RESUMO
BACKGROUND: Adenoid cystic carcinoma is a rare subtype of triple-negative breast carcinoma. These low-grade tumours, which are treated by simple mastectomy and have an excellent prognosis compared to other triple-negative breast carcinomas. Solid-variant adenoid cystic carcinomas have basaloid features and are difficult to distinguish morphologically from other triple-negative breast cancers. Breast adenoid cystic carcinoma exhibits MYB protein overexpression, which can be detected by immunohistochemistry (IHC). AIM: We compared the IHC expression of MYB in solid-variant adenoid cystic carcinoma with that in other triple-negative breast cancers. METHODS: We conducted IHC staining of 210 samples of triple-negative breast cancers, including solid-variant adenoid cystic carcinoma (n = 17), metaplastic breast carcinoma (n = 44), basaloid triple-negative breast cancer (n = 21), and other triple-negative invasive ductal carcinoma (n = 128). We classified nuclear staining of MYB as diffuse/strong (3+), focal moderate (2+), focal weak (1+), or none (0). RESULTS: All 17 solid/basaloid adenoid cystic carcinoma cases exhibited 3+ MYB expression. Of the 21 solid/basaloid triple-negative breast cancers, one (5%) had 2+ expression, seven (33%) 1+ expression, and 13 (62%) 0 expression. Of the 44 metaplastic carcinoma cases, 39 cases (89%) had no (0) staining, and the other five cases had focal weak (1+) or moderate (2+) staining. Among the 128 triple-negative invasive ductal carcinoma cases, 92 cases (72%) had no (0) staining, 36 cases (28%) exhibited focal weak (1+) or moderate (2+) staining. CONCLUSIONS: Our study revealed diffuse/strong MYB staining (3+) only in solid/basaloid adenoid cystic carcinomas. Thus, we recommend routine MYB IHC staining in triple-negative breast carcinoma with solid/basaloid morphology to improve diagnostic accuracy.
Assuntos
Biomarcadores Tumorais , Carcinoma Adenoide Cístico , Imuno-Histoquímica , Proteínas Proto-Oncogênicas c-myb , Neoplasias de Mama Triplo Negativas , Humanos , Carcinoma Adenoide Cístico/metabolismo , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/patologia , Neoplasias de Mama Triplo Negativas/patologia , Neoplasias de Mama Triplo Negativas/metabolismo , Neoplasias de Mama Triplo Negativas/diagnóstico , Feminino , Proteínas Proto-Oncogênicas c-myb/metabolismo , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/metabolismo , Pessoa de Meia-Idade , Idoso , Adulto , Sensibilidade e Especificidade , Idoso de 80 Anos ou maisRESUMO
PURPOSE: Maxillary sinus carcinomas usually present as a locally advanced disease at the time of diagnosis and it is extremely unusual to have a second primary maxillary carcinoma on the contralateral side after many years of completion of treatment of the first malignancy. We present here a case report of a sphenopalatine artery (SPA) pseudoaneurysm mimicking the second primary maxillary carcinoma. METHODS: We reviewed the literature for SPA pseudoaneurysm. RESULTS/CASE REPORT: This report describes the case of a 90-year-old man with a background of adenoid cystic carcinoma of the right maxillary sinus, diagnosed and treated with surgery and radiotherapy 14 years ago, who presented with a history of multiple episodes of epistaxis. The radiological evaluation showed a heterogeneously enhancing mass with a central hemorrhagic component and surrounding bony erosions in the left maxillary sinus and the patient was planned for biopsy from the suspicious mass along with SPA ligation. However, on opening the maxillary antrum there was excessive bleeding and it was determined unsafe to proceed further. The patient was subsequently taken to interventional radiology for diagnostic angiography which revealed an SPA pseudoaneurysm that was subsequently embolized successfully. CONCLUSIONS: Sphenopalatine artery pseudoaneurysms should be considered as a differential for recurrent epistaxis in patients with a history of sinonasal malignancy. In such cases, endovascular embolization is a viable management option.
Assuntos
Falso Aneurisma , Humanos , Masculino , Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/diagnóstico , Falso Aneurisma/terapia , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Segunda Neoplasia Primária/diagnóstico , Segunda Neoplasia Primária/diagnóstico por imagem , Segunda Neoplasia Primária/patologia , Neoplasias do Seio Maxilar/diagnóstico , Neoplasias do Seio Maxilar/diagnóstico por imagem , Neoplasias do Seio Maxilar/patologia , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/diagnóstico por imagem , Epistaxe/etiologia , Artéria Maxilar/diagnóstico por imagemRESUMO
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/diagnósticoRESUMO
PURPOSE: Lacrimal gland (LG) adenocarcinomas (ACs) are rare, with limited data. We compared clinicopathologic features and local recurrence, distant metastasis, and survival rates between LG AC and LG adenoid cystic carcinoma (ACC). METHODS: The records of LG AC patients treated from 2008 to 2022 and LG ACC patients treated from 1998 to 2022 at the same center were retrospectively reviewed. RESULTS: The study included 20 patients with AC; 10 de-novo AC, 10 ex-pleomorphic AC; and 51 ACC patients. The median age at diagnosis was 61 years for de-novo AC, 54 years for ex-pleomorphic AC, and 45 years for ACC. All groups had male predominance. The initial T category was T2 in 50% (5/10) of de-novo ACs; 60% (6/10) of ex-pleomorphic ACs; and 59% (30/51) of ACCs. Perineural invasion was present in 33% (5/15) of ACs and 90% (45/50) of ACCs ( p < 0.001). Of the 20 AC patients, 14 had eye-sparing surgery; 4 had orbital exenteration; and 2 had unresectable disease. All AC patients received postoperative radiotherapy and 15 (75%) received concurrent chemotherapy. Fourteen AC patients were tested for human growth factor receptor 2 expression, and 10 (71%) were human growth factor receptor 2 positive; 5 received human growth factor receptor 2-targeted therapy. AC and ACC had similar 5-year recurrence rates (20% and 33%, respectively, p = 0.31) and metastasis rates (20% and 34%, respectively, p = 0.30). de-novo AC, ex-pleomorphic AC, and ACC had similar 5-year disease-specific survival rates (80%, 79%, and 81%, respectively, p > 0.99). CONCLUSIONS: LG AC and ACC have similar baseline clinicopathologic features, except that perineural invasion is more common in ACC, and similar recurrence, metastasis, and survival rates. Human growth factor receptor 2-targeted therapy may be appropriate in some patients with LG AC.
Assuntos
Adenocarcinoma , Carcinoma Adenoide Cístico , Neoplasias Oculares , Doenças do Aparelho Lacrimal , Humanos , Masculino , Carcinoma Adenoide Cístico/terapia , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/patologia , Pessoa de Meia-Idade , Feminino , Estudos Retrospectivos , Doenças do Aparelho Lacrimal/terapia , Doenças do Aparelho Lacrimal/diagnóstico , Doenças do Aparelho Lacrimal/patologia , Neoplasias Oculares/terapia , Neoplasias Oculares/patologia , Neoplasias Oculares/diagnóstico , Idoso , Adulto , Adenocarcinoma/terapia , Adenocarcinoma/patologia , Recidiva Local de Neoplasia , Taxa de Sobrevida , Idoso de 80 Anos ou mais , Aparelho Lacrimal/patologiaRESUMO
Malignant primary tracheal tumours are rare. The most common histological subtypes are squamous cell carcinoma and adenoid cystic carcinoma. These two entities have different prognoses and growth patterns. Tracheobronchoscopy and thoracic sectional imaging are standard diagnostic tools for tumour staging and local evaluation. Complete surgical resection of the affected tracheal segment is the treatment of choice for limited disease without distant metastases. Incomplete gross tumour resection with additional irradiation is an acceptable therapeutic option for adenoid cystic carcinoma. Interventional endoscopy with tumour debulking or tracheal stenting and/or definitive mediastinal radiotherapy are treatment alternatives in either a locally advanced or palliative setting.
Assuntos
Broncoscopia , Carcinoma Adenoide Cístico , Carcinoma de Células Escamosas , Estadiamento de Neoplasias , Traqueia , Neoplasias da Traqueia , Neoplasias da Traqueia/cirurgia , Neoplasias da Traqueia/patologia , Neoplasias da Traqueia/diagnóstico , Neoplasias da Traqueia/terapia , Neoplasias da Traqueia/diagnóstico por imagem , Humanos , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/cirurgia , Carcinoma Adenoide Cístico/diagnóstico por imagem , Carcinoma Adenoide Cístico/terapia , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/cirurgia , Carcinoma de Células Escamosas/diagnóstico , Carcinoma de Células Escamosas/terapia , Carcinoma de Células Escamosas/diagnóstico por imagem , Traqueia/cirurgia , Traqueia/patologia , Traqueia/diagnóstico por imagem , Prognóstico , Terapia Combinada , Tomografia Computadorizada por Raios X , Stents , Cuidados PaliativosRESUMO
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 â -â ¡, grade â ¢ 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 â ¢ 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/genéticaRESUMO
A 41-year-old male presented to the Department of Pulmonary Medicine, with shortness of breath for 1 year. Though on treatment for bronchial asthma, he was not responding. The chest radiograph was normal (Fig. 1). On spirometric examination, the flow-volume curve showed flattening of the expiratory limb, suggesting variable intrathoracic obstruction. Fiber-optic bronchoscopy was, hence, done and it revealed a growth in the trachea (Fig. 2). Biopsy was deferred due to the risk of bleeding. Computed tomography (CT) of the chest also showed tracheal growth (Fig. 3). The patient was planned for rigid bronchoscopy. Meanwhile, the patient presented with expectoration of a piece of that growth. Histopathological examination revealed an adenoid cystic carcinoma (Fig. 4).
Assuntos
Asma , Broncoscopia , Carcinoma Adenoide Cístico , Humanos , Masculino , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/diagnóstico por imagem , Adulto , Asma/diagnóstico , Diagnóstico Diferencial , Broncoscopia/métodos , Tomografia Computadorizada por Raios X , Neoplasias da Traqueia/diagnóstico , Neoplasias da Traqueia/diagnóstico por imagemRESUMO
Subglottic masses is very rare. The clinical data of five cases of subglottic mass in our hospital from 2017 to 2022 were summarized, and their clinical manifestations, auxiliary examination findings, treatment plan and pathological features were analyzed. Among the 5 patients, 1 case was subglottic pleomorphic adenoma, 1 case was subglottic granuloma, 1 case was subglottic breast cancer metastasis, 1 case was subglottic primary adenoid cystic carcinoma, and 1 case was immunoglobulin G4-related disease. No recurrence was observed in the patients so far. Subglottic mass is easy to be missed. Therefore, when the lesion is suspected in this area, the examination of ear, nose and throat should be carried out systematically to detect the lesion early and improve the prognosis.
Assuntos
Adenoma Pleomorfo , Carcinoma Adenoide Cístico , Doença Relacionada a Imunoglobulina G4 , Neoplasias Laríngeas , Humanos , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/terapia , Neoplasias Laríngeas/diagnóstico , Neoplasias Laríngeas/terapia , PescoçoRESUMO
Adenoid cystic carcinoma (AdCC) is a rare cancer originating from secretory glands with unknown aetiology. It is one of the most dominant malignant salivary tumours (MST). However, it can arise in other areas of the head and neck region and in secretory glands outside this area. It occurs at all ages, but is more frequent between 50-70 years of age and more common in females than in males. The symptoms of AdCC are generally unspecific and the clinical diagnosis of AdCC maybe challenging, partially due to its heterogenous histopathology and indolent growth. Moreover, there is a lack of good prognostic markers, and due to its rarity, it is difficult to predict which therapeutic methods are the most optimal for each patient, especially since very late recurrences occur. This review presents some major characteristics of AdCC and some current treatments for this disease.
Assuntos
Carcinoma Adenoide Cístico , Neoplasias das Glândulas Salivares , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/terapia , Carcinoma Adenoide Cístico/patologia , Pescoço/patologia , Cabeça/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Neoplasias das Glândulas Salivares/terapia , Neoplasias das Glândulas Salivares/patologiaRESUMO
BACKGROUND: Salivary gland tumors (SGTs) are rare and highly heterogeneous lesions, making diagnosis a challenging activity. In addition, the small number of studies and samples evaluated difficults the determination of prognosis and diagnosis. Despite the solid advances achieved by research, there is still an intense need to investigate biomarkers for diagnosis, prognosis and that explain the evolution and progression of SGTs. METHODS: We performed a comprehensive literature review of the molecular alterations focusing on the most frequent malignant SGTs: mucoepidermoid carcinoma and adenoid cystic carcinoma. RESULTS: Due to the importance of biomarkers in the tumorigenenic process, this review aimed to address the mechanisms involved and to describe molecular and biomarker pathways to better understand some aspects of the pathophysiology of salivary gland tumorigenesis. CONCLUSIONS: Molecular analysis is essential not only to improve the diagnosis and prognosis of the tumors but also to identify novel driver pathways in the precision medicine scenario.
Assuntos
Biomarcadores Tumorais , Carcinoma Adenoide Cístico , Carcinoma Mucoepidermoide , Neoplasias das Glândulas Salivares , Carcinoma Mucoepidermoide/patologia , Carcinoma Mucoepidermoide/diagnóstico , Humanos , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/diagnóstico , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Biomarcadores Tumorais/análiseRESUMO
BACKGROUND: MYB RNA in situ hybridization (ISH) has emerged as a reliable and accessible marker to support adenoid cystic carcinoma (ACC) diagnosis, though still not well studied. Here, we report our results in a validation and prospective cohort to improve MYB RNA ISH diagnostic accuracy. METHODS: 79 cases (23 retrospective and 56 prospective) underwent MYB RNA ISH testing (44 ACC and 35 non-ACC). MYB RNA ISH results were initially interpreted based on previously established (original) scoring criteria. Weighted "i-scores", percent positive tumor cells, percent tumor cells with large signals (% LS), and staining pattern (abluminal, diffuse, focal non-patterned, or negative) were inputs for logistic regression models. Final model performance characteristics were compared with original scoring criteria and MYB::NFIB FISH results. RESULTS: An abluminal pattern was characteristic and exclusive to ACC. All i-scores, % LS, and percent positive were significantly higher in ACC. Original scoring criteria yielded a 95.5% sensitivity (Sn), 68.6% specificity (Sp), and 83.5% accuracy. MYB::NFIB FISH yielded a 42.9% sensitivity, 100% specificity, and 60% accuracy. Optimizing for performance, simplicity, and minimal collinearity, our final model was defined as: abluminal pattern and/or % LS > 16.5%, which resulted in a 93.2% Sn, 97.1% Sp, and 94.9% accuracy for ACC diagnosis. False negatives included an ACC with striking tubular eosinophilia and a MYBL1::NFIB translocated ACC. One false positive exclusive to the final model was a nasopharyngeal carcinoma with MYB amplification. CONCLUSIONS: MYB RNA ISH has a higher Sn than MYB::NFIB FISH while retaining high Sp. Our model provides improvements to specificity compared to original scoring criteria and highlight the importance of abluminal staining pattern and % LS. Nonetheless, alternate fusions remain key false negatives while rare non-ACC with other mechanisms of MYB activation may present as false positives.
Assuntos
Biomarcadores Tumorais , Carcinoma Adenoide Cístico , Proteínas Proto-Oncogênicas c-myb , Sensibilidade e Especificidade , Humanos , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/genética , Carcinoma Adenoide Cístico/patologia , Proteínas Proto-Oncogênicas c-myb/genética , Feminino , Pessoa de Meia-Idade , Masculino , Idoso , Adulto , Biomarcadores Tumorais/análise , Biomarcadores Tumorais/genética , Estudos Retrospectivos , Hibridização In Situ/métodos , Estudos Prospectivos , Idoso de 80 Anos ou mais , Hibridização in Situ Fluorescente/métodos , Adulto JovemRESUMO
Breast cancers of either ductal or lobular pathology make up the vast majority of breast malignancies. Other cancers occur rarely in the breast. Benign pathology can at times mimic breast cancers on imaging and initial needle biopsies. We report a rare breast pathology of cylindroma. Cylindromas are usually benign, rare dermatologic lesions most commonly associated with head or neck locations. They more commonly occur as sporadic and solitary masses. Less commonly is an autosomal-dominant multi-centric form of this disease. Malignant cylindromas are very rare. We present a patient with findings of a cylindroma of the breast after excision. This was initially felt to be concerning for breast cancer on imaging and core biopsy. Treatment of cylindromas of the breast is excision. Sentinel lymph node dissection is not indicated, nor are adjuvant therapies when identified in the breast. This lesion needs to be included in the differential diagnosis for breast cancer. If cylindromas can be accurately diagnosed preoperatively, this would negate the need for consideration of axillary nodal surgery and adjuvant therapies.
Assuntos
Neoplasias da Mama , Carcinoma Adenoide Cístico , Humanos , Feminino , Neoplasias da Mama/patologia , Neoplasias da Mama/diagnóstico , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/cirurgia , Carcinoma Adenoide Cístico/diagnóstico , Diagnóstico Diferencial , Biópsia com Agulha de Grande Calibre , Mama/patologia , Pessoa de Meia-Idade , MamografiaRESUMO
INTRODUCTION: Adenoid cystic carcinoma of minor salivary glands (AdCCmSG) represents a 'rarity in the rarity,' posing a clinical challenge in lack of standardized, evidence-based recommendations. At present, AdCCmSG management is mostly translated from major salivary gland cancers (MSGCs). Ideally, AdCCmSG diagnostic-therapeutic workup should be discussed and carried out within a multidisciplinary, high-expertise setting, including pathologists, surgeons, radiation oncologists and medical oncologists. AREAS COVERED: The present review provides an overview of epidemiology and pathologic classification. Moreover, the most recent, clinically relevant updates in the treatment of AdCCmSG (Pubmed searches, specific guidelines) are critically discussed, aiming to a better understanding of this rare pathologic entity, potentially optimizing the care process, and offering a starting point for reflection on future therapeutic developments. EXPERT OPINION: The management of rare cancers is often hindered by limited data and clinical trials, lack of evidence-based guidelines, and hardly represented disease heterogeneity, which cannot be successfully tackled with a 'one-size-fits-all' approach. Our goal is to address these potential pitfalls, providing an easy-to-use, updated, multidisciplinary collection of expert opinions concerning AdCCmSG management as of today's clinical practice. We will also cover the most promising future perspectives, based on the potential therapeutic targets highlighted within AdCCmSG's molecular background.
Assuntos
Carcinoma Adenoide Cístico , Neoplasias das Glândulas Salivares , Glândulas Salivares Menores , Humanos , Carcinoma Adenoide Cístico/terapia , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/diagnóstico , Neoplasias das Glândulas Salivares/terapia , Neoplasias das Glândulas Salivares/patologia , Neoplasias das Glândulas Salivares/diagnóstico , Glândulas Salivares Menores/patologia , Equipe de Assistência ao Paciente/organização & administração , Guias de Prática Clínica como AssuntoRESUMO
RATIONALE: Adenoid cystic carcinoma (AdCC) is a rare malignancy of the breast with a low Ki-67 index and good prognosis. Owing to the rarity of breast AdCC, the misdiagnosis rate is as high as 50%, and there is no consensus or recognized guidelines for the treatment of this disease. Therefore, it is necessary to conduct a detailed clinical and pathological analysis in combination with a literature review to improve our understanding, diagnosis, and treatment of the disease. METHODS: A 68-year-old woman sought medical attention due to a recently increasing mass in the breast. The left breast mass was 1.3 cmâ ×â 1 cm in size. We analyzed the morphology, immunohistochemistry, and molecular characteristics of the tumor removed by surgery, and reviewed relevant literature. DIAGNOSES: Solid basal AdCC of the breast. INTERVENTIONS: We performed biopsy, immunohistochemistry and molecular testing on surgical resection specimens. OUTCOMES: Combining morphological and immunohistochemical features, it is consistent with solid basal AdCC of the breast, and Fish detected MYB gene break. LESSONS: Due to the high misdiagnosis rate of AdCC, accurate histopathological diagnosis is particularly important. At present, breast conserving surgery and local tumor resection are mainly used for the treatment of breast AdCC, and postoperative adjuvant radiotherapy is feasible.
Assuntos
Neoplasias da Mama , Carcinoma Adenoide Cístico , Feminino , Humanos , Idoso , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/cirurgia , Carcinoma Adenoide Cístico/genética , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/cirurgia , Neoplasias da Mama/patologia , Imuno-Histoquímica , Mastectomia Segmentar , BiópsiaRESUMO
Collagenous spherulosis (CS) is a rare breast lesion of unknown histogenesis. Adenoid cystic carcinoma (ACC) is a rare basal-like breast carcinoma with low histological grade. CS is a benign lesion but resembles ACC. Both lesions show a similar histomorphology and feature bilineage differentiation. This study compared immunohistochemical markers in CS and ACC. We compiled n = 13 CS cases and n = 18 mammary ACCs. Fourteen marker proteins (ER, PR, HER2, GATA3, CK7, E-cadherin, CD117, CK5/14, p40, p63, SMA, CD10, calponin, P-cadherin) were evaluated by immunohistochemistry (IHC). MYB rearrangement, a common alteration in ACC, was assessed by fluorescence in situ hybridization. Patient age ranged between 40-60 years for CS lesions and 30-90 years for ACCs. 7/13 (54%) CS cases harbored a lobular carcinoma in situ (LCIS) in the luminal component. One CS/LCIS lesion occurred in a carrier of a pathogenic germline variant in CDH1/E-cadherin. MYB rearrangement was detected in 0/11 (0%) CS and 6/16 (37%) ACC cases (P = 0.054). CS was associated with expression of ER in the luminal component (P < 0.001), E-cadherin loss in the luminal component (P = 0.045), and expression of CD10 and calponin in the basal component (P < 0.001). Furthermore, CS was associated with GATA3 expression in the luminal component (12/13 [92%] versus 5/18 [27%], P < 0.001). In summary, IHC for GATA3 and E-cadherin may contribute to the differential diagnosis between CS and ACC, although these markers are not exclusively expressed in either lesion. Histologic evaluation has to take into account that CS is frequently colonized by LCIS, requiring thorough correlation of histomorphology and immunohistochemical features.
Assuntos
Biomarcadores Tumorais , Neoplasias da Mama , Carcinoma Adenoide Cístico , Imuno-Histoquímica , Humanos , Feminino , Pessoa de Meia-Idade , Biomarcadores Tumorais/análise , Carcinoma Adenoide Cístico/patologia , Carcinoma Adenoide Cístico/diagnóstico , Carcinoma Adenoide Cístico/metabolismo , Adulto , Idoso , Neoplasias da Mama/patologia , Diagnóstico Diferencial , Idoso de 80 Anos ou mais , Proteínas Proto-Oncogênicas c-myb , Hibridização in Situ Fluorescente , Valor Preditivo dos Testes , Caderinas/análise , Caderinas/metabolismoRESUMO
BACKGROUND: Primary tracheal carcinoma is an exceptionally rare and life-threatening disease that presents significant diagnostic and therapeutic challenges. Delayed diagnosis due to misinterpretation of airway obstruction symptoms often leads to poorer prognoses for patients. This study aimed to explore the clinical manifestations and multidisciplinary treatment approaches for primary tracheal carcinoma in Bangladesh, with a focus on recent advancements in diagnosis and treatment. METHODS: A retrospective observational study was conducted at Bangladesh Specialized Hospital Limited, involving patients aged over 30 who were diagnosed with tracheal carcinoma and underwent multidisiplinary treatment from July 2018 to June 2019. Data were collected through patient interviews and medical record reviews. Descriptive and inferential statistical analyses were performed to examine demographic characteristics, histological variations, tumor locations, clinical signs and symptoms, treatment approaches, and outcomes. RESULTS: The study illuminated varied clinical presentations and the successful application of multidisciplinary approaches among the 13 patients. Invasive squamous cell carcinoma and adenoid cystic carcinoma were the predominant histological subtypes. Symptomatology, including dyspnea, cough, and hemoptysis, highlighted the challenge of early detection. Despite the rarity and intricacies associated with primary tracheal carcinoma, the multidisciplinary strategy yielded generally positive outcomes, as evidenced by a 1-year survival rate of 92.31% and a 5-year survival rate of 76.92%. Kaplan-Meier survival curves underscored the superior efficacy of surgical interventions over non-surgical approaches. CONCLUSION: Despite some limitations, this study contributes crucial insights into the nuanced management of primary tracheal carcinoma in the Bangladeshi context. The demonstrated success of the multidisciplinary strategy, especially surgical interventions, accentuates the importance of definitive resection. The lone case of local recurrence emphasizes the necessity for vigilant follow-up.