Central Diabetes Insipidus

Surapolchai, Pacharapan; Ha, Shau Yin; Chan, Godfrey Chi-Fung; Lukito, Johannes Bondan; Wan, T. S. K.; So, Chi‐Chiu; Chiang, Alan Kwok Shing

doi:10.1097/mph.0b013e3182580d88

Cited by 4 publications

(1 citation statement)

References 16 publications

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“…Net loss of chromosomal material may be caused by loss of an entire chromosome (monosomy) [26, 27, 28], deletions of particular chromosomal segments [29] (Fig. 2E, F), unbalanced translocations (Fig.…”

Section: Conventional Cytogeneticsmentioning

confidence: 99%

Cancer Cytogenetics: Methodology Revisited

Wan

2014

Ann Lab Med

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The Philadelphia chromosome was the first genetic abnormality discovered in cancer (in 1960), and it was found to be consistently associated with CML. The description of the Philadelphia chromosome ushered in a new era in the field of cancer cytogenetics. Accumulating genetic data have been shown to be intimately associated with the diagnosis and prognosis of neoplasms; thus, karyotyping is now considered a mandatory investigation for all newly diagnosed leukemias. The development of FISH in the 1980s overcame many of the drawbacks of assessing the genetic alterations in cancer cells by karyotyping. Karyotyping of cancer cells remains the gold standard since it provides a global analysis of the abnormalities in the entire genome of a single cell. However, subsequent methodological advances in molecular cytogenetics based on the principle of FISH that were initiated in the early 1990s have greatly enhanced the efficiency and accuracy of karyotype analysis by marrying conventional cytogenetics with molecular technologies. In this review, the development, current utilization, and technical pitfalls of both the conventional and molecular cytogenetics approaches used for cancer diagnosis over the past five decades will be discussed.

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Section: Conventional Cytogeneticsmentioning

confidence: 99%

Cancer Cytogenetics: Methodology Revisited

Wan

2014

Ann Lab Med

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Venetoclax/decitabine for a pediatric patient with chronic myelomonocytic leukemia

Molina

Asare

Tuschong

et al. 2020

Pediatric Blood & Cancer

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Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome (MDS)/myeloproliferative disorder most commonly seen in the elderly. We describe an adolescent with monosomy 7 CMML presenting as central diabetes insipidus (DI), who was treated with venetoclax and decitabine as a bridge to hematopoietic stem cell transplantation (HSCT). Central DI is a rare manifestation of monosomy 7-associated MDS including CMML, itself a rare manifestation of GATA2 deficiency, particularly in children. Venetoclax/decitabine was effective for treatment of CMML as a bridge to HSCT. Chronic myelomonocytic leukemia (CMML) is a myelodysplastic syndrome (MDS)/myeloproliferative disorder most commonly seen in the elderly. 1,2 We describe an adolescent with GATA2 associated monosomy 7 CMML presenting as central diabetes insipidus (DI), who was Abbreviations: AML, acute myelogenous leukemia; CMML, chronic myelomonocytic leukemia; DDAVP, desmopressin; DI, diabetes insipidus; HSCT, hematopoietic stem cell transplantation; MDS, myelodysplastic syndrome; MRI, magnetic resonance imaging successfully treated with venetoclax and decitabine as a bridge to hematopoietic stem cell transplantation (HSCT). A 15-year-old adolescent male presented to the National Institutes of Health (NIH) for initial evaluation of GATA2 deficiency on the Natural History of GATA2 Deficiency Study (Clinicaltrials.gov NCT01905826) based on his mother and aunt's known diagnoses of GATA2 deficiency. His mother was successfully transplanted for MDS from a partially matched sibling 15 years earlier. Previous sequencing

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