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1.
Pathol Res Pract ; 256: 155273, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38565023

RESUMO

Mucinous adenocarcinoma of the urethra is rare. Here we performed a contemporary clinicopathologic analysis of this entity in both male and female patients. All cases with secondary tumors involving the urethra were excluded. Clinicopathologic parameters and follow up was obtained. Seventeen patients were included in the study, 9/17 (53 %) male and 8/17 (47 %) female. The mean patient age was 68 years (range: 53-88 years). The majority (11/17, 65 %) of patients were African American, with an even greater incidence (7/8, 87 %) in female patients. In male patients, prostatic urethra was the most common part of the urethra (6/9, 67 %) where the tumor arose from. Immunohistochemical stains were performed in 11/17 (65 %) tumors and were positive for CK20 (11/11, 100 %), CDX2 (11/12, 92 %), CK7 (8/9, 88 %), GATA3 (3/8, 37 %) and negative for NKX3.1, PSA, p63, PAX8, and Beta-Catenin. In resection specimens, tumors were categorized as pT2 (3/11, 27 %), pT3 (1/11, 9 %), and pT4 (7/11, 64 %). Lymph node status was categorized as pN0 (6/9, 67 %), pN1 (1/9, 11 %), and pN2 (2/9, 22 %). Available follow up data showed 7/13 (54 %) patients developed recurrence after surgical resection and chemotherapy, of which 3/7 (43 %) died of widespread metastatic disease. It is critical for pathologists and urologic oncologists to be aware of this entity in both male and female patients in view of potential diagnostic pitfalls, prognosis, and therapeutic implications.


Assuntos
Adenocarcinoma Mucinoso , Uretra , Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Uretra/química , Uretra/patologia , Adenocarcinoma Mucinoso/patologia , Fatores de Transcrição , Prognóstico , Próstata/patologia , Biomarcadores Tumorais/análise
2.
Medicine (Baltimore) ; 103(14): e37693, 2024 Apr 05.
Artigo em Inglês | MEDLINE | ID: mdl-38579072

RESUMO

The selection of appropriate treatment modalities based on the presence or absence of mutations in KRAS, NRAS, BRAF, and the microsatellite instability (MSI) status has become a crucial consensus in colorectal cancer (CRC) therapy. However, the distribution pattern of these genetic mutations and the prevalence of MSI status in Chinese stage I-III CRCs remain unclear. We retrospectively analyzed clinicopathological features, mutations in the KRAS, NRAS, and BRAF genes, as well as MSI status of 411 patients with stage I-III CRC who underwent surgery from June 2020 to December 2022 in the First Affiliated Hospital of Nanjing Medical University. The mutation rates of KRAS, NRAS, and BRAF were 48.9%, 2.2%, and 3.2%, respectively, and the microsatellite instability-high rate was 9.5%. KRAS mutation was independently associated with mucinous adenocarcinoma. Multivariate analysis suggested that tumor location and mucinous adenocarcinoma were independently associated with BRAF mutation. Only T stage was associated with NRAS mutations in the univariate analysis. Multivariate analysis revealed that factors such as larger tumor size, tumor location, younger age, and poor differentiation were independently associated with microsatellite instability-high status. The results illustrate the mutation frequencies of KRAS, NRAS, BRAF genes and MSI status in stage I-III CRC from the eastern region of China. These findings further validate the associations between these genes status and various clinicopathological characteristics.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias Colorretais , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Instabilidade de Microssatélites , Proteínas Proto-Oncogênicas p21(ras)/genética , Estudos Retrospectivos , Neoplasias Colorretais/epidemiologia , Neoplasias Colorretais/genética , Neoplasias Colorretais/patologia , Mutação , Proteínas de Membrana/genética , GTP Fosfo-Hidrolases/genética
3.
Pan Afr Med J ; 47: 14, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38524106

RESUMO

Mucin-producing adenocarcinomas (MAC) are an extremely rare, indistinct group of neoplasm having either a salivary gland origin or with prominent glandular component. The diagnosis is chiefly based on the histological aspect conjoined with immunohistochemical evaluation as clinico-radiographical features are non-specific. It can arise as a primary metastasis to soft tissues, most commonly from either lung, breast, kidney, or colon. This paper reports a 51-year-old woman with buccolingual gingival swelling having a final diagnosis of metastatic mucinous adenocarcinoma from the breast. A tissue biopsy was performed followed by immunohistochemistry that confirmed the diagnosis. They are extremely rare, making the diagnosis challenging as it may mimic a benign neoplasm. It accounts for approximately 1% of all oral malignant neoplasms having gingival propensity. The clinician should therefore take into account every diagnostic aspect while encountering such oral lesions to achieve proper patient welfare.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias Gengivais , Granuloma Piogênico , Neoplasias Bucais , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Gengivais/diagnóstico , Neoplasias Gengivais/patologia , Neoplasias Gengivais/secundário , Gengiva/patologia , Granuloma Piogênico/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico , Adenocarcinoma Mucinoso/patologia
4.
Nat Commun ; 15(1): 2764, 2024 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-38553466

RESUMO

The existing Intraductal Papillary Mucinous Neoplasm (IPMN) risk stratification relies on clinical and histological factors, resulting in inaccuracies and leading to suboptimal treatment. This is due to the lack of appropriate molecular markers that can guide patients toward the best therapeutic options. Here, we assess and confirm subtype-specific markers for IPMN across two independent cohorts of patients using two Spatial Transcriptomics (ST) technologies. Specifically, we identify HOXB3 and ZNF117 as markers for Low-Grade Dysplasia, SPDEF and gastric neck cell markers in borderline cases, and NKX6-2 and gastric isthmus cell markers in High-Grade-Dysplasia Gastric IPMN, highlighting the role of TNFα and MYC activation in IPMN progression and the role of NKX6-2 in the specific Gastric IPMN progression. In conclusion, our work provides a step forward in understanding the gene expression landscapes of IPMN and the critical transcriptional networks related to PDAC progression.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Humanos , Carcinoma Ductal Pancreático/genética , Carcinoma Ductal Pancreático/patologia , Neoplasias Intraductais Pancreáticas/genética , Adenocarcinoma Mucinoso/genética , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Hiperplasia , Proteínas de Homeodomínio/genética
5.
J Ovarian Res ; 17(1): 59, 2024 Mar 13.
Artigo em Inglês | MEDLINE | ID: mdl-38481236

RESUMO

OBJECTIVE: To investigate the clinical and magnetic resonance imaging (MRI) features for preoperatively discriminating  primary ovarian mucinous malignant tumors (POMTs) and metastatic mucinous carcinomas involving the ovary (MOMCs). METHODS: This retrospective multicenter study enrolled 61 patients with 22 POMTs and 49 MOMCs, which were pathologically proved between November 2014 to Jane 2023. The clinical and MRI features were evaluated and compared between POMTs and MOMCs. Univariate and multivariate analyses were performed to identify the significant variables between the two groups, which were then incorporated into a predictive nomogram, and ROC curve analysis was subsequently carried out to evaluate diagnostic performance. RESULTS: 35.9% patients with MOMCs were discovered synchronously with the primary carcinomas; 25.6% patients with MOMCs were bilateral, and all of the patients with POMTs were unilateral. The biomarker CEA was significantly different between the two groups (p = 0.002). There were significant differences in the following MRI features: tumor size, configuration, enhanced pattern, the number of cysts, honeycomb sign, stained-glass appearance, ascites, size diversity ratio, signal diversity ratio. The locular size diversity ratio (p = 0.005, OR = 1.31), and signal intensity diversity ratio (p = 0.10, OR = 4.01) were independent predictors for MOMCs. The combination of above independent criteria yielded the largest area under curve of 0.922 with a sensitivity of 82.3% and specificity of 88.9%. CONCLUSIONS: Patients with MOMCs were more commonly bilaterally and having higher levels of CEA, but did not always had a malignant tumor history. For ovarian mucin-producing tumors, the uniform locular sizes and signal intensities were more predict MOMCs.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias Ovarianas , Feminino , Humanos , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/cirurgia , Carcinoma Epitelial do Ovário/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico por imagem , Adenocarcinoma Mucinoso/cirurgia , Mucinas , Diagnóstico Diferencial
7.
Cell Biochem Funct ; 42(2): e3989, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38500386

RESUMO

Colorectal mucinous adenocarcinoma (MAC) is one of the most lethal histological types of colorectal cancer, and its mechanism of development is not well understood. In this study, we aimed to clarify the molecular characteristics of MAC via in silico analysis using The Cancer Genome Atlas database. The expression of genes on chromosome 20q (Chr20q) was negatively associated with the expression of MUC2, which is a key molecule that can be used to distinguish between MAC and nonmucinous adenocarcinoma (NMAC). This was consistent with a significant difference in copy number alteration of Chr20q between the two histological types. We further identified 475 differentially expressed genes (DEGs) between MAC and NMAC, and some of the Chr20q genes among the DEGs are considered to be pivotal genes used to define MAC. Both in vitro and in vivo analysis showed that simultaneous knockdown of POFUT1 and PLAGL2, both of which are located on Chr20q, promoted MUC2 expression. Moreover, these genes were highly expressed in NMAC but not in MAC according to the results of immunohistological studies using human samples. In conclusion, POFUT1 and PLAGL2 are considered to be important for defining MAC, and these genes are associated with MUC2 expression.


Assuntos
Adenocarcinoma Mucinoso , Adenocarcinoma , Neoplasias Colorretais , Humanos , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/metabolismo , Adenocarcinoma Mucinoso/patologia , Neoplasias Colorretais/metabolismo , Proteínas de Ligação a DNA/metabolismo , Mucina-2/genética , Mucina-2/metabolismo , Proteínas de Ligação a RNA/genética , Fatores de Transcrição/genética
8.
Clin Respir J ; 18(3): e13743, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38529681

RESUMO

BACKGROUND: This study aimed to investigate the radiological, pathological, and prognostic characteristics of large consolidative-type pulmonary invasive mucinous adenocarcinomas (IMA). METHODS: We retrospectively reviewed 738 patients who confirmed IMA between January 2010 and August 2022, and two radiologists reviewed imaging data to determine subtypes. We included 41 patients with pathologically large consolidative-type IMA. We analyzed their radiological, pathological, and prognostic characteristics. The recurrence-free survival (RFS) and overall survival (OS) were determined using the Kaplan-Meier method. RESULTS: Most lesions were located in the lower lobe, with 46.3% patients showing multiple lesions. Halo, angiogram, vacuole, air bronchogram, and dead branch sign were observed in 97.6%, 73.2%, 63.4%, 61.0%, and 61.0% of the cases, respectively. Unevenly low enhancement was observed in 88.89% of patients. T3 and T4 pathological stages were observed in 50.0% and 30.6% of patients, respectively. Lymph node metastasis was observed in 16.7% patients, with no distant metastasis. Spread-through air spaces and intrapulmonary dissemination were observed in 27.8% and 19.4% patients, respectively. Moreover, Kirsten rat sarcoma viral oncogene mutations were found in 68.6% of cases, and no epidermal growth factor receptor mutations were seen. Among all mutation sites, G12V mutation is the most common, accounting for 40%. The average RFS and OS were 19.4 and 66.4 months, respectively, with 3-year RFS and OS rates of 30.0% and 75.0%, respectively. Pleural invasion and lymph node metastasis were independent risk factors for diagnosis. CONCLUSION: Halo, vacuole, angiogram, and dead branch signs were frequently observed in consolidative-type IMA. Kirsten rat sarcoma viral oncogene mutations are common in consolidative-type IMA, especially site G12V, whereas epidermal growth factor receptor mutations were rare; therefore, gene immunotherapy was more difficult. Most patients were in stage T3-T4; however, lymph node metastasis was rare.


Assuntos
Adenocarcinoma de Pulmão , Adenocarcinoma Mucinoso , Adenocarcinoma , Neoplasias Pulmonares , Humanos , Adenocarcinoma/patologia , Neoplasias Pulmonares/diagnóstico por imagem , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/tratamento farmacológico , Metástase Linfática , Estudos Retrospectivos , Proteínas Proto-Oncogênicas p21(ras)/genética , Adenocarcinoma de Pulmão/diagnóstico por imagem , Adenocarcinoma de Pulmão/patologia , Prognóstico , Adenocarcinoma Mucinoso/diagnóstico por imagem , Adenocarcinoma Mucinoso/genética , Adenocarcinoma Mucinoso/tratamento farmacológico , Estadiamento de Neoplasias
9.
Discov Med ; 36(182): 632-645, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38531804

RESUMO

BACKGROUND: Ovarian cancer (OC) accounts for about 4% of female cancers globally. While Ki67-immunopositive (Ki67+) cell density is commonly used to assess proliferation in OC, the two-dimensional (2D) distribution pattern of these cells is poorly understood. This study explores the 2D distribution pattern of Ki67+ cells in primary OC tissues and models the proliferation process to improve our understanding of this hallmark of cancer. METHODS: A total of 100 tissue cores, included in a tissue microarray (TMA) representing 5 clear cell carcinomas, 62 serous carcinomas, 10 mucinous adenocarcinomas, 3 endometrioid adenocarcinomas, 10 lymph node metastases from OC, and 10 samples of adjacent normal ovary tissue, were stained using a standardized immunohistochemical protocol. The computer-aided image analysis system assessed the 2D distribution pattern of Ki67+ proliferating cells, providing the cell number and density, patterns of randomness, and cell-to-cell closeness. Three computer models were created to simulate behavior and responses, aiming to gain insights into the variations in the proliferation process. RESULTS: Significant differences in Ki67+ cell density were found between low- and high-grade serous carcinoma/mucinous adenocarcinomas (p = 0.003 and p = 0.01, respectively). The Nearest Neighbor Index of Ki67+ cells differed significantly between high-grade serous carcinomas and endometrioid adenocarcinomas (p = 0.01), indicating distinct 2D Ki67+ distribution patterns. Proxemics analysis revealed significant differences in Ki67+ cell-to-cell closeness between low- and high-grade serous carcinomas (p = 0.002). Computer models showed varied effects on the overall organization of Ki67+ cells and the ability to preserve the original 2D distribution pattern when altering the location and/or density of Ki67+ cells. CONCLUSIONS: Cell proliferation is a hallmark of OCs. This study provides new evidence that investigating the Ki67+ cell density and 2D distribution pattern can assist in understanding the proliferation status of OCs. Moreover, our computer models suggest that changes in Ki67+ cell density and their location are critical for maintaining the 2D distribution pattern.


Assuntos
Adenocarcinoma Mucinoso , Carcinoma Endometrioide , Neoplasias Ovarianas , Feminino , Humanos , Carcinoma Endometrioide/patologia , Antígeno Ki-67 , Biomarcadores Tumorais/análise , Neoplasias Ovarianas/patologia , Adenocarcinoma Mucinoso/patologia
10.
Respir Investig ; 62(3): 360-364, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38428089

RESUMO

Invasive mucinous adenocarcinoma (IMA) of the lung is a rare variant of adenocarcinoma characterized by abundant intracytoplasmic mucin within the tumor. Although IMA has poor sensitivity to conventional chemotherapy regimens used for non-small cell lung cancer, we observed a better response to the bevacizumab (BEV) regimen. In this retrospective study, we aimed to investigate the response to BEV-combined regimens in patients with IMA. Among 16 consecutive patients diagnosed with IMA between January 2016 and December 2020 at our institution and treated with systemic chemotherapy, seven patients were treated with BEV-combined regimens. The overall response rate to BEV-combined regimens was 85.7%, with six patients showing a partial response. The median progression-free survival was 6.1 months. One patient experienced respiratory failure, which was improved after administration of BEV-combined regimen. BEV-combined systemic therapy may have a favorable effect on advanced or recurrent IMA of the lung.


Assuntos
Adenocarcinoma Mucinoso , Adenocarcinoma , Carcinoma Pulmonar de Células não Pequenas , Neoplasias Pulmonares , Humanos , Bevacizumab , Carcinoma Pulmonar de Células não Pequenas/tratamento farmacológico , Neoplasias Pulmonares/patologia , Estudos Retrospectivos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Recidiva Local de Neoplasia/tratamento farmacológico , Adenocarcinoma/tratamento farmacológico , Adenocarcinoma Mucinoso/tratamento farmacológico , Adenocarcinoma Mucinoso/induzido quimicamente , Pulmão/patologia
11.
Pancreatology ; 24(3): 456-462, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38448348

RESUMO

BACKGROUND: Autoimmune Pancreatitis (AIP) is a rare chronic inflammatory disease affecting the pancreas. Chronic pancreatic inflammation represents a risk factor for pre-neoplastic conditions such as Intraductal Papillary Mucinous Neoplasia (IPMN). Due to the rarity of AIP, the incidence, and clinical features of IPMN occurring in AIP patients remains unknown. AIMS: In the present study we aimed to explore the relationship between AIP and IPMN and to characterize the clinical features and outcomes of IPMN occurring in the context of AIP. METHODS: We retrospectively (2008-2020) analyzed the clinical and radiological records of a large single center cohort of patients with AIP and investigated the prevalence of IPMN. We then compared the clinical, laboratory and radiological characteristics of patients with IPMN and AIP with a cohort of patients with isolated IPMN. RESULTS: Five hundred and nineteen patients were included in this retrospective study. Sixteen patients had concomitant IPMN and AIP(3%); 61 patients had isolated AIP (12%); 442 patients had isolated IPMN (85%). The prevalence of IPMN in patients with AIP was higher than that observed in the general population (21%vs8-10%). Worrisome Features and High-Risk Stigmata were more frequently observed in IPMN occurring together with AIP compared to isolated IPMN(p < 0.05). Based on radiological features IPMN in the context of AIP was more frequently of main-duct type compared to isolated IPMN(p < 0.05). CONCLUSION: Our data suggest that AIP represents a chronic inflammatory condition that might favor IPMN development with high-risk features. Prolonged surveillance of these patients and longitudinal studies are required to further test the association with AIP and malignant and pre-malignant conditions.


Assuntos
Adenocarcinoma Mucinoso , Pancreatite Autoimune , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Humanos , Estudos Retrospectivos , Pancreatite Autoimune/complicações , Carcinoma Ductal Pancreático/patologia , Atenção Terciária à Saúde , Adenocarcinoma Mucinoso/patologia , Neoplasias Pancreáticas/patologia , Encaminhamento e Consulta
12.
Clin Nucl Med ; 49(5): 475-477, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38465959

RESUMO

ABSTRACT: A 67-year-old woman, previously diagnosed with pulmonary sarcoidosis and sigmoid colon mucinous adenocarcinoma with pulmonary metastasis, showed an enlarged pulmonary nodule in routine follow-up. Because of the absence of treatment for either condition over the past 3 years, the nodule raised concerns of cancer recurrence or sarcoidosis progression. Its distinctive 18 F-FDG PET/CT appearance, compared with other pulmonary lesions, suggested a mucinous histology. The diagnosis was confirmed by pathological examination. This emphasizes the importance of knowledge of the 18 F-FDG PET/CT phenotype of neoplastic histological variants to address challenging diagnostic scenarios.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias do Colo , Neoplasias Colorretais , Sarcoidose , Feminino , Humanos , Idoso , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Fluordesoxiglucose F18 , Recidiva Local de Neoplasia/diagnóstico por imagem , Neoplasias Colorretais/diagnóstico por imagem , Neoplasias Colorretais/patologia , Adenocarcinoma Mucinoso/diagnóstico por imagem
13.
Ann Surg Oncol ; 31(4): 2632-2639, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38319513

RESUMO

BACKGROUND: The management of invasive intraductal papillary mucinous cystic neoplasm (I-IPMN) does not differ from de novo pancreatic ductal adenocarcinoma (PDAC); however, I-IPMNs are debated to have better prognosis. Despite being managed similarly to PDAC, no data are available on the response of I-IPMN to neoadjuvant chemotherapy. METHODS: All patients undergoing pancreatic resection for a pancreatic adenocarcinoma from 2011 to 2022 were included. The PDAC and I-IPMN cohorts were compared to evaluate response to neoadjuvant therapy (NAT) and overall survival (OS). RESULTS: This study included 1052 PDAC patients and 105 I-IPMN patients. NAT was performed in 25% of I-IPMN patients and 65% of PDAC patients. I-IPMN showed a similar pattern of pathological response to NAT compared with PDAC (p = 0.231). Furthermore, positron emission tomography (PET) response (71% vs. 61%; p = 0.447), CA19.9 normalization (85% vs. 76%, p = 0.290), and radiological response (32% vs. 37%, p = 0.628) were comparable between I-IPMN and PDAC. A significantly higher OS and disease-free survival (DFS) of I-IPMN was denoted by Kaplan-Meier analysis, with a p-value of < 0.001 in both plots. In a multivariate analysis, I-IPMN histology was independently associated with lower risk of recurrence and death. CONCLUSIONS: I-IPMN patients have a longer OS and DFS after surgical treatment when compared with PDAC patients. The more favorable oncologic outcome of I-IPMNs does not seem to be related to early detection, as I-IPMN histological subclass is independently associated with a lower risk of disease recurrence. Moreover, neoadjuvant effect on I-IPMN was non-inferior to PDAC in terms of pathological, CA19.9, PET, and radiological response and thus can be considered in selected patients.


Assuntos
Adenocarcinoma Mucinoso , Adenocarcinoma Papilar , Adenocarcinoma , Carcinoma Ductal Pancreático , Neoplasias Intraductais Pancreáticas , Neoplasias Pancreáticas , Humanos , Neoplasias Pancreáticas/tratamento farmacológico , Neoplasias Pancreáticas/cirurgia , Adenocarcinoma/patologia , Terapia Neoadjuvante , Adenocarcinoma Mucinoso/tratamento farmacológico , Adenocarcinoma Mucinoso/cirurgia , Recidiva Local de Neoplasia/tratamento farmacológico , Recidiva Local de Neoplasia/cirurgia , Carcinoma Ductal Pancreático/tratamento farmacológico , Carcinoma Ductal Pancreático/cirurgia , Adenocarcinoma Papilar/patologia , Estudos Retrospectivos
14.
Am J Surg Pathol ; 48(5): 528-537, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38353459

RESUMO

Sweat-gland carcinoma with neuroendocrine differentiation (SCAND) was recently proposed as a new cutaneous adnexal neoplasm with neuroendocrine differentiation; however, its genetics are not well known. Herein, we performed clinicopathologic and genetic analyses of 13 SCAND cases and 5 control cases of endocrine mucin-producing sweat gland carcinoma (EMPSGC). The SCAND group included 11 males and 2 females with a median age of 68 years (range, 50 to 80 y). All SCAND lesions occurred in the ventral trunk or genital area. Of the 13 SCAND cases, 9 and 5 exhibited lymph node and distant metastases, respectively. Three (23.1%) patients with SCAND died of the disease. In contrast, neither metastasis nor mortality was confirmed in the EMPSGC cases. Immunoexpression of the androgen receptor, c-Myb, and MUC2 was limited in SCAND, whereas EMPSGC frequently expressed these immunomarkers. GATA3 P409Afs*99 extension mutations were detected in 7 (53.8%) of the 13 SCAND cases, using Sanger or panel sequencing. All 7 SCAND cases with GATA3 mutations were located in the genital, inguinal, or lower abdominal regions, whereas 5 of the other 6 SCAND cases were located in the anterior upper to mid-trunk. No GATA3 mutations were detected in the EMPSGC cases (0/5, 0%). These clinicopathologic and genetic findings support SCAND as a tumor entity distinguishable from EMPSGC. In addition, the characteristic frameshift extension mutations in GATA3 contribute to the establishment of the tumor-type concept of SCAND.


Assuntos
Adenocarcinoma de Células Claras , Adenocarcinoma Mucinoso , Neoplasias Císticas, Mucinosas e Serosas , Tumores Neuroendócrinos , Neoplasias das Glândulas Sudoríparas , Masculino , Feminino , Humanos , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adenocarcinoma Mucinoso/patologia , Suor , Neoplasias das Glândulas Sudoríparas/genética , Neoplasias das Glândulas Sudoríparas/patologia , Mutação , Fator de Transcrição GATA3/genética
15.
Pathol Res Pract ; 255: 155181, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38340583

RESUMO

Primary vulvar adenocarcinoma is a particularly rare tumor with poorly understood histogenesis and unclear clinical characteristics and prognosis. Vulvar adenocarcinoma of intestinal type (VAIt) is a very uncommon subtype of primary vulvar adenocarcinoma and only 27 cases have been described in the literature in the past. Of these cases, two have been described as human papillomavirus (HPV)-associated VAIt. The current report presents two additional cases of primary VAIt showing variants in the KRAS, TP53, and DPYD genes and no evidence of HPV DNA by real-time polymerase chain reaction (RT-PCR). Next-generation sequencing (NGS) revealed TP53 pathogenic variants in both cases, but only one case had aberrant p53 protein immunohistochemical characteristics. KRAS and DPYD mutations were identified separately in the two cases. Due to their capacity to imitate the spread of more prevalent gastrointestinal carcinomas, these tumors may present diagnostic issues. Additional cases can contribute to a better understanding of the pathophysiology and prognosis of VAIt.


Assuntos
Adenocarcinoma Mucinoso , Adenocarcinoma , Neoplasias Colorretais , Infecções por Papillomavirus , Neoplasias Vulvares , Feminino , Humanos , Proteínas Proto-Oncogênicas p21(ras)/genética , Neoplasias Vulvares/genética , Neoplasias Vulvares/patologia , Proteína Supressora de Tumor p53/genética , Adenocarcinoma/genética , Neoplasias Colorretais/genética , Papillomaviridae
16.
World J Surg Oncol ; 22(1): 41, 2024 Feb 02.
Artigo em Inglês | MEDLINE | ID: mdl-38303008

RESUMO

BACKGROUND: Invasive mucinous adenocarcinoma of the lung (IMA) is a unique and rare subtype of lung adenocarcinoma with poorly defined prognostic factors and highly controversial studies. Hence, this study aimed to comprehensively identify and summarize the prognostic factors associated with IMA. METHODS: A comprehensive search of relevant literature was conducted in the PubMed, Embase, Cochrane, and Web of Science databases from their inception until June 2023. The pooled hazard ratio (HR) and corresponding 95% confidence intervals (CI) of overall survival (OS) and/or disease-free survival (DFS) were obtained to evaluate potential prognostic factors. RESULTS: A total of 1062 patients from 11 studies were included. In univariate analysis, we found that gender, age, TNM stage, smoking history, lymph node metastasis, pleural metastasis, spread through air spaces (STAS), tumor size, pathological grade, computed tomography (CT) findings of consolidative-type morphology, pneumonia type, and well-defined heterogeneous ground-glass opacity (GGO) were risk factors for IMA, and spiculated margin sign was a protective factor. In multivariate analysis, smoking history, lymph node metastasis, pathological grade, STAS, tumor size, and pneumonia type sign were found to be risk factors. There was not enough evidence that epidermal growth factor receptor (EGFR) mutations, anaplastic lymphoma kinase (ALK) mutations, CT signs of lobulated margin, and air bronchogram were related to the prognosis for IMA. CONCLUSION: In this study, we comprehensively analyzed prognostic factors for invasive mucinous adenocarcinoma of the lung in univariate and multivariate analyses of OS and/or DFS. Finally, 12 risk factors and 1 protective factor were identified. These findings may help guide the clinical management of patients with invasive mucinous adenocarcinoma of the lung.


Assuntos
Adenocarcinoma de Pulmão , Adenocarcinoma Mucinoso , Neoplasias Pulmonares , Pneumonia , Humanos , Adenocarcinoma de Pulmão/patologia , Adenocarcinoma Mucinoso/cirurgia , Adenocarcinoma Mucinoso/patologia , Pulmão/patologia , Neoplasias Pulmonares/patologia , Metástase Linfática , Estadiamento de Neoplasias , Pneumonia/patologia , Prognóstico , Estudos Retrospectivos , Masculino , Feminino
17.
BMC Womens Health ; 24(1): 87, 2024 02 03.
Artigo em Inglês | MEDLINE | ID: mdl-38310239

RESUMO

BACKGROUND: Approximately 50% of breast mucinous carcinomas (MCs) are oval and have the possibility of being misdiagnosed as fibroadenomas (FAs). We aimed to identify the key features that can help differentiate breast MC with an oval shape from FA on ultrasonography (US). METHODS: Seventy-six MCs from 71 consecutive patients and 50 FAs with an oval shape from 50 consecutive patients were included in our study. All lesions pathologically diagnosed. According to the Breast Imaging Reporting and Data System (BI-RADS), first, the ultrasonographic features of the MCs and FAs were recorded and a final category was assessed. Then, the differences in ultrasonographic characteristics between category 4 A (low-risk group) and category 4B-5 (medium-high- risk group) MCs were identified. Finally, other ultrasonographic features of MC and FA both with an oval shape were compared to determine the key factors for differential diagnosis. The Mann-Whitney test, χ2 test or Fisher's exact test was used to compare data between groups. RESULTS: MCs with an oval shape (81.2%) and a circumscribed margin (25%) on US were more commonly assessed in the low-risk group (BI-RADS 4 A) than in the medium-high-risk group (BI-RADS 4B-5) (20%, p < 0.001 and 0%, p = 0.001, respectively). Compared with those with FA, patients with MC were older, and tended to have masses with non-hypoechoic patterns, not circumscribed margins, and a posterior echo enhancement on US (p < 0.001, p < 0.001, and p = 0.003, respectively). CONCLUSION: The oval shape was the main reason for the underestimation of MCs. On US, an oval mass found in the breast of women of older age with non-hypoechoic patterns, not circumscribed margins, and a posterior echo enhancement was associated with an increased risk of being an MC, and should be subjected to active biopsy.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias da Mama , Fibroadenoma , Feminino , Humanos , Diagnóstico Diferencial , Fibroadenoma/diagnóstico , Ultrassonografia Mamária/métodos , Neoplasias da Mama/diagnóstico , Adenocarcinoma Mucinoso/diagnóstico por imagem , Estudos Retrospectivos
18.
Eur J Surg Oncol ; 50(4): 108053, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-38412587

RESUMO

INTRODUCTION: The purpose of this study is to investigate the prognostic impact of spread through air spaces (STAS) in invasive mucinous adenocarcinoma (IMA). MATERIALS AND METHODS: From 2015 to 2019, patients who underwent complete resection of IMA were extracted from the prospective database. Multivariable Cox-regression analysis and inverse probability of treatment weight (IPTW) - adjusted log-rank test for 5-year recurrence-free survival (RFS) were performed. RESULTS: STAS was observed in 39.1% (53 out of 133). The STAS (+) group shows larger tumor size (2.9 ± 2.4 cm vs 3.8 ± 2.4 cm, p = 0.031) and higher incidence of lympho-vascular invasion (6 [7.5%] vs 18 [34.0%], p < 00.001) compared to the STAS (-) group. The 5-year RFS was 66.1% in the STAS (+) group and 91.8% in the STAS (-) group (p < 00.001), and the incidence of locoregional recurrence was significantly higher in the STAS (+) group than the STAS (-) group (1 [1.2%] vs 12 [22.6%], p < 00.001). Multivariable analysis revealed that STAS was associated with poor prognosis for all-recurrence (hazard ratio 2.81, 95% confidence interval 1.01-7.81, p = 0.048). After IPTW adjustment, 5-year RFS was 66.3% in the STAS (+) group and 92.9% in the STAS (-) group (p = 0.007), and risk for locoregional recurrence was greater in the STAS (+) group than the STAS (-) group (1.1 [0.9%] vs 20.8 [16.6%], p < 00.001). CONCLUSIONS: STAS showed negative prognostic impact on all-recurrence, especially due to locoregional recurrence, after curative resection of IMA.


Assuntos
Adenocarcinoma de Pulmão , Adenocarcinoma Mucinoso , Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/patologia , Invasividade Neoplásica/patologia , Recidiva Local de Neoplasia/epidemiologia , Recidiva Local de Neoplasia/patologia , Adenocarcinoma de Pulmão/cirurgia , Adenocarcinoma de Pulmão/patologia , Prognóstico , Adenocarcinoma Mucinoso/cirurgia , Adenocarcinoma Mucinoso/patologia , Estadiamento de Neoplasias , Estudos Retrospectivos
20.
BMJ Case Rep ; 17(1)2024 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-38216158

RESUMO

Breast necrotising soft tissue infections (NSTIs) are rare surgical emergencies with limited cases described in the literature. Here, we discuss a unique case of a woman in her 70s who presented with newly diagnosed diabetes and a neglected right breast cancer associated with breast erythema, skin necrosis, crepitus on examination and breast soft tissue gas seen on CT requiring emergent total mastectomy with partial pectoralis muscle excision. Pathology revealed a 15 cm invasive mucinous adenocarcinoma and necrotising polymicrobial cellulitis with a large abscess cavity. She recovered from her surgery with strict glycaemic control and a 10-day course of antibiotics. Multidisciplinary tumour board recommended adjuvant anastrozole, abemaciclib and postmastectomy radiation to complete her oncological treatment. Although exceedingly rare, it is important that clinicians be aware of, promptly recognise and properly treat NSTIs of the breast, as correct care can be life-saving from both infection and malignancy.


Assuntos
Adenocarcinoma Mucinoso , Neoplasias da Mama , Fasciite Necrosante , Infecções dos Tecidos Moles , Feminino , Humanos , Neoplasias da Mama/complicações , Neoplasias da Mama/cirurgia , Celulite (Flegmão)/diagnóstico , Mastectomia , Mama/diagnóstico por imagem , Fasciite Necrosante/diagnóstico , Infecções dos Tecidos Moles/diagnóstico , Adenocarcinoma Mucinoso/complicações , Adenocarcinoma Mucinoso/cirurgia
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