Next generation sequencing can be helpful in histologic diagnosis: a case report of metastatic breast cancer mimicking atypical carcinoid tumor of lung

Publication date: Available online 20 January 2020Source: Pathology - Research and PracticeAuthor(s): In Hye Song, Sook-Hee Hong, Kyo Yeong Lee, Jun Kang, Sung Hak Lee, Jieun Lee, Ahwon LeeAbstractDevelopment of molecular technology has led to the expansion of next generation sequencing (NGS) in area of diagnostic pathology. Here we present a case in which a lung tumor, which resembled an atypical carcinoid tumor, was revealed as metastatic breast cancer by next generation sequencing. A 50-year-old female, who had received modified radical mastectomy for breast cancer, presented with a 2.1 cm sized lung mass. The mass was well-defined, well-enhanced, and showed endobronchial component by computed tomography. Under the impression of carcinoid tumor, right upper lobectomy was performed. Tumor cells were immunohistochemically positive for chromogranin and CD56, but negative for cytokeratin 7 and GCDFP-15. Initially, the patient was diagnosed with atypical carcinoid tumor. However, subsequent NGS test revealed GATA3 mutation (p.Ala333fs) of the lung tumor. After a thorough review of literature and public cancer genome data about GATA3 mutation, the diagnosis was revised to metastatic invasive carcinoma from breast.
Source: Pathology Research and Practice - Category: Pathology Source Type: research

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Publication date: Available online 26 February 2020Source: Meta GeneAuthor(s): Salma Begum Bhyan, YongKiat Wee, Mingyu Luo, Yining Liu, Min Zhao
Source: Meta Gene - Category: Genetics & Stem Cells Source Type: research
ConclusionNEAT1 upregulateIGF2 expression through absorbing miR ‐185‐5p to enhances the migration and invasion of colon cancer cells.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
ConclusionOur results suggest that the combination of altered expression of genes involved in signaling pathways of immune response and apoptosis control may contribute directly to the main characteristics observed in BS, such as recurrent infections, growth failure, and high risk of cancer. Transcriptome studies of other instability syndromes could allow a more accurate analysis of the relevant gene interactions associated with the destabilization of the genome. This is a first description of the profile of differential gene expression related to immunological aspects detected in patients with BS by RNA ‐seq.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Helicobacter pylori is one of the most prevalent infection worldwide. It affects individuals of different age groups. Aging ‐associated risk factors should be considered. Future studies, related to aging andH. pylori infection with extragastric disease can help to provide vivid evidences. AbstractHelicobacter pylori is one of the most prevalent infection worldwide. It affects individuals of different age groups. Elderly people tend to resist eradication treatment and worsening of infection can lead to several gastric and non ‐gastric pathologies. Aging‐associated cellular and molecular alteration can increase the ris...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: REVIEW ARTICLE Source Type: research
ConclusionIn summary, the above results indicate thatXIST promotes colorectal cancer tumorigenesis by regulating miR ‐93‐5p/HIF ‐1A/AXL signaling pathway, which will supply a novel perspective to diagnose and treat colorectal cancer disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Publication date: Available online 26 February 2020Source: Urology Case ReportsAuthor(s): Tomoko Yonamine, Tadashi Kaname, Yasutsugu Chinen, Kouichi Tamashiro, Noritake Kosuge, Seiichi Saito
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
Abstract Development of molecular technology has led to the expansion of next generation sequencing (NGS) in area of diagnostic pathology. Here we present a case in which a lung tumor, which resembled an atypical carcinoid tumor, was revealed as metastatic breast cancer by next generation sequencing. A 50-year-old female, who had received modified radical mastectomy for breast cancer, presented with a 2.1 cm sized lung mass. The mass was well-defined, well-enhanced, and showed endobronchial component by computed tomography. Under the impression of carcinoid tumor, right upper lobectomy was performed. Tumor cells w...
Source: Pathology, Research and Practice - Category: Pathology Authors: Tags: Pathol Res Pract Source Type: research
Krukenberg tumor, defined as metastatic adenocarcinoma to the ovary containing at least 10% signet ring cells, usually arises from the stomach but can also originate from other sites. We reviewed 17 metastatic breast carcinomas to the ovary with signet ring cells to potentially identify features indicative of mammary origin as opposed to other possible primary sites. The patients ranged from 41 to 76 (mean, 53.6) yr. Fourteen had a prior history of invasive breast carcinoma (invasive ductal carcinoma, 4; invasive lobular carcinoma, 3; adenocarcinoma not otherwise specified, 3; carcinoma with ductal and lobular featu...
Source: International Journal of Gynecological Pathology - Category: Pathology Tags: Pathology of the Upper Genital Tract: Original Articles Source Type: research
Authors: Juanmartiñena JF, Montes M, Fernández-Urién I Abstract An 80 year-old female presented with ductal breast carcinoma (stage II) three years ago, complained of asthenia and iron-deficiency anemia. No diagnosis was obtained after conventional endoscopy and iron supplements were indicated. Ten months later visible digestive hemorrhage was presented. Upper and lower endoscopy was repeated but non-diagnosis was obtained. Thus, video capsule endoscopy was indicated identifying a stenotic lesion arising in the mucosa of distal jejunum. Histopathological examination revealed a poorly mucinous d...
Source: Revista Espanola de Enfermedades Digestivas - Category: Gastroenterology Tags: Rev Esp Enferm Dig Source Type: research
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Source: Annals of Oncology - Category: Cancer & Oncology Authors: Tags: supportive care Source Type: research
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