Diabetes insipidus in a child with a monosomy‐7 associated myelodysplastic syndrome and neurofibromatosis I

Kollen, Wouter J.W.; Ball, Lynne M.; Snijder, P P; Zelderen‐Bhola, Shama L. van; Egeler, R. Maarten

doi:10.1002/mpo.10158

Cited by 6 publications

(8 citation statements)

References 16 publications

(6 reference statements)

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“…The altered glycosylation of neutrophils and possibly thrombocytes may directly affect ADH release by influencing the modulation of pre-pro-vasopressin into active ADH. Different glycosylation of neutrophils and thrombocytes may also lead to competition at the level of ADH receptors, which contain predicted sites for glycosylation (Kollen et al 2003). The presence of monosomy 7, a novel finding, was identified in our case by the SNP-A-based analysis.…”

mentioning

confidence: 58%

“…Although DI in AML patients has been recognized since the 1980s, DI as the only presenting symptom of MDS has rarely been reported. To the best of our knowledge, only 5 cases of MDS with DI have been reported (Keung et al 2002;Kollen et AOH, absence of heterogeneity; RARS, refractory anemia with ring sideroblasts; RAEB-T, refractory anemia with excess blasts in transformation; sAML, secondary AML; RCMD, refractory cytopenia with multilineage dysplasia; UPD, uniparental disomy.…”

Section: Discussionmentioning

confidence: 99%

“…After detailed evaluation, a diagnosis of myelodysplastic syndrome (MDS) with CDI was established. Only 5 MDS cases with CDI have been reported in the literature to date (Keung et al 2002;Kollen et al 2003;Nakamura et al 2004;Sano et al 2010;Chuang et al 2015). To our knowl-edge, ours is the first reported case of newly diagnosed MDS presenting as CDI with numerous cytogenetic abnormalities revealed by single-nucleotide polymorphism array (SNP-A)-based karyotyping.…”

Section: Introductionmentioning

confidence: 85%

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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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confidence: 58%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 85%

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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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“…MDS associated with DI has rarely been reported. To our knowledge, only five MDS cases with CDI have been reported till now [ 4 , 6 , 7 , 9 , 10 ]. The reported DI-MDS cases are summarized in Table 2 .…”

Section: Discussionmentioning

confidence: 99%

Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review

et al. 2021

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Background Central diabetes insipidus (CDI) is a rare complication of myelodysplastic syndrome (MDS). Although the cytogenetic features of patients with MDS and CDI are not clear, CDI in patients with acute myeloid leukemia (AML) is associated with chromosome 7 and/or 3 anomalies. Case presentation In this report, we describe two patients with MDS and concurrent CDI, and in one of them, CDI was the first manifestation. One patient had monosomy 7 on metaphase cytogenetics (MC). Monosomy 7 and numerous cytogenetic abnormalities were found in the other patient using single-nucleotide polymorphism array (SNP-A) karyotyping, while the MC did not uncover monosomy 7. In this manuscript we also reviewed reported cases of MDS with diabetes insipidus (DI-MDS) to summarize the relationship between DI-MDS and karyotype, and explore the best treatment strategy for DI-MDS. Conclusions DI-MDS is closely related to monosomy 7. Allogeneic hematopoietic stem cell transplantation may be the only effective treatment for DI-MDS. The SNP-A-based karyotyping is helpful to reveal subtle cytogenetic abnormalities and unveil their roles in the clinical features of MDS.

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“…10 Review of the English literature of pediatric myeloid malignancies and DI yielded 9 cases (Table 1). [11][12][13][14][15][16][17][18][19] Seven of these patients (78%) had DI at diagnosis of AML/MDS. Cytogenetic data were available in 4 patients, of whom 7 and/or inversion of chromosome 3 was most commonly detected.…”

Section: Discussionmentioning

confidence: 99%

Central Diabetes Insipidus

Surapolchai

Ha²,

Chan³

et al. 2013

Journal of Pediatric Hematology/Oncology

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Central diabetes insipidus (DI) is well-documented as a presenting feature of myelodysplastic syndrome and acute myeloid leukemia in adults. However, DI is unusual in pediatric patients with myeloid malignancies. We report here this rare complication in a child with neurofibromatosis type 1 who developed juvenile myelomonocytic leukemia and monosomy 7. Our case and previously reported cases of DI arising as a complication in myeloid malignancies demonstrate a close association with deletion of chromosome 7. The clinical characteristics and outcomes of these uncommon cases in children are reviewed and discussed.

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Diabetes insipidus in a child with a monosomy‐7 associated myelodysplastic syndrome and neurofibromatosis I

Cited by 6 publications

References 16 publications

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

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

Myelodysplastic syndrome presenting with central diabetes insipidus is associated with monosomy 7, visible or hidden: report of two cases and literature review

Central Diabetes Insipidus

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