Secretory carcinoma

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Secretory carcinoma was once used exclusively as a term for rare, slowly growing breast tumors without reference to their location in the breast. It is now termed mammary secretory carcinoma because secretory carcinoma has sometimes been used to name tumors which develop in non-breast tissues but have the microscopic appearance of, and a critical gene abnormality found in, mammary secretory carcinoma. This genetic abnormality is a balanced genetic translocation that forms a ETV6-NTRK3 fusion gene which appears involved in promoting the development and/or progression of all these tumors.[1][2] The formerly termed secretory carcinomas include:

Mammary secretory carcinoma

Mammary secretory carcinoma, also termed secretory carcinoma of the breast, is a slow growing breast cancer that develops in female adults and, in a significant percentage of cases, males and children.[3] While rare, it is the most common type of breast cancer that develops in children.[4] (Mammary secretory carcinoma, termed secretory carcinoma at the time, was first described in 1966.[5])

Mammary analogue secretory carcinoma

Mammary analogue secretory carcinoma, also termed MASCSG, is a slow growing salivary gland neoplasm (the SG in MASCSG stands for salivary gland) that develops in adults and, in a significant number of cases, children. MASCSG tumors are located most often in a parotid salivary gland or infrequently a buccal mucosa salivary gland, submandibular salivary gland, or small salivary gland in the lower lip, upper lip, or hard palate.[6][7] (MASCSG was first described in 2010.[8])

Secretory carcinoma of the skin

As of 2021, 26 cases of secretory carcinoma of the skin had been reported.[9][10] In a review of 25 cases, the skin tumors occurred in 16 females and 9 males aged 13 to 98 years (mean: 51.8 years). These tumors most common locations were the axilla (10 cases), neck (3), and lip (3 cases) with single cases occurring in other skin sites such as a cheek, eyelid, thigh, or skin at the base of a breast nipple. The tumors were treated primarily by surgical removal plus in some cases nearby lymph node radiotherapy. Although these patients need to be followed for longer periods, at the times of their last follow-up reports, all of these patients' tumors had taken indolent courses without recurring or metastasizing to distant tissues.[11][9][10] However, in a recent report not included in the series of 25 cases, a 31-year-old female was diagnosed with an axillary secretory carcinoma of the skin and treated with surgical removal of the tumor and radiotherapy to nearby lymph nodes; 4 years later, the patient developed metastasizes in both lungs.[10] Most of these tumors consisted of cells that expressed the NTRK3-ETV6 fusion gene. (Secretory carcinoma in the skin was first described in 2009.[10])

Salivary gland–type carcinoma of the thyroid

Salivary gland–type carcinoma of the thyroid, also termed intrathyroidal mammary analog secretory carcinoma, has been reported in 12 cases in the English language.[12] In a review of 11 cases, salivary gland–type carcinomas of the thyroid were diagnosed in adult females (9 cases) and males (2 cases) with an average age 61.5 years (range: 36–74 years). These individuals presented with a thyroid mass with two individuals complaining of shortness of breath and one individual complaining of hoarseness. Their tumors' microscopic histopathology resembled that described in the pathology section of mammary secretory carcinoma and consisted of tumor cells that expressed the NTRK3-ETV6 fusion gene. All cases were treated by thyroidectomy (removal of the thyroid gland) plus radiotherapy in 6 cases and/or chemotherapy in  3 cases. Six of 10 individuals experienced local recurrences (n = 3) or one or more metastases (n = 3) after initial treatment; their tumors had invaded nearby normal thyroid tissues, trachea, mediastinum, and/or and cartilage and metastasized to the liver, lung, kidney, bone, and/or soft tissues. Salivary gland-type carcinoma of the thyroid appears to be a more aggressive disease than mammary secretory carcinoma or MASCSG.[2] (Salivary gland-type carcinoma of the thyroid was first described in 2015.[13])

Secretory carcinomas located in other sites

Tumors with the microscopic histopathology of secretory carcinomas and consisting of cells that express the NTRK3-ETV6 fusion gene have been reported to occur in the nasal cavity of a 51 year old (tumor size: 1.5×1.5×0.4 cm) and 62 (tumor size: 4×4×1.5) year old woman,[14] an ethmoid sinus of a 67-year-old female,[15] lung of a 62-year-old female (8.5 cm in largest dimension),[16] and vulva of a 51-year-old female.[17]

References

  1. ^ Loo SK, Yates ME, Yang S, Oesterreich S, Lee AV, Wang XS (May 2022). "Fusion-associated carcinomas of the breast: Diagnostic, prognostic, and therapeutic significance". Genes, Chromosomes & Cancer. 61 (5): 261–273. doi:10.1002/gcc.23029. PMC 8930468. PMID 35106856.
  2. ^ a b Chambers M, Nosé V, Sadow PM, Tafe LJ, Kerr DA (March 2021). "Salivary-Like Tumors of the Thyroid: A Comprehensive Review of Three Rare Carcinomas". Head and Neck Pathology. 15 (1): 212–224. doi:10.1007/s12105-020-01193-5. PMC 8010008. PMID 32562215.
  3. ^ Gong P, Xia C, Yang Y, Lei W, Yang W, Yu J, Ji Y, Ren L, Ye F (July 2021). "Clinicopathologic profiling and oncologic outcomes of secretory carcinoma of the breast". Scientific Reports. 11 (1): 14738. Bibcode:2021NatSR..1114738G. doi:10.1038/s41598-021-94351-w. PMC 8289843. PMID 34282256.
  4. ^ Carretero-Barrio I, Santón A, Caniego Casas T, López Miranda E, Reguero-Callejas ME, Pérez-Mies B, Benito A, Palacios J (February 2022). "Cytological and molecular characterization of secretory breast carcinoma". Diagnostic Cytopathology. 50 (7): E174–E180. doi:10.1002/dc.24945. PMC 9303577. PMID 35156343. S2CID 246813006.
  5. ^ McDivitt RW, Stewart FW (January 1966). "Breast carcinoma in children". JAMA. 195 (5): 388–90. doi:10.1001/jama.1966.03100050096033. PMID 4285563.
  6. ^ Knaus ME, Grabowksi JE (August 2021). "Pediatric Breast Masses: An Overview of the Subtypes, Workup, Imaging, and Management". Advances in Pediatrics. 68: 195–209. doi:10.1016/j.yapd.2021.05.006. PMID 34243852. S2CID 235786044.
  7. ^ Khalele BA (2017). "Systematic review of mammary analog secretory carcinoma of salivary glands at 7 years after description". Head & Neck. 39 (6): 1243–1248. doi:10.1002/hed.24755. PMID 28370824. S2CID 3073024.
  8. ^ Skálová A, Vanecek T, Sima R, Laco J, Weinreb I, Perez-Ordonez B, Starek I, Geierova M, Simpson RH, Passador-Santos F, Ryska A, Leivo I, Kinkor Z, Michal M (2010). "Mammary analogue secretory carcinoma of salivary glands, containing the ETV6-NTRK3 fusion gene: a hitherto undescribed salivary gland tumor entity". The American Journal of Surgical Pathology. 34 (5): 599–608. doi:10.1097/PAS.0b013e3181d9efcc. PMID 20410810. S2CID 19924608.
  9. ^ a b Kastnerova L, Luzar B, Goto K, Grishakov V, Gatalica Z, Kamarachev J, Martinek P, Hájková V, Grossmann P, Imai H, Fukui H, Michal M, Kazakov DV (August 2019). "Secretory Carcinoma of the Skin: Report of 6 Cases, Including a Case With a Novel NFIX-PKN1 Translocation" (PDF). The American Journal of Surgical Pathology. 43 (8): 1092–1098. doi:10.1097/PAS.0000000000001261. PMID 31045890. S2CID 143425300.
  10. ^ a b c d Taniguchi K, Yanai H, Kaji T, Kubo T, Ennishi D, Hirasawa A, Yoshino T (August 2021). "Secretory carcinoma of the skin with lymph node metastases and recurrence in both lungs: A case report". Journal of Cutaneous Pathology. 48 (8): 1069–1074. doi:10.1111/cup.14028. PMID 33882152. S2CID 233352244.
  11. ^ Bishop JA, Taube JM, Su A, Binder SW, Kazakov DV, Michal M, Westra WH (January 2017). "Secretory Carcinoma of the Skin Harboring ETV6 Gene Fusions: A Cutaneous Analogue to Secretory Carcinomas of the Breast and Salivary Glands". The American Journal of Surgical Pathology. 41 (1): 62–66. doi:10.1097/PAS.0000000000000734. PMID 27631515. S2CID 23882212.
  12. ^ Baloch ZW, Asa SL, Barletta JA, Ghossein RA, Juhlin CC, Jung CK, LiVolsi VA, Papotti MG, Sobrinho-Simões M, Tallini G, Mete O (March 2022). "Overview of the 2022 WHO Classification of Thyroid Neoplasms". Endocrine Pathology. 33 (1): 27–63. doi:10.1007/s12022-022-09707-3. PMID 35288841. S2CID 247440666.
  13. ^ Desai MA, Mehrad M, Ely KA, Bishop JA, Netterville J, Aulino JM, Lewis JS (December 2019). "Secretory Carcinoma of the Thyroid Gland: Report of a Highly Aggressive Case Clinically Mimicking Undifferentiated Carcinoma and Review of the Literature". Head and Neck Pathology. 13 (4): 562–572. doi:10.1007/s12105-018-0995-2. PMC 6854196. PMID 30564997.
  14. ^ Baneckova M, Agaimy A, Andreasen S, Vanecek T, Steiner P, Slouka D, Svoboda T, Miesbauerova M, Michal M, Skálová A (June 2018). "Mammary Analog Secretory Carcinoma of the Nasal Cavity: Characterization of 2 Cases and Their Distinction From Other Low-grade Sinonasal Adenocarcinomas". The American Journal of Surgical Pathology. 42 (6): 735–743. doi:10.1097/PAS.0000000000001048. PMID 29543674. S2CID 3911820.
  15. ^ Lurquin E, Jorissen M, Debiec-Rychter M, Hermans R, Hauben E (November 2015). "Mammary analogue secretory carcinoma of the sinus ethmoidalis". Histopathology. 67 (5): 749–51. doi:10.1111/his.12702. PMID 25828788. S2CID 1487884.
  16. ^ Huang T, McHugh JB, Berry GJ, Myers JL (April 2018). "Primary mammary analogue secretory carcinoma of the lung: a case report". Human Pathology. 74: 109–113. doi:10.1016/j.humpath.2017.10.027. PMID 29104113.
  17. ^ Nguyen JK, Bridge JA, Joshi C, McKenney JK (May 2019). "Primary Mammary Analog Secretory Carcinoma (MASC) of the Vulva With ETV6-NTRK3 Fusion: A Case Report". International Journal of Gynecological Pathology. 38 (3): 283–287. doi:10.1097/PGP.0000000000000501. PMID 29672325. S2CID 5031074.