Mutations of SATB2 (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant SATB2-associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism. In this Chinese Han family, single nucleotide polymorphism array identified a 4.9-kb deletion in the SATB2 gene in two consecutive siblings exhibiting obvious
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Join Facebook to connect with Pathology Outlines and others you may know. Facebook gives people the power to share and makes the world more open and connected. Diagnostic Pathology: Open Access, International Journal of Ophthalmic Pathology, Cardiovascular Pathobiology, Pathobiology, Pathobiology of Aging & Age Related Diseases, Histopathology, Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology. Pathobiology. 5 hours ago Pathology Outlines - Special AT-rich sequence-binding protein 2 (SATB2) Stains & molecular markers. Special AT-rich sequence-binding protein 2 (SATB2) Authors: Angela M.Y. Chan, M.Sc., Emeka Enwere, Ph.D.
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Pathology - Research and Practice (2021) 2017-01-24 · The SATB2 Gene Foundation, Inc. provides information sheets for patients and families, as well as for medical professionals. Unique – Rare Chromosome Disorder Support Group is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about SATB2-associated W. Glenn McCluggage, Koen Van de Vijver, SATB2 is Consistently Expressed in Squamous Morules Associated With Endometrioid Proliferative Lesions and in the Stroma of Atypical Polypoid Adenomyoma, International Journal of Gynecological Pathology, 10.1097/PGP.0000000000000544, 38, 5, (397-403), (2019). SATB2-associated syndrome (SAS) is caused by changes in the SATB2 gene. This gene is on chromosome 2 at position q33.1 and makes a protein called SATB2. The SATB2 protein works as a transcription factor for some other genes.
SATB2 is a 733 amino-acid homeodomain-containing human protein with a molecular weight of 82.5 kDa encoded by the SATB2 gene on 2q33. The protein contains two degenerate homeodomain regions known as CUT domains (amino acid 352–437 and 482–560) and a classical homeodomain (amino acid 614–677).
Mostly working in hospitals and medical centers, pathologists use laboratory tools to run tests to check specimens for the presence of disease and also perform research work. Please note that Pathology no longer accepts single case studies involving DNA mutations. Correspondence Correspondence will be subject to Editorial Board review in the first instance and will be sent for external review if required.
+/− muscle outlines with swelling and loss or blurring of normal fat planes. IHC:SATB2 and AKP are positive, TP53 alteration and MDM2 amplification
30100 Telegraph Road, Suite 408, Bingham Farms, Michigan 48025 (USA) SATB2 is commonly expressed in osteosarcomas. Although apparently being a valuable diagnostic marker for differentiating between small cell osteosarcoma (SCO) and other small round cell tumors of A three marker panel of SATB2, CK20 and CDX2 used on liver biopsy samples is valuable when assessing g a CRC origin. Liver metastasis is the leading cause of cancer-related morbidity and mortality in colorectal cancer (CRC) patients. Web: mayocliniclabs.com: Email: mcl@mayo.edu: Telephone: 800-533-1710: International: +1 855-379-3115: Values are valid only on day of printing. SATB2 is commonly expressed in osteosarcomas.
The aim of this study was to investigate the diagnostic potential of SATB2 as a means of detecting a CRC origin for liver metastases.
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Bone: AE1/AE3 BCOR brachyury CD99 DUX4 ERG EWSR1 FLI1 H3F3A (G34W) (pending) MDM2 S100 SATB2 SOX9 Muscle nontumor: acid phosphatase alkaline phosphatase ATPases (pending) COX Gomori trichrome (pending) myophosphorylase (pending) NADH-TR (pending) nonspecific esterase Oil Red O PAS phosphofructokinase (pending) SDH (pending) SATB2 was recently reported to have high sensitivity and specificity as a marker of colorectal adenocarcinoma. However, there are limited available data on expression of SATB2 in specific subgroups. Like CDX2, SATB2 is also expressed in a subset of upper gastrointestinal adenocarcinomas (ADCAs) but rarely expressed in pancreatobiliary ADCAs. SATB2 is commonly expressed in osteosarcomas. Although apparently being a valuable diagnostic marker for differentiating between small cell osteosarcoma (SCO) and other small round cell tumors of bone, for instance Ewing sarcoma family of tumors (ESFT), it has not been tested in a large series of ESFT and chondrosarcomas so far.
Correspondence Correspondence will be subject to Editorial Board review in the first instance and will be sent for external review if required. The title must be short and there should be no summary, keywords or subheadings. 2018-04-28 · varicose vein histology pathology outlines Posted on April 28, 2018 by cludmoch86mler Many vegetables have more sugar than people realize, making them suitable for dessert, whether it’s at a top restaurant or on your home table. Apr 13, 2018 6.
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Anatomic Pathology 2015 Yamaguchi Human Pathology 2011;42:419-423 osseous differentiation. SATB2. BORDERLINE PHYLLODES TUMOR
The SATB2-associated syndrome (SAS) was proposed recently, after the SATB2 gene was initially discovered to be associated with isolated cleft palate. This syndrome is characterized by intellectual disability with delayed speech development, facial dysmorphism, cleft or high-arched palate, and dentit … Satb2-associated syndrome (SAS) is a genetic disorder that results from the deletion or mutation of one allele within the Satb2 locus. Patients with SAS show behavioral abnormalities, including developmental delay/intellectual disability, hyperactivity, and symptoms of autism. To address the role of Satb2 in SAS-related behaviors and generate an SAS mouse model, Satb2 was deleted in the cortex Mutations of SATB2 (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant SATB2-associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism.