Mammary-type Myofibroblastoma with Leiomyomatous Differentiation: A Rare Variant with Potential Pitfalls

2021 ◽  
pp. 106689692110313
Author(s):  
Alexander M. Strait ◽  
Julia A. Bridge ◽  
Anthony J. Iafrate ◽  
Marilyn M. Li ◽  
Feng Xu ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Transcriptome Sequencing ◽  
Smooth Muscle Actin ◽  
The Body ◽  
Muscle Actin ◽  
Mature Adipose Tissue ◽  
Spindle Cells ◽  
Whole Transcriptome Sequencing ◽  
Whole Transcriptome

Myofibroblastoma is a rare, benign stromal tumor with a diverse morphologic spectrum. Mammary-type myofibroblastoma (MTMF) is the extra-mammary counterpart of this neoplasm and its occurrence throughout the body has become increasingly recognized. Similar morphologic variations of MTMF have now been described which mirror those seen in the breast. We describe a case of intra-abdominal MTMF composed of short fascicles of eosinophilic spindle cells admixed with mature adipose tissue. The spindle cells stained diffusely positive for CD34, desmin, smooth muscle actin, and h-caldesmon by immunohistochemistry. Concurrent loss of RB1 (13q14) and 13q34 loci were confirmed by fluorescence in situ hybridization whereas anchored multiplex PCR and whole transcriptome sequencing did not reveal any pathognomonic fusions suggesting an alternative diagnosis. To the best of our knowledge this is the first documented case of leiomyomatous variant of MTMF.

scholarly journals Temporal primary cutaneous carcinosarcoma in the ear: A case report

2021 ◽  
Vol 12 (2) ◽  
pp. 180-182
Author(s):  
Issam Msakni ◽  
Aya Khemir ◽  
Nada Mansouri
Keyword(s):  
Case Report ◽  
Smooth Muscle Actin ◽  
The Body ◽  
Muscle Actin ◽  
Epithelial Component ◽  
Spindle Cells ◽  
Stromal Component ◽  
Peripheral Palisading ◽  
Biphasic Tumor

Carcinosarcoma is a rare biphasic tumor made of two malignant components—the epithelial component and the stromal component—that can develop anywhere on the body, but mainly in sun-exposed areas. We report the case of a 78-year-old male who presented himself with a right temporal tumor in the ear 10 cm in diameter. A biopsy suggested a sarcoma. The patient underwent an extensive surgical resection of the temporal mass and the ipsilateral ear. A microscopic examination of the tumor revealed two intermixed malignant contingents. The epithelial component was made of atypical basaloid cells arranged in nests with peripheral palisading and expressing cytokeratin. The stromal component was made of atypical spindle cells expressing smooth muscle actin (SMA). A diagnosis of primary cutaneous carcinosarcoma with clear margins was reached. The patient is alive and without recurrence after twelve months of a follow-up period.

Intraocular Inflammatory Myofibroblastic Tumor With ALK Overexpression

2004 ◽  
Vol 128 (1) ◽  
pp. e5-e7
Author(s):  
Dennis P. O'Malley ◽  
Christopher Poulos ◽  
Magdalena Czader ◽  
Warren G. Sanger ◽  
Attilio Orazi
Keyword(s):  
Tumor Cells ◽  
Inflammatory Myofibroblastic Tumor ◽  
Plasma Cells ◽  
Smooth Muscle Actin ◽  
Chromosome 2 ◽  
Muscle Actin ◽  
Anaplastic Lymphoma ◽  
Spindle Cells ◽  
Multiple Copies

Abstract We report a case of an intraocular inflammatory myofibroblastic tumor nearly filling the vitreous cavity of the eye of a 50-year-old man. The tumor was composed of a mixture of spindle cells and mixed inflammatory elements, including numerous plasma cells. The differential diagnosis included inflammatory pseudotumor and neoplastic mimics of this condition. Further investigation with immunohistochemistry revealed the mass to be composed of myofibroblasts, positive for smooth muscle actin stains and with weak anaplastic lymphoma kinase (ALK) expression in some tumor cells. Evaluation by fluorescence in situ hybridization revealed the tumor cells to have multiple copies of chromosome 2 and ALK but no rearrangement of the ALK gene. The authors propose that multiple copies of the ALK gene may be involved in inflammatory myofibroblastic tumor tumorigenesis, in addition to ALK gene rearrangements.

The prognosis of gastric adenocarcinoma depends on the crosstalk between immune profiles and tumor genomic alterations.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 4035-4035
Author(s):  
Deqiang Wang ◽  
Xiaofeng Chen ◽  
Yaping Xu ◽  
Yuange He ◽  
Lifeng Li ◽  
...  
Keyword(s):  
Gastric Adenocarcinoma ◽  
Transcriptome Sequencing ◽  
Clonal Expansion ◽  
Genomic Alterations ◽  
M1 Macrophages ◽  
Mutual Correlation ◽  
Cell Counts ◽  
M1 Macrophage ◽  
Whole Transcriptome Sequencing ◽  
Whole Transcriptome

4035 Background: Gastric adenocarcinoma (GAC) is with a complex microenvironment of tumor cells. A better understanding of the immune landscape of GACs may lead to the improved treatment strategies with ICIs. Methods: To determine whether the molecular characteristics can serve in prognostic stratification of GACs, tumor tissue and blood samples were collected from 231 GAC patients. The median follow-up time was 34 months. The TCR profile was determined by TCR-β CDR3 sequencing while mutation and gene expression profiles were determined by whole exon and whole transcriptome sequencing, respectively. Tumour-infiltrating immune cells were characterized using immunofluorescence (IF) staining. Results: The results showed the OS of patients with high levels of TCR clonality (TCR clonal expansion) was significantly improved compared with patients with low levels (HR = 1.80 and 2.22, p = 0.022 and 0.008, respectively) in the whole group and in the subgroup of patients with stages IB to III disease. Furthermore, low local clonality was an independent risk factor for OS (adjusted-HR = 1.68 and 1.95, p = 0.049 and 0.029, respectively). Thus, TCR clonal expansion in tumour tissue had a strong prognostic value for GAC patients, independent of clinicopathological factors. Based on whole exon and whole transcriptome sequencing, RNF43/FBXW7/ARID2 mutations and local TCR clonality jointly impacted prognosis (p < 0.001), and functional changes in corresponding Wnt pathway/Notch pathway/SWI/SNF complex characterized a GAC subset with enhanced tumour immunogenicity and TCR clonal expansion. TCR CDR3 sequence similarity comparisons yielded clusters of TCR clones of likely similar functions. The most expansive TCR clusters negatively correlated with the percentage of subclonal mutations (Pearson r = -0.8183, p < 0.001), indicating that tumors with less genomic heterogeneity might induce a greater immune response. By IF staining and mutual correlation analysis, only M1 macrophages showed a significant positive correlation with local TCR clonality for epithelia, stroma, and total cell counts. Tumors were categorized according to the density of M1 macrophages, M1 macrophage infiltrated subtype was associated with favorable OS (p = 0.040 and 0.043) and its combination with the local TCR clonality improved prognosis stratification (p < 0.001). Finally, the scoring by local TCR clonality, RNF43/FBXW7/ARID2 mutations and M1 infiltration determined the best prognosis (p < 0.001). Conclusions: TCR profiles were associated with genomic alterations and may serve as a prognostic biomarker for GACs. A multi-omic model including TCR profiles might produce an improved stratification for treatments and outcomes.

Benign Myoepithelioma of the Lung

2001 ◽  
Vol 125 (11) ◽  
pp. 1494-1496
Author(s):  
Ravindra Veeramachaneni ◽  
Janis Gulick ◽  
Ari O. Halldorsson ◽  
Thanh T. Van ◽  
Ping L. Zhang ◽  
...  
Keyword(s):  
Positron Emission Tomography ◽  
Smooth Muscle ◽  
Smooth Muscle Actin ◽  
Emission Tomography ◽  
Muscle Actin ◽  
Computed Tomographic ◽  
Spindle Cells ◽  
Positron Emission ◽  
Computed Tomographic Scan ◽  
Wedge Biopsy

Abstract This report describes a benign myoepithelioma of the lung that occurred in a 60-year-old woman. The patient had experienced hoarseness for 6 weeks, and a computed tomographic scan showed a nodule of approximately 2 cm in diameter at the peripheral portion of her right upper lung. Positron emission tomography showed no uptake of F-18 fluorodeoxyglucose in the nodule. Wedge biopsy of the lesion showed benign spindle cells arranged in a whorled pattern. The cells were positive for both cytokeratin and smooth muscle actin, which corresponded to the presence of tonofilaments and myofilaments that were identified ultrastructurally. The features of the present case of benign myoepithelioma that differ from features of previously reported benign and malignant cases of myoepithelioma in the lung are discussed in the report.

scholarly journals Primary prostatic extragastrointestinal stromal tumor: a case report and literature review

2018 ◽  
Vol 46 (10) ◽  
pp. 4343-4349 ◽  
Author(s):  
Yong-hao You ◽  
Yi Zhang
Keyword(s):  
Literature Review ◽  
Rectal Wall ◽  
Smooth Muscle Actin ◽  
Treatment Method ◽  
Stromal Tumor ◽  
Anterior Rectal Wall ◽  
Muscle Actin ◽  
Pelvic Tumor ◽  
Extragastrointestinal Stromal Tumor ◽  
Spindle Cells

Objective This study was performed to discuss the characteristics, diagnosis, and treatment of primary prostatic extragastrointestinal stromal tumor (EGIST). Methods The case history data of a patient with an EGIST were analyzed and discussed with a literature review. Results The patient was diagnosed with a pelvic tumor, possibly malignant. We ascertained the diagnosis by exploratory surgery and pathological biopsy. The tumor was present in the prostate and infiltrated and pressed against the anterior rectal wall. Pathological biopsy showed that the tumor comprised spindle cells, which were also present at the junction of the tumor and prostate tissue. Immunohistochemically, the tumor cells were positive for CD117, DOG-1, CD34, and smooth muscle actin and negative for S100 and desmin; Ki-67LI was about 10%. These results support the diagnosis of primary prostatic EGIST. Conclusion The rarity and nonspecific clinical manifestation of prostatic EGIST facilitate misdiagnosis. Diagnosis mainly depends on imaging examination and characteristic histopathological and immunohistochemical features, and GIST must be excluded. Surgery is the main treatment method, and imatinib is suggested for unresectable and malignant EGISTs.

Solitary Testicular Myofibroma: A Case Report and Review of the Literature

2005 ◽  
Vol 129 (10) ◽  
pp. 1322-1325
Author(s):  
Samson W. Fine ◽  
North J. Davis ◽  
Lawrence E. Lykins ◽  
Elizabeth Montgomery
Keyword(s):  
Case Report ◽  
Soft Tissues ◽  
Smooth Muscle Actin ◽  
Male Infant ◽  
Muscle Actin ◽  
Review Of The Literature ◽  
Infantile Myofibromatosis ◽  
Internal Organs ◽  
Mesenchymal Neoplasms ◽  
Spindle Cells

Abstract Myofibromas are benign mesenchymal neoplasms of myofibroblastic origin. Most present as solitary lesions at any age, but the presentation of multiple lesions in newborns and infants is known as infantile myofibromatosis. Multicentric lesions commonly involve soft tissues and bone and may involve internal organs, where they are associated with an unfavorable prognosis. Solitary lesions involving the viscera are rare. We report a case of a 3-month-old male infant with a left testicular mass detected during an evaluation for suspected torsion. The patient underwent orchiectomy, revealing a nodular mass with grossly evident foci of necrosis. Histologically, the lesion exhibited small fascicles of plump eosinophilic, smooth muscle actin–positive spindle cells, alternating with larger areas of primitive cells with vesicular nuclei and scant cytoplasm arranged around a hemangiopericytoma-like vasculature. To our knowledge, this is the first report of a myofibroma localized within the testis.

Analysis of mRNAs and ncRNAs and Prediction Competing Endogenous RNA Networks in Colorectal Cancer Chemo-Resistance by Whole-Transcriptome Sequencing

2020 ◽  
Author(s):  
Fei Yao ◽  
Chuanren Zhou ◽  
Qiyou Huang ◽  
Xiaoying Huang ◽  
Jie Chen ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Drug Resistance ◽  
Cell Lines ◽  
Transcriptome Sequencing ◽  
Regulatory Networks ◽  
Parental Cell ◽  
Resistant Cell ◽  
Competing Endogenous Rna ◽  
Whole Transcriptome Sequencing ◽  
Whole Transcriptome

Abstract Background: Chemo-resistance is a major clinical obstacle to the treatment of colorectal cancer (CRC), mRNAs and non-coding RNAs (ncRNAs) have been reported to modulate the development of chemo-resistance. However, the profiles of mRNAs and ncRNAs as well as competing endogenous RNA (ceRNA) networks in CRC chemo-resistance are still unclear, and whether different drug resistance of CRC have the same mechanisms also needs to be explored. This study aims to uncover the expression of mRNAs and ncRNAs in parental cell lines and different chemo-resistant cell lines, and construct ceRNA regulatory networks by whole-transcriptome sequencing.Methods: The expression of mRNAs and ncRNAs in parental cell lines and drug-resistant cell lines were identified by whole-transcriptome sequencing and bioinformatics methods.Results: A total of 1779 mRNAs, 64 miRNAs, 11 circRNAs and 295 lncRNAs were common differentially expressed in two different chemo-resistant cell lines when compared with the control. In addition, 5,767 lncRNA-miRNA-mRNA relationship pairs and 47 circRNA-miRNA-mRNA pathways were constructed according to ceRNA regulatory rules, in which AC109322.2-hsa-miR-371a-5p-BTNL3 and hsacirc_027876-hsa-miR-582-3p-FREM1 were identified as the most potential ceRNA networks involved in drug resistance to CRC. Gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis of two ceRNA regulatory networks showed that the TNF signaling pathway may be crucial in the process of CRC drug resistance.Conclusions: A large number of mRNAs and ncRNAs in chemo-resistant cell lines were different expressed, which may play pivotal roles in development of drug resistance through the ceRNA regulatory network. This study may improve our understanding of the underlying mechanisms and provide a promising therapeutic strategy for CRC chemo-resistance.

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