Recurrent alterations of TNFAIP3 (A20) in T-cell large granular lymphocytic leukemia.

The pathogenesis of T-cell large granular lymphocytic leukemia (T-LGL) is poorly understood, as STAT3 mutations are the only known frequent genetic lesions. Here, we identified non-synonymous alterations in the TNFAIP3 tumor suppressor gene in 3 of 39 T-LGL. In two cases these were somatic mutations, in one case the somatic origin was likely.

[Clarithromycin therapy of a B cell MALT lymphoma].

Presentation of a 34-year-old patient with a conjunctival tumor of the left upper circumference of the eyeball clinically presenting as a salmon-pink colored conjunctival tumor. The incisional biopsy and immunohistochemical work-up revealed an extranodal conjunctival mucosa-associated lymphoid tissue (MALT) lymphoma of the marginal zone B cell type. The therapy comprised a currently experimental therapy scheme with 500 mg clarithromycin 3 times per day for 21 days.

Characterization of a newly identified ETV6-NTRK3 fusion transcript in acute myeloid leukemia.

Background: Characterization of novel fusion genes in acute leukemia is important for gaining information about leukemia genesis. We describe the characterization of a new ETV6 fusion gene in acute myeloid leukemia (AML) FAB M0 as a result of an uncommon translocation involving chromosomes 12 and 15.

Methods: The ETV6 locus at 12p13 was shown to be translocated and to constitute the 5' end of the fusion product by ETV6 break apart fluorescence in situ hybridisation (FISH).