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

Ma, Hongbing; Yang, Jing; Xiang, Bing; Jia, Yong-Qian

doi:10.3892/ol.2015.3139

Cited by 6 publications

(6 citation statements)

References 20 publications

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“…Other proposed mechanisms include leukemic infiltration, hemorrhage, leukostasis of secondary vessels, autoimmune hypophysitis, and secondary infections. It is also possible that a combination of these mechanisms led to the development of CDI in her case (11). Our patient, similar to the 2 other patients with normal cytogenetics reported in the literature (8,9), had a robust response to dDAVP administration which allowed for improvement of her CDI symptoms.…”

Section: Discussionsupporting

confidence: 81%

Acute Myeloid Leukemia Associated Leukocytic Hypophysitis Presenting with Central Diabetes Insipidus

Levine

Pariser

Bloomgarden

2018

AACE Clinical Case Reports

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Objective: Central diabetes insipidus is a rare complication of acute myeloid leukemia and myelodysplastic syndrome. To date there are fewer than 100 cases reported in the literature, and no published case reports in the endocrinology literature. We report a case of myelodysplastic syndrome transformed to secondary acute myeloid leukemia that was complicated by central diabetes insipidus. Methods: We detail the course of a 65-year-old female who presented with central diabetes insipidus in the setting of acute myeloid leukemia. Results: The patient's central diabetes insipidus was successfully controlled with desmopressin. As her disease was treated, her central diabetes insipidus resolved. Conclusion: This case highlights an important association between acute myeloid leukemia, myelodysplastic syndrome, and central diabetes insipidus. To our knowledge, this is the first published case in the endocrinology literature of central diabetes insipidus secondary to acute myeloid leukemia. (AACE Clinical Case Rep. 2018;4:e518-e520) Abbreviations: AML = acute myeloid leukemia; CDI = central diabetes insipidus; dDAVP = desmopressin; MDS = myelodysplastic syndrome

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Section: Discussionsupporting

confidence: 81%

Acute Myeloid Leukemia Associated Leukocytic Hypophysitis Presenting with Central Diabetes Insipidus

Levine

Pariser

Bloomgarden

2018

AACE Clinical Case Reports

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“…In adult AML, controversial studies have underlined the heterogeneity of this cytogenetic group. 48 , 49 , 50 In our cohort, trisomy 8 was associated with very poor survival, but only if detected as the only cytogenetic aberration. Notably, 4 of 16 patients with trisomy 8 showed FLT3 mutations.…”

Section: Discussionmentioning

confidence: 54%

“…This karyotype seems to confer a very poor prognosis and may be associated with diabetes insipidus. 48 , 49 , 50 One patient in our cohort had this karyotype. He showed an exceedingly complicated course, never achieving CR and dying only 6 months after diagnosis.…”

Section: Discussionmentioning

confidence: 70%

Genotype-outcome correlations in pediatric AML: the impact of a monosomal karyotype in trial AML-BFM 2004

et al. 2017

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We conducted a cytogenetic analysis of 642 children with de novo acute myeloid leukemia (AML) treated on the AML-Berlin-Frankfurt-Münster (BFM) 04 protocol to determine the prognostic value of specific chromosomal aberrations including monosomal (MK+), complex (CK+) and hypodiploid (HK+) karyotypes, individually and in combination. Multivariate regression analysis identified in particular MK+ (n=22) as a new independent risk factor for poor event-free survival (EFS 23±9% vs 53±2% for all other patients, P=0.0003), even after exclusion of four patients with monosomy 7 (EFS 28±11%, P=0.0081). CK+ patients without MK had a better prognosis (n=47, EFS 47±8%, P=0.46) than those with MK+ (n=12, EFS 25±13%, P=0.024). HK+ (n=37, EFS 44±8% for total cohort, P=0.3) influenced outcome only when t(8;21) patients were excluded (remaining n=16, EFS 9±8%, P<0.0001). An extremely poor outcome was observed for MK+/HK+ patients (n=10, EFS 10±10%, P<0.0001). Finally, isolated trisomy 8 was also associated with low EFS (n=16, EFS 25±11%, P=0.0091). In conclusion, monosomal karyotype is a strong and independent predictor for high-risk pediatric AML. In addition, isolated trisomy 8 and hypodiploidy without t(8;21) coincide with dismal outcome. These results have important implications for risk stratification and should be further validated in independent pediatric cohorts.

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“…It encodes a 1051 amino acid that serves as a transcription factor. Overexpression of this factor is postulated to result in low levels of ADH . It also has direct implications for abnormal megakaryopoeisis, and given that 90% of ADH is bound to platelets, alteration in platelet number and quality could affect ADH levels or function.…”

Section: Discussionmentioning

confidence: 99%

“…Overexpression of this factor is postulated to result in low levels of ADH. 12 It also has direct implications for abnormal megakaryopoeisis, 13 and given that 90% of ADH is bound to platelets, alteration in platelet number and quality could affect ADH levels or function. Keung described five cases of AML with inv(3)(q21.3q26.2) in consecutive cytogenetic studies of AML and myelodysplastic syndromes, two cases presented as sole abnormalities and three cases were associated with monosomy 7.…”

Section: Discussionmentioning

confidence: 99%

Acute myeloid leukaemia presenting with diabetes insipidus

Bardin

Ritchie

McLachlan

et al. 2019

Internal Medicine Journal

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A 41‐year‐old man was diagnosed with hypogonadotropic hypogonadism managed with gonadotropins after routine fertility review. Eight months later he presented with new polydipsia and polyuria, lethargy and easy bruising. A full blood count showed 28% circulating blasts. A bone marrow biopsy confirmed a diagnosis of acute myeloid leukaemia with inv(3)(q21.3q26.2) with additional monosomy 7. Central diabetes insipidus (DI) was diagnosed following a water deprivation test. Pituitary magnetic resonance imaging showed a slightly thickened pituitary stalk, stable Rathke’s cyst, and new absence of the pituitary bright spot. The patient was commenced on desmopressin and induction chemotherapy, subsequently requiring a bone marrow transplant. Bone marrow examination at 100 days post‐transplant revealed cytogenetic remission. All symptoms of DI resolved and magnetic resonance imaging showed return of the posterior bright spot and a pituitary stalk of normal thickness. Biochemical hypogonadotropic hypogonadism persisted but was uninterpretable in the context of systemic illness and recent chemotherapy. DI is a rare complication of haematological malignancies, and the prevalence and pathophysiology of DI in this context are poorly understood. Pathogenic mechanisms proposed include leukaemic infiltration of the pituitary, interference with antidiuretic hormone synthesis, and abnormal thrombopoiesis influencing hormone levels. Particular cytogenetic abnormalities such as inv(3)(q21.3q26.2) and monosomy 7 appear to be more commonly associated with DI and also appear to confer worse outcomes. Aetiologies in the literature remain elusive but as DI is a recognised association of haematological malignancies it should be considered in a patient presenting with polydipsia and polyuria.

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

Cited by 6 publications

References 20 publications

Acute Myeloid Leukemia Associated Leukocytic Hypophysitis Presenting with Central Diabetes Insipidus

Acute Myeloid Leukemia Associated Leukocytic Hypophysitis Presenting with Central Diabetes Insipidus

Genotype-outcome correlations in pediatric AML: the impact of a monosomal karyotype in trial AML-BFM 2004

Acute myeloid leukaemia presenting with diabetes insipidus

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