Human pathology

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SLC2A1

1p35-p31.3

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GLUT1 in infantile hemangioma GLUT1 in infantile hemangioma
GLUT1

GLUT1 is an erythrocyte-type glucose transporter protein that is highly expressed by endothelia in brain (but not most peripheral)microvasculature, and by tumor cells in many epithelial malignancies.

GLUT1 is expressed by endothelial cells in juvenile hemangiomas and VHL-associated hemangioblastomas.

Pathology

- mutations in GLUT1 deficiency

Expression in normal cells

- red cells
- placental chorionic villi
- perineurial cells

Expression in tumors

- infantile hemangioma (10665907)
- VHL-associated hemangioblastomas (7595657)
- GLUT1+ hepatic infantile hemangioma (HIH)
- sclerosing perineurioma
- intraneural perineurioma (15086844)

References

- Hernandez F, Navarro M, Encinas JL, Lopez Gutierrez JC, Lopez Santamaria M, Leal N, Martinez L, Patron M, Tovar JA. The role of GLUT1 immunostaining in the diagnosis and classification of liver vascular tumors in children. J Pediatr Surg. 2005 May;40(5):801-4. PMID: 15937818

- North PE, Mizeracki A, Mihm MC Jr, Mrak RE.GLUT1 immunoreaction patterns reliably distinguish hemangioblastoma from metastatic renal cell carcinoma.Clin Neuropathol. 2000 May-Jun;19(3):131-7. PMID: 14606586

- North PE, Waner M, Mizeracki A, Mihm MC Jr. GLUT1: a newly discovered immunohistochemical marker for juvenile hemangiomas. Hum Pathol. 2000 Jan;31(1):11-22. PMID: 10665907

- Tsukamoto H, Boado RJ, Pardridge WM.Differential expression in glioblastoma multiforme and cerebral hemangioblastoma of cytoplasmic proteins that bind two different domains within the 3?-untranslated region of the human glucose transporter 1 (GLUT1) messenger RNA.J Clin Invest. 1996 Jun 15;97(12):2823-32. PMID: 8675694

- Cornford EM, Hyman S, Black KL, Cornford ME, Vinters HV, Pardridge WM.High expression of the Glut1 glucose transporter in human brain hemangioblastoma endothelium.J Neuropathol Exp Neurol. 1995 Nov;54(6):842-51. PMID: 7595657

P.S.

MIM.138140