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1.
CA Cancer J Clin ; 73(6): 597-619, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37490348

RESUMO

Salivary gland cancers are a rare, histologically diverse group of tumors. They range from indolent to aggressive and can cause significant morbidity and mortality. Surgical resection remains the mainstay of treatment, but radiation and systemic therapy are also critical parts of the care paradigm. Given the rarity and heterogeneity of these cancers, they are best managed in a multidisciplinary program. In this review, the authors highlight standards of care as well as exciting new research for salivary gland cancers that will strive for better patient outcomes.


Assuntos
Neoplasias das Glândulas Salivares , Humanos , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/terapia
2.
Curr Oncol Rep ; 26(6): 625-632, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38668924

RESUMO

PURPOSE OF REVIEW: Although non-squamous tumors of the larynx are really rare, they may not always be viewed from the same perspective in the multidisciplinary treatment approach once the diagnosis is made. In this review, non-squamous tumors of the larynx and current approaches in treatment will be discussed. RECENT FINDINGS: When the studies and meta-analyses presented in the last 5 years are evaluated, it is seen that these tumors usually show non-specific symptoms. Due to their submucosal location, the stage of the disease at the time of diagnosis is often advanced. In the literature, treatment may vary in these particular cases. The majority of non-squamous tumors of the larynx includes minor salivary gland tumors, neuroendocrine carcinomas, sarcomas, cartilage tumors, and malignant melanomas. Once treating a patient with these diagnoses, it should be kept in mind that the histopathological subtype is almost as important as the stage of the tumor.


Assuntos
Neoplasias Laríngeas , Humanos , Neoplasias Laríngeas/terapia , Neoplasias Laríngeas/patologia , Neoplasias Laríngeas/diagnóstico , Melanoma/patologia , Melanoma/terapia , Melanoma/diagnóstico , Sarcoma/terapia , Sarcoma/patologia , Sarcoma/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/terapia , Neoplasias das Glândulas Salivares/diagnóstico , Carcinoma Neuroendócrino/patologia , Carcinoma Neuroendócrino/terapia , Carcinoma Neuroendócrino/diagnóstico
3.
Jpn J Clin Oncol ; 54(3): 229-247, 2024 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-38018262

RESUMO

Salivary gland-type tumors of the lung are thought to originate from the submucosal exocrine glands of the large airways. Due to their rare occurrence, reports of their study are limited to small-scale or case reports. Therefore, daily clinical practices often require a search for previous reports. In the last 20 years, several genetic rearrangements have been identified, such as MYB::NF1B rearrangements in adenoid cystic carcinoma, CRTC1::MAML2 rearrangements in mucoepidermoid carcinoma, EWSR1::ATF1 rearrangements in hyalinizing clear cell carcinoma and rearrangements of the EWSR1 locus or FUS (TLS) locus in myoepithelioma and myoepithelial carcinoma. These molecular alterations have been useful in diagnosing these tumors, although they have not yet been linked to molecularly targeted therapies. The morphologic, immunophenotypic, and molecular characteristics of these tumors are similar to those of their counterparts of extrapulmonary origin, so clinical and radiologic differential diagnosis is required to distinguish between primary and metastatic disease of other primary sites. However, these molecular alterations can be useful in differentiating them from other primary lung cancer histologic types. The management of these tumors requires broad knowledge of the latest diagnostics, surgery, radiotherapy, bronchoscopic interventions, chemotherapy, immunotherapy as well as therapeutic agents in development, including molecularly targeted agents. This review provides a comprehensive overview of the current diagnosis and treatment of pulmonary salivary gland tumors, with a focus on adenoid cystic carcinoma and mucoepidermoid carcinoma, which are the two most common subtypes.


Assuntos
Carcinoma Adenoide Cístico , Carcinoma Mucoepidermoide , Carcinoma , Neoplasias Pulmonares , Mioepitelioma , Neoplasias das Glândulas Salivares , Humanos , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/genética , Carcinoma Adenoide Cístico/terapia , Carcinoma Mucoepidermoide/diagnóstico , Carcinoma Mucoepidermoide/genética , Carcinoma Mucoepidermoide/terapia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/terapia , Carcinoma/patologia , Mioepitelioma/patologia , Glândulas Salivares/metabolismo , Glândulas Salivares/patologia , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/terapia
4.
Semin Diagn Pathol ; 41(4): 190-196, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38734484

RESUMO

The differential diagnosis of salivary gland lesions with epithelial components and lymphoid stroma is often challenging. Salivary gland carcinoma with tumor-associated lymphoid proliferation, tumors composed of both epithelial and lymphoid components, lymphoid neoplasms in the salivary gland, and inflammatory lesions are all included in this category. It encompasses inflammatory lesions and neoplastic lesions. With the exception of Warthin tumors, these lesions are rare, making them more difficult to diagnose. Carcinoma showing thymus-like elements has recently been reported in the salivary gland. Similar to thymic carcinoma, tumor cells are positive for CD5 and are accompanied by T lymphocytes.


Assuntos
Neoplasias das Glândulas Salivares , Humanos , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Diagnóstico Diferencial , Glândulas Salivares/patologia , Adenolinfoma/patologia , Adenolinfoma/diagnóstico
5.
Semin Diagn Pathol ; 41(4): 173-181, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38879353

RESUMO

Basaloid salivary gland neoplasms are a diverse and varied group of benign and malignant tumors. The term 'basaloid' is broadly used in reference to cells with elevated nuclear to cytoplasmic ratio, sparse cytoplasm, and hyperchromatic nuclei. However, a subset may also fit within the "small round blue cell tumor" morphologic category or the "biphasic" salivary gland tumor category. Furthermore, there are no established thresholds for the proportion of basaloid tumor cells needed to consider a tumor within the basaloid spectrum. Given the implicit variability in what is considered a basaloid salivary gland tumor, one may question the inclusion of certain entities (canalicular adenoma, HMGA2::WIF1 pleomorphic adenoma, polymorphous adenocarcinoma) in this review based on classic morphologic features. However, salivary gland tumors with even minor basaloid components may appear 'basaloid' in small biopsy specimens and, thus, a choice was made to focus on common and uncommon diagnostic differentials with this in mind. Entities that will be covered in this review also include basal cell adenoma and basal cell adenocarcinoma, adenoid cystic carcinoma, lymphoepithelial carcinoma, sialoblastoma, adamantinoma-like Ewing Sarcoma, NUT carcinoma, and carcinoma showing thymus-like differentiation.


Assuntos
Neoplasias das Glândulas Salivares , Humanos , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Diagnóstico Diferencial , Biomarcadores Tumorais/análise
6.
Semin Diagn Pathol ; 41(4): 207-211, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38719707

RESUMO

Salivary gland tumors (SGT) display morphological diversity and pose diagnostic challenges. Preoperative fine needle aspiration cytology (FNAC) is a minimally invasive and efficient diagnostic test. However, due to the limited sample size, the final diagnosis may not be established based on FNAC alone. Although cytomorphology and architecture are usually preserved on FNAC, morphologic changes specific to FNAC can complicate the diagnosis. The Milan System for Reporting Salivary Gland Cytopathology categorizes complex FNAC interpretations. Because the cytological diagnosis is closely linked to the histological diagnosis, a multidimensional approach considering the possibility of several differential diagnoses is necessary. From the standpoint of treatment, distinguishing high-grade malignancy from low-grade malignancy is more important than distinguishing malignancy from benign tumors.


Assuntos
Neoplasias das Glândulas Salivares , Humanos , Biópsia por Agulha Fina , Citodiagnóstico/métodos , Diagnóstico Diferencial , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Glândulas Salivares/patologia
7.
Semin Diagn Pathol ; 41(4): 182-189, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38609754

RESUMO

Mucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor. Varying sized cysts and sheets composed of three cell types (epidermoid, intermediate, and mucous cells) with varying degrees of atypia form the characteristic histological appearance of MEC. MEC frequently contains a wide variety of modified tumor cells and can be entirely cystic or completely solid. Under these circumstances, MEC requires critical differentiation from many mimickers, ranging from simple cysts and benign tumors to high-grade carcinomas. Tumor-associated lymphoid proliferation and sclerotic changes in the stroma also contribute to diagnostic difficulties. Several well-known diagnostically challenging variants (oncocytic, clear cell, spindle cell, and sclerosing) exist in MEC. With the advent of studies on specific CRTC1/3::MAML2 fusion genes in MEC, newly proposed subtypes have emerged, including Warthin-like and non-sebaceous lymphadenoma-like MECs. In addition to the recently defined mucoacinar variant with a serous cell phenotype, MEC devoid of squamous differentiation has also been reported, implying the need to reconsider this basic concept. In this article, we outline the general clinical features and MAML2 status of conventional MEC and review the cytoarchitectural subtypes, with an emphasis on a pitfall in the interpretation of this histologically diverse single entity.


Assuntos
Carcinoma Mucoepidermoide , Neoplasias das Glândulas Salivares , Carcinoma Mucoepidermoide/patologia , Carcinoma Mucoepidermoide/genética , Carcinoma Mucoepidermoide/diagnóstico , Humanos , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/diagnóstico , Diagnóstico Diferencial , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Fatores de Transcrição/genética , Transativadores
8.
Semin Diagn Pathol ; 41(4): 197-206, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38658249

RESUMO

High-grade carcinomas of the salivary glands are a group of several tumor entities with highly malignant histologic appearances, and have an aggressive biological behavior accompanied by poor a prognosis. In general, they require more intensive treatment than low- or intermediate-grade carcinomas. High-grade salivary carcinomas are rare and the microscopic features often overlap between different tumor types, making an appropriate diagnosis challenging in daily practice settings. However, with recent rapid advances in molecular pathology and molecular-targeted therapy in this field, there is a growing need to properly classify tumors, rather than just diagnosing the cases as "high-grade carcinomas". This leads to specific treatment strategies. In this article, we review representative high-grade salivary gland carcinomas, including salivary duct carcinoma and its histologic subtypes, high-grade mucoepidermoid carcinoma, solid-type adenoid cystic carcinoma, and high-grade transformation of low- or intermediate-grade carcinomas, and discuss their differential diagnoses and clinical implications. Other rare entities, such as neuroendocrine carcinoma, NUT carcinoma, and metastatic carcinoma, should also be considered before diagnosing high-grade carcinoma, NOS. Of these tumors, salivary duct carcinoma has received the most attention because of its strong association with androgen deprivation and anti-HER2 therapies. Other tumor-type-specific treatments include anti-TRK therapy for high-grade transformation of secretory carcinoma, but further therapeutic options are expected to be developed in the future. It should be emphasized that detailed histological evaluation with adequate sampling, in addition to the effective use of molecular ancillary tests, is of the utmost importance for a suitable diagnosis.


Assuntos
Tomada de Decisão Clínica , Neoplasias das Glândulas Salivares , Humanos , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/terapia , Gradação de Tumores , Carcinoma/patologia , Carcinoma/diagnóstico , Carcinoma/terapia , Diagnóstico Diferencial
9.
World J Surg Oncol ; 22(1): 102, 2024 Apr 18.
Artigo em Inglês | MEDLINE | ID: mdl-38637826

RESUMO

BACKGROUND: Basal cell adenoma (BCA) is a rare benign tumor within the salivary glands. Basal cell adenocarcinoma (BCAC), the malignant counterpart of BCA, is also an exceedingly rare tumor with very limited clinical studies conducted. This study aims to investigate the clinical characteristics, demographics, and surgical outcomes of patients diagnosed with BCA and BCAC within the parotid gland. METHODS: A retrospective analysis from May 2003 to August 2023 was performed for all patients undergoing parotidectomy for masses. Retrospective data on gender, age, tumor characteristics, and outcomes were collected. Surgical approaches, including negative margin attainment, capsule removal, and histological diagnosis, were also detailed. RESULTS: The study included 1268 patients who underwent parotidectomy, resulting in 81 cases of BCA and 7 cases of BCAC. BCA patients, with a mean age of 55.1 years, showed diverse age distribution and predominantly presented in the 50s. In BCAC cases, seven female patients exhibited a predominant location in the deep lobes. FNA revealed BCAC in three out of seven cases, and subsequent parotidectomy was performed, resulting in no observed recurrences or metastases. CONCLUSION: This study reports the largest number of BCA cases from a single institution and provides comprehensive insights into the demographics, tumor characteristics, and clinical outcomes of both BCA and BCAC. Although further research should be conducted, based on clinical follow-up results, appropriately including the capsule in the tumor excision indicates favorable outcomes, especially when the tumor size is not large.


Assuntos
Adenocarcinoma , Adenoma , Neoplasias Parotídeas , Neoplasias das Glândulas Salivares , Humanos , Feminino , Pessoa de Meia-Idade , Glândula Parótida/cirurgia , Glândula Parótida/patologia , Estudos Retrospectivos , Adenocarcinoma/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Adenoma/cirurgia , Adenoma/patologia , Resultado do Tratamento , Neoplasias Parotídeas/cirurgia , Neoplasias Parotídeas/patologia
10.
Cytopathology ; 35(3): 330-343, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38308401

RESUMO

Recently, significant advances in the molecular characterization of salivary gland neoplasms have facilitated the classification and diagnosis of specific diagnostic entities. In the highly challenging diagnostic scenario of salivary malignancies, molecular testing is increasingly being adopted in routine practice to refine the cytological diagnosis of salivary lesions. Here, we reviewed the most recent evidence in the field of salivary glands molecular cytopathology.


Assuntos
Neoplasias das Glândulas Salivares , Glândulas Salivares , Humanos , Biópsia por Agulha Fina , Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/genética , Técnicas de Diagnóstico Molecular , Estudos Retrospectivos
11.
Ann Diagn Pathol ; 70: 152283, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38447254

RESUMO

INTRODUCTION: Primary pulmonary salivary gland-type tumours (PPSGT) are rare lung neoplasms arising from submucosal seromucinous glands in the central airway. METHODS AND RESULTS: We retrospectively analysed the clinicopathological features of 111 PPSGTs diagnosed at our institute between 2003 and 2021. The mean age at diagnosis was 43.8 years(range 6-78 years) and a male-to-female ratio of 2:1. On imaging, 92 % of cases had centrally located tumours and 37.3 % were early stage. The histopathological types included 70 cases (63 %) of mucoepidermoid carcinoma (MEC), 31 cases (27.7 %) of adenoid cystic carcinoma (ADCC), two cases of myoepithelial carcinoma, one case each of acinic cell carcinoma (ACC), clear cell carcinoma (CCC), epithelial myoepithelial carcinoma (EMC) and 5 others [including adenocarcinoma of minor salivary gland origin(n = 3), carcinoma with sebaceous differentiation(n = 1) and poorly differentiated carcinoma of salivary gland type(n = 1)]. The size of the tumours found in the resection specimens ranged from 1 cm to 13 cm, with an average size of 4.9 cm. High-risk attributes such as lymphovascular invasion (LVI), perineural invasion (PNI), pleural involvement, positive resection margins, and nodal metastasis were identified in 15.3 %, 15.3 %, 13.6 %,15.2 % and 6.7 % of cases, respectively. These attributes were found to be more frequent in ADCC than in MEC. Surgery was the main treatment modality [68/84 (80 %) cases]. ADCC cases had more recurrence and distant metastasis than MEC cases. The 3- year overall-survival (OS) and recurrence-free survival(RFS) were better in patients with age lesser than 60 years(p-value <0.0001), low pT stage (p-value 0.00038) and lower grade of MEC(p-value-0.0067). CONCLUSION: It is crucial to have an acquaintance with the morphologic spectrum and immunophenotypic characteristics of PPSGT to recognize them in this unusual location. In tandem, it is crucial to differentiate them from conventional primary non-small cell lung carcinoma, as the management protocols and prognostic implications differ significantly.


Assuntos
Neoplasias Pulmonares , Neoplasias das Glândulas Salivares , Humanos , Masculino , Pessoa de Meia-Idade , Feminino , Estudos Retrospectivos , Adulto , Idoso , Adolescente , Neoplasias Pulmonares/patologia , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Adulto Jovem , Criança , Carcinoma Mucoepidermoide/patologia , Carcinoma Mucoepidermoide/diagnóstico , Neoplasias Brônquicas/patologia , Neoplasias Brônquicas/diagnóstico , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/diagnóstico
12.
Int J Mol Sci ; 25(16)2024 Aug 13.
Artigo em Inglês | MEDLINE | ID: mdl-39201484

RESUMO

Salivary gland tumors are highly variable in clinical presentation and histology. The World Health Organization (WHO) classifies 22 types of malignant and 11 types of benign tumors of the salivary glands. Diagnosis of salivary gland tumors is based on imaging (ultrasound, magnetic resonance imaging) and fine-needle aspiration biopsy, but the final diagnosis is based on histopathological examination of the removed tumor tissue. In this pilot study, we are testing a new approach to identifying peptide biomarkers in saliva that can be used to diagnose salivary gland tumors. The research material for the peptidomic studies was extracts from washings of neoplastic tissues and healthy tissues (control samples). At the same time, saliva samples from patients and healthy individuals were analyzed. The comparison of the peptidome composition of tissue extracts and saliva samples may allow the identification of potential peptide markers of salivary gland tumors in patients' saliva. The peptidome compositions extracted from 18 tumor and 18 healthy tissue samples, patients' saliva samples (11 samples), and healthy saliva samples (8 samples) were analyzed by LC-MS tandem mass spectrometry. A group of 109 peptides was identified that were present only in the tumor tissue extracts and in the patients' saliva samples. Some of the identified peptides were derived from proteins previously suggested as potential biomarkers of salivary gland tumors (ANXA1, BPIFA2, FGB, GAPDH, HSPB1, IGHG1, VIM) or tumors of other tissues or organs (SERPINA1, APOA2, CSTB, GSTP1, S100A8, S100A9, TPI1). Unfortunately, none of the identified peptides were present in all samples analyzed. This may be due to the high heterogeneity of this type of cancer. The surprising result was that extracts from tumor tissue did not contain peptides derived from salivary gland-specific proteins (STATH, SMR3B, HTN1, HTN3). These results could suggest that the developing tumor suppresses the production of proteins that are essential components of saliva.


Assuntos
Biomarcadores Tumorais , Glândula Parótida , Saliva , Humanos , Saliva/química , Saliva/metabolismo , Masculino , Glândula Parótida/patologia , Glândula Parótida/metabolismo , Glândula Parótida/química , Feminino , Biomarcadores Tumorais/análise , Pessoa de Meia-Idade , Adulto , Proteoma/análise , Proteômica/métodos , Peptídeos/análise , Idoso , Espectrometria de Massas em Tandem , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/metabolismo , Projetos Piloto
13.
Zhonghua Bing Li Xue Za Zhi ; 53(2): 149-154, 2024 Feb 08.
Artigo em Zh | MEDLINE | ID: mdl-38281782

RESUMO

Objective: To explore the correlation between MYB/NFIB gene fusion and clinicopathological features such as tumor grade and prognosis of head and neck adenoid cystic carcinoma (ACC), and to assess the concordant rate of fluorescent in situ hybridization (FISH) with MYB and NFIB immunohistochemistry. Methods: FISH detection of MYB/NFIB gene fusion was performed on 48 head and neck ACC cases and 15 non-ACC salivary gland tumors at National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China during April 2014 and January 2020. ACC cases were divided into grade Ⅰ-Ⅱ, grade Ⅲ and high-grade transformation, according to pathological grading criteria. Prognosis, FISH results and other clinicopathological characteristics were analyzed. MYB and NFIB immunohistochemistry was performed on the 48 ACC and 15 non-ACC cases. The diagnostic accuracy of FISH and immunohistochemistry was compared. Results: FISH detected MYB/NFIB gene fusion in 41.7% (20/48) of the ACC. Its positive rate was inversely correlated with higher pathological grades (P=0.036). The higher histological grade was linked to worse progression-free survival (P=0.024), whereas there was no correlation between the status of gene fusion detected by FISH and progression-free survival (P=0.536). FISH didnot detect MYB/NFIB gene fusion in 15 non-ACC salivary gland tumors The specificity of diagnosing ACC is 100% for both FISH detection of gene fusion and immunohistochemical detection of MYB expression. However, the sensitivity for both methods was only about 41.7%, respectively. By combining FISH and MYB immunohistochemistry, the sensitivity for diagnosing ACC was increased to 66.7%. Conclusions: MYB/NFIB gene fusion has a lower detection rate in grade Ⅲ ACC and high-grade transformation ACC. Meanwhile gene fusion status is not correlated with prognosis. The sensitivity for diagnosing ACC can be improved by combining FISH and MYB immunohistochemistry.


Assuntos
Carcinoma Adenoide Cístico , Neoplasias das Glândulas Salivares , Humanos , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/genética , Hibridização in Situ Fluorescente , Proteínas de Fusão Oncogênica/genética , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/genética , Fusão Gênica , Prognóstico , Fatores de Transcrição NFI/genética
14.
Histopathology ; 82(2): 305-313, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36208053

RESUMO

Mucoepidermoid carcinoma (MEC) is historically defined by a mix of squamoid, intermediate, and mucous cells, but we have recently encountered several cases lacking immunoreactivity for squamous markers p40, p63, and CK5/6 despite MAML2 fusions. This study will characterise these unique tumours. Ten MEC were collected arising from the parotid gland (n = 4), submandibular gland (n = 2), nasopharynx (n = 1), base of tongue (n = 1), bronchus (n = 1), and trachea (n = 1). Six tumours were low-grade, two intermediate-grade, one high-grade, and one demonstrated low-grade areas with high-grade transformation. Four cases were oncocytic, four had clear-cell features, two had spindle cell features, and one high-grade MEC had prominent solid, cord-like, and micropapillary features. The tumours were negative for p40 (10/10), p63 (10/10), and CK5/6 (9/9). Targeted RNA sequencing demonstrated CRTC1::MAML2 in five cases, CRTC3::MAML2 in two, and a novel MAML2::CEP126 in the unusual high-grade case. In two cases with insufficient RNA, MAML2 fluorescence in situ hybridisation (FISH) showed rearrangement. Genetically-confirmed MEC may lack overt squamous differentiation by histology and immunohistochemistry. While most cases harboured canonical fusions and fit within the spectra of MEC variants with oncocytic, clear cell, and/or spindle cell features, one had a novel MAML2::CEP126 fusion and unusual morphology. In MEC without squamoid cells, the use of immunohistochemistry may hinder, rather than aid, the correct diagnosis. In such cases, MAML2 analysis is most useful. The historical definition of MEC as a carcinoma with squamoid, intermediate and mucous cells should be revisited.


Assuntos
Carcinoma Mucoepidermoide , Carcinoma de Células Escamosas , Neoplasias das Glândulas Salivares , Humanos , Carcinoma Mucoepidermoide/diagnóstico , Carcinoma Mucoepidermoide/genética , Imuno-Histoquímica , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/genética , Transativadores/genética
15.
Histopathology ; 83(5): 685-699, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37350081

RESUMO

AIMS: The discovery of tumour type-specific gene fusion oncogenes in benign and malignant salivary gland and sinonasal (SGSN) tumours has significantly increased our knowledge about their molecular pathology and classification. METHODS AND RESULTS: We developed a new targeted multiplexed next-generation sequencing (NGS)-based method that utilizes ligation dependent reverse-transcriptase polymerase chain reaction (LD-RT-PCR) to detect oncogenic fusion transcripts involving 116 genes, leading to 96 gene fusions known to be recurrently rearranged in these tumours. In all, 180 SGSN tumours (formalin-fixed, paraffin-embedded samples, 141 specimens and 39 core needle biopsies) from the REFCORpath (French network for rare head and neck cancers) with previously identified fusion genes by fluorescent in situ hybridisation (FISH), RT-PCR, or molecular immunohistochemistry were selected to test its specificity and sensitivity and validate its diagnostic use. Tested tumours encompassed 14 major tumours types, including secretory carcinoma, mucoepidermoid carcinoma, adenoid cystic carcinoma, salivary gland intraductal carcinoma, clear cell carcinoma, pleomorphic adenoma, adamantinoma-like Ewing Sarcoma, EWSR1::COLCA2 sinonasal sarcoma, DEK::AFF2 sinonasal carcinoma, and biphenotypic sinonasal sarcoma. In-frame fusion transcripts were detected in 97.8% of cases (176/180). Gene fusion assay results correlated with conventional techniques (immunohistochemistry [IHC], FISH, and RT-PCR) in 176/180 tumours (97.8%). CONCLUSION: This targeted multiplexed NGS-based LD-RT-PCR method is a robust, highly sensitive method for the detection of recurrent gene fusions from routine clinical SGSN tumours. It can be easily customized to cover new fusions. These results are promising for implementing an integrated NGS system to rapidly detect genetic aberrations, facilitating accurate, genomics-based diagnoses, and accelerate time to precision therapies in SGSN tumours.


Assuntos
Adenocarcinoma , Neoplasias das Glândulas Salivares , Sarcoma de Ewing , Sarcoma , Humanos , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Glândulas Salivares/patologia , Sarcoma de Ewing/diagnóstico , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/patologia , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Proteínas de Fusão Oncogênica/genética , Proteínas de Neoplasias/genética
16.
Adv Anat Pathol ; 30(2): 130-135, 2023 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-36729381

RESUMO

Salivary gland classification has benefitted immensely from the growing field of molecular diagnostics. Microsecretory adenocarcinoma, a novel salivary gland malignancy recently included in the fifth edition of the World Health Organization Classifications of Head and Neck Tumours, is one such example. This novel entity was discovered among the umbrella category of adenocarcinoma, not otherwise specified, using a combination of careful histologic analysis and advanced molecular techniques. Its strikingly characteristic histologic features including subtle infiltration, flattened tubules, and abundant blue secretions highlight the necessity of meticulous morphologic observation, even in the age of increased molecular testing. It harbors a recurrent novel MEF2C::SS18 gene fusion, which is amenable to fluorescence in situ hybridization analysis. It presents predominantly in the oral cavity with a propensity for the palate and the majority are thus far low grade, clinically indolent tumors. The recent discovery of a cutaneous corollary to this tumor suggests that the spectrum of its presentation has not entirely been delineated. In the context of expanding molecular testing, pathologists are tasked to sift through constantly evolving molecular data to incorporate diagnostically relevant tests into their practice. In salivary gland pathology, the example of microsecretory adenocarcinoma demonstrates that primary histologic assessment, with sensible use of immunohistochemistry, can lead to accurate diagnosis. Molecular testing is beneficial in cases with significant diagnostic challenges.


Assuntos
Adenocarcinoma , Neoplasias de Cabeça e Pescoço , Neoplasias das Glândulas Salivares , Humanos , Adenocarcinoma/diagnóstico , Adenocarcinoma/genética , Adenocarcinoma/patologia , Biomarcadores Tumorais/genética , Hibridização in Situ Fluorescente , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/genética , Neoplasias das Glândulas Salivares/patologia , Glândulas Salivares/patologia
17.
Cancer Control ; 30: 10732748221131652, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36592477

RESUMO

OBJECTIVE: In this article on adenoid cystic carcinoma (ACC) of salivary gland, we intend to summarize the causes of misdiagnosis and oversight of ACC hoping to improve cytological diagnostic accuracy, clinical management and patient treatment. METHODS: The study retrospectively reviewed 32 patients with ACC of salivary gland, registered at the Affiliated Hospital of Southwest Medical University from July 2014 to June 2021. These cases were diagnosed by FNA and surgical excision biopsy. All cytopathological results were retrospectively categorized according to Milan system for reporting salivary gland cytopathology (MSRSGC). The accuracy of FNA was verified by surgical excision biopsy. RESULTS: Of these 32 patients, 16 (50.0%) cases were male, and 16 (50.0%) were female. Their age ranged from 21 to 79 years, with an average age of 50.32 years. The highest incidence (15/32, 46.9%) of ACC was observed in patients between 41 and 50 years of age. 10 cases (31.3%) occurred in the parotid gland, 9 cases (28.1%) in the submandibular gland, 9 cases (28.1%) in the sublingual gland, 3 cases (9.4%) in the palate, and 1 case (3.1%) in the lip. Among the 32 cases of ACC, 23 cases (71.9%) were classified to VI, 4 cases (12.5%) to IVa, and 5 cases (15.6%) to II by MSRSGC. A comparison of the FNA results with biopsy showed that the accuracy of FNA in ACC of salivary gland is 71.9%. Being able to identify the cytomorphological features is the key factor for accurate diagnosis of ACC of the salivary gland. CONCLUSION: Our results confirm that FNA is an important initial screening in the diagnosis of ACC of salivary gland. Increased study of the cytomorphology of ACC is beneficial for more accurate diagnosis of ACC, to reduce misdiagnosis and oversight.


Assuntos
Carcinoma Adenoide Cístico , Neoplasias das Glândulas Salivares , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Adulto Jovem , Adulto , Idoso , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/epidemiologia , Neoplasias das Glândulas Salivares/patologia , Estudos Retrospectivos , Biópsia por Agulha Fina/métodos , Glândulas Salivares/cirurgia , Glândulas Salivares/patologia , Erros de Diagnóstico
18.
Radiographics ; 43(9): e230045, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37561643

RESUMO

Tracheobronchial neoplasms are much less common than lung parenchymal neoplasms but can be associated with significant morbidity and mortality. They include a broad differential of both malignant and benign entities, extending far beyond more commonly known pathologic conditions such as squamous cell carcinoma and carcinoid tumor. Airway lesions may be incidental findings at imaging or manifest with symptoms related to airway narrowing or mucosal irritation, invasion of adjacent structures, or distant metastatic disease. While there is considerable overlap in clinical manifestation, imaging features, and bronchoscopic appearances, an awareness of potential distinguishing factors may help narrow the differential diagnosis. The authors review the epidemiology, imaging characteristics, typical anatomic distributions, bronchoscopic appearances, and histopathologic findings of a wide range of neoplastic entities involving the tracheobronchial tree. Malignant neoplasms discussed include squamous cell carcinoma, malignant salivary gland tumors (adenoid cystic carcinoma and mucoepidermoid carcinoma), carcinoid tumor, sarcomas, primary tracheobronchial lymphoma, and inflammatory myofibroblastic tumor. Benign neoplasms discussed include hamartoma, chondroma, lipoma, papilloma, amyloidoma, leiomyoma, neurogenic lesions, and benign salivary gland tumors (pleomorphic adenoma and mucous gland adenoma). Familiarity with the range of potential entities and any distinguishing features should prove valuable to thoracic radiologists, pulmonologists, and cardiothoracic surgeons when encountering the myriad of tracheobronchial neoplasms in clinical practice. Attention is paid to any features that may help render a more specific diagnosis before pathologic confirmation. ©RSNA, 2023 Quiz questions for this article are available in the supplemental material.


Assuntos
Neoplasias Encefálicas , Tumor Carcinoide , Carcinoma Adenoide Cístico , Carcinoma Mucoepidermoide , Carcinoma de Células Escamosas , Neoplasias Pulmonares , Neoplasias das Glândulas Salivares , Humanos , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/patologia , Carcinoma Mucoepidermoide/diagnóstico , Carcinoma Mucoepidermoide/patologia , Tumor Carcinoide/diagnóstico por imagem
19.
Semin Diagn Pathol ; 40(5): 340-348, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37085434

RESUMO

Salivary gland neoplasms are rare and represent a diverse group of head and neck tumors. Their diagnosis in limited cellularity specimens can be challenging as many of these have overlapping clinical, radiological presentation, and pathologic features. Fine needle aspiration and/or core biopsies are more of a norm than rarity to be performed preoperatively to provide invaluable information that can guide clinical management including surgery. Even though these limited specimens may not always provide a definitive diagnosis; they have high sensitivity in confirming primary neoplasia, assessing the tumor grade, and ruling out non-surgical disease. An algorithmic pattern based approach can help narrow the differential diagnosis; leading to a definitive diagnosis with the help of specific ancillary studies.


Assuntos
Neoplasias das Glândulas Salivares , Humanos , Biópsia por Agulha Fina , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Biópsia com Agulha de Grande Calibre , Diagnóstico Diferencial
20.
Cytopathology ; 34(3): 225-231, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36775661

RESUMO

INTRODUCTION: Salivary gland neoplasms account for approximately 5% of head and neck tumours. The cytomorphology of fine needle aspiration material helps determine the preoperative assessment and risk stratification. The Milan System for Reporting Salivary Gland Cytopathology (MSRSGC) was developed to improve communication between the laboratory and treatment provider. AIMS AND OBJECTIVE: In the present study, we stratified all salivary gland lesions according to the MSRSGC and evaluated each category's concordance and risk of malignancy (ROM). MATERIALS AND METHODS: This was a 5 year retrospective study. First, all cases were assigned to one of the six MSRSGC categories. Then, following cytohistological correlation, the concordance rates and ROM were calculated based on the final histopathology report. RESULTS: A total of 354 cases were identified, with ages ranging from 2 to 88 years and the commonest age group was the 3rd to 4th decades. Categories I, II, III, IVA, IVB, V, and VI comprised 5.37% (19/354), 26.84% (95/354), 1.13% (04/354), 51.41% (182/354), 1.98% (07/354), 1.13% (04/354), and 12.15% (43/354) of the cases, respectively. The overall concordance rate between the cytological and histopathological diagnoses was 81.25% (65 out of 80 cases), with the sensitivity, specificity, positive predictive value, and negative predictive value at 43.48%, 96.49%, 83.33%, and 80.88%, respectively. CONCLUSION: The MSRSGC provides a better objective and structured way to communicate with the health care provider. In our study, the overall concordance rate was observed in 62/80 cases, with maximum concordance seen in categories III, IVB, and V of the MSRSGC.


Assuntos
Neoplasias das Glândulas Salivares , Glândulas Salivares , Humanos , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Estudos Retrospectivos , Centros de Atenção Terciária , Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Medição de Risco
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