Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026986 (myelodysplastic syndrome)
 14,926 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 31-yr-old woman with myelodysplastic syndrome (MDS) in transformation to acute myeloid leukemia (AML) presented with initial symptoms of polyuria and polydipsia. Cytogenetics revealed monosomy 7 and translocation (3;3)(q21;q26). The initial symptoms, in conjunction with a low serum level of anti-diuretic hormone (ADH) and magnetic resonance imaging (MRI) findings demonstrating loss of the "bright spot" of the neurohypophysis, indicated diabetes insipidus (DI), e.g. caused by leukemic infiltration of the neurohypophysis. After induction chemotherapy the patient's bone marrow revealed blast persistence, and following a second course of chemotherapy and normalisation of MRI, an allogeneic peripheral blood stem cell transplantation (PBSCT) from the patient's HLA-identical brother was performed, resulting in ongoing complete remission. Recently, Lavabre-Bertrand et al. reported an association of AML with DI, elevated platelet counts, and monosomy 7 and chromosome 3 abnormalities in three patients (Eur. J. Haematol. 2001: 66: 66-69). Our report of an MDS with trilineage dysplasia and these karyotypic changes associated with DI indicates that this new entity may also include preleukemic cases.
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PMID:Myelodysplastic syndrome in transformation to acute myeloid leukemia presenting with diabetes insipidus: due to pituitary infiltration association with abnormalities of chromosomes 3 and 7. 1236 17

A 45-year-old male was diagnosed as having myelodysplastic syndrome (RAEB) in March 2001. He was admitted to our hospital because of cellulitis in his left lower limb in May. The blood cell count showed pancytopenia and immature myeloid cells were seen in the peripheral blood. Bone marrow aspiration showed the proliferation of myeloblasts (11.2%) and complex karyotypic abnormalities were detected including the long arm deletion of chromosome 7. The patient developed polyuria and polydipsia after admission and was diagnosed as having central diabetes insipidus. He was treated with DDAVP and the polyuria disappeared. In November, he underwent unrelated allogeneic bone marrow transplantation after conditioning with total body irradiation and cytarabine. After transplantation DDAVP was no longer required. Central diabetes insipidus has been reported as a rare complication of leukemia or myelodysplastic syndrome, but the underlying mechanism remains unclear. The complete remission of diabetes insipidus after bone marrow transplantation suggests that the infiltration of leukemic cells into the pituitary gland caused the diabetes insipidus in this case.
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PMID:[Improvement of diabetes insipidus after allogeneic bone marrow transplantation in a patient with myelodysplastic syndrome]. 1282 6

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.
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PMID:Myelodysplastic syndrome with central diabetes insipidus manifesting hypodipsic hypernatremia and dehydration. 1505 12

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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PMID:Acute myeloid leukemia with monosomy 7, ectopic virus integration site-1 overexpression and central diabetes insipidus: A case report. 2613 90