Somatic D816V KIT mutation in a case of adult-onset familial mastocytosis.

نویسندگان

  • Roberta Zanotti
  • Livio Simioni
  • Andres C Garcia-Montero
  • Omar Perbellini
  • Patrizia Bonadonna
  • Beatrice Caruso
  • Maria Jara-Acevedo
  • Massimiliano Bonifacio
  • Giovanna De Matteis
چکیده

Rank # Genes Highest OR (L95-U95) Smallest P-value # Genes Highest OR (L95-U95) Smallest P-value # Genes Highest OR (L95-U95) Smallest P-value 1 IRAK1 0.70 (0.55-0.90) 0.006 IRAK1 0.73 (0.54-0.99) 0.042 IRAK1 0.50 (0.28-0.86) 0.013 2 MKK3 1.28 (1.10-1.50) 0.002 IRAKM 0.53 (0.31-0.90) 0.019 SIGIRR 0.54 (0.35-0.85) 0.008 3 ERK2 1.22 (1.05-1.42) 0.010 RIP1 1.49 (1.04-2.12) 0.012 TRAF6 0.65 (0.46-0.90) 0.009 4 IKBKE 0.68 (0.51-0.91) 0.010 JNK2 0.78 (0.65-0.94) 0.010 MKK6 2.29 (1.23-4.25) 0.009 5 Mek1 1.33 (1.00-1.76) 0.025 MKK6 0.55 (0.31-0.95) 0.029 TAB2 0.63 (0.46-0.86) 0.004 6 TOLLIP 0.82 (0.70-0.96) 0.009 MKK3 1.27 (1.05-1.53) 0.014 IRAK4 0.42 (0.20-0.89) 0.024 7 JNK2 1.42 (1.07-1.87) 0.014 IL1RL1 0.79 (0.65-0.96) 0.015 MyD88 2.07 (1.10-3.90) 0.024 8 SIGIRR 0.77 (0.62-0.95) 0.014 IRF7 0.74 (0.56-0.98) 0.029 IKBKE 1.47 (1.08-1.98) 0.013 9 TAB2 0.82 (0.70-0.95) 0.009 NFKB1 0.61 (0.39-0.97) 0.034 RIP1 1.85 (1.05-3.25) 0.034 10 TAB1 0.83 (0.71-0.97) 0.022 TIRAP 1.65 (1.01-2.69) 0.045 TRAM1 1.75 (1.02-3.01) 0.043 11 AKT1 0.77 (0.61-0.98) 0.030 IRF3 0.76 (0.59-0.98) 0.031 P38 1.67 (1.03-2.72) 0.039 12 IRF3 0.79 (0.64-0.97) 0.026 Mek1 1.25 (1.02-1.53) 0.032 JNK1 1.60 (1.03-2.48) 0.038 13 IRAKM 1.24 (1.04-1.47) 0.015 AKT1 1.25 (1.01-1.55) 0.037 JNK2 1.51 (1.04-2.20) 0.030 14 RIP1 1.38 (1.03-1.84) 0.029 AP1 0.68 (0.46-1.00) 0.049 15 TAK1 1.30 (1.03-1.64) 0.026 16 TRAM1 1.37 (1.01-1.86) 0.045 17 NFKB1 0.68 (0.47-1.00) 0.048 18 IL1RL1 0.84 (0.72-0.99) 0.031 19 MKK4 1.25 (1.00-1.55) 0.047

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Acute myeloid leukaemia with t(8;21) associated with "occult" mastocytosis. Report of an unusual case and review of the literature.

Approximately 20% of patients with systemic mastocytosis (SM) have an associated haematological, clonal, non-mast cell lineage disease, and most exhibit an associated myelogenous neoplasm. This report describes a 48 year old man with acute myeloid leukaemia (AML) and a type t(8;21) cytogenetic abnormality. Associated bone marrow mastocytosis (a defined subtype of SM) was only detected after suc...

متن کامل

A germline mutation in KIT in familial diffuse cutaneous mastocytosis.

M astocytosis (MIM 154800) is a group of rare disorders which have in common an abnormal accumulation of mast cells in specific organs, including gastrointestinal tract, bone marrow, liver, spleen, lymph nodes, and skin, which is the most frequently affected organ. Based on the pattern of involvement, cutaneous mastocytosis (CM) is classified into solitary mastocytoma, urticaria pigmentosa, tel...

متن کامل

Clonal analysis of NRAS activating mutations in KIT-D816V systemic mastocytosis.

Cooperating genetic events are likely to contribute to the phenotypic diversity of KIT-D816V systemic mastocytosis. In this study, 44 patients with KIT-D816V systemic mastocytosis were evaluated for coexisting NRAS, KRAS, HRAS or MRAS mutations. Activating NRAS mutations were identified in 2 of 8 patients with advanced disease. NRAS mutations were not found in patients with indolent systemic ma...

متن کامل

The Kit-activating mutation D816V enhances stem cell factor--dependent chemotaxis.

The D816V mutation of c-kit has been detected in patients with mastocytosis. This mutation leads to constitutive tyrosine kinase activation of Kit. Because stem cell factor (SCF), the ligand for Kit (CD117(+)), is a chemoattractant for CD117(+) cells and one feature of mastocytosis is an abnormal collection of mast cells in tissues derived from CD34(+)CD117(+) mast cell precursors, the hypothes...

متن کامل

Solitary mastocytoma presenting in an adult: report and literature review of adult-onset solitary cutaneous mastocytoma with recommendations for evaluation and treatment

BACKGROUND Mastocytosis is either cutaneous (with skin-limited proliferation of mast cells) or systemic (with mast cells in extracutaneous sites). The onset of solitary mastocytoma in an adult is rare. PURPOSE A woman with the new onset of solitary mastocytoma is described. The clinical features of patients with adult-onset solitary mastocytoma are summarized. Recommendations for the evaluati...

متن کامل

Ponatinib induces apoptosis in imatinib-resistant human mast cells by dephosphorylating mutant D816V KIT and silencing β-catenin signaling.

Gain-of-function mutations of membrane receptor tyrosine kinase KIT, especially gatekeeper D816V point mutation in KIT, render kinase autoactivation, disease progression, and poor prognosis. D816V KIT is found in approximately 80% of the patients with systemic mastocytosis, and is resistant to the first and second generations of tyrosine kinase inhibitors (TKI). The purpose of this investigatio...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • The Journal of allergy and clinical immunology

دوره 131 2  شماره 

صفحات  -

تاریخ انتشار 2013