scholarly journals Adult Primary Pineal Alveolar Rhabdomyosarcoma With FOXO1 Gene Rearrangement and OLIG2 Expression: a Case Report and the Literature Review

2021 ◽  
Author(s):  
Lesi Xie ◽  
Wei Wang ◽  
Hong Zhou ◽  
Zhijiang Han ◽  
Jinghong Xu ◽  
...  
Keyword(s):  
Gene Rearrangement ◽  
Fusion Gene ◽  
Obstructive Hydrocephalus ◽  
Final Diagnosis ◽  
Pineal Region ◽  
Alveolar Rhabdomyosarcoma ◽  
Malignant Soft Tissue Tumor ◽  
History Of ◽  
Pineal Lesion ◽  
Foxo1 Gene

Abstract Introduction: Alveolar rhabdomyosarcoma (ARMS) is a common malignant soft tissue tumor in child and adolescents. When diagnosed in adults, it is an aggressive, often fatal disease. Intracranial ARMS in adults is rare, especially in the pineal region. Case presentation: A 36-year-old Chinese man presented with a 3-month history of dizziness and 1-month history of headache and unsteady walking. Magnetic resonance imaging of the brain revealed a pineal region lesion with obstructive hydrocephalus. He received ventricular-abdominal shunt and endoscopic-assisted pineal lesion resection.The tumor appears as a solid sheet-like growth of medium-sized round or oval cells with map-like necrosis and some rhabdomyoblasts. Immunohistochemical test revealed that tumor cells were diffusely positive for desmin, myogenin, MyoD1, ALK and CD56. Notably, the tumors were diffusely positive for OLIG2. Fluorescence in situ hybridization confirmed the FOXO-1 gene rearrangement. The final diagnosis of the present case is ARMS of the pineal gland. Conclusions: We presented an extremely rare case of primary ARMS in adult pineal region particularly with expression of OLIG2 and confirmed by PAX3/7-FOXO1 fusion gene detection.

scholarly journals ACTA1 is inhibited by PAX3-FOXO1 through RhoA-MKL1-SRF signaling pathway and impairs cell proliferation, migration and tumor growth in Alveolar Rhabdomyosarcoma

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Qiande Hu ◽  
Liang Zhu ◽  
Yuan Li ◽  
Jianjun Zhou ◽  
Jun Xu
Keyword(s):  
Skeletal Muscle ◽  
Cell Proliferation ◽  
Tumor Growth ◽  
Signaling Pathway ◽  
Fusion Gene ◽  
Ectopic Expression ◽  
Alveolar Rhabdomyosarcoma ◽  
Luciferase Reporter ◽  
Protein Levels ◽  
Malignant Soft Tissue Tumor

Abstract Background Alveolar Rhabdomyosarcoma (ARMS) is a pediatric malignant soft tissue tumor with skeletal muscle phenotype. Little work about skeletal muscle proteins in ARMS was reported. PAX3-FOXO1 is a specific fusion gene generated from the chromosomal translocation t (2;13) (q35; q14) in most ARMS. ACTA1 is the skeletal muscle alpha actin gene whose transcript was detected in ARMS. However, ACTA1 expression and regulation in ARMS have not been well investigated. This work aims to explore the expression, regulation and potential role of ACTA1 in ARMS. Results ACTA1 protein was detected in the studied RH30, RH4 and RH41 ARMS cells. ACTA1 was found to be inhibited by PAX3-FOXO1 at transcription and protein levels by employing western blot, luciferase reporter, qRT-PCR and immunofluorescence assays. The activities of ACTA1 gene reporter induced by RhoA, MKL1, SRF, STARS or Cytochalasin D molecule were reduced in the presence of overexpressed PAX3-FOXO1 protein. CCG-1423 is an inhibitor of RhoA-MKL1-SRF signaling, we observed there was a synergistic effect between this inhibitor and PAX3-FOXO1 to suppress ACTA1 reporter activity. Furthermore, PAX3-FOXO1 overexpression decreased ACTA1 protein level and knockdown of PAX3-FOXO1 by siRNA enhanced ACTA1 expression. In addition, both MKL1 and SRF, but not RhoA were also found to be inhibited by PAX3-FOXO1 gene at protein levels and increased once knockdown of PAX3-FOXO1 expression. The association between MKL1 and SRF in cells was decreased accordingly with ectopic expression of PAX3-FOXO1. However, the distribution of MKL1 and SRF in nuclear or cytoplasm fraction was not changed by PAX3-FOXO1 expression. Finally, we showed that ACTA1 overexpression in RH30 cells could inhibit cell proliferation and migration in vitro and impair tumor growth in vivo compared with the control groups. Conclusions ACTA1 is inhibited by PAX3-FOXO1 at transcription and protein levels through RhoA-MKL1-SRF signaling pathway and this inhibition may partially contribute to the tumorigenesis and development of ARMS. Our findings improved the understanding of PAX3-FOXO1 in ARMS and provided a potential strategy for the treatment of ARMS in future.

Genomic Characterization of a Metastatic Alveolar Rhabdomyosarcoma Case Using FISH Studies and CGH+SNP Microarray Revealing FOXO1-PAX7 Rearrangement with MYCN and MDM2 Amplification and RB1 Region Loss

2016 ◽  
Vol 150 (3-4) ◽  
pp. 253-261 ◽  
Author(s):  
Arivarasan Karunamurthy ◽  
Lori Hoffner ◽  
Jie Hu ◽  
Peter Shaw ◽  
Sarangarajan Ranganathan ◽  
...  
Keyword(s):  
Gene Rearrangement ◽  
Soft Tissue Sarcomas ◽  
Copy Number Variations ◽  
Alveolar Rhabdomyosarcoma ◽  
Comparative Genomic ◽  
Genomic Characterization ◽  
Foxo1 Gene ◽  
Oncogenic Gene ◽  
Mdm2 Amplification

Rhabdomyosarcomas (RMS) are rare, heterogeneous, soft tissue sarcomas and a common type of childhood malignancy with a distinct histomorphology. At the molecular level, alveolar rhabdomyosarcoma (ARMS), a subtype of RMS, harbors a signature genetic makeup characterized by specific translocations. The type of translocation and associated genetic aberrations correlate with disease progression, hence we used multiple molecular modalities including high-resolution array comparative genomic hybridization to explore the oncogenic gene fusion and associated copy number variations in a case of metastatic ARMS. We describe a case where traditional cytogenetic and molecular methods yielded inconclusive results in detecting the FOXO1 gene rearrangement. However, microarray analysis identified the essential FOXO1-PAX7 aberration and additional submicroscopic genomic alterations, including amplification of MYCN and MDM2 and deletion of RB1.

scholarly journals A rare giant mixed germ cell tumor of the pineal region with immature elements: Case report and review of the literature

Rare Tumors ◽  
2021 ◽  
Vol 13 ◽  
pp. 203636132110265
Author(s):  
Camille K Milton ◽  
Panayiotis E Pelargos ◽  
Nathaniel D Stetson ◽  
Manuel Maldonado-Vital ◽  
Kar-Ming A Fung ◽  
...  
Keyword(s):  
Germ Cell ◽  
Obstructive Hydrocephalus ◽  
Mature Teratoma ◽  
Germ Cell Tumors ◽  
Pineal Region ◽  
Term Survival ◽  
Mixed Germ Cell Tumor ◽  
History Of ◽  
Pathologic Analysis ◽  
Mixed Germ Cell Tumors

The diagnosis and management of mixed intracranial germ cell tumors may be complicated by the diversity present within this tumor category. Mixed germ cell tumors demonstrate variable natural histories which may be altered by the inclusion of even the most minute immature histological components. We report the case of an 18-year-old male who presented with a 3-month history of progressive headache and nausea leading to lethargy. Imaging revealed a giant pineal region mass extending superiorly from the roof of the fourth ventricle into the lateral ventricle, with resultant obstructive hydrocephalus. No spinal lesions were noted. Following gross total resection, the patient experienced marked improvement. Pathologic analysis identified an uncommon tumor composition: mature teratoma (96%), immature teratoma (2%), and germinoma (2%). Guided by the immature component, chemotherapy and radiation were added post-operatively to provide this patient with the greatest chance of long-term survival. Intracranial pathology, including germ cell tumors, should be included in the differential for any young patient presenting with new and progressive headache and nausea. This case emphasizes the benefit of a multimodal approach to mixed germ cell tumors of the pineal region and the importance of careful pathologic review of all submitted material.

scholarly journals Endometriosis Mimicking a Cecum Mass with Complete Bowel Obstruction: An Infrequent Cause of Acute Abdomen

2019 ◽  
Vol 2019 ◽  
pp. 1-4
Author(s):  
Gabriel A. Molina ◽  
Darwin R. Ramos ◽  
Alberto Yu ◽  
Patricio A. Paute ◽  
Paul S. Llerena ◽  
...  
Keyword(s):  
Intestinal Obstruction ◽  
Bowel Obstruction ◽  
Preoperative Diagnosis ◽  
Malignant Tumors ◽  
Signs And Symptoms ◽  
Final Diagnosis ◽  
Intestinal Involvement ◽  
History Of ◽  
Ovarian Abscess ◽  
Fertile Women

Endometriosis is a common entity among fertile women which unfortunately manifests through variable symptomatology. Intestinal involvement in endometriosis is quite common and can simulate several diseases such as Crohn’s disease, appendicitis, tubo-ovarian abscess, or malignant tumors. Intestinal obstruction due to endometriosis is rare, and preoperative diagnosis is difficult because the signs and symptoms are nonspecific and can be easily confused. In the case of patients without a history of endometriosis, diagnosis is further complicated. We present a case of a 41-year-old female patient. She presented to the emergency room with complete bowel obstruction and a mass in the cecum. Surgery was decided, and the patient underwent full recovery. Endometriosis was the final diagnosis for the observed condition.

scholarly journals FOXO1 gene involvement in a non-rhabdomyosarcomatous neoplasm

2021 ◽  
Author(s):  
Simon Haefliger ◽  
Muriel Genevay ◽  
Michel Bihl ◽  
Romina Marone ◽  
Daniel Baumhoer ◽  
...  
Keyword(s):  
Transcription Factors ◽  
Soft Tissue ◽  
Genetic Heterogeneity ◽  
Gene Fusion ◽  
Fusion Gene ◽  
Soft Tissue Tumors ◽  
Gene Fusions ◽  
Mesenchymal Tumors ◽  
Myoepithelial Differentiation ◽  
Foxo1 Gene

AbstractMyoepithelial neoplasms of soft tissue are rare tumors with clinical, morphological, immunohistochemical, and genetic heterogeneity. The morphological spectrum of these tumors is broad, and the diagnosis often requires immunostaining to confirm myoepithelial differentiation. Rarely, tumors show a morphology that is typical for myoepithelial neoplasms, while the immunophenotype fails to confirm myoepithelial differentiation. For such lesions, the term “myoepithelioma-like” tumor was introduced. Recently, two cases of myoepithelioma-like tumors of the hands and one case of the foot were described with previously never reported OGT-FOXO gene fusions. Here, we report a 50-year-old woman, with a myoepithelial-like tumor localized in the soft tissue of the forearm and carrying a OGT-FOXO1 fusion gene. Our findings extend the spectrum of mesenchymal tumors involving members of the FOXO family of transcription factors and point to the existence of a family of soft tissue tumors that carry the gene fusion of the OGT-FOXO family.

Neurosurgical management of a giant colloid cyst with atypical clinical and radiological presentation

2014 ◽  
Vol 121 (5) ◽  
pp. 1185-1188 ◽  
Author(s):  
Joel Woodley-Cook ◽  
Jaime L. Martinez ◽  
Anish Kapadia ◽  
David G. Munoz ◽  
Aditya Bharatha ◽  
...  
Keyword(s):  
Vision Loss ◽  
Obstructive Hydrocephalus ◽  
Memory Loss ◽  
Final Diagnosis ◽  
Colloid Cyst ◽  
Ct Scans ◽  
Mr Images ◽  
Diagnostic Dilemma ◽  
Foramen Of Monro ◽  
Histopathological Investigation

The finding of a colloid cyst on neuroimaging is often incidental. These lesions are usually located at the foramen of Monro, are hyperdense on CT scans, and generally demonstrate signal intensity of water on MR images, although this depends on their content. When symptomatic, they frequently present with headaches and nausea due to an obstructive hydrocephalus. The authors describe a case of a giant colloid cyst in a patient presenting with complete left-sided vision loss and progressive memory loss, two very atypical findings in colloid cyst presentation. Imaging findings were also atypical, and this case proved to be a diagnostic dilemma because of its clinical and radiological presentation. Histopathological investigation was of utmost importance in the final diagnosis of a colloid cyst. To the authors' knowledge this colloid cyst is larger than any other described in the literature.

Tracheobronchial Foreign Bodies: The Impact of a Postgraduate Educational Program on Diagnosis, Morbidity, and Treatment

PEDIATRICS ◽  
1982 ◽  
Vol 70 (1) ◽  
pp. 96-98
Author(s):  
Marc Puterman ◽  
Rafael Gorodischer ◽  
Alberto Leiberman
Keyword(s):  
Educational Program ◽  
Foreign Bodies ◽  
Final Diagnosis ◽  
Physician Performance ◽  
Postgraduate Educational ◽  
Before And After ◽  
History Of ◽  
The Mean ◽  
Hospital Days ◽  
The Impact

Aspirated foreign bodies (FBs) may remain undetected and cause serious complications. As part of a postgraduate educational program, results of a local survey were presented to the local medical staff in order to increase its awareness of this diagnostic possibility. The present study was carried out in order to evaluate the management of children with tracheobronchial FBs during two 2-year periods, before and after teaching sessions held in December 1976. In comparison with the previous two years during the 1977-1978 period, the percentage of cases in which a positive history of aspiration was obtained increased from 47.6% to 84.0%; the mean number of hospitalizations due to tracheobronchial FBs decreased from 1.9 to 1.04 per infant, and the mean number of hospital days required for final diagnosis decreased from 17.6 to 5.3. The postgraduate educational program had a positive effect on physician performance and patient care.

Abstract TP41: Prevalence and Factors Associated with Early Ischemic Changes on Non-contrast CT Obtained Less Than 90 Minutes After Symptom Onset

Stroke ◽  
2017 ◽  
Vol 48 (suppl_1) ◽  
Author(s):  
Jared Noroozi ◽  
David S Liebeskind ◽  
Jeffrey L Saver ◽  
Sidney Starkman ◽  
Juan Pablo Villablanca ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Cerebral Ischemia ◽  
Symptom Onset ◽  
Clinical Information ◽  
Final Diagnosis ◽  
Factors Associated ◽  
History Of ◽  
Artery Disease ◽  
Initial Imaging ◽  
Contrast Ct

Background: Usually early infarct signs on imaging take a few hours to develop in ischemic stroke. There may be a subset of patients manifesting early infarct signs on imaging hyperacutely. Objective: To determine the prevalence and factors associated with very early infarct signs on ASPECTS among patients with cerebral ischemia who were imaged <90 minutes after symptom onset. Methods: Subjects participating in the NIH Field Administration of Stroke Therapy- Magnesium (FAST-MAG) phase 3 clinical trial with a final diagnosis of cerebral ischemia (TIA or Stroke) and initial imaging performed <90 minutes from last known well time (LKWT) were included. ASPECTS was graded by a neuroradiologist (JPV) blinded to all clinical information. Individual subjects were characterized as having no early ischemic changes (ASPECTS 10) vs. early ischemic changes (ASPECTS 0-9). We describe the prevalence of early ischemic signs in this prospectively enrolled cohort, clinical factors associated with early ischemic changes as well as outcomes. Results: There were 566 cases imaged a mean of 71 (SD 11) minutes after LKWT. Mean age was 69 (SD 13), 43% women, 93% ischemic stroke, 7% TIA, median emergency department NIHSS 8 (IQR 3-16), median ASPECTS score of 10 (IQR 7-10, range 1-10). There were 200 cases with early ischemic findings (35%). Early ischemic changes were not related to age, blood pressure, history of hypertension, diabetes, dyslipidemia, coronary artery disease, or time to imaging (71 vs. 71 mins). Early ischemic changes were more commonly noted in women (50% vs. 39%, p=0.015) and associated higher presenting NIHSS (14 [IQR 7-20] vs 5 [IQR 2-11], p<0.001). The presence of any hyperacute ischemia change was associate with worse 90-day outcome (modified Rankin score 3 [IQR 1-5] vs 1 [IQR 0-3, p<0.001). Conclusions: Early ischemic changes were noted on about 1/3 rd of imaging obtained <90 minutes after symptom onset. The presence of hyperacute ischemic changes is associated with more severe stroke and poor clinical outcomes.

Abstract 14767: Thrombolysis of Stroke Mimics via Telestroke

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Ravyn Howell ◽  
Randheer S Yadav ◽  
Sushil Lakhani ◽  
Sharon Heaton ◽  
Karen L Wiles ◽  
...  
Keyword(s):  
Final Diagnosis ◽  
National Institutes Of Health ◽  
Factitious Disorder ◽  
Emergency Rooms ◽  
Stroke Mimics ◽  
Intravenous Tissue Plasminogen Activator ◽  
Stroke Diagnosis ◽  
History Of ◽  
Stroke Mimic ◽  
Similar Episode

Introduction: Telestroke allows stroke expertise for thrombolysis decision making remotely using high-quality bidirectional audiovisual technology. Hypothesis: Intravenous tissue plasminogen activator (IVtPA) is administered via telestroke network to a proportion of patients without a stroke diagnosis (i.e. stroke mimic) Methods: Our academic comprehensive stroke program telestroke program includes 26 spoke Emergency rooms (ERs) through which IVtPA is administered throughout central Ohio. From July 1, 2016 to Sept 30, 2017, nearly all patients who received IVtPA at the outside hospital telestroke ERs were transferred to our institution for post-IVtPA care. Data was collected on final diagnosis, demographics, National Institutes of Health Stroke Scale (NIHSS), door to needle (DTN) time, and outcomes. Results: Among 270 acute ischemic stroke patients who received IVtPA via telestroke, we identified 64 (23.7%) with a stroke mimic diagnosis. Stroke mimics were younger (mean age 56.4 vs 68.2, p <0.0001), more likely female (60.9% vs 45.6%, p 0.03), and had higher DTN times (85.3 vs 69.9 minutes, p 0.0008). The increase in DTN was due to longer time to recommend by the telestroke neurologist for stroke mimic (65.0 vs 53.2 minutes, p 0.0034). The stroke mimic diagnosis included Migraine 26 (40.6%), Factitious disorder 12 (18.8%), Encephalopathy 7 (10.9%), and Unmasking 6 (9.4%). The stroke mimics did not differ from each other based upon initial NIHSS, DTN, or sex. Compared to the other stroke mimics, Migraine and Factitious disorder patients were younger (51.2 vs 63.9 years, p <0.0006), more likely to have a personal history of migraines (42.1% vs 0%, p < 0.0001), and more likely to have functional exam findings (42.1% vs 3.8%, p 0.0007). There were no hemorrhagic complications in the stroke mimic patients. Among all stroke mimics, 26 (40.6%) had a history of similar prior episodes and 10 (15.6%) would have future recurrence of another similar episode, with 2 patients receiving IVtPA again in the future (1 Migraine and 1 Factitious disorder). Conclusions: In a tertiary academic telestroke network, nearly one-quarter of patients receive IVtPA for a non-stroke diagnosis, with migraine and factitious disorder being the most commonly seen.

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