Acute myeloid leukemia and diabetes insipidus with monosomy 7

Harb, Antoine; Tan, Wenfeng; Wilding, Gregory E.; Battiwalla, Minoo; Sait, Sheila N.J.; Wang, Eunice S.; Wetzler, Meir

doi:10.1016/j.cancergencyto.2009.01.006

Cited by 23 publications

(18 citation statements)

References 30 publications

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“…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). However, this does not explain why DI-AML patients without 3q alterations exhibit aberrations in ADH levels or function.…”

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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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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“…The presence of monosomy 7, a novel finding, was identified in our case by the SNP-A-based analysis. Harb et al (2009) have found that the outcomes of patients with AML with monosomy 7 and DI was significantly worse than those of patients with monosomy 7 but without DI.…”

mentioning

confidence: 99%

“…This abnormality may lead to increased susceptibility to infection and may be associated with DI, as it impairs the migratory and chemotactic functions of neutrophils (Keung et al 2002;Harb et al 2009;Cull et al 2014). The altered glycosylation of neutrophils and possibly thrombocytes may directly affect ADH release by influencing the modulation of pre-pro-vasopressin into active ADH.…”

mentioning

confidence: 99%

Diabetes Insipidus as an Initial Presentation of Myelodysplastic Syndrome: Diagnosis with Single-Nucleotide Polymorphism Array-Based Karyotyping

Sun

Wang

Zhong

et al. 2016

Tohoku J. Exp. Med.

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Myelodysplastic syndrome (MDS) is a group of clonal hematopoietic diseases characterized by cytopenia, dysplasia and increased risk of development to acute myeloid leukemia (AML). Unfavorable cytogenetic changes such as complex karyotypes or chromosome 7 anomalies are predictive of the progression to AML and poor prognosis. Central diabetes insipidus (CDI) is the result of a deficiency of arginine vasopressin, and its major causes are idiopathic, primary or secondary tumors, neurosurgery and trauma. Importantly, CDI is a rare complication of MDS. To date, only 5 cases of MDS co-occurring with CDI have been reported; 3 of 5 had cytogenetic abnormalities uncovered by metaphase cytogenetics and 3 of 5 evolved to AML. Here, we describe a 74-year-old woman who presented with CDI as her initial symptom of MDS and eventually progressed to AML. The metaphase cytogenetics, combined with the single-nucleotide polymorphism array (SNP-A)-based karyotyping, with superiority in resolution and detecting copy number variation, revealed a complex karyotype that included monosomy of chromosome 7, deletion of 20q, and absence of heterogeneity (AOH) in more than one chromosome. To the best of our knowledge, this is the first case report of MDS co-occurring with CDI with numerous cytogenetic abnormalities revealed by the SNP-A-based karyotyping. Our case supports that the cytogenetic abnormalities may be associated with the clinical features and the prognosis of MDS co-occurring with CDI. The SNP-A-based karyotyping is helpful in revealing more subtle cytogenetic abnormalities and unveiling their roles in the pathogenesis of MDS.

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“…No DI central, existe diminuição dos níveis de hormônio antidiurético (ADH), enquanto no DI nefrogênico existe resistência à ação do hormônio em nível renal 1 . O envolvimento pituitário ocorre em 0,6% dos casos de leucemia mieloide aguda (LMA) [2][3][4][5] . Este relato descreve o caso de um paciente internado no centro de terapia intensiva (CTI) do Hospital de Clínicas de Porto Alegre (HCPA) cuja primeira manifestação da doença hematológica foi DI.…”

Section: Abstract: Diabetes Insipidus; Acute Myeloid Leukemia; Monosounclassified

Diabetes insipidus como manifestação inicial de leucemia mieloide aguda em paciente com monossomia do cromossomo 7

Morais¹,

Girardi²,

Riegel³

et al. 2017

Clin. Biomed. Res.

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Acute myeloid leukemia and diabetes insipidus with monosomy 7

Cited by 23 publications

References 30 publications

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

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

Diabetes Insipidus as an Initial Presentation of Myelodysplastic Syndrome: Diagnosis with Single-Nucleotide Polymorphism Array-Based Karyotyping

Diabetes insipidus como manifestação inicial de leucemia mieloide aguda em paciente com monossomia do cromossomo 7

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