Diabetes insipidus as first manifestation of acute myeloid leukaemia with EVI‐1‐positive, 3q21q26 syndrome and T cell‐line antigen expression: what is the EVI‐1 gene role?

Breccia, Massimo; Petti, Maria Concetta; Ottaviani, Emanuela; Mancini, Marco; D’Elia, Gianna Maria; Mecarocci, Sergio; Alimena, Giuliana

doi:10.1046/j.1365-2141.2002.03727.x

Cited by 22 publications

(12 citation statements)

References 8 publications

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“…Hematological malignancies with central DI usually take poor clinical outcomes. It is partially because these cases frequently carry specific chromosomal abnormalities such as À7/7qÀ or translocations involving 3q21 and 3q26 regions, although their causal relation to central DI has not yet been elucidated [1,[4][5][6][7][8][9][10][11][12]. In our case, the cytogenetic analysis at leukemic transformation showed normal karyotype, which possibly provided a better response to chemotherapy.…”

Section: Discussionmentioning

confidence: 70%

Myelodysplastic syndrome with central diabetes insipidus manifesting hypodipsic hypernatremia and dehydration

Nakamura¹,

Kishimoto²,

Handa³

et al. 2004

American J Hematol

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Central diabetes insipidus (DI) is a rare but recognized complication of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) that is caused by leukemic infiltration to the hypothalamo-neurohypophyseal system. In rare patients in whom a wide region of the hypothalamus is involved, central DI results in hypodipsic hypernatremia and dehydration. Typical DI symptoms such as polydipsia, polyuria, and marked thirst are concealed in these cases, because the hypothalamic ''thirst center'' cannot send thirst stimuli to the cerebral cortex. Herein we describe a patient with MDS developing into AML, who presented with hypodipsic hypernatremia and dehydration. A diagnosis of central DI was made on the ground of a low level of serum anti-diuretic hormone (ADH) despite high serum osmolality. A magnetic resonance imaging study revealed attenuation of a physiological ''bright spot'' of the neurohypophysis. An induction course chemotherapy including regular-dose cytarabine and daunorubicin produced a rapid improvement of hypernatremia. The bone marrow aspirate after two courses of chemotherapy showed complete remission. At that point, ADH release and the ''bright spot'' were recovered. In order to correctly diagnose central DI in association with hematological malignancies, we should not overlook this atypical type of DI. Am.

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Section: Discussionmentioning

confidence: 70%

Myelodysplastic syndrome with central diabetes insipidus manifesting hypodipsic hypernatremia and dehydration

Nakamura¹,

Kishimoto²,

Handa³

et al. 2004

American J Hematol

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“…EVI1 + was detected in 21/23 AML patients with inv(3)/t(3;3) and in 33/38 AML patients with monosomy 7. The role of EVI1 remains unclear; however, inappropriate EVI1 activation, in combination with other undefined genetic alterations, are hypothesized to result in low levels of antidiuretic hormone (ADH) (18). As ~90% of circulating ADH is associated with platelets, it is postulated that platelet ADH originates in the hypothalamus and that chromosome 3 abnormalities are associated with dysthrombopoiesis, which may result in alterations in ADH levels or function (7,19,20).…”

Section: Discussionmentioning

confidence: 99%

“…The finding of the aforementioned studies indicate that monosomy 7q alterations may be a common 'chromosomal determinant' for DI-AML onset. DI-AML patients with 3q aberrations have a number of common characteristics, including age (29-52 years), normal or high platelet count, hyperleukocytosis, trilineage myelodysplasia, no central nervous system involvement, failure to respond to first-line treatment or early relapse, and poor prognosis (17,18). These features are termed 3q21q26 syndrome.…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukemia with monosomy 7, ectopic virus integration site-1 overexpression and central diabetes insipidus: A case report

Ma¹,

Yang²,

Xiang³

et al. 2015

Oncology Letters

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Abstract. Central diabetes insipidus (DI) is a rare complication in patients with acute myeloid leukemia (AML), typically occurring in patients with abnormalities of chromosomes 3 or 7. The association between AML with monosomy 7 and DI has been described in a number of studies; however, DI has been rarely reported in cases of ectopic virus integration site-1 (EVI1)-positive AML with monosomy 7. The current study reports a case of AML with monosomy 7 and EVI1 overexpression, with central DI as the initial symptom. The patient was an 18-year-old female who presented with polyuria and polydipsia. Bone marrow aspiration revealed 83.5% myeloperoxidase-positive blasts without trilineage myelodysplasia. The karyotype was 45,XX,-7, and the patient presented monosomy 7 and EVI1 overexpression (-7/EVI1 + ) without 3q aberration. Treatment with induction therapy was unsuccessful. To the best of our knowledge, this is the second case of DI-AML with -7/EVI1 + and without a 3q aberration. The possible mechanisms associated with EVI1, monosomy 7 and DI were investigated.

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“…There is substantial homology between the genes mutated and identified by proviral tagging in mouse AML and those implicated in the human disease [100][101][102][103][104][105][106][107][108] as exemplified in the following cases. Firstly, the AML1(Cbfa2, Runx1, Pebp2aB) 84 oncogene targeted by chromosomal translocation t (8;21), in approximately 12% of AML cases, 109 has been shown to play a vital role in the regulatory expression of many genes involved in haematopoietic cell development.…”

Section: Mulv Models Of Amlmentioning

confidence: 99%

Animal models of acute myelogenous leukaemia – development, application and future perspectives

2005

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From the early inception of the transplant models through to contemporary genetic and xenograft models, evolution of murine leukaemic model systems have been critical to our general comprehension and treatment of cancer, and, more specifically, disease states such as acute myelogenous leukaemia (AML). However, even with modern advances in therapeutics and molecular diagnostics, the majority of AML patients die from their disease. Thus, in the absence of definitive in vitro models which precisely recapitulate the in vivo setting of human AMLs and failure of significant numbers of new drugs late in clinical trials, it is essential that murine AML models are developed to exploit more specific, targeted therapeutics. While various model systems are described and discussed in the literature from initial transplant models such as BNML and spontaneous murine leukaemia virus models, to the more definitive genetic and clinically significant NOD/SCID xenograft models, there exists no single compendium which directly assesses, reviews or compares the relevance of these models. Thus, the function of this article is to provide clinicians and experimentalists a chronological, comprehensive appraisal of all AML model systems, critical discussion on the elucidation of their roles in our understanding of AML and consideration to their efficacy in the development of AML chemotherapeutics.

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Diabetes insipidus as first manifestation of acute myeloid leukaemia with EVI‐1‐positive, 3q21q26 syndrome and T cell‐line antigen expression: what is the EVI‐1 gene role?

Cited by 22 publications

References 8 publications

Myelodysplastic syndrome with central diabetes insipidus manifesting hypodipsic hypernatremia and dehydration

Myelodysplastic syndrome with central diabetes insipidus manifesting hypodipsic hypernatremia and dehydration

Acute myeloid leukemia with monosomy 7, ectopic virus integration site-1 overexpression and central diabetes insipidus: A case report

Animal models of acute myelogenous leukaemia – development, application and future perspectives

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