Genetic lesions disrupting calreticulin 3′-untranslated region in JAK2 mutation-negative polycythemia vera

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Diabetes insipidus as first manifestation of acute myeloid leukemia with EVI-positive t(3;3)(q21;q26) and monosomy 7: a non random association.

Two cases of acute myeloid leukaemia (AML) with CD2 and CD7 expression associated with diabetes insipidus (DI) as the initial symptom are presented. Both patients had t(3;3)(q21;q26) associated with monosomy 7 and EVI-1 overexpression. No neurohypophysis infiltration was evident. One patient died during induction chemotherapy, the other did not respond to therapy and died with persistent DI. Our findings further support the existence of a distinct AML entity characterized by the presence of DI, abnormalities of chromosome 3q, dysmegakaryopoiesis and poor outcome, and provide evidence of EVI-1 gene involvement. The possible role of chromosome 3q26 abnormalities in determining this peculiar clinical-biological association is emphasized

Ogilvie’s syndrome in acute myeloid leukemia: pharmacological approach with neostigmine.

Acute colonic pseudo-obstruction, the so-called Ogilvie's syndrome, is a rare and life-threatening digestive complication usually observed in critically ill patients. It is characterized by signs of large-bowel obstruction, without a mechanical cause, and has been reported in various settings, including acute leukemias as a complication of neutropenic enterocolitis after intensive chemotherapy. We describe the case of a young woman who, during the neutropenic phase following autologous bone marrow transplantation for relapsed acute myeloid leukemia, developed neutropenic enterocolitis complicated by an acute pseudo-obstruction of descendent colon and sigma. This process was associated with sepsis and resolved with conservative therapy of the underlying condition, using granulocyte colony-stimulating factor and intravenous neostigmine. We discuss the management of this rare syndrome

Plasma amino acid concentrations in patients with acute myelogenous leukemia

Changes in plasma-free amino acid (PFAA) concentrations in the presence of solid tumors have been widely described. Conversely, the PFAA profile in patients with acute leukemias is less well defined. The aim of the present study was to clarify whether the PFAA profile is altered in patients with acute myeloid leukemia (AML), whether the profile differs from the PFAA profile of solid tumors, and whether it may predict outcome of AML. Fasting PFAA were measured in 40 untreated, normally nourished patients with AML (17 males, 23 females), ages 22-78 y, with white blood cell (WBC) counts ranging from 1.08 to 276.5 x 10 3/cm 2, and in 24 healthy volunteers. Plasma concentrations (μmol/L, mean ± SE) of glutamic acid (GLU), free tryptophan (FTRP), ornithine (ORN), and glycine (GLY) were significantly higher in AML (GLU: 90.2 ± 6.1 versus 37 ± 8; FTRP: 7.0 ± 0.6 versus 4.8 ± 0.3, P < 0.005; ORN: 108.7 ± 5.8 versus 78 ± 6, P < 0.001; GLY: 295.0 ± 14.8 versus 239 ± 9, P < 0.01), whereas serine (SER), methionine (MET), and taurine (TAU) were significantly lower in AML than in controls (SER: 109.0 ± 5.8 versus 130 ± 4, P < 0.03; MET: 25.5 ± 1.3 versus 33 ± 3, P < 0.03; TAU: 46.5 ± 3.5 versus 81 ± 2, P < 0.001), and tended to be even lower in patients who had not responded to chemotherapy or had relapsed within 18 mo of enrollment. Such changes were unrelated to age, sex, and WBC count. Changes in PFAA that occur in AML are only in part similar to those observed in solid tumors. The reduction of TAU appears to be a typical feature of AML and might be secondary to the deficiency of its precursors SER and MET. Further studies are under way aimed at clarifying whether PFAA might predict prognosis in AML, whether PFAA is normalized by remission induction, and if its correction may be of any benefit for patients with hematologic malignancies