Clinical significance of acquired loss of the X chromosome in bone marrow

Tang, Zhenya; Li, Yan; Wang, Sa A.; Hu, Shimin; Li, Shaoying; Lu, Xinyan; Khoury, Joseph D.; Medeiros, L. Jeffrey; Tang, Guilin

doi:10.1016/j.leukres.2016.05.023

Cited by 9 publications

(9 citation statements)

References 19 publications

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“…Loss of chromosome X is also occasionally detected in BM. In an earlier study by our group, −X as a sole abnormality was detected in BM in <0.1% of female patients but not in male patients; the median age of patients with −X was 71 years (range, 40‐85 years). In this study, combined morphologic and FISH analysis showed that chromosome X loss was not only detected in myeloid/erythroid cells but also in lymphocytes (in 15 of 16 patients tested).…”

Section: Ccaus Could Be Age‐relatedmentioning

confidence: 67%

How I investigate Clonal cytogenetic abnormalities of undetermined significance

Tang

Medeiros

Wang

2018

Int J Lab Hematology

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Myelodysplastic syndromes are a group of hematopoietic stem cell diseases characterized by cytopenia(s), morphological dysplasia, and clonal hematopoiesis. In some patients, the cause of cytopenia(s) is uncertain, even after thorough clinical and laboratory evaluation. Evidence of clonal hematopoiesis has been used to support a diagnosis of myelodysplastic syndrome in this setting. In patients with cytopenia(s), the presence of clonal cytogenetic abnormalities, except for +8, del(20q) and -Y, can serve as presumptive evidence of myelodysplastic syndrome. Recent advances in next-generation sequencing have detected myeloid neoplasm-related mutations in patients who do not meet the diagnostic criteria for myelodysplastic syndrome. Various terms have been adopted to describe these cases, including clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of undetermined significance (CCUS). Similarly, studies have shown that certain chromosomal abnormalities, including ones commonly detected in myelodysplastic syndrome, may not be associated necessarily with an underlying myelodysplastic syndrome. These clonal cytogenetic abnormalities of undetermined significance (CCAUS) are similar to CHIP and CCUS. Here, we review the features of CCAUS, distinguishing CCAUS from clonal cytogenetic abnormalities associated with myelodysplastic syndrome, and the potential impact of CCAUS on patient management.

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Section: Ccaus Could Be Age‐relatedmentioning

confidence: 67%

How I investigate Clonal cytogenetic abnormalities of undetermined significance

Tang

Medeiros

Wang

2018

Int J Lab Hematology

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“…Exome‐sequencing studies point to an inactivation of both ATRX copies through mutation or chromosome X inactivation . The mechanism for X chromosome losses is likely due to premature centromere division leading to anaphase lag and elimination in micronuclei . Curiously, it was reported that patients with Turner syndrome, characterized by partial or complete loss of an X chromosome, are predisposed to the development of NB and other embryonic tumors .…”

Section: Discussionmentioning

confidence: 99%

Loss of whole chromosome X predicts prognosis of neuroblastoma patients with numerical genomic profile

Parodi

Pistorio

Erminio

et al. 2019

Pediatric Blood & Cancer

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Background Neuroblastoma (NB), a pediatric tumor of the sympathetic nervous system, is characterized by very frequent chromosomal aberrations at the onset of the disease. Identification of further risk factors for relapse, which could lead to increased survival and potentially reduced late effects among survivors, is still urgently needed. Segmental chromosome aberrations (SCA) are associated with poor prognosis, whereas numerical whole‐chromosome aberrations (NCA) are found in patients with a good prognosis; however, a small percentage of the latter patients (10%–15%) subsequently relapse and/or die of disease. Procedure DNA copy‐number data from 174 NB patients with an NCA genomic profile were analyzed. Association between NCA and event‐free survival (EFS) was investigated by the Kaplan–Meier estimator and prognostic decision tree (DT). Results DT identified 65 patients with normal chromosome X and an excellent five‐year EFS (100%) independently from the stage at diagnosis. The association between poor EFS and whole chromosome X alterations was confirmed after stratification into two groups of different expected prognosis and by internal validation via bootstrap analysis. Furthermore, the association was also observed in an independent cohort of NB patients extracted from the data set of the National Cancer Institute TARGET Project for Neuroblastoma, but sample size was small (n = 75) and statistical significance was not achieved. Conclusions Loss of whole chromosome X may represent a new prognostic marker for NB patients with an NCA genomic profile. If confirmed by further studies, this finding could indicate that such patients should be reclassified as intermediate risk and treated accordingly.

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“…Conventional chromosome analysis was performed on G‐banded metaphases prepared from unstimulated 24‐ and 48‐hour BM aspirate cultures with standard techniques . The results were reported with the 2016 International System for Human Cytogenetics Nomenclature as described previously .…”

Section: Methodsmentioning

confidence: 99%

“…Conventional chromosome analysis was performed on G-banded metaphases prepared from unstimulated 24-and 48-hour BM aspirate cultures with standard techniques. 11 The results were reported with the 2016 International System for Human Cytogenetics Nomenclature as described previously. 12 For patients with CML for whom BM biopsy was essential or helpful, the karyotype was stratified into groups with favorable, neutral, or poor cytogenetic risk according to findings reported previously.…”

Section: Molecular and Cytogenetic Studiesmentioning

confidence: 99%

Bone marrow core biopsy in 508 consecutive patients with chronic myeloid leukemia: Assessment of potential value

Hidalgo-Lόpez

Kanagal‐Shamanna

Quesada

et al. 2018

Cancer

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BACKGROUND The diagnosis of chronic myeloid leukemia (CML) is based on characteristic clinical and laboratory findings and the presence of BCR/ABL1 in the blood and/or bone marrow (BM). The utility of BM core biopsy in the workup of patients with CML has been questioned. METHODS The potential added value of BM biopsy versus aspiration in the workup of a single‐institution series of 508 patients with CML at their initial presentation was systematically assessed. BM biopsy was considered essential when it was needed to establish the disease phase, often because blast counts derived from aspirate smears were misleading because the biopsy specimen was more representative of the disease. BM biopsy was considered helpful if it was needed for other nonessential reasons. RESULTS In 127 patients (25%), BM biopsy was either essential (109 patients) or helpful (18 patients). Patients with accelerated‐phase (AP) or blast‐phase (BP) disease often required a biopsy related to essential reasons. High‐grade myelofibrosis (MF) was more frequent in patients with AP/BP disease than patients with chronic‐phase disease (P = .0005), and the identification of BP disease required a BM biopsy assessment in 75% of the patients (P = .001). A follow‐up BM evaluation more often yielded inadequate aspirates in patients with inadequate BM aspirates at the time of their initial diagnosis. CONCLUSIONS BM core biopsy remains valuable in the workup of 25% of patients with CML because it facilitates identification of the disease phase or MF. The initial grade of MF is associated with the disease stage and outcome after therapy. BM biopsy is, therefore, indicated for patients with CML who have AP/BP disease or other findings suggestive of progressive disease.

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Clinical significance of acquired loss of the X chromosome in bone marrow

Cited by 9 publications

References 19 publications

How I investigate Clonal cytogenetic abnormalities of undetermined significance

How I investigate Clonal cytogenetic abnormalities of undetermined significance

Loss of whole chromosome X predicts prognosis of neuroblastoma patients with numerical genomic profile

Bone marrow core biopsy in 508 consecutive patients with chronic myeloid leukemia: Assessment of potential value

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