Sinonasal Secretory Carcinoma of Salivary Gland with High Grade Transformation: A Case Report of this Under-Recognized Diagnostic Entity with Prognostic and Therapeutic Implications

Case Report

Abstract

Secretory carcinoma (SC) is a recently described salivary gland carcinoma with characteristic ETV6-NTRK3 fusion. In this case report, we described a SC of the maxillary sinus that underwent high grade transformation in a 61-year-old patient. The diagnosis was confirmed by the presence of ETV6 translocation. Within the sinonasal tract, SC is an important differential diagnosis especially of sinonasal adenocarcinoma, non-intestinal type (non-ITAC), as these two entities bears histologic and immunophenotypic similarity. Distinction between these two tumors can be challenging based on the morphology alone and may require additional immunohistochemical and molecular studies. It is important to recognize that SC can occur in the sinonasal tract as correctly diagnosing SC may be prognostic relevant and may provide new targeted therapeutic avenues for these patients.

Keywords

Secretory carcinoma Sinonasal non-intestinal type adenocarcinoma High grade transformation ETV6-NTRK3 fusion 

Notes

Funding

This study was funded in part by the Cancer Center Support Grant of the National Institutes of Health/National Cancer Institute under award number P30CA008748. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

Compliance with Ethical Standards

Conflict of interest

All authors declare that he/she has no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

References

  1. 1.
    El-Naggar AK, Chan JKC, Grandis JR, Takata T, Slootweg PJ. World Health Organization classification of tumours: pathology and genetics of head and neck tumours. 4th ed. Lyon: IARC Press; 2017.Google Scholar
  2. 2.
    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.PubMedGoogle Scholar
  3. 3.
    Antonescu CR, Katabi N, Zhang L, Sung YS, Seethala RR, Jordan RC, et al. EWSR1-ATF1 fusion is a novel and consistent finding in hyalinizing clear-cell carcinoma of salivary gland. Genes Chromosomes Cancer. 2011;50(7):559–70. doi: 10.1002/gcc.20881.CrossRefPubMedGoogle Scholar
  4. 4.
    Weinreb I, Piscuoglio S, Martelotto LG, Waggott D, Ng CK, Perez-Ordonez B, et al. Hotspot activating PRKD1 somatic mutations in polymorphous low-grade adenocarcinomas of the salivary glands. Nat Genet. 2014;46(11):1166–9. doi: 10.1038/ng.3096.CrossRefPubMedGoogle Scholar
  5. 5.
    Bhayani MK, Yilmaz T, Sweeney A, Calzada G, Roberts DB, Levine NB, et al. Sinonasal adenocarcinoma: a 16-year experience at a single institution. Head Neck. 2014;36(10):1490–6. doi: 10.1002/hed.23485.PubMedGoogle Scholar
  6. 6.
    Szablewski V, Solassol J, Poizat F, Larrieux M, Crampette L, Mange A, et al. EGFR expression and KRAS and BRAF mutational status in intestinal-type sinonasal adenocarcinoma. Int J Mol Sci. 2013;14(3):5170–81. doi: 10.3390/ijms14035170.CrossRefPubMedPubMedCentralGoogle Scholar
  7. 7.
    Garcia-Inclan C, Lopez F, Perez-Escuredo J, Cuesta-Albalad MP, Vivanco B, Centeno I, et al. EGFR status and KRAS/BRAF mutations in intestinal-type sinonasal adenocarcinomas. Cell Oncol. 2012;35(6):443–50. doi: 10.1007/s13402-012-0103-7.CrossRefGoogle Scholar
  8. 8.
    Bhaijee F, Carron J, Bell D. Low-grade nonintestinal sinonasal adenocarcinoma: a diagnosis of exclusion. Ann Diagn Pathol. 2011;15(3):181–4. doi: 10.1016/j.anndiagpath.2010.10.002.CrossRefPubMedGoogle Scholar
  9. 9.
    Leivo I. Sinonasal adenocarcinoma: update on classification, immunophenotype and molecular features. Head Neck Pathol. 2016;10(1):68–74. doi: 10.1007/s12105-016-0694-9.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Majewska H, Skalova A, Stodulski D, Klimkova A, Steiner P, Stankiewicz C, et al. Mammary analogue secretory carcinoma of salivary glands: a new entity associated with ETV6 gene rearrangement. Virchows Arch. 2015;466(3):245–54. doi: 10.1007/s00428-014-1701-8.CrossRefPubMedGoogle Scholar
  11. 11.
    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.CrossRefPubMedGoogle Scholar
  12. 12.
    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. doi: 10.1111/his.12702.CrossRefPubMedGoogle Scholar
  13. 13.
    Skalova A. Mammary analogue secretory carcinoma of salivary gland origin: an update and expanded morphologic and immunohistochemical spectrum of recently described entity. Head Neck Pathol. 2013;7(Suppl 1):S30-6. doi: 10.1007/s12105-013-0455-y.PubMedGoogle Scholar
  14. 14.
    Connor A, Perez-Ordonez B, Shago M, Skalova A, Weinreb I. Mammary analog secretory carcinoma of salivary gland origin with the ETV6 gene rearrangement by FISH: expanded morphologic and immunohistochemical spectrum of a recently described entity. Am J Surg Pathol. 2012;36(1):27–34. doi: 10.1097/PAS.0b013e318231542a.CrossRefPubMedGoogle Scholar
  15. 15.
    Pinto A, Nose V, Rojas C, Fan YS, Gomez-Fernandez C. Searching for mammary analogue [corrected] secretory carcinoma of salivary gland among its mimics. Mod Pathol. 2014;27(1):30–7. doi: 10.1038/modpathol.2013.84.CrossRefPubMedGoogle Scholar
  16. 16.
    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. doi: 10.1038/modpathol.2015.64.CrossRefPubMedGoogle Scholar
  17. 17.
    Projetti F, Lacroix-Triki M, Serrano E, Vergez S, Barres BH, Meilleroux J, et al. A comparative immunohistochemistry study of diagnostic tools in salivary gland tumors: usefulness of mammaglobin, gross cystic disease fluid protein 15, and p63 cytoplasmic staining for the diagnosis of mammary analog secretory carcinoma? J Oral Pathol Med. 2015;44(4):244–51. doi: 10.1111/jop.12226.CrossRefPubMedGoogle Scholar
  18. 18.
    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. doi: 10.1097/PAS.0000000000000912.Google Scholar
  19. 19.
    Sethi R, Kozin E, Remenschneider A, Meier J, VanderLaan P, Faquin W, et al. Mammary analogue secretory carcinoma: update on a new diagnosis of salivary gland malignancy. Laryngoscope. 2014;124(1):188–95. doi: 10.1002/lary.24254.CrossRefPubMedGoogle Scholar
  20. 20.
    Luo W, Lindley SW, Lindley PH, Krempl GA, Seethala RR, Fung KM. Mammary analog secretory carcinoma of salivary gland with high-grade histology arising in hard palate, report of a case and review of literature. Int J Clin Exp Pathol. 2014;7(12):9008–22.PubMedPubMedCentralGoogle Scholar
  21. 21.
    Nagasubramanian R, Wei J, Gordon P, Rastatter JC, Cox MC, Pappo A. Infantile fibrosarcoma with NTRK3-ETV6 fusion successfully treated with the tropomyosin-related kinase inhibitor LOXO-101. Pediatr Blood Cancer. 2016;63(8):1468–70. doi: 10.1002/pbc.26026.CrossRefPubMedPubMedCentralGoogle Scholar
  22. 22.
    Drilon A, Li G, Dogan S, Gounder M, Shen R, Arcila M, et al. What hides behind the MASC: clinical response and acquired resistance to entrectinib after ETV6-NTRK3 identification in a mammary analogue secretory carcinoma (MASC). Ann Oncol. 2016;27(5):920–6. doi: 10.1093/annonc/mdw042.CrossRefPubMedPubMedCentralGoogle Scholar
  23. 23.
    Ardini E, Menichincheri M, Banfi P, Bosotti R, De Ponti C, Pulci R, et al. Entrectinib, a Pan-TRK, ROS1, and ALK inhibitor with activity in multiple molecularly defined cancer indications. Mol Cancer Ther. 2016;15(4):628–39. doi: 10.1158/1535-7163.MCT-15-0758.CrossRefPubMedGoogle Scholar
  24. 24.
    Rolfo C, Ruiz R, Giovannetti E, Gil-Bazo I, Russo A, Passiglia F, et al. Entrectinib: a potent new TRK, ROS1, and ALK inhibitor. Expert Opin Investig Drugs. 2015;24(11):1493–500. doi: 10.1517/13543784.2015.1096344.CrossRefPubMedGoogle Scholar
  25. 25.
    Doebele RC, Davis LE, Vaishnavi A, Le AT, Estrada-Bernal A, Keysar S, et al. An oncogenic NTRK fusion in a patient with soft-tissue sarcoma with response to the tropomyosin-related kinase inhibitor LOXO-101. Cancer Discov. 2015;5(10):1049–57. doi: 10.1158/2159-8290.CD-15-0443.CrossRefPubMedPubMedCentralGoogle Scholar
  26. 26.
    Nagao T. “Dedifferentiation” and high-grade transformation in salivary gland carcinomas. Head Neck Pathol. 2013;7(Suppl 1):S37-47. doi: 10.1007/s12105-013-0458-8.PubMedGoogle Scholar
  27. 27.
    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.CrossRefPubMedGoogle Scholar
  28. 28.
    Jung MJ, Song JS, Kim SY, Nam SY, Roh JL, Choi SH, et al. Finding and characterizing mammary analogue secretory carcinoma of the salivary gland. Korean J Pathol. 2013;47(1):36–43. doi: 10.4132/KoreanJPathol.2013.47.1.36.CrossRefPubMedPubMedCentralGoogle Scholar
  29. 29.
    Cipriani NA, Blair EA, Finkle J, Kraninger JL, Straus CM, Villaflor VM, et al. Salivary gland secretory carcinoma with high-grade transformation, CDKN2A/B loss, distant metastasis, and lack of sustained response to crizotinib. Int J Surg Pathol. 2017. doi: 10.1177/1066896917709350.

Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  1. 1.Department of PathologyMemorial Sloan Kettering Cancer CenterNew YorkUSA

Personalised recommendations