Humpath.com - Human pathology

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• CD109

  14 September

  WKP
  CD109 is a co-receptor of TGF-β1 and suppresses TGF-β signaling.
  CD109 is a GPI-linked cell surface antigen expressed by CD34+ acute myeloid leukemia cell lines, T-cell lines, activated T lymphoblasts, endothelial cells, and activated platelets (Lin et al., 2002).
  In addition, the platelet-specific Gov antigen system, implicated in refractoriness to platelet transfusion, neonatal alloimmune thrombocytopenia, and posttransfusion purpura, is carried by CD109 (Kelton et al., 1990; Lin (...)

• IL-8

  14 September

  interleukin-8; interleukin 8
  Pathology
  risk of glioma Gliomas are aggressive tumors of the central nervous system that rely on production of growth factors for tumor progression. Interleukin 8 (IL-8) is up-regulated in gliomas to promote angiogenesis and proliferation. IL-8 -251 AA genotype and A allele were at a higher risk for glioma. (#26249370#)
  Open references
  Association between interleukin 8-251 T/A and +781 C/T polymorphisms and glioma risk. Liu H, Mao P, Xie C, Xie W, Wang (...)

• adenoma of the anal canal

  14 September

  Anal canal adenoma is an extremely rare disease that has the potential to transform into a malignant tumor. Reports underscore the importance of careful observations throughout colonoscopy to detect precancerous lesions, particularly in anatomically narrow segments.
  Open references
  Metachronous tubulovillous and tubular adenomas of the anal canal. Nozawa H, Ishihara S, Morikawa T, Tanaka J, Yasuda K, Ohtani K, Nishikawa T, Tanaka T, Kiyomatsu T, Kawai K, Hata K, Kazama S, Yamaguchi H, (...)

• heavy chain gene rearrangement detection

  14 September

  Open References
  Rapid detection of immunoglobulin heavy chain gene rearrangement by PCR and melting curve analysis using combined FR2 and FR3 primers. Xu D, Yang Z, Zhang D, Wu W, Guo Y, Chen Q, Xu D, Cui W. Diagn Pathol. 2015 Aug 9;10:140. doi:10.1186/s13000-015-0370-5 . PMID: #26255311# (Free)

• Genetics of paragangliomas

  9 September

  Until 2000, only 10% of PGLs were considered of genetic origin and linked to hereditary syndromes: von Hippel Lindau disease (VHL), multiple endocrine neoplasia type 2 (MEN2) and neurofibromatosis type 1 (NF1), due respectively to a germ line mutation in tumor-suppressor gene VHL, protooncogene RET and tumor-suppressor gene NF1.
  In the last years, it has been demonstrated that about 30% of the apparently sporadic PGLs are due to a germ-line mutation in one of the susceptibility genes. (...)

• chronic pulmonary aspergillosis

  9 September

  Chronic pulmonary aspergillosis (CPA) has been accepted the criteria for the diagnosis of pulmonary Aspergillus infection.
  Acute inflammatory exudate along the terminal respiratory tract is most significant pathophysiolocial complication of the CPA, caused to organizing pneumonia, which derives fatal respiratory failure. In addition, the viability of fungus does not concern extension of exudative inflammation at the site of erosion along terminal airway.
  Subtypes
  progressive chronic (...)

• NAB2

  9 September

  WKP
  Pathology
  fusion genes NAB2-STAT6 gene fusion in solitary fibrous tumor (SFT) (#26337721#)
  Open references
  A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion. Ichiyanagi O, Ito H, Takai S, Naito S, Kato T, Nagaoka A, Yamakawa M. Diagn Pathol. 2015 Sep 4;10(1):155. doi:10.1186/s13000-015-0386-x . PMID: #26337721# (Free)

• GRIA2

  9 September

  GRIA2 ; GLUR2; GLURB; GluA2; GluR-K2; HBGR2 WKP
  Expression in tumors
  A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion. (#26337721#)
  Open references
  A GRIA2 and PAX8-positive renal solitary fibrous tumor with NAB2-STAT6 gene fusion. Ichiyanagi O, Ito H, Takai S, Naito S, Kato T, Nagaoka A, Yamakawa M. Diagn Pathol. 2015 Sep 4;10(1):155. doi:10.1186/s13000-015-0386-x . PMID: #26337721# (...)

• NUT-associated carcinomas

  9 September

  Genetics
  These tumors are diffusely positive for p63 and NUT expression and are partially positive for various cytokeratins.
  Reverse transcription polymerase chain reaction analysis and subsequent direct sequencing reveal that the bromodomain-containing protein 4-NUT chimeric gene is present in tumor tissue of both patients, leading to a diagnosis of NMC.
  Types
  NUT-associated midline carcinoma
  NUT-associated pulmonary carcinoma
  Open References
  NUT expression in primary lung (...)

• NUMB

  6 September

  NUMB ; C14orf41; S171; c14_5527
  Protein numb homolog is a protein that in humans is encoded by the NUMB gene.
  The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms have been found for this gene.
  Pathology (...)

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