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 | 2022 May
REPOSITORIES: biostudies-literature
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A rare case of easily misdiagnosed primary mucoepidermoid carcinoma of the liver.
Liu Fusheng F Wang Bicheng B Zhang Zhonglin Z Yuan Yufeng Y Wang Haitao H
Genes & diseases 20211101 3
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Project description:Primary mucoepidermoid carcinoma of the liver (PMCL) is rare in the hepatic system, with no standard treatment and poor prognosis with a median overall survival of only 120 days. PMCL with immunotherapy has not been reported yet. Here, we present a case of PMCL treated by immunotherapy and chemotherapy. A 64-year-old male with PMCL underwent partial right hepatectomy and liver lesion resection on 19 June 2020. Two months later, the chest computed tomography indicated the presence of multiple nodules in both lungs with higher tumor markers. Considering the presence of a tumor metastasis, the patient received four courses of immunotherapy plus mGEMOX chemotherapy from 8 September 2020. The patient tolerated the combined therapy well, with red moles on the face and chest which were considered as grade 1 reactive cutaneous capillary endothelial proliferation. He also had grade 2 thrombocytopenia and leucopenia after the first course of chemotherapy, but no neutropenia, fatigue, vomiting or diarrhea. However, his disease progressed. The patient refused further treatment and died on 20 April 2021. The overall survival time after diagnosis was 301 days. We describe here the first case report on immunotherapy treatment for PMCL. That suggested immunotherapy combined with chemotherapy may be an option after a hepatic lobectomy for PMCL.
| S-EPMC9997629 | biostudies-literature
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:BackgroundAddison's disease and X-linked adrenoleukodystrophy (X-ALD) (Addison's-only) are two diseases that need to be identified. Addison's disease is easy to diagnose clinically when only skin and mucosal pigmentation symptoms are present. However, X-ALD (Addison's-only) caused by ABCD1 gene variation is ignored, thus losing the opportunity for early treatment. This study described two patients with initial clinical diagnosis of Addison's disease. However, they rapidly developed neurological symptoms triggered by infection. After further genetic testing, the two patients were diagnosed with X-ALD.MethodsWe retrospectively analyzed X-ALD patients admitted to our hospital. Clinical features, laboratory test results, and imaging data were collected. Whole-exome sequencing was used in molecular genetics.ResultsTwo patients were included in this study. Both of them had significantly increased adrenocorticotropic hormone level and skin and mucosal pigmentation. They were initially clinically diagnosed with Addison's disease and received hydrocortisone treatment. However, both patients developed progressive neurological symptoms following infectious disease. Further brain magnetic resonance imaging was completed, and the results suggested demyelinating lesions. Molecular genetics suggested variations in the ABCD1 gene, which were c.109_110insGCCA (p.C39Pfs*156), c.1394-2 A > C (NM_000033), respectively. Therefore, the two patients were finally diagnosed with X-ALD, whose classification had progressed from X-ALD (Addison's-only) to childhood cerebral adrenoleukodystrophy (CCALD). Moreover, the infection exacerbates the demyelinating lesions and accelerates the onset of neurological symptoms. Neither the two variation sites in this study had been previously reported, which extends the ABCD1 variation spectrum.ConclusionsPatients with only symptoms of adrenal insufficiency cannot be simply clinically diagnosed with Addison's disease. Being alert to the possibility of ABCD1 variation is necessary, and complete genetic testing is needed as soon as possible to identify X-ALD (Addison's-only) early to achieve regular monitoring of the disease and receive treatment early. In addition, infection, as a hit factor, may aggravate demyelinating lesions of CCALD. Thus, patients should be protected from external environmental factors to delay the progression of cerebral adrenoleukodystrophy.
| S-EPMC11218101 | biostudies-literature
Project description:Mucoepidermoid carcinoma (MEC) is the most common salivary gland carcinoma; however, hepatobiliary MEC is extremely rare. A 74-year-old patient was diagnosed with hepatobiliary MEC after hepatectomy. We considered its origin could be the peribiliary glands. Its genome profile was similar to salivary MEC rather than standard biliary tract carcinoma.
| S-EPMC8811179 | 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:BackgroundSalivary gland-like tumors are extremely unusual in the breast, and their histology is very similar to primary salivary gland neoplasms. Mucoepidermoid carcinoma (MEC), a common salivary gland tumor, displays an infrequent occurrence in the breast, accounting for a mere 0.2-0.3% incidence. Given its rarity, it is critical to accurately distinguish it from metastatic cases before diagnosing it as a primary breast MEC for appropriate treatment. Currently, there is no consensus on the treatment of MEC, and there is a paucity of literature highlighting the ideal treatment modality, especially for estrogen receptor (ER)-positive cancers. Therefore, the aim of our case report was to underscore the diagnostic process, surgical and adjunctive treatments for our patient with ER-positive, progesterone receptor (PR)-negative and human epidermal growth factor receptor 2 (HER2)-negative MEC while also conducting a literature review to contribute to the limited existing data.Case descriptionA 67-year-old African American woman presented with a lobulated 3.1-cm left breast mass on mammography, for which she underwent ultrasound-guided core needle biopsy that revealed invasive carcinoma with squamous differentiation. The carcinoma was ER-positive, PR-negative and HER2-negative. Subsequently, she underwent a lumpectomy with sentinel lymph node biopsy. Her final pathology revealed an intermediate-grade MEC with negative lymph nodes. She had a past medical history of benign salivary gland tumor, as well as a family history of BReast CAncer gene 1 (BRCA1)-associated breast cancer in her daughter.ConclusionsMEC of the breast is a rare tumor with a relatively favorable overall prognosis. The early and precise diagnosis of this condition plays a pivotal role in formulating effective treatment strategies and ensuring positive survival rates. Nonetheless, future studies are recommended to further explore the role of surgical approaches and adjuvant therapy to improve treatment outcomes.
| S-EPMC11002479 | 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:Lacrimal gland mucoepidermoid carcinoma is very rare. It has a high risk of recurrence and metastasis, however, it rarely metastasizes to the contralateral eye in clinical practice. Here, we present a case of a 52-year-old man with lacrimal gland mucoepidermoid carcinoma who developed multiple recurrences and metastases of another eye and other sites throughout the body after receiving surgical intervention and regular radiotherapy, which will be of ophthalmic interest and unique. Clinical features, imaging findings, histopathology, treatments, and outcomes of this very rare case are provided. A literature review of previously published cases of this disease is performed, with an emphasis on the latest diagnosis and treatment. The prognosis of tumor recurrence and metastasis is poorer, surgery with a negative margin in conjunction with adjuvant therapies is crucial for preventing local recurrence and distant metastasis and enhancing the survival rate.
| S-EPMC10034102 | biostudies-literature
Project description:Mucoepidermoid carcinoma (MEC) is one of the most common salivary gland malignancies. Our aim was to evaluate the prognostic impact of primary tumor site in patients with MEC.Material and methodsThis cohort identified 308 patients with MEC who underwent primary surgery between 1985 and 2015. Survival outcomes were determined using the Kaplan-Meier method. Hazard ratios for primary site were determined using the Cox proportional-hazards model.ResultsOne hundred eighty (58%) patients were diagnosed with minor and 128 (42%) with major salivary gland cancer. Primary site in the minor salivary gland group included 137 (44%) oral cavity, 38 (12%) pharynx, 3 (0.9%) nasal cavity, and 2 (0.6%) trachea and larynx. The major salivary gland group included 118 (38%) parotid, 8 (3%) submandibular, and 2 (0.6%) sublingual. With a median follow-up of 73 months, 5-year overall survival and disease-specific survival were 84% and 91%, respectively. Patients with tumors located in the hard palate and retromolar trigone had the best survival, while patients with tumors located in the paranasal sinuses and submandibular gland had the poorest survival. After controlling for tumor grade and stage, MEC primary site was not predictive of survival or recurrence. On multivariate analysis, worse DSS was associated with stage III-IV tumors (HR: 7,11; 95% CI: 1.19-26.43; p = 0.0034) and high-grade tumors (HR: 19.12; 95% CI: 2.26-162.77; p = 0.0068).ConclusionsWhile high grade and advanced overall stage were found to be independent predictors of worse survival, primary tumor site was not predictive of poor outcome.
| S-EPMC8671348 | biostudies-literature