Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder

Mastocytosis: a mutated KIT receptor induced myeloproliferative disorder

Although more than 90% systemic mastocytosis (SM) patients express gain of function mutations in the KIT receptor, recent next generation sequencing has revealed the presence of several additional genetic and epigenetic mutations in a subset of these patients, which confer poor prognosis and inferior overall survival. A clear understanding of how genetic and epigenetic mutations cooperate in re...

Myeloproliferative disorder of rats induced by myeloproliferative sarcoma virus.

The pathogenesis of myeloproliferative disorder remains unknown, but there have been some experiments on murine myeloproliferative sarcoma induced by certain viruses. Myeloproliferative sarcoma virus which is well known among such viruses, causes myeloproliferative disorder in mice and today's work will reveal tumorigenicity of this virus in rats. Two groups of Jar-2 rats (31 young rats and 28 ...

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...

Systemic Mastocytosis: An Intriguing Disorder

Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation

Mastocytosis is a rare neoplastic disease characterized by a pathologic accumulation of tissue mast cells (MCs). Mastocytosis is often associated with a somatic point mutation in the Kit protooncogene leading to an Asp/Val substitution at position 816 in the kinase domain of this receptor. The contribution of this mutation to mastocytosis development remains unclear. In addition, the clinical h...