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458 Possible Causes for Hypertrichosis of Eyebrows, Mutation in the MLL Gene, Thoracic Spinal Cord Tumor

  • Wiedemann-Steiner Syndrome

    Utilizing a whole-exome sequencing approach, the group identified de novo mutations in the mixed lineage leukemia ( MLL ) gene in five of six individuals with the syndrome[] […] cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long[] Facial characteristics include long eyelashes, thick or arched eyebrows with a lateral flare, and downslanting and vertically narrow palpebral fissures.[]

    Missing: Thoracic Spinal Cord Tumor
  • Small-Cell Carcinoma of the Lung

    […] amplification seen in FGFR1, MYCL, E2F2, and CCN2 genes Gene mutation seen in CREBBP, EP300, MLL, PTEN, SLIT2, and EPHA7 genes And gene inactivation seen in TP53 and RB1[] […] genes (in many cases) No preinvasive lesions, such as diffuse idiopathic pulmonary neuroendocrine hyperplasia (DIPNECH), or genetic mutations on MEN1 gene, which are both[] […] in individuals who have been continuously smoking for several decades (up to 30 years or more) Many genetic and chromosomal anomalies have been reported, which include: Gene[]

    Missing: Hypertrichosis of Eyebrows
  • Hodgkin Lymphoma

    gene.[] […] agents show deletion 5q/monosomy 5 and deletion 7q/monosomy 7; in contrast, those who were treated with topoisomerase II inhibitors show 11q23 translocations involving the MLL[] At the molecular level, there are two types of mutations: Class I, which alter the RAS-BRAF signal transduction pathways and increase cell proliferation; Class II, which disrupt[]

    Missing: Hypertrichosis of Eyebrows
  • Adenocarcinoma of the Breast

    Adenocarcinoma of the breast is a term encompassing several types of tumors such as ductal and lobular carcinomas. An asymptomatic painless mass is usually the only symptom in the early stages, whereas an array of constitutional and localized symptoms may be seen in more advanced disease. Mammography and other[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Bronchogenic Carcinoma

    We report a case of localized fibrous mesothelioma (LFM) of the pleura with bronchogenic carcinoma. LFM arose in the visceral pleura of the upper lobe in the left lung, and lung adenocarcinoma was located in the ipsilateral lower lobe. LFM is a rare mesenchymal tumor of the pleura. Concomitant occurrence with[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Recurrent Small-Cell Carcinoma of the Lung

    We designed a phase II study of weekly irinotecan (CPT-11) and carboplatin for refractory or relapsed small cell lung cancer (SCLC) and assessed the response rate, survival, and toxicity. Twenty-nine patients with refractory or relapsed SCLC were entered onto the trial. The median time off chemotherapy was 3.5[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Multiple Myeloma

    Monoclonal gammopathy of undetermined significance (MGUS) is one of the most common premalignant disorders. IgG and IgA MGUS are precursor conditions of multiple myeloma (MM), whereas light-chain MGUS is a precursor condition of light-chain MM. Smoldering MM (SMM) is a precursor condition with higher tumor burden[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Thoracic Spinal Cord Tumor

    This report describes the case of a 25-year-old man who developed intracranial subdural hematoma after resection of a thoracic spinal cord tumor.[] spinal cord tumor resection.[] CONCLUSIONS: Intrathecal morphine for postoperative analgesia after resection of cervical and thoracic spinal cord tumors is effective and safe.[]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Soft Tissue Sarcoma

    A 15-year-old boy presented with a growing mass on the anterior chest wall. History, clinical examination, and preoperative imaging studies were consistent with soft tissue sarcoma. He underwent open biopsy, and the intraoperative pathology diagnosis of nodular fasciitis resulted in performance of a lesional excision,[…][]

    Missing: Hypertrichosis of Eyebrows Mutation in the MLL Gene
  • Atypical Teratoid Rhabdoid Tumor

    In this regard, our findings of potentially functionally detrimental mutations in a number of genes involved in stem cell differentiation, such as LNX1 (modulation of NOTCH1[] Arachnoid and thoracic spinal cord lesion biopsies were sent for surgical pathology.[] […] may be required for the development of AT/RT in adults, similar to the paradigm in pediatric ALL where additional genomic anomalies are required for the pathogenesis of MLL[]

    Missing: Hypertrichosis of Eyebrows