Rare and novel RUNX1 fusions in myeloid neoplasms: A single-institute experience.

Chromosome translocations involving the RUNX1 gene at 21q22 are recurring abnormalities in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), that is, t(8;21) and t(3;21) and in B-cell acute lymphoblastic leukemia with t(12;21). These translocations result in the fusion of RUNX1 with RUNX1T1, MECOM, and ETV6, respectively, and are implicated in leukemogenesis. Here we describe 10 rare RUNX1 fusion gene partners, including six novel fusions, in myeloid neoplasia.

Cytogenetically normal acute myeloid leukemia with a novel KIT mutation in exon 11 G565V developing a sole trisomy 13 at relapse: a clinical dilemma.

We describe a patient with acute myeloid leukemia (AML) who had a normal karyotype at diagnosis and was negative for NPM1 and FLT3 mutations, but had a KIT G565V mutation in exon 11. This has not been described previously in AML. The patient received induction and consolidation chemotherapy and was in hematologic remission for 351 days when deletion 7q was cytogenetically detected in 8% of the bone marrow cells.

Should routine peripheral blood glucose testing be done for all newborns at birth?

Purpose: To determine the (1) incidence of peripheral blood glucose (PBG < 40 mg/dL) in infants within 2 hours of birth and (2) validity of using maternal and infant risk factors and/or infant signs/symptoms of hypoglycemia as a screen for PBG < 40 mg/dL.

Study Design: Descriptive study with a convenience sample of 220 mother-infant dyads admitted to a mother-baby unit. Maternal and infant risk factors and infant signs/symptoms of hypoglycemia were assessed, and a PBG value was obtained within 2 hours of birth from the infant.

Duplication and triplication of der(21)t(8;21)(q22;q22) in acute myeloid leukemia.

We report on two patients with complicons resulting in duplication der(21)t(8;21)(q22;q22), triplication in the form of isochromosome of der(21)t(8;21), and four copies of ETO-AML1 fusion. Duplication of der(21) was present at diagnosis as a minor cell population in one patient, while the presence of isoderivative (21)t(8;21) characterized the relapse cells of the second patient. Due to the rarity of these cases, literature search of other reported cases of complicons may be taken as evidence that duplication and triplication of ETO-AML1 may be a poor prognostic indicator, regardless of whether it is present at diagnosis or relapse.

Numerical gain and structural rearrangements of JAK2, identified by FISH, characterize both JAK2617V>F-positive and -negative patients with Ph-negative MPD, myelodysplasia, and B-lymphoid neoplasms.

Objective: Current evidence suggests that the JAK2617V>F point mutation is implicated in the pathogenesis of >90% of polycythemia vera (PV) patients, and in approximately 50% of primary myelofibrosis (PMF) and essential thrombocythemia patients. Novel JAK2 mutations were recently described in 5% to 15% of patients that are JAK2617V>F-negative. Additionally, JAK2 is reported to form fusion hybrids with three different genes.

Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected.

Between 1986 and 2001, 220 patients with polycythaemia vera (PV) were studied using conventional cytogenetics. Of 204 evaluable patients, 52 (25.4%) had clonal abnormalities.