18 research outputs found

    Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015)

    Get PDF

    Intranodal palisaded myofibroblastoma arising from parotid gland: A case report of an unusual origin

    No full text
    Intranodal palisaded myofibroblastoma (IPM) is a rare benign mesenchymal tumor of hybrid smooth muscle and fibroblastic cell features. It is characterized by hemorrhagic spindle cell proliferation, with amianthoid stromal formation in lymph node. The precise etiology and pathogenesis of this entityis not yet explained well. Previous examples were reported in adults and mainly in inguinal and rarely in the peritoneal cavity. To our knowledge this is the first occurrence to be reported in the parotid gland of a 7-year-old male. Keywords: Intranodal palisaded myofibroblastoma, Amianthoid fibers, Lymph node, Peritoneal cavit

    CONGENITAL LUPUS ERYTHEMATOSUS

    No full text
    Neonatal lupus erythematosus (NLE) is an autoimmune disease affecting the fetus as a result of transplacental transfer of anti-Ro autoantibodies. Typically, it presents in the first few months of life with an annular form of subacute cutaneous lupus erythematosus. We report an unusual case of NLE presenting at birth with scaly erythematous telangiectatic patches and macules with skin atrophy involving the face, head, and upper trunk. Thrombocytopenia was discovered on laboratory investigations. Histopathology of skin biopsy was consistent with subacute cutaneous lupus. The mother was clinically free of disease and had no family history of autoimmune disease. Serology (extra-nuclear antigens) was positive in both the baby and the mother. This is a rare presentation of a rare disease

    Distal Humerus as Delayed Site of Metastasis from Small Cell Carcinoma of Gallbladder

    Get PDF
    Background. Small cell carcinoma (SCC) of the gallbladder is a rare entity and is often seen in elderly women. SCC of gallbladder is typically a nonsecretory carcinoid tumor without overt clinical symptoms and is often discovered at advanced stages. SCC of gallbladder carries a dismal prognosis as compared to SCC of lung and adenocarcinoma of gallbladder. To date, only 73 case reports have been published in the world literature. Case Presentation. Herein, we report a case of a 73-year-old Saudi woman who presented with one week history of right upper quadrant abdominal pain and obstructive jaundice and was found to be a case of locally advanced, metastatic SCC of gallbladder cT4N1M1 (liver, para-aortic lymph nodes, and bone). The patient was treated with neoadjuvant etoposide and cisplatin (EP) chemotherapy three cycles after biliary stenting followed by radical cholecystectomy, lymphadenectomy, and adjuvant EP chemotherapy and then one year later developed distal humerus osseous metastasis. Conclusion. SCC of the gallbladder is very rare entity and is often seen at advanced stages. Osseous metastases of peripheral skeleton from SCC gallbladder are rarely reported. Surgery is curative option but only for early stage tumors. Incorporation of chemotherapy along with radical resection increases the survival

    MicroRNA profiling of salivary adenoid cystic carcinoma: association of miR-17-92 upregulation with poor outcome.

    Get PDF
    Salivary adenoid cystic carcinoma (ACC) is a rare relentlessly progressive malignant tumor. The molecular events associated with ACC tumorigenesis are poorly understood. Variable microRNAs (miRNA) have been correlated with tumorigenesis of several solid tumors but not in ACC. To investigate the association of miRNAs with the development and/or progression of ACC, we performed a comparative analysis of primary ACC specimens and matched normal samples and a pooled salivary gland standard and correlated the results with clinicopathologic factors and validated selected miRNAs in a separate set of 30 tumors.MiRNA array platform was used for the identification of target miRNAs and the data was subjected to informatics and statistical interrelations. The results were also collected with the MYB-NFIB fusion status and the clinicopathologic features.Differentially dysregulated miRNAs in ACC were characterized in comparison to normal expression. No significant differences in miRNA expression were found between the MYB-NFIB fusion positive and -negative ACCs. Of the highly dysregulated miRNA in ACC, overexpression of the miR-17 and miR-20a were significantly associated with poor outcome in the screening and validation sets.Our study indicates that the upregulation of miR-17-92 may play a role in the biology of ACC and could be potentially targeted in future therapeutic studies

    Downregulated miRNAs in salivary adenoid cystic carcinoma in comparison to normal salivary gland.

    No full text
    <p>NA; no information. miRNA(*); miRNA star strand.</p>a<p>Mann-Whitney U test,<sup> b</sup>Tumor/Normal median ratio <0.5 classified as significant. <b><sup>c</sup></b>chromosomal location. <sup>d</sup>These information obtained from miRBase database (<a href="http://www.mirbase.org" target="_blank">http://www.mirbase.org</a>). <sup>e</sup>The miR-17-92 cluster and its paralogs.</p
    corecore