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1.
J Surg Case Rep ; 2024(6): rjae351, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38863959

ABSTRACT

Secretory carcinoma, a triple-negative benign tumor, is one of the rarest malignancies of the breast which rarely metastasizes. Surgical excision via lumpectomy or mastectomy is the mainstay of treatment, but in young patients, mastopexy can be a better option cosmetically. A 26-year-old woman presented with a lump in her right breast that, on ultrasonography, was revealed to be a multi lobulated solid lesion measuring 25 × 16 mm2 in the retro areolar region at a 4 o'clock position. It turned out to be secretory carcinoma of the breast in a tru-cut biopsy. Vertical Mastopexy was opted for the removal and simultaneous reconstruction of the breast, which was followed by adjuvant chemotherapy and radiotherapy. Vertical mastopexy showed that the tumor was removed, and the breast was restored to its original form simultaneously. This procedure gave better results clinically and cosmetically. The patient had an uneventful recovery and is on a regular follow-up.

2.
Diagn Cytopathol ; 2024 Jun 24.
Article in English | MEDLINE | ID: mdl-38923370

ABSTRACT

Mammary analogue secretory carcinoma (MASC) is a rare salivary gland tumor which shares its histologic, immunohistochemical, and genetic features with the secretory carcinoma (SC) of breast. In this case report, we describe a case of MASC in a young adolescent male with swelling in the right angle of mandible which is a relatively rare site to present along with its correlation of cytological, histological, and immunohistochemical features. A 16-year-old male came with the complaint of swelling in the right angle of mandible since 2 years. Contrast-enhanced computed tomography (CECT) neck revealed differential diagnosis of nerve sheath tumor, pleomorphic adenoma, and adenoid cystic neoplasm was kept, and subsequently fine-needle aspiration cytology (FNAC) was done. FNAC was done in which differential diagnosis of myoepithelial neoplasm, acinic cell carcinoma, and SC was given. Surgical excision was done followed by histopathological examination. Immunohistochemistry panel was also applied, and final diagnosis of SC was rendered. SC has distinct cytological, histological, and immunohistochemical features which should be recognized by the pathologists for the appropriate management of the patient.

3.
Cureus ; 16(5): e60355, 2024 May.
Article in English | MEDLINE | ID: mdl-38883019

ABSTRACT

Secretory carcinoma of the salivary gland (SCSG) is a rare head and neck tumor in adults and exceptional at the pediatric age. Its varied histological subtypes and distinct clinical presentation pose diagnostic and therapeutic challenges. Therefore, standardized guidelines are of utmost importance for the care of these patients, especially in children. Here we present an 11-year-old male presented with a left cheek mass initially diagnosed as lipoma. A wide resection was performed and SCSG was revealed in the histopathologic and immunohistochemistry analysis. The presentation of this case provides valuable information on the diagnostic and therapeutic complexities of SCSG. It emphasizes the need for standardized guidelines and further research to optimize pediatric patient outcomes. Overall, this case report is a crucial resource for clinicians and researchers, highlighting the importance of interdisciplinary collaboration and early intervention in managing SCSG.

4.
Cureus ; 16(5): e60430, 2024 May.
Article in English | MEDLINE | ID: mdl-38883124

ABSTRACT

Secretory breast carcinoma (SBC) is an extremely rare entity of breast cancer, which can affect all age groups. The diagnosis is based on the characteristic microscopic appearance, and despite the triple negativity or low hormone receptor positivity, SBC is generally characterized by a favorable prognosis. Due to the rarity of the disease, no clear consensus on optimal treatment is available. Nevertheless, conservative surgery or mastectomy is the main therapeutic option. The efficacy of chemotherapy, radiotherapy, and hormone therapy in this pathology has not been rigorously explored. We report the case of a 65-year-old woman with SBC treated with surgery and adjuvant radiotherapy, with a review of the literature.

5.
Clin Lab Med ; 44(2): 305-324, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38821646

ABSTRACT

The molecular signatures of many thyroid tumors have been uncovered. These discoveries have translated into clinical practice and are changing diagnostic and tumor classification paradigms. Here, the findings of recent studies are presented with special emphasis on how molecular insights are impacting the understating of RAS mutant thyroid nodules, Hürthel cell neoplasms, and unusual thyroid tumors, such as hyalinizing trabecular tumor, secretory carcinoma of the thyroid, and sclerosing mucoepidermoid carcinoma with eosinophilia. In addition, the utility of detecting actionable molecular alterations by immunohistochemistry in advanced and aggressive thyroid cancer is also discussed.


Subject(s)
Thyroid Neoplasms , Humans , Immunohistochemistry , Mutation , Thyroid Neoplasms/diagnosis , Thyroid Neoplasms/pathology , Thyroid Neoplasms/genetics
6.
Breast Cancer ; 31(3): 496-506, 2024 May.
Article in English | MEDLINE | ID: mdl-38546966

ABSTRACT

BACKGROUND: Primary breast salivary gland-type carcinoma has weak evidence to support its management due to its rare occurrence and limited data regarding its clinicopathological features and prognosis. Therefore, this study aimed to assess clinicopathological features and prognosis for this type of carcinoma diagnosed over the past decade and compared those to the common breast invasive carcinoma of no special type (NST). METHODS: This study used the Surveillance, Epidemiology, and End Results (SEER) database to extract data regarding primary breast salivary gland-type carcinoma. Using a propensity score-matching approach, the prognosis was compared with invasive carcinoma, NST. RESULTS: This study included 488 cases of salivary gland-type carcinoma and 375,660 cases of invasive carcinoma, NST, giving an occurrence ratio of 1 to 770. Adenoid cystic carcinoma (81%) formed the majority of salivary gland-type carcinoma, followed by secretory carcinoma (13%). For salivary gland-type carcinoma, acinic cell carcinoma histological type, tumor grade 3, HER2-overexpressed status, and higher AJCC stage groups were significant worse prognostic factors for breast cancer-specific survival in univariate analyses (p < 0.05). Nonetheless, tumor grade 3 and higher AJCC stage groups remained as significant independent prognostic factors in multivariate analysis (p < 0.05). The apparent better breast cancer-specific survival of salivary gland-type carcinoma as compared to that of invasive carcinoma, NST, was diminished following adjustment for differences in baseline clinicopathological features and treatment-related variables. CONCLUSIONS: This study suggests that when managing primary breast salivary gland-type carcinoma, greater emphasis should be given to the tumor grade and AJCC stage group in addition to acinic cell carcinoma histological type and HER2 overexpression. Conventional prognostic factors are important as salivary gland-type carcinoma had similar prognosis as invasive carcinoma, NST, following adjustment for confounding variables.


Subject(s)
Breast Neoplasms , Propensity Score , SEER Program , Salivary Gland Neoplasms , Humans , Female , Middle Aged , Prognosis , Breast Neoplasms/pathology , Breast Neoplasms/mortality , Breast Neoplasms/therapy , Salivary Gland Neoplasms/pathology , Salivary Gland Neoplasms/mortality , Salivary Gland Neoplasms/therapy , Aged , Adult , Carcinoma, Adenoid Cystic/pathology , Carcinoma, Adenoid Cystic/mortality , Carcinoma, Adenoid Cystic/therapy , Carcinoma, Adenoid Cystic/epidemiology , Neoplasm Staging , Carcinoma, Acinar Cell/pathology , Carcinoma, Acinar Cell/mortality , Carcinoma, Acinar Cell/epidemiology , Neoplasm Grading , Receptor, ErbB-2/metabolism
7.
Indian J Otolaryngol Head Neck Surg ; 76(1): 208-218, 2024 Feb.
Article in English | MEDLINE | ID: mdl-38440438

ABSTRACT

Secretory carcinoma (SC) is a relatively new disease entity, separate from acinic cell carcinoma (AciCC), which frequently displays ETV6-NTRK3 gene fusion. However, the differences between SC and AciCC remain ambiguous. Genetic diversity makes its diagnosis complicated. In this regard combined expression of immunohistochemistry markers S100/Mammaglobin/SOX10 and DOG1 is need of the hour as alternative methodology. The current systematic review was to investigate the diagnostic utility of combined immunohistochemical expression of S100/Mammaglobin/SOX10/DOG1 in distinction of SC from AciCC histologically. An electronic search of databases was carried out using MEDLINE by PubMed, Google scholar, Scopus and Web of science. Articles inclusive of SC and AciCC were assessed with S100/Mammaglobin/SOX10/DOG1 immunohistochemistry and their predominant expression pattern, predictive values, sensitivity and specificity were gathered. Fourteen eligible articles were analysed, which revealed predominant immunostaining pattern of S100 + /Mammaglobin + /SOX10 + /DOG1- by nearly all ETV6::NTRK3 fusion prevalent SCs alongside with other gene fusions like RET, MET and MAML3 with 98.4% sensitivity as well as 86.1% specificity. The evidence supports that S100/Mammaglobin/SOX10/DOG1 combined immunostaining can serve as a reliable diagnostic method to differentiate secretory from acinic cell carcinoma.

8.
J Dent Sci ; 19(1): 109-117, 2024 Jan.
Article in English | MEDLINE | ID: mdl-38303791

ABSTRACT

Background/purpose: Secretory carcinoma (SC) is a rare salivary gland tumor that featured by ETV6::NTRK3 gene fusion, and was included in the WHO Classification of Head and Neck Tumors since 2017. Nevertheless, the description of SCs by WHO is still vague. This study examined 18 SC cases by using both histomorphology and molecular pathology for diagnostic determination, especially immunohistochemical features of SCs. Materials and methods: Based on WHO characteristics, 18 patients with SC admitted between 2001 and 2022 were included in this study. Main histomorphological patterns, FISH analyses of the ETV6::NTRK3 gene fusion, and immunohistochemical analyses of S100, mammaglobin, DOG1, ADFP, CA6 and Ki-67 were performed. Results: Among the 18 SC patients, the median age of onset was 39.22 years. Grossly, the average tumor size in 2.96 cm with various texture from soft to tough. The majority patients were positive for S100, mammaglobin, and negative for DOG1, except for one patient negative for S100 (Case 18). All patients were positive for ADFP, and the majority patients were negative for CA6, except for Case 9. Two cases were found recurrence, and the tumor were found both in parotid gland with local invasion. Conclusion: Combined with the results of previous studies, we proposed that the combination of all five markers, S100, mammaglobin, DOG1, ADFP and CA6, could contribute more to differential diagnosis of SCs with other salivary carcinomas, especially with AciCC. The prognosis of SCs is optimistic in most cases, but larger patient cohort and long-term follow-up are still needed.

9.
J Med Case Rep ; 18(1): 78, 2024 Feb 05.
Article in English | MEDLINE | ID: mdl-38311786

ABSTRACT

BACKGROUND: Secretory carcinoma (SC) has been described as a distinct salivary gland tumor in the fourth edition of the World Health Organization (WHO) classification of head and neck tumors. SC is generally considered as a slow-growing low-grade malignant tumor, while several cases have been reported with high-grade features, and even metastases in the literature up until now. In this article, a soft tissue SC case is discussed with high-grade microscopic features and neural invasion. A review of the salivary gland SC cases with aggressive behavior is also debated. CASE PRESENTATION: A 65-year-old Caucasian man presented with a left neck mass for the past six months. The imaging studies demonstrated a very large cystic cervical mass (46 × 23 mm) with papillary projections in the anterolateral aspect of the left neck zone Vb. He underwent left radical neck dissection (level I-V) and was followed up for 12 months with the diagnosis of Secretory carcinoma. CONCLUSION: Although SC generally has a good outcome, multiple recurrences and unusual metastases may occur, which should be considered by either the pathologists or clinicians.


Subject(s)
Adenocarcinoma , Breast Neoplasms , Carcinoma , Salivary Gland Neoplasms , Male , Humans , Aged , Carcinoma/diagnosis , Salivary Gland Neoplasms/diagnostic imaging , Salivary Gland Neoplasms/surgery , Salivary Glands/pathology
10.
Article in English | MEDLINE | ID: mdl-38393895

ABSTRACT

 Secretory carcinoma of the breast (SCB) is a rare and specific type of breast cancer. Owing to its rarity, the number of SCB reports available is limited, with most of them focusing on clinical and pathological characteristics but no reports on its multimodal ultrasound (US) features. Thus, we present a rare case of SCB, retrospectively analyzing manifestations of US and contrast-enhanced US, as well as its pathological basis, aiming to enhance the understanding of US image features of SCB and provide more valuable information for clinical diagnosis. Moreover, the treatment strategy adopted for this patient may serve as a template for future management of SCB.

11.
Acta Cytol ; 68(2): 83-106, 2024.
Article in English | MEDLINE | ID: mdl-38228123

ABSTRACT

INTRODUCTION: The diagnosis of salivary gland secretory carcinoma (SC) in fine-needle aspiration specimens is challenging because its low-grade nature makes it difficult to differentiate it from various benign or malignant salivary gland neoplasms. Currently, the gold standard is demonstration of ETV6-NTRK3 fusion gene. However, the decision for ordering this costly molecular testing can be facilitated by the correct recognition of its cytomorphological features. The aim of the review was to determine the accuracy of fine-needle aspiration cytology (FNAC) in diagnosis of salivary gland SC. The secondary objective was to recognize varied cytomorphological patterns, characteristic features of SC and differentiate it from other neoplasms. METHODS: PubMed/MEDLINE, Science Direct, Embase, Cochrane review, and PROSPERO databases were searched for studies having the following key search terms: ("secretory carcinoma of salivary gland" OR "mammary analogue secretory carcinoma of salivary gland") AND ("Cytology" OR "Cytological features" OR "aspirate" OR "cytodiagnosis") published in the time frame of 2010 to June 2023. Studies reporting cytological features of the salivary gland tumors which were confirmed/diagnosed as SC on molecular investigation, were included in the systematic review. Finally, seventeen studies reporting a total of 45 cases were included in the metanalysis. RESULTS: The sensitivity of the FNAC in diagnosing SC in salivary gland is 27.7% (95% CI: 16.6-42.5%). The LR+ (positive likelihood ratio) was 0.654 (0.344-1.245), LR- (negative likelihood ratio) was 1.023 (0.538-1.946), and diagnostic odds ratio was 0.421 (0.129-1.374). The molecular testing and/or immunohistochemistry performed on cell block increased the diagnostic accuracy. CONCLUSION: Recognition of subtle cytomorphological patterns, i.e., papillary formation, clusters, and singly dispersed cells along with presence of fine intracytoplasmic vacuolations were the characteristic findings in majority of cases, confirmed with diagnostic molecular profiling. This may be helpful in identification of this rare entity with limited published literature and help in increasing diagnostic accuracy.


Subject(s)
Salivary Gland Neoplasms , Humans , Biopsy, Fine-Needle/methods , Salivary Gland Neoplasms/pathology , Salivary Gland Neoplasms/diagnosis , Salivary Gland Neoplasms/genetics , Female , Predictive Value of Tests , Salivary Glands/pathology , Adult , Male , Reproducibility of Results , Biomarkers, Tumor/genetics , Biomarkers, Tumor/analysis , Middle Aged , Carcinoma/pathology , Carcinoma/diagnosis , Carcinoma/genetics , Mammary Analogue Secretory Carcinoma/pathology , Mammary Analogue Secretory Carcinoma/diagnosis , Mammary Analogue Secretory Carcinoma/genetics , Oncogene Proteins, Fusion/genetics , Young Adult , Adolescent , Cytodiagnosis/methods , Aged , Diagnosis, Differential , Child , Cytology , ETS Translocation Variant 6 Protein , Receptor, trkC
12.
Oral Dis ; 2024 Jan 23.
Article in English | MEDLINE | ID: mdl-38263601

ABSTRACT

OBJECTIVES: To compare the clinicopathological, molecular, and immune features of conventional and high-grade transformation (HGT) secretory carcinoma (SC) in salivary glands. MATERIALS AND METHODS: The clinicopathological data of 88 cases including 74 conventional SCs and 14 SCs with HGT were reviewed. Targeted next-generation sequencing was performed in 11 SCs with HGT and 7 conventional SCs. The level of PD-L1 and CD8+ TILs was determined by immunohistochemistry. RESULTS: Compared with the conventional group, the rates of nodal metastasis, local recurrence, distant metastasis and mortality were significantly higher in the HGT cohort. Mutations of ARID1A/B, KMT2A, HOXD13, NRG1 and ETV6 genes were identified in HGT SCs. A recurrent E307G mutation in GATA6 gene was also observed in two cases. Two deceased HGT patients with distant metastasis harboured NOTCH3 mutations. ETV6-RET translocation was prone to occur in the HGT SCs. Additionally, PD-L1 expression was low, and CD8+ TILs were sparse in most HGT cases. CONCLUSION: Our findings reveal novel gene alterations involved in the progression of HGT in SCs. Most HGT SCs patients cannot benefit from PD-L1 blocking and may be approached with a distinct treatment strategy including the lymph node dissection and application of molecular target drugs in precision oncology.

13.
Laryngoscope ; 134(4): 1716-1724, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37909690

ABSTRACT

OBJECTIVES: Secretory Carcinoma is a malignant salivary gland tumor, initially described in 2010. This rare tumor is associated with the translocation t(12;15) (p13;q25), resulting in the fusion gene ETV6-NTRK3. Since this tumor is quite rare, most publications describe only small cohorts of patients. We aimed to investigate the clinical, pathological, and prognostic features of this newly defined malignant entity. DATA SOURCES: Pubmed, Google Scholar, and Web of Science databases. REVIEW METHODS: All published articles between 2010 and 2023 were reviewed. Search terms included the terms "Mammary Analogue Secretory Carcinoma" and "Secretory Carcinoma". All articles published in English reporting on Secretory Carcinoma of salivary glands were retrieved. RESULTS: One-hundred and 12 retrospective articles reporting a total of 674 patients were included, with 52% males and a mean age of 44.9 ± 18.9. The event rate for patients with advanced-stage disease (Stage 3/4) at presentation was 24.1% (95% CI 17.6%-31.9%, I2 = 9.2%), 14.6% for regional metastases (95% CI 10.5%-20%, I2 = 12%), and the event rate of distant metastasis was 8.4% (95% CI 5.5%-12.7%, I2 = 4.2%). Adjuvant radiotherapy was administered for 30.3% of patients (95% CI 24.1%-37.2%, I2 = 21.5%). The recurrence rate was 19% (95% CI 15.1%-23.8%, I2 = 5%). Survival outcomes showed a 17.2% death of disease rate for Secretory Carcinoma patients (95% CI 13.5%-21.8%, I2 = 7.3%). CONCLUSIONS: Secretory Carcinoma is a rare and relatively newly defined entity arising in the parotid gland most commonly. Characterized as a low-grade tumor, the majority of patients are diagnosed at an early stage, without regional or distant disease, and the prognosis is relatively good. LEVEL OF EVIDENCE: NA Laryngoscope, 134:1716-1724, 2024.


Subject(s)
Adenocarcinoma , Breast Neoplasms , Carcinoma , Salivary Gland Neoplasms , Male , Humans , Adult , Middle Aged , Female , Retrospective Studies , Biomarkers, Tumor/analysis , Oncogene Proteins, Fusion/genetics , Salivary Gland Neoplasms/epidemiology , Salivary Gland Neoplasms/therapy , Salivary Gland Neoplasms/diagnosis , Carcinoma/pathology , Salivary Glands/pathology
14.
J Cytol ; 40(4): 192-199, 2023.
Article in English | MEDLINE | ID: mdl-38058671

ABSTRACT

Background: Secretory carcinoma (SC) is a newly described entity which has been often misdiagnosed earlier as acinic cell carcinoma on cytology. Diagnosing SC was initially based upon identifying the ETV6:NTRK3 fusion gene with the help of fluorescence in situ hybridization (FISH). Lately, with more knowledge of the reliable histomorphology, cytology, and immunohistochemistry features, definitive diagnosis can be confidently made without the help of FISH in almost every case. Materials and Methods: Six histologically confirmed cases of SC were studied. The cytology slides of all the six cases were retrieved and reviewed to identify the characteristic features which could have helped in raising the possibility of SC on fine needle aspiration cytology itself. Cell blocks were also studied, wherever available. Results: Patients were all male with average age of 35.2 years. The six cases in the current study demonstrated at least focal cytoplasmic vacuolization of varying sizes, papillae formations, and bland nuclear features on fine needle aspirate smears. It was also seen that S-100 and mammaglobin immunohistochemistry (IHC) are very helpful in confirming the diagnosis. Conclusions: The results of the current study highlight the cytomorphological features which may help in clinching the diagnosis SC on cytology itself. They also highlight certain cytological features which help to rule out the other differential diagnoses.

15.
Diagn Cytopathol ; 2023 Nov 11.
Article in English | MEDLINE | ID: mdl-37950566

ABSTRACT

Secretory carcinoma is a relatively recently discovered low-grade salivary gland carcinoma with morphological similarities to its breast counterpart. The histopathological features of this entity are well established; however, the cytomorphological features are not well evaluated, leading to diagnostic challenges and pitfalls. We report a case of secretory carcinoma (SC) of the parotid gland, which was misdiagnosed as acinic cell carcinoma (ACC) on fine-needle aspiration cytology, to describe the cytological features.

16.
Ann Clin Lab Sci ; 53(5): 800-805, 2023 Sep.
Article in English | MEDLINE | ID: mdl-37945013

ABSTRACT

Secretory carcinoma (SC), also known as mammary analogue secretory carcinoma (MASC), is a rare salivary gland neoplasm with distinctive morphology that harbors a diagnostic ETV6 gene rearrangement. MASC was first described as a type of salivary gland neoplasm in 2010 and resembles breast secretory carcinoma. It is often mistaken for other neoplasms. It usually acts as an indolent tumor but can occasionally behave in an aggressive manner. We present a rare case of a patient with an aggressive SC/MASC of maxillary gingivobuccal sulcus with microcystic, solid and papillary patterns that showed ETV6 gene rearrangement by fluorescence in situ hybridization. Next-generation sequencing revealed t(12;15)(p13;q25) ETV6-NTRK3 translocation. Because SC/MASCs harbor the ETV6-NTRK3 translocation, molecular studies and immunostains are crucial to confirm the diagnosis and direct therapy.


Subject(s)
Carcinoma , Mammary Analogue Secretory Carcinoma , Salivary Gland Neoplasms , Humans , In Situ Hybridization, Fluorescence , Gingiva/pathology , Lymphatic Metastasis , Oncogene Proteins, Fusion/genetics , Biomarkers, Tumor/genetics , Carcinoma/chemistry , Mammary Analogue Secretory Carcinoma/genetics , Translocation, Genetic/genetics , Salivary Gland Neoplasms/genetics , Salivary Gland Neoplasms/pathology , Gene Fusion/genetics
17.
Ann Diagn Pathol ; 67: 152220, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37924657

ABSTRACT

Salivary gland tumors are diverse in morphology and both benign and malignant tumors may pose diagnostic challenges especially in small biopsies. Secretory carcinoma (SC) is histologically characterized by microcysts, follicles, solid growth pattern and occasional papillary structures, and absence of zymogen granules. SC is molecularly defined by the presence of novel gene fusion ETV6::NTRK3. Among the positive stains (S100 and mammaglobin), MUC4 is now another promising marker for the diagnosis of SC, that would enable the pathologists to exclude other morphologically close simulators. Aim of this study was to report clinicopathological features and assess utility of MUC4 in the diagnosis of SC. MUC4 was performed on 22 cases of SC. Glass slides were reviewed to record morphological patterns and staining of S100, mammaglobin, DOG1 and MUC4. Age ranged from 9 to 63 years with mean age of 34.41 ± 16.28 years. The male: female ratio was 72.7 %:27.3 %. The majority occurred in major salivary glands. A combination of patterns was seen; microfollicles were the most prevalent (90 %) followed by papillary-cystic and macrofollicles. MUC4 was positive in 19/21 (90 %) cases with almost equal number of 2+ and 3+ staining. MUC4 was negative in all cases of acinic cell carcinoma, polymorphous adenocarcinoma, adenoid cystic carcinoma, salivary duct carcinoma, myopepithelioma and myoeithelial carcinoma, cystadenoma and cribriform adenocarcinoma and all except 3 cases of mucoepidermoid carcinoma tested. Overall sensitivity of MUC4 was 95.4 %, specificity 90 %, p-value being <0.01, positive predictive value 87.5 % and negative predictive value 96.4 %. A characteristic cytoplasmic granular pattern was observed in 76.1 % tumors. S100 and mammaglobin were positive in all the performed cases. DOG1 was positive in 6/11 (28.5 %) tumors. In conclusion, MUC4 is a useful addition to a diagnostic immunohistochemical panel for SC, and to distinguish it from close potential mimickers such as acinic cell carcinoma, especially in practice settings where molecular testing is unavailable.


Subject(s)
Carcinoma, Acinar Cell , Carcinoma , Salivary Gland Neoplasms , Humans , Male , Female , Adolescent , Young Adult , Adult , Middle Aged , Child , Biomarkers, Tumor/genetics , Carcinoma, Acinar Cell/diagnosis , Carcinoma, Acinar Cell/pathology , Immunohistochemistry , Salivary Glands/pathology , Carcinoma/diagnosis , Carcinoma/pathology , Salivary Gland Neoplasms/pathology , Mammaglobin A/metabolism , Carrier Proteins , Mucin-4
18.
Contemp Oncol (Pozn) ; 27(2): 101-108, 2023.
Article in English | MEDLINE | ID: mdl-37794988

ABSTRACT

Introduction: Secretory carcinoma (SC) of the salivary gland is an extraordinarily rare tumour. Accurate diagnosis of SC is crucial for understanding the clinical course, prognosis, and selection of optimal therapy. The aim of this research was to analyse retrospectively the clinical and pathological characteristics of patients diagnosed with SC of the salivary gland from 2017 onwards, which aligns with its addition to the World Health Organization classification. Material and methods: We conducted a retrospective, single-centre, clinicopathological analysis of patients diagnosed with SC of the salivary gland between 2017 and 2022. The analysis included the evaluation of NTRK3 gene rearrangements and immunohistochemical (IHC) profiling. Results: The study included 6 patients, comprising 4 women and 2 men. The average age of the patients was 50 years (standard deviation 26). Three cases presented with tumours in the parotid gland, while one case each involved the submandibular gland, sinonasal tract, and buccal mucosa. Interestingly, despite the characteristic IHC profile, each case was initially diagnosed as a different type of salivary gland cancer. Next-generation sequencing analysis was performed in 3 cases, revealing the presence of the ETV6-NTRK3 fusion gene. This cohort notably features an intriguing case: the youngest patient documented in literature, distinguished by extended follow-up and delayed recurrence. Conclusions: In summary, emphasizing the risk of misdiagnosis is pivotal in the context of SC of the salivary gland, which can manifest across diverse glandular sites. Accurate diagnosis, underscored by the assessment of NTRK3 gene rearrangements, assumes a critical role in guiding effective management and treatment decisions.

19.
J Stomatol Oral Maxillofac Surg ; 124(6S): 101635, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37709146

ABSTRACT

A woman presented a right submandibular gland lesion with cytologic diagnosis of mucoepidermoid carcinoma. Patient underwent sialoadenectomy en bloc with supraomohyoid neck dissection. Positivity for ETV6-NTRK3 genes fusion on surgical sample led to final diagnosis of secretory carcinoma (SC). Secretory carcinoma has been renamed by WHO in 2017 from mammary-analogue-secretory carcinoma (MASC). Only 649 have been reported until 2019. While cytologic alteration are shared with other neoplasms as the acinic cell and mucoepidermoid carcinomas, ETV6-NTRK3 rearrangement is pathognomonic of SC. Although usually indolent and with low-stage presentation, SC has higher rate of local recurrences and nodal involvement than ACC. Surgical treatment represent the gold standard. Real prevalence of SC is probably underestimated due to the recent WHO 2017 reclassification. While cytologic analysis does not allow to discriminate SC from other malignancies, chromosomal examination is recommended. When low-grade SC is diagnosed, complete surgical resection assures good prognosis.


Subject(s)
Carcinoma, Mucoepidermoid , Carcinoma , Salivary Gland Neoplasms , Female , Humans , Carcinoma, Mucoepidermoid/diagnosis , Carcinoma, Mucoepidermoid/genetics , Carcinoma, Mucoepidermoid/surgery , Salivary Gland Neoplasms/diagnosis , Salivary Gland Neoplasms/genetics , Salivary Gland Neoplasms/surgery , Oncogene Proteins, Fusion/genetics , Immunohistochemistry , Salivary Glands/pathology , Diagnostic Errors
20.
SAGE Open Med ; 11: 20503121231200103, 2023.
Article in English | MEDLINE | ID: mdl-37767536

ABSTRACT

Objectives: Mammary analog secretory carcinoma (MASC) is a classification of salivary gland tumors, recently included within the term secretory carcinoma. Previous descriptions of this diagnosis have largely consisted of case reports and case series with few studies investigating its clinical characteristics as compared to non-MASC tumors. Our objective was to use a large patient database to compare the clinical characteristics of mammary analog secretory carcinoma vs. non-mammary analog secretory carcinoma salivary gland tumors. Methods: The National Cancer Database was queried between September and October 2022 for histological diagnosis of mammary analog secretory carcinoma and non-MASC salivary tumors. Patients diagnosed with mammary analog secretory carcinoma and non-mammary analog secretory carcinoma salivary tumors between the period of 2004 through 2019 were included in this analysis. Various demographic and clinical variables were abstracted from the database and compared using Wilcoxon rank sum and chi-square tests. Survival was compared between cohorts using Cox proportional hazards regression. Results: Overall, compared to non-mammary analog secretory carcinoma diagnoses (n = 47668), mammary analog secretory carcinoma tumors (n = 384) affected younger individuals, displayed favorable pathologic staging and tumor grade, and were less likely to invade surrounding tissues. Patients with mammary analog secretory carcinoma tumors also received treatment more quickly following diagnosis compared to patients with non-mammary analog secretory carcinoma tumors. The risk of death was 4.3 times greater for non-mammary analog secretory carcinoma diagnoses when adjusted for patient variables (hazard ratio = 4.3, 95% confidence interval [2.37-7.71], p < 0.001). Conclusions: Clinically, mammary analog secretory carcinoma salivary tumors have a more indolent course compared to other salivary cancers. Additional studies are needed to determine the natural history of this tumor type.

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