Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening

Luskin, Marlise R.; Discenza, Marie; Easter, Sarah Rae; Cin, Paola Dal; Owen, Renius; Ilagan, Bernard J.; Masiello, Meredith; Lane, Andrew A.

doi:10.1182/bloodadvances.2017008680

Cited by 4 publications

(5 citation statements)

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“…Three cases had abnormalities involving chromosome 7, four cases had a deletion of ETV6 and three cases had loss of RB1 . Although gain of RUNX1 signals has historically been used to define iAMP21‐ALL, the variable common region of gain of chromosome 21 encompasses over 40 genes including ERG 9 and amplification of ERG has been previously described in cases of iAMP21‐ALL 23–25 . ERG is a proto‐oncogenic transcription factor that is involved in cell cycle development and regulation.…”

Section: Discussionmentioning

confidence: 99%

“…Although gain of RUNX1 signals has historically been used to define iAMP21-ALL, the variable common region of gain of chromosome 21 encompasses over 40 genes including ERG 9 and amplification of ERG has been previously described in cases of iAMP21-ALL. [23][24][25] ERG is a proto-oncogenic transcription factor that is involved in cell cycle development and regulation. As RUNX1 does not appear to be the oncogenic driver of iAMP21-ALL, 7 additional studies are warranted to evaluate whether ERG is a potential driver of iAMP21-ALL.…”

Section: Genomic Complexity Of Unusual Iamp21-allmentioning

confidence: 99%

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Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Koleilat

Smadbeck

Zepeda

et al. 2022

Genes Chromosomes & Cancer

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Acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21-ALL) represents a recurrent high-risk cytogenetic abnormality and accurate identification is critical for appropriate clinical management. Identification of iAMP21-ALL has historically relied on fluorescence in situ hybridization (FISH) using a RUNX1 probe. Current classification requires ≥ five copies of RUNX1 per cell and ≥ three additional copies of RUNX1 on a single abnormal iAMP21-chromosome.We sought to evaluate the performance of the RUNX1 probe in the identification of iAMP21-ALL. This study was a retrospective evaluation of iAMP21-ALL in the Mayo Clinic and Children's Oncology Group cohorts. Of 207 cases of iAMP21-ALL, 188 (91%) were classified as "typical" iAMP21-ALL, while 19 (9%) cases were classified as "unusual" iAMP21-ALL. The "unusual" iAMP21 cases did not meet the current definition of iAMP21 by FISH but were confirmed to have iAMP21 by chromosomal microarray. Half of the "unusual" iAMP21-ALL cases had less than five RUNX1 signals, while the remainder had ≥ five RUNX1 signals with some located apart from the abnormal iAMP21-chromosome. Nine percent of iAMP21-ALL cases fail to meet the The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.

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Section: Discussionmentioning

confidence: 99%

Section: Genomic Complexity Of Unusual Iamp21-allmentioning

confidence: 99%

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Koleilat

Smadbeck

Zepeda

et al. 2022

Genes Chromosomes & Cancer

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Section: Resultsmentioning

confidence: 99%

“…Of the 27 full articles screened, 13 articles were identified as relevant, presenting case reports of malignant disease in pregnant women with relation to aberrant NIPT results. [20][21][22][23][24][25][26][27][28][29][30][31][32] From these, 43 unique case reports of malignancy related to an unusual NIPT were found. Of the 13 articles, 10 were case reports, some of which were combined with literature reviews.…”

Section: Reviewmentioning

confidence: 99%

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

Moellgaard

Lund

Becher

et al. 2022

Clinical Case Reports

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We present a clinical case where a complex abnormal non-invasive prenatal test (NIPT) result in a research project revealed carcinoma of the breast in the pregnant woman. Furthermore, the NIPT result did not demonstrate the same fetal chromosomal aberration as the chorion villus sample. A literature search for similar cases was performed identifying 43 unique cases, where abnormal NIPT results were related to maternal malignancy. Malignancy is a rare but important cause of complex abnormal non-invasive prenatal test (NIPT) results and should be considered when fetal karyotype and abnormal NIPT results are discordant. Furthermore, a follow-up invasive sample is essential for correct fetal diagnosis when abnormal NIPT results are found.

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“…Reports on MLPA relevance in diagnostics are contradictory. A few publications considering application of MLPA in diagnostic setting of primary aberrations proved inferiority when compared with FISH assay that is undeniably standard method for detection of hyperdiploidy with chromosome 21 gain or ETV6-RUNX1 fusion, with just several methods, e.g., real-time PCR, karyotyping, and SNP array being appreciated aid (Sinclair et al 2011; Duployez et al 2015; Fuka et al 2015; Kim et al 2016; Luskin et al 2017). In contrary, different publications argue that MLPA match results with FISH, CISH array, and qPCR in cases with single-gene CNV detection (Benard-Slagter et al 2017).…”

Section: Discussionmentioning

confidence: 99%

MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL

et al. 2019

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Chromosome 21 abnormalities are the most frequent genetic findings in childhood B cell precursor acute lymphoblastic leukemia (BCP-ALL) cases. Majority of patients are effectively diagnosed with fluorescence in situ hybridization (FISH) and karyotyping; however, some cases may require additional tools to be used. Bone marrow samples of 373 childhood BCP-ALL patients were tested for chromosome 21 copy number variations (CNVs) with Multiplex Ligation-dependent Probe Amplification (MLPA) P327 array. Results from MLPA and cytogenetics were compared between groups according to the type of abnormality found on chromosome 21. Out the group of 235 patients, chromosome 21 multiplication was found by FISH assay in 56 cases (23.81%), ETV6-RUNX1 fusion in 34 (14.47%) and iAMP21 in 3 (1.28%) children, remaining 142 (60.43%) patients had no known chromosome 21 aberration. Median peak ratios of all tested probes in MLPA in aforementioned groups were 1.47 (IQR 1.28–1.77) vs. 1.00 (IQR 1.00–1.09) vs. 2.79 (IQR 1.97–2.83) vs. 1.00 (1.00–1.11), respectively. Aforementioned peak ratio of ETV6-RUNX1 fusion group was similar with patients of no known chromosome 21 aberration (p = 0.71). Interestingly, both groups differed from patients with chromosome 21 multiplication (p < 10−5) and with iAMP21 (p < 10−5). All cases of iAMP21 were correctly recognized by MLPA. MLPA seems to be good additional tool in the diagnostic process of chromosome 21 CNVs, especially in cases with iAMP21.

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Maternal iAMP21 acute lymphoblastic leukemia detected on prenatal cell-free DNA genetic screening

Abstract: Key Points cfDNA sequencing for fetal aneuploidy may detect chromosomal abnormalities representative of maternal malignancy. Maternal malignancy must be considered when abnormal cfDNA sequencing for fetal aneuploidy is associated with normal fetal karyotype.

Cited by 4 publications

References 25 publications

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Characterization of unusual iAMP21 B‐lymphoblastic leukemia (iAMP21‐ALL) from the Mayo Clinic and Children's Oncology Group

Incidental finding of maternal malignancy in an unusual non‐invasive prenatal test and a review of similar cases

MLPA as a complementary tool for diagnosis of chromosome 21 aberrations in childhood BCP-ALL

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