Systemic mastocytosis in a patient with Cowden syndrome

American Journal of Hematology

Volumn 89, Issue 12, 2014, Pages 1154-1154

  Tantravahi, Srinivas K ^a   Schumacher, Jonathan ^b   Burt, Randall W ^a   Kelley, Todd W ^c   Deininger, Michael W N ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

^c ARUP LABORATORIES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CD2 ANTIGEN; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6; PTEN PROTEIN, HUMAN; STEM CELL FACTOR RECEPTOR;

ABDOMINAL PAIN; ADULT; BONE MARROW BIOPSY; BREAST TUMOR; CASE REPORT; COLON BIOPSY; COLON POLYP; CONSTIPATION; COWDEN SYNDROME; DIARRHEA; ENDOMETRIUM CANCER; ENDOSCOPIC SURGERY; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; INDOLENT SYSTEMIC MASTOCYTOSIS; LAMINA PROPRIA; LETTER; LOW BACK PAIN; MACROCEPHALY; MAST CELL; MICRODISSECTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PAPILLOMA; PATIENT HISTORY OF HYSTERECTOMY; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SPINDLE CELL; TRICHILEMMOMA; YOUNG ADULT; COMPLICATION; CONGENITAL TUMOR; GENETICS; GERMLINE MUTATION; HETEROZYGOTE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; SYSTEMIC MASTOCYTOSIS;

BASE SEQUENCE; FEMALE; GERM-LINE MUTATION; HAMARTOMA SYNDROME, MULTIPLE; HETEROZYGOTE; HUMANS; MAST CELLS; MASTOCYTOSIS, SYSTEMIC; MOLECULAR SEQUENCE DATA; PROTO-ONCOGENE PROTEINS C-KIT; PTEN PHOSPHOHYDROLASE; YOUNG ADULT;

EID: 84922393091     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23815     Document Type: Letter

References (6)

1. Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 1997;16:64-67.
2. Stambolic V, Suzuki A, de la Pompa JL, et al. Negative regulation of PKB/Akt-dependent cell survival by the tumor suppressor PTEN. Cell 1998;95:29-39.
3. Zhou XP, Waite KA, Pilarski R, et al. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet 2003;73:404-411.
4. Valent P. Mastocytosis: A paradigmatic example of a rare disease with complex biology and pathology. Am J Cancer Res 2013;3:159-172.
5. Chian R, Young S, Danilkovitch-Miagkova A, et al. Phosphatidylinositol 3 kinase contributes to the transformation of hematopoietic cells by the D816V c-Kit mutant. Blood 2001;98:1365-1373.
6. Furumoto Y, Charles N, Olivera A, et al. PTEN deficiency in mast cells causes a mastocytosis-like proliferative disease that heightens allergic responses and vascular permeability. Blood 2011;118:5466-5475.