phillips DR, Summerlin DJ, Dahl JP. A systematic review including an additional pediatric case report: pediatric cases of mammary analogue secretory carcinoma. Int J Pediatr Otorhinolaryngol. 2017;100:187–93. https://doi.org/10.1016/j.ijporl.2017.07.004.CrossRefPubMed

16.

Xu B, Aryeequaye R, Wang L, Katabi N. Sinonasal secretory carcinoma of salivary gland with high grade transformation: a case report of this under-recognized diagnostic entity with prognostic and therapeutic implications. Head Neck Pathol. 2018;12(2):274–8. https://doi.org/10.1007/s12105-017-0855-5.CrossRefPubMed

17.

Skalova A, Vanecek T, Simpson RH, Laco J, Majewska H, Baneckova M, et al. Mammary analogue secretory carcinoma of salivary glands: molecular analysis of 25 ETV6 gene rearranged tumors with lack of detection of classical ETV6-NTRK3 fusion transcript by standard RT-PCR: report of 4 cases harboring ETV6-X gene fusion. Am J Surg Pathol. 2016;40(1):3–13. https://doi.org/10.1097/pas.0000000000000537.CrossRefPubMed

18.

Ito Y, Ishibashi K, Masaki A, Fujii K, Fujiyoshi Y, Hattori H, et al. Mammary analogue secretory carcinoma of salivary glands: a clinicopathologic and molecular study including 2 cases harboring ETV6-X fusion. Am J Surg Pathol. 2015;39(5):602–10. https://doi.org/10.1097/pas.0000000000000392.CrossRefPubMed

19.

Kastnerova L, Luzar B, Goto K, Grishakov V, Gatalica Z, Kamarachev J, et al. Secretory carcinoma of the skin: report of 6 cases, including a case with a novel NFIX-PKN1 translocation. Am J Surg Pathol. 2019. https://doi.org/10.1097/pas.0000000000001261.CrossRefPubMed

20.

Guilmette J, Dias-Santagata D, Nose V, Lennerz JK, Sadow PM. Novel gene fusions in secretory carcinoma of the salivary glands: enlarging the ETV6 family. Hum Pathol. 2019;83:50–8. https://doi.org/10.1016/j.humpath.2018.08.011.CrossRefPubMed

21.

Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PHB. A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Nat Genet. 1998;18(2):184–7. https://doi.org/10.1038/ng0298-184.CrossRefPubMed

22.

Tognon C, Knezevich SR, Huntsman D, Roskelley CD, Melnyk N, Mathers JA, et al. Expression of the ETV6-NTRK3 gene fusion as a primary event in human secretory breast carcinoma. Cancer Cell. 2002;2(5):367–76.CrossRef

23.

Rubin BP, Chen CJ, Morgan TW, Xiao S, Grier HE, Kozakewich HP, et al. Congenital mesoblastic nephroma t(12;15) is associated with ETV6-NTRK3 gene fusion: cytogenetic and molecular relationship to congenital (infantile) fibrosarcoma. Am J Pathol. 1998;153(5):1451–8. https://doi.org/10.1016/s0002-9440(10)65732-x.CrossRefPubMedPubMedCentral

24.

Leeman-Neill RJ, Kelly LM, Liu P, Brenner AV, Little MP, Bogdanova TI, et al. ETV6-NTRK3 is a common chromosomal rearrangement in radiation-associated thyroid cancer. Cancer. 2014;120(6):799–807. https://doi.org/10.1002/cncr.28484.CrossRefPubMed

25.

Kralik JM, Kranewitter W, Boesmueller H, Marschon R, Tschurtschenthaler G, Rumpold H, et al. Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia. Diagn Pathol. 2011;6:19. https://doi.org/10.1186/1746-1596-6-19.CrossRefPubMedPubMedCentral

26.

Andreasen S, Skalova A, Agaimy A, Bishop JA, Laco J, Leivo I, et al. ETV6 gene rearrangements characterize a morphologically distinct subset of sinonasal low-grade non-intestinal-type adenocarcinoma: a novel translocation-associated carcinoma restricted to the sinonasal tract. Am J Surg Pathol. 2017;41(11):1552–60. https://doi.org/10.1097/pas.0000000000000912.CrossRefPubMed

27.

Andreasen S, Kiss K, Melchior LC, Laco J. The ETV6-RET gene fusion is found in ETV6-rearranged low-grade sinonasal adenocarcinoma without NTRK3 involvement. Am J Surg Pathol. 2018;42(7):985–8. https://doi.org/10.1097/pas.0000000000001069.CrossRefPubMed

28.

Parekh V, Stevens TM. Mammary analogue secretory carcinoma. Arch Pathol Lab Med. 2016;140(9):997–1001. https://doi.org/10.5858/arpa.2015-0075-RS.CrossRefPubMed

29.

Skalova A, Vanecek T, Majewska H, Laco J, Grossmann P, Simpson RH, et al. Mammary analogue secretory carcinoma of salivary glands with high-grade transformation: report of 3 cases with the ETV6-NTRK3 gene fusion and analysis of TP53, beta-catenin, EGFR, and CCND1 genes. Am J Surg Pathol. 2014;38(1):23–33. https://doi.org/10.1097/pas.0000000000000088.CrossRefPubMed

30.

Chiosea SI, Griffith C, Assaad A, Seethala RR. Clinicopathological characterization of mammary analogue secretory carcinoma of salivary glands. Histopathology. 2012;61(3):387–94. https://doi.org/10.1111/j.1365-2559.2012.04232.x.CrossRefPubMed

Title: (Mammary Analogue) Secretory Carcinoma of the Nasal Cavity: Report of a Rare Case with p63 and DOG1 Expression and Uncommon Exon 4–Exon 14 ETV6-NTRK3 Fusion Diagnosed with Next Generation Sequencing
Authors: Bingcheng Wu
Thomas Kwok Seng Loh
Tomas Vanecek
Michal Michal
Fredrik Petersson
Publication date: 01-06-2020
Publisher: Springer US
Published in: Head and Neck Pathology / Issue 2/2020
Electronic ISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-019-01051-z

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

(Mammary Analogue) Secretory Carcinoma of the Nasal Cavity: Report of a Rare Case with p63 and DOG1 Expression and Uncommon Exon 4–Exon 14 ETV6-NTRK3 Fusion Diagnosed with Next Generation Sequencing

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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