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:

Contents

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]

Related Research Articles

Adenocarcinoma Medical condition

Adenocarcinoma (AC) is a type of cancerous tumor that can occur in several parts of the body. It is defined as neoplasia of epithelial tissue that has glandular origin, glandular characteristics, or both. Adenocarcinomas are part of the larger grouping of carcinomas, but are also sometimes called by more precise terms omitting the word, where these exist. Thus invasive ductal carcinoma, the most common form of breast cancer, is adenocarcinoma but does not use the term in its name—however, esophageal adenocarcinoma does to distinguish it from the other common type of esophageal cancer, esophageal squamous cell carcinoma. Several of the most common forms of cancer are adenocarcinomas, and the various sorts of adenocarcinoma vary greatly in all their aspects, so that few useful generalizations can be made about them.

Adenoid cystic carcinoma Medical condition

Adenoid cystic carcinoma is a rare type of cancer that can exist in many different body sites. This tumor most often occurs in the salivary glands, but it can also be found in many anatomic sites, including the breast, lacrimal gland, lung, brain, bartholin gland, trachea, and the paranasal sinuses.

Fibrosarcoma Medical condition

Fibrosarcoma is a malignant mesenchymal tumour derived from fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. Fibrosarcomas mainly arise in people between the ages of 25–79 It originates in fibrous tissues of the bone and invades long or flat bones such as the femur, tibia, and mandible. It also involves the periosteum and overlying muscle.

Mammary tumor

A mammary tumor is a neoplasm originating in the mammary gland. It is a common finding in older female dogs and cats that are not spayed, but they are found in other animals as well. The mammary glands in dogs and cats are associated with their nipples and extend from the underside of the chest to the groin on both sides of the midline. There are many differences between mammary tumors in animals and breast cancer in humans, including tumor type, malignancy, and treatment options. The prevalence in dogs is about three times that of women. In dogs, mammary tumors are the second most common tumor over all and the most common tumor in female dogs with a reported incidence of 3.4%. Multiple studies have documented that spaying female dogs when young greatly decreases their risk of developing mammary neoplasia when aged. Compared with female dogs left intact, those spayed before puberty have 0.5% of the risk, those spayed after one estrous cycle have 8.0% of the risk, and dogs spayed after two estrous cycles have 26.0% of the risk of developing mammary neoplasia later in life. Overall, unspayed female dogs have a seven times greater risk of developing mammary neoplasia than do those that are spayed. While the benefit of spaying decreases with each estrous cycle, some benefit has been demonstrated in female dogs even up to 9 years of age. There is a much lower risk in male dogs and a risk in cats about half that of dogs.

Mucoepidermoid carcinoma Medical condition

Mucoepidermoid carcinoma (MEC) is the most common type of minor salivary gland malignancy in adults. Mucoepidermoid carcinoma can also be found in other organs, such as bronchi, lacrimal sac, and thyroid gland.

Papillary thyroid cancer Medical condition

Papillary thyroid cancer or papillary thyroid carcinoma is the most common type of thyroid cancer, representing 75 percent to 85 percent of all thyroid cancer cases. It occurs more frequently in women and presents in the 20–55 year age group. It is also the predominant cancer type in children with thyroid cancer, and in patients with thyroid cancer who have had previous radiation to the head and neck. It is often well-differentiated, slow-growing, and localized, although it can metastasize.

Myoepithelial cells are cells usually found in glandular epithelium as a thin layer above the basement membrane but generally beneath the luminal cells. These may be positive for alpha smooth muscle actin and can contract and expel the secretions of exocrine glands. They are found in the sweat glands, mammary glands, lacrimal glands, and salivary glands. Myoepithelial cells in these cases constitute the basal cell layer of an epithelium that harbors the epithelial progenitor. In the case of wound healing, myoepithelial cells reactively proliferate. Presence of myoepithelial cells in a hyperplastic tissue proves the benignity of the gland and, when absent, indicates cancer. Only rare cancers like adenoid cystic carcinomas contains myoepithelial cells as one of the malignant component.

Acinic cell carcinoma Medical condition

Acinic cell carcinoma is a malignant tumor representing 2% of all salivary tumors. 90% of the time found in the parotid gland, 10% intraorally on buccal mucosa or palate. The disease presents as a slow growing mass, associated with pain or tenderness in 50% of the cases. Often appears pseudoencapsulated.

ETV6 Protein-coding gene in the species Homo sapiens

ETV6 protein is a transcription factor that in humans is encoded by the ETV6 gene. The ETV6 protein regulates the development and growth of diverse cell types, particularly those of hematological tissues. However, its gene, ETV6 frequently suffers various mutations that lead to an array of potentially lethal cancers, i.e., ETV6 is a clinically significant proto-oncogene in that it can fuse with other genes to drive the development and/or progression of certain cancers. However, ETV6 is also an anti-oncogene or tumor suppressor gene in that mutations in it that encode for a truncated and therefore inactive protein are also associated with certain types of cancers.

Congenital mesoblastic nephroma, while rare, is the most common kidney neoplasm diagnosed in the first three months of life and accounts for 3-5% of all childhood renal neoplasms. This neoplasm is generally non-aggressive and amenable to surgical removal. However, a readily identifiable subset of these kidney tumors has a more malignant potential and is capable of causing life-threatening metastases. Congenital mesoblastic nephroma was first named as such in 1967 but was recognized decades before this as fetal renal hamartoma or leiomyomatous renal hamartoma.

Salivary gland tumour Medical condition

Salivary gland tumours, also known as mucous gland adenomas or neoplasms, are tumours that form in the tissues of salivary glands. The salivary glands are classified as major or minor. The major salivary glands consist of the parotid, submandibular, and sublingual glands. The minor salivary glands consist of 800 to 1000 small mucus-secreting glands located throughout the lining of the oral cavity. Patients with these types of tumours may be asymptomatic.

Spiradenoma Medical condition

Spiradenomas (SA) are rare, benign cutaneous adnexal tumors that may progress to become their malignant counterparts, i.e. spiradenocarcinomas (SAC). Cutaneous adnexal tumors are a group of skin tumors consisting of tissues that have differentiated towards one of the four primary adnexal structures found in normal skin: hair follicles, sebaceous sweat glands, apocrine sweat glands, and eccrine sweat glands. SA and SAC tumors were regarded as eccrine gland tumors and termed eccrine spiradenomas and eccrine spiradenocarcinomas, respectively. However, more recent studies have found them to be hair follicle tumors and commonly term them spiradenomas and spiradenocarcinomas, respectively. Further confusing the situation, SA-like and SAC-like tumors are also 1) manifestations of the inherited disorder, CYLD cutaneous syndrome (CCS), and 2) have repeatedly been confused with an entirely different tumor, adenoid cystic carcinomas of the salivary gland. Here, SA and SAC are strictly defined as sporadic hair follicle tumors that do not include the hereditary CCS spiradenomas and heridtary spiradenocarcinoms of CCS or the adenoid cystic carcinomas.

ETV6-NTRK3 gene fusion is the translocation of genetic material between the ETV6 gene located on the short arm of chromosome 12 at position p13.2 and the NTRK3 gene located on the long arm of chromosome 15 at position q25.3 to create the (12;15)(p13;q25) fusion gene, ETV6-NTRK3. This new gene consists of the 5' end of ETV6 fused to the 3' end of NTRK3. ETV6-NTRK3 therefore codes for a chimeric oncoprotein consisting of the helix-loop-helix (HLH) protein dimerization domain of the ETV6 protein fused to the tyrosine kinase domain of the NTRK3 protein. The ETV6 gene codes for the transcription factor protein, ETV6, which suppresses the expression of, and thereby regulates, various genes that in mice are required for normal hematopoiesis as well as the development and maintenance of the vascular network. NTRK3 codes for Tropomyosin receptor kinase C a NT-3 growth factor receptor cell surface protein that when bound to its growth factor ligand, neurotrophin-3, becomes an active tyrosine kinase that phosphorylates tyrosine residues on, and thereby stimulates, signaling proteins that promote the growth, survival, and proliferation of their parent cells. The tyrosine kinase of the ETV6-NTRK3 fusion protein is dysfunctional in that it is continuously active in phosphorylating tyrosine residues on, and thereby continuously stimulating, proteins that promote the growth, survival, and proliferation of their parent cells. In consequence, these cells take on malignant characteristics and are on the pathway of becoming cancerous. Indeed, the ETV6-NTRK3 fusion gene appears to be a critical driver of several types of cancers. It was originally identified in congenital fibrosarcoma and subsequently found in mammary secretory carcinoma, mammary analogue secretory carcinoma of salivary glands, salivary gland–type carcinoma of the thyroid, secretory carcinoma of the skin, congenital fibrosarcoma, congenital mesoblastic nephroma, rare cases of acute myelogenous leukemia, ALK-negative Inflammatory myofibroblastic tumour, cholangiocarcinoma, and radiation-induced papillary thyroid carcinoma.

Large cell lung carcinoma with rhabdoid phenotype (LCLC-RP) is a rare histological form of lung cancer, currently classified as a variant of large cell lung carcinoma (LCLC). In order for a LCLC to be subclassified as the rhabdoid phenotype variant, at least 10% of the malignant tumor cells must contain distinctive structures composed of tangled intermediate filaments that displace the cell nucleus outward toward the cell membrane. The whorled eosinophilic inclusions in LCLC-RP cells give it a microscopic resemblance to malignant cells found in rhabdomyosarcoma (RMS), a rare neoplasm arising from transformed skeletal muscle. Despite their microscopic similarities, LCLC-RP is not associated with rhabdomyosarcoma.

Epithelial-myoepithelial carcinoma of the lung is a very rare histologic form of malignant epithelial neoplasm ("carcinoma") arising from lung tissue.

Epithelial-myoepithelial carcinoma Medical condition

Epithelial-myoepithelial carcinoma (EMCa) is a rare malignant tumour that typically arises in a salivary gland and consists of both an epithelial and myoepithelial component. They are predominantly found in the parotid gland and represent approximately 1% of salivary gland tumours.

Mammary analogue secretory carcinoma (MASC), also termed MASCSG, is a salivary gland neoplasm. It is a secretory carcinoma which shares the microscopic pathologic features with other types of secretory carcinomas including mammary secretory carcinoma, secretory carcinoma of the skin, and ​salivary gland–type carcinoma of the thyroid. MASCSG was first described by Skálová et al. in 2010. The authors of this report found a chromosome translocation in certain salivary gland tumors, i.e. a (12;15)(p13;q25) fusion gene mutation. The other secretory carcinoma types carry this fusion gene.

Papillomatosis of the breast (PB) is a rare, benign, epitheliosis-like lesion, i.e. an overgrowth of the cells lining the ducts of glands that resembles a papilla or nipple-like nodule/tumor. PB tumors develop in the apocrine glands of the breast. PB is also termed juvenile papillomatosis because of its frequent occurrence in younger women (including, in uncommon cases, children and adolescent females} and Swiss cheese disease because of its microscopic appearance. Rarely, PB has also been diagnosed in very young, adolescent, and adult males.

Mammary secretory carcinoma (MSC), also termed secretory carcinoma of the breast, is a rare form of the breast cancers. MSC usually affects women but in a significant percentage of cases also occurs in men and children. Indeed, McDvitt and Stewart first described MSC in 1966 and termed it juvenile breast carcinoma because an increased number of cases were at that time diagnosed in juvenile females. MSC is the most common form of breast cancer in children, representing 80% of childhood breast cancers, although it accounts for less than 0.15% of all breast cancers.

CYLD cutaneous syndrome (CCS) is the recently designated term for three rare inherited cutaneous adnexal tumor syndromes: multiple familial trichoepithelioma (MFT1), Brooke–Spiegler syndrome (BSS), and familial cylindromatosis (FC). Cutaneous adnexal tumors are a large group of skin tumors that consist of tissues that have differentiated towards one of the four primary adnexal structures found in normal skin: hair follicles, sebaceous sweat glands, apocrine sweat glands, and eccrine sweat glands. CCS tumors are hair follicle tumors.

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. 1 2 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. 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. doi:10.1002/dc.24945. PMID   35156343.
  5. ↑ McDivitt RW, Stewart FW (January 1966). "Breast carcinoma in children". Jama. 195 (5): 388–90. 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.
  7. ↑ Khalele BA (2017). "Systematic review of mammary analog secretory carcinoma of salivary glands at 7 years after description". Head & Neck. doi:10.1002/hed.24755. PMID   28370824.
  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.
  9. 1 2 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". The American Journal of Surgical Pathology. 43 (8): 1092–1098. doi:10.1097/PAS.0000000000001261. PMID   31045890.
  10. 1 2 3 4 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.
  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.
  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.
  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.
  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.
  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 : Official Journal of the International Society of Gynecological Pathologists. 38 (3): 283–287. doi:10.1097/PGP.0000000000000501. PMID   29672325.
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