(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

. 2020 Jun ; 14 (2) : 542-549. [epub] 20190704

Jazyk angličtina Země Spojené státy americké Médium print-electronic

Typ dokumentu kazuistiky, časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/pmid31273600
Odkazy

PubMed 31273600
PubMed Central PMC7235099
DOI 10.1007/s12105-019-01051-z
PII: 10.1007/s12105-019-01051-z
Knihovny.cz E-zdroje

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.

Zobrazit více v PubMed

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. doi: 10.1097/PAS.0b013e3181d9efcc. PubMed DOI

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

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. doi: 10.1155/2017/1497023. PubMed DOI PMC

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):167–172. doi: 10.1016/j.prp.2012.12.005. PubMed DOI

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 doi: 10.1007/s12105-018-0995-2. PubMed DOI PMC

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):842–845. doi: 10.1097/dad.0000000000000590. PubMed DOI

Lurquin E, Jorissen M, Debiec-Rychter M, Hermans R, Hauben E. Mammary analogue secretory carcinoma of the sinus ethmoidalis. Histopathology. 2015;67(5):749–751. doi: 10.1111/his.12702. PubMed DOI

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):735–743. doi: 10.1097/pas.0000000000001048. PubMed DOI

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):531–535. doi: 10.1097/dad.0000000000001062. PubMed DOI

Huang T, McHugh JB, Berry GJ, Myers JL. Primary mammary analogue secretory carcinoma of the lung: a case report. Hum Pathol. 2018;74:109–113. doi: 10.1016/j.humpath.2017.10.027. PubMed DOI

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):1121–1126. doi: 10.1097/pas.0000000000001065. PubMed DOI

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):234–246. doi: 10.1097/pas.0000000000000972. PubMed DOI

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):1084–1100. doi: 10.1038/modpathol.2015.64. PubMed DOI

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. doi: 10.1007/s00795-013-0051-y. PubMed DOI

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;100:187–193. doi: 10.1016/j.ijporl.2017.07.004. PubMed DOI

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):274–278. doi: 10.1007/s12105-017-0855-5. PubMed DOI PMC

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. doi: 10.1097/pas.0000000000000537. PubMed DOI

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):602–610. doi: 10.1097/pas.0000000000000392. PubMed DOI

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 doi: 10.1097/pas.0000000000001261. PubMed DOI

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;83:50–58. doi: 10.1016/j.humpath.2018.08.011. PubMed DOI

Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PHB. A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Nat Genet. 1998;18(2):184–187. doi: 10.1038/ng0298-184. PubMed DOI

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):367–376. doi: 10.1016/S1535-6108(02)00180-0. PubMed DOI

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):1451–1458. doi: 10.1016/s0002-9440(10)65732-x. PubMed DOI PMC

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. doi: 10.1002/cncr.28484. PubMed DOI PMC

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. doi: 10.1186/1746-1596-6-19. PubMed DOI PMC

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):1552–1560. doi: 10.1097/pas.0000000000000912. PubMed DOI

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):985–988. doi: 10.1097/pas.0000000000001069. PubMed DOI

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

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. doi: 10.1097/pas.0000000000000088. PubMed DOI

Chiosea SI, Griffith C, Assaad A, Seethala RR. Clinicopathological characterization of mammary analogue secretory carcinoma of salivary glands. Histopathology. 2012;61(3):387–394. doi: 10.1111/j.1365-2559.2012.04232.x. PubMed DOI

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...