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MDS, MDS/MPN and MPN Tables: Recurrent Genomic Alterations Detected by Chromosomal Microarray (view source)
Revision as of 16:47, 30 April 2020
, 16:47, 30 April 2020no edit summary
|<ref>Afable MG, 2nd, Wlodarski M, Makishima H, Shaik M, Sekeres MA, Tiu RV, et al. SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes. Blood 2011;117:6876-84.[https://www.ncbi.nlm.nih.gov/pubmed/21527527]</ref><ref name=":26" /><ref>Betensky M, Babushok D, Roth JJ, Mason PJ, Biegel JA, Busse TM, et al. Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. Cancer Genet 2016;209:1-10.[https://www.ncbi.nlm.nih.gov/pubmed/26702937]</ref>
|<ref>Afable MG, 2nd, Wlodarski M, Makishima H, Shaik M, Sekeres MA, Tiu RV, et al. SNP array-based karyotyping: differences and similarities between aplastic anemia and hypocellular myelodysplastic syndromes. Blood 2011;117:6876-84.[https://www.ncbi.nlm.nih.gov/pubmed/21527527]</ref><ref name=":26" /><ref>Betensky M, Babushok D, Roth JJ, Mason PJ, Biegel JA, Busse TM, et al. Clonal evolution and clinical significance of copy number neutral loss of heterozygosity of chromosome arm 6p in acquired aplastic anemia. Cancer Genet 2016;209:1-10.[https://www.ncbi.nlm.nih.gov/pubmed/26702937]</ref>
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AA, Aplastic anemia; BMFS, Bone Marrow Failure Syndrome; MDS, Myelodysplastic Syndrome; MDS/MPN, Myelodysplastic/ myeloproliferative Neoplasm; MPN, Myeloproliferative Neoplasm; CML, Chronic Myelogeneous Leukemia; sAML, secondary AML; TGA, Total genomic aberration; TKI, tyrosine kinase inhibitors.
∗Recurrent indicates recurrent aberration with no established prognostic significance
'''Table 2.''' A comprehensive list of CNAs and CN-LOH of known or likely clinical significance in MDS detected by CMA testing
'''Table 2.''' A comprehensive list of CNAs and CN-LOH of known or likely clinical significance in MDS detected by CMA testing
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Legend: d- diagnostic significance; P-prognostic significance; T- therapeutic significance. Recurrent indicates recurrent aberration with no established prognostic significance.
∗ Clinical significance based on WHO classification using IPSS-R (Greenberg et al., Blood 2012; Schanz et al., J Clin Oncol 2011).
∗∗ Isolated trisomy 8 or del(20q) are not diagnostic of MDS in the absence of morphologic findings of disease.
∗∗∗ Potential marker for responsiveness to hypomethylating agents or DNA methyltransferase inhibitors (Bejar et al., Blood 124:2705–12, 2014;Traina et al., Leukemia 28:78–87, 2014).
'''Table 3. ''' A comprehensive list of CNAs and CN-LOH of known or likely clinical significance in MDS/MPN detected by CMA testing
'''Table 3. ''' A comprehensive list of CNAs and CN-LOH of known or likely clinical significance in MDS/MPN detected by CMA testing
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Legend: d- diagnostic significance; P-prognostic significance; T- therapeutic significance.
Recurrent indicates recurrent aberration with no established significance.
∗ Clinical significance based on International MDS/MPN Working Group recommendations [10]; No NCCN guidelines available. Low risk (normal, isolated –Y), Intermediate (others), High risk (+8, abnormal 7, complex).
∗∗ Potential marker for responsiveness to hypomethylating agents or DNA methyltransferase inhibitors [68,71].
∗∗∗ Haploinsufficiency of 17p as part of an isolated isochromosome may be a distinct disease entity with further increased risk of AML progression relative to 17p loss in a complex karyotype.
'''Table 4.''' A comprehensive list of CNAs and CN-LOH of known or likely clinical significance in MPN detected by CMA testing
'''Table 4.''' A comprehensive list of CNAs and CN-LOH of known or likely clinical significance in MPN detected by CMA testing
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Legend: d- diagnostic significance; P-prognostic significance; T- therapeutic significance.
Recurrent indicates recurrent aberration with no established significance.
∗ Clinical significance based on NCCN guidelines<ref>{{Cite journal|last=Mesa|first=Ruben A.|last2=Jamieson|first2=Catriona|last3=Bhatia|first3=Ravi|last4=Deininger|first4=Michael W.|last5=Fletcher|first5=Christopher D.|last6=Gerds|first6=Aaron T.|last7=Gojo|first7=Ivana|last8=Gotlib|first8=Jason|last9=Gundabolu|first9=Krishna|date=2017|title=NCCN Guidelines Insights: Myeloproliferative Neoplasms, Version 2.2018|url=https://www.ncbi.nlm.nih.gov/pubmed/28982745|journal=Journal of the National Comprehensive Cancer Network: JNCCN|volume=15|issue=10|pages=1193–1207|doi=10.6004/jnccn.2017.0157|issn=1540-1413|pmid=28982745}}</ref>; For myelofibrosis, unfavorable [complex karyotype or sole or two abnormalities that include inv(3), 5/5q-, 7/7q-,+8, 11q23 rearrangement, 12p-, and (17q)]
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