A rare case of easily misdiagnosed primary mucoepidermoid carcinoma of the liver.
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ABSTRACT:
SUBMITTER: Liu F
PROVIDER: S-EPMC9243397 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Mucoepidermoid carcinomas (MECs) are rare head and neck malignant tumours that were originally considered to be benign. It has been estimated that ~20% of MECs in the major salivary glands, such as the parotid gland, and 50% in the several minor salivary glands found in the oral cavity, are malignant. The diagnosis of MECs is mainly based on ancillary and immunohistochemistry testing. However, owing to the difficulty in harvesting adequate material for histological examination, the histopathological diagnosis of intraoral MECs may be particularly challenging. We herein report a rare case of an 82-year-old patient who presented to the Department of Oral and Maxillofacial Surgery of Ryukyu University Hospital with complaints of a progressive swelling and pain in the ventral surface of the apex of the tongue. The patient had previously undergone needle biopsy and the histopathological analysis of the tumour suggested a diagnosis of irritation fibroma. To ensure a more accurate histopathological assessment, an incisional biopsy was performed, in addition to the haematological and radiological assessments. Examination of the obtained surgical specimen confirmed low-grade MEC of the anterior lingual gland. The tumour was surgically excised, the patient healed uneventfully and no recurrence was detected on the regular 3-year follow-up. Although MECs are relatively more common in the minor salivary glands of the oral cavity, they are a rare occurrence in the anterior lingual gland. Therefore, adequate histological material should be surgically harvested to perform a complete evaluation of the morphology and cytology of the tumour and ensure the accuracy of diagnosis.
| S-EPMC8647187 | biostudies-literature
Project description:BackgroundPrimary hepatic mucoepidermoid carcinoma (HMEC) is extremely rare and the molecular etiology is still unknown. The CRTC1-MAML2 fusion gene was previously detected in a primary HMEC, which is often associated with MEC of salivary gland in the literature.MethodsA 64-year-old male was diagnosed with HMEC based on malignant squamous cells and mucus-secreting cells in immunohistochemical examination. Fluorescence in situ hybridization (FISH) was used to detect the CRTC1-MAML2 fusion gene in HMEC. Whole-exome sequencing and Sanger sequencing were used to reveal the molecular characteristics of HMEC and analysis was performed with public data. Pedigree investigation was performed to identify susceptibility genes.ResultsHematoxylin-eosin staining and immunohistochemistry revealed that the tumor cells were composed of malignant epidermoid malignant cells and mucous cells, indicating a diagnosis of HMEC. The CRTC1-MAML2 fusion gene was not detected in the primary HMEC, and somatic mutations in GNAS, KMT2C and ELF3 genes were identified by sequencing. Analyses of public data revealed somatic GNAS alterations in 2.1% hepatobiliary tumors and relation with parasite infection. Heterozygous germline mutations of FANCA, FANCI, FANCJ/BRIP1 and FAN1 genes were also identified. Pedigree investigation verified that mutation of Fanconi's anemia susceptibility genes were present in the pedigree.ConclusionsHere we provide the first evidence of the molecular etiology of a rare HMEC associated with germline Fanconi's anemia gene mutations and somatic GNAS R201H mutation.
| S-EPMC8034126 | biostudies-literature
Project description:BackgroundMucoepidermoid carcinoma (MEC) is the most common malignant salivary gland tumor, and MECs of the lung are rare, accounting for 0.1-0.2% of malignant lung tumors. Pulmonary MECs are commonly found in the segmental or lobar bronchi, rarely presenting as endobronchial lesions.Case presentationHere we describe the case of a 21-year-old female with no comorbid conditions who presented at the emergency room with a cough, yellow phlegm, pleuritic chest pain, and a subjective fever. These symptoms had been present for approximately one week prior to the patient's arrival at the hospital. A chest X-ray revealed right lower lobe alveolar infiltrate and computed tomography of the chest showed dense consolidation of the right lower lobe with ovoid intraluminal density in the right main stem bronchus. Upon fiber optic bronchoscopy, an endobronchial lesion was found in the right main stem sparing the right upper lobe uptake. Endobronchial biopsy results was consistent with MEC of the lung. The patient underwent a bilobectomy with complete resection of the tumor.ConclusionEndobronchial MEC is a rare type of salivary gland tumor. Patients with low-grade MECs have a good prognosis, whereas those with high-grade MECs, which are aggressive and associated with metastatic disease, have a poor prognosis. However, early identification and surgical resection can result in a good prognosis.
| S-EPMC6115606 | biostudies-literature
Project description:The rare disease cryptogenic multifocal ulcerous stenosing enteritis (CMUSE) is characterized by multiple and recurring small intestinal ulcers with stenosis of unknown causes. In clinic, it is difficult to be differentiated from the inflammatory bowel disease, especially the Crohn disease.Here we report a pair of siblings who suffered from long-time anemia and abdominal pain and misdiagnosed with inflammatory bowel disease (IBD) for many years.They were finally diagnosed with CMUSE with intestinal obstruction.They both accepted surgical treatment and recovered well. No abdominal symptom appeared in the two-year follow-up.This report underscores that CMUSE patients may have a long course of suffering from anemia and abdominal pain, normal inflammatory markers and normal colon, and sometimes have a family history of CMUSE. Surgery of segmental bowel resection is a good way to solve intractable intestinal obstruction in CMUSE.
| S-EPMC5556202 | biostudies-other
Project description:IntroductionPulmonary mucoepidermoid carcinoma (PMEC) is an uncommon neoplasm of the lung and the main salivary gland-type lung carcinoma. The aims of this study were to review the clinicopathological and immunohistochemical features of PMEC and characterize the genetic events in PMEC.MethodsWe reviewed the pathology cases in our hospital and found 34 initially diagnosed PMEC cases, 26 of which were confirmed as PMEC after excluding 8 cases of MEC-like pulmonary carcinoma. The clinicopathological characteristics of the 26 PMEC cases and the 8 cases of MEC-like pulmonary carcinoma were retrospectively reviewed. MAML2 rearrangement was detected by fluorescence In Situ Hybridization (FISH). Immunostains of ALK, calponin, collagen IV, CK7, EGFR, HER2, Ki-67, Muc5Ac, p63, p40, and TTF-1 were performed. DNA was extracted from 23 cases of PMEC. Mutation profiling of the EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 genes were carried out using next-generation sequencing (NGS), Sanger sequencing, and quantitative polymerase chain reaction (QPCR) in 9 successfully amplified cases.ResultsTwenty-six cases of PMEC (18 low-grade, 8 high-grade) included 13 men and 13 women aged 12-79 years. Twenty-two cases had a central/endobronchial growth pattern, and 4 cases had a peribronchial growth pattern. Immunohistochemically, CK7, Muc5Ac, p40, and p63 were positive in all cases (26/26);EGFR was positive in 11 cases (11/26); TTF-1, Calponin, HER2 and ALK were negative in all cases (0/26). MAML2 rearrangement was identified in 12 of 18 PMEC cases. No mutations were detected in any of the 7 genes in the 9 cases that qualified for mutation analysis. Twenty-three PMEC patients had follow-up information with a median interval of 32.6 months. Both the 5- and 10-year overall survival rates (OS) were 72.1%, and a high-grade tumor was an adverse prognostic factor in PMEC. There were 8 cases of MEC-like pulmonary carcinoma aged 36-78 years: 2 cases were located in the bronchus, and 6 cases were located in the lung. p63 and TTF-1 were positive in all cases (8/8), p40 was positive in 5 cases (5/8), and ALK was positive in 5 cases (5/8). No cases of MAML2 rearrangement were detected, but there were 5 cases of ALK rearrangement.ConclusionsPMEC is a primary malignant pulmonary tumor with a relatively good prognosis that is historically characterized by the presence of mucous cells and a lack of keratinization. There are distinct differences between PMEC and MEC-like pulmonary carcinoma in tumor location preference, immunophenotype, and molecular genetics, and the differential diagnosis is critical due to the therapeutic and prognostic considerations.
| S-EPMC4648574 | biostudies-literature
Project description:BackgroundPulmonary mucoepidermoid carcinoma (PMEC) and pulmonary adenoid cystic carcinoma (PACC) are the two major types of primary salivary gland-type (PSGT) lung cancers. The demographic profile, clinicopathological features, and predictors of survival as an overall group have not been described for PSGT cancers of lung.MethodsIn this study, we analyzed demographic, clinical, and survival data from 1,032 patients (546 PMEC and 486 PACC) who were diagnosed of PSGT lung cancer in the Surveillance, Epidemiology and End Results database from 1973 to 2014.ResultsThe PSGT constituted 0.09% of all lung cancers with age-adjusted incidence rate of 0.07 per 100,000 person-years and change of -32% from 1973 to 2014. The incidence of PMEC was slightly higher than PACC but there were no differences in the age and sex distribution. PACCs (55%) were significantly higher at trachea and main bronchus while PMECs were more common at peripheral lungs (85%). Most of the tumors were diagnosed at an early stage and were low grade irrespective of histology. As compared to PMEC, significantly higher number of patients with PACC underwent radical surgery and received adjuvant radiation. The 1- and 5-year cause-specific survival was 76.6 and 62.8%, respectively. On multivariate analysis, the survival was affected by age at diagnosis, tumor stage, histological grade, period of diagnosis, and surgical resection. The histology showed strong interaction with time and hazard ratio of patients with PACC was significantly worse than patients with PMEC only after 5?years.ConclusionThe incidence of pulmonary PSGT cancer is 7 cases per 10 million population in the United States and is decreasing. There was no difference between demographic profile of patients with PMEC and PACC but pathological features were diverse. The difference in the survival of patients with the two histological types surfaced only after 5?years when survival of patients with PMEC was better than PACC.
| S-EPMC5962707 | biostudies-literature
Project description:Primary pulmonary high-grade mucoepidermoid carcinoma (MEC) with a cystic airspace is uncommon, and early metastasis is extremely rare. In such cases, however, it is clinically important for clinicians to consider whether the tumor has spread to the lymph nodes through the cystic airspace. A 77-year-old man presented to our hospital with cough and hemoptysis. Chest computed tomography showed a 25-mm-diameter mass with a cystic airspace located in the upper lobe of the left lung. The possibility of malignancy was considered. Without a definitive preoperative diagnosis, left upper lobectomy and mediastinal lymphadenectomy were performed. Histopathological examination revealed the typical histological characteristics of high-grade MEC (stage IA) and no lymph node metastasis. However, lymph node metastasis was found 6 months after surgical resection, and radiochemotherapy was performed. The patient developed widespread metastatic disease 4 months following completion of radiochemotherapy and died 2 months later. Primary pulmonary MEC with a cystic airspace is a rare malignant disease with uncommon imaging findings. Complete surgical resection is the main treatment method for high-grade MEC. In this case, we hypothesize that early metastasis was caused by seeding of tumor cells through the cystic airspace.
| S-EPMC8424610 | biostudies-literature
Project description:Calcifying nested stromal epithelial tumor is a very rare primary liver tumor in children. To our knowledge, few cases have been reported in literature. We describe the imaging appearance and histopathologic features of this tumor incidentally detected in a 2-year-old girl. This tumor should be considered in the differential when a large heterogeneous liver tumor with central scar and coarse/chunky calcifications is identified at imaging in the absence of elevated alpha-fetoprotein in a child.
| S-EPMC8258647 | biostudies-literature
Project description:BackgroundPrimary liver sarcomatoid carcinoma (PLSC) is rare. To improve the understanding of PLSC, cases were described and reviewing the literature.MethodsA retrospective analysis was performed on 14 cases of PLSC diagnosed by pathology in Northeastern China from 2010 to 2020. An individual participant data analysis based on reported cases was conducted to determine epidemiological characteristics, clinical characteristics, and prognoses of PLSC.ResultsA total of 136 cases involved our 14 cases and 122 cases from previous reports. The percentages of sarcomatoid hepatocellular carcinoma, sarcomatoid cholangiolocellular carcinoma, and mixed and unclassified types were 36.8%, 41.9%, 5.9%, and 15.4%, respectively. A total of 95.6% PLSC was found in Asia. There was a lower percentage of hepatitis-infected patients in Japan, when compared with the Republic of Korea (38.5% vs 70.0%, P<0.05). Five cases were initially misdiagnosed as a hepatic abscess by imaging. A total of 36.7% cases had metastases when being diagnosed, and 68.9% cases relapsed during the follow-up. The median disease-free survival and overall survival (OS) were 3 months and 5 months, respectively. Only radical surgery (hazard ratio = 0.308, 95% confidence interval 0.186-0.512, P<0.001) indicated a better OS.ConclusionPLSC was more prevalent in Asia and there were possibilities of misdiagnoses. Surgery is still an effective treatment and can significantly prolong the OS. Only limited strategies for recurrent or advanced PLSC, immunotherapy may be possible treatment.
| S-EPMC8434859 | biostudies-literature
Project description:Basal cell carcinoma can be misdiagnosed as acne; thus, carcinoma should be considered in treatment-resistant acne. Although rare, neglected basal cell carcinoma increases the risk of metastasis.
| S-EPMC4891487 | biostudies-literature