Conventional karyotyping and fluorescence in situ hybridization: an effective utilization strategy in diagnostic adult acute myeloid leukemia

Rong He, Anne E. Wiktor, Curtis A. Hanson, Rhett P. Ketterling, Paul J. Kurtin, Daniel L. Van Dyke, Mark R Litzow, Matthew H. Howard, Kaaren K. Reichard

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

OBJECTIVES: Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities. The aim of this study was to compare the utility of karyotyping and FISH in adult AML.

METHODS: We studied 250 adult AML cases with concurrent karyotyping and FISH testing. Karyotyping was considered adequate when 20 or more metaphases were analyzed.

RESULTS: In total, 220 cases had adequate karyotyping and were classified as normal karyotype/normal FISH (n = 92), normal karyotype/abnormal FISH (n = 4), abnormal karyotype/normal FISH (n = 8), and abnormal karyotype/abnormal FISH (n = 116). The overall karyotype/FISH concordance rate was 97.7% with five discordant cases identified, four from the normal karyotype/abnormal FISH group and one from the abnormal karyotype/abnormal FISH group. No karyotype/FISH discordance was seen in the abnormal karyotype/normal FISH group for the FISH probes evaluated. FISH lent prognostic information in one (0.5%) of 220 cases with normal karyotype/abnormal FISH: CBFB-MYH11 fusion, indicating favorable prognosis.

CONCLUSIONS: In adult AML, FISH rarely provides additional information when karyotyping is adequate. We therefore propose an evidence-based, cost-effective algorithmic approach for routine conventional karyotype and FISH testing in adult AML workup.

Original languageEnglish (US)
Pages (from-to)873-878
Number of pages6
JournalAmerican Journal of Clinical Pathology
Volume143
Issue number6
DOIs
StatePublished - Jun 1 2015

Fingerprint

Karyotyping
Fluorescence In Situ Hybridization
Acute Myeloid Leukemia
Abnormal Karyotype
Karyotype

Keywords

  • Genetics
  • Hematology
  • Hematopathology
  • Molecular diagnostics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Conventional karyotyping and fluorescence in situ hybridization : an effective utilization strategy in diagnostic adult acute myeloid leukemia. / He, Rong; Wiktor, Anne E.; Hanson, Curtis A.; Ketterling, Rhett P.; Kurtin, Paul J.; Van Dyke, Daniel L.; Litzow, Mark R; Howard, Matthew H.; Reichard, Kaaren K.

In: American Journal of Clinical Pathology, Vol. 143, No. 6, 01.06.2015, p. 873-878.

Research output: Contribution to journalArticle

He, Rong ; Wiktor, Anne E. ; Hanson, Curtis A. ; Ketterling, Rhett P. ; Kurtin, Paul J. ; Van Dyke, Daniel L. ; Litzow, Mark R ; Howard, Matthew H. ; Reichard, Kaaren K. / Conventional karyotyping and fluorescence in situ hybridization : an effective utilization strategy in diagnostic adult acute myeloid leukemia. In: American Journal of Clinical Pathology. 2015 ; Vol. 143, No. 6. pp. 873-878.
@article{38741ca93f06474c92212ecacf8cb047,
title = "Conventional karyotyping and fluorescence in situ hybridization: an effective utilization strategy in diagnostic adult acute myeloid leukemia",
abstract = "OBJECTIVES: Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities. The aim of this study was to compare the utility of karyotyping and FISH in adult AML.METHODS: We studied 250 adult AML cases with concurrent karyotyping and FISH testing. Karyotyping was considered adequate when 20 or more metaphases were analyzed.RESULTS: In total, 220 cases had adequate karyotyping and were classified as normal karyotype/normal FISH (n = 92), normal karyotype/abnormal FISH (n = 4), abnormal karyotype/normal FISH (n = 8), and abnormal karyotype/abnormal FISH (n = 116). The overall karyotype/FISH concordance rate was 97.7{\%} with five discordant cases identified, four from the normal karyotype/abnormal FISH group and one from the abnormal karyotype/abnormal FISH group. No karyotype/FISH discordance was seen in the abnormal karyotype/normal FISH group for the FISH probes evaluated. FISH lent prognostic information in one (0.5{\%}) of 220 cases with normal karyotype/abnormal FISH: CBFB-MYH11 fusion, indicating favorable prognosis.CONCLUSIONS: In adult AML, FISH rarely provides additional information when karyotyping is adequate. We therefore propose an evidence-based, cost-effective algorithmic approach for routine conventional karyotype and FISH testing in adult AML workup.",
keywords = "Genetics, Hematology, Hematopathology, Molecular diagnostics",
author = "Rong He and Wiktor, {Anne E.} and Hanson, {Curtis A.} and Ketterling, {Rhett P.} and Kurtin, {Paul J.} and {Van Dyke}, {Daniel L.} and Litzow, {Mark R} and Howard, {Matthew H.} and Reichard, {Kaaren K.}",
year = "2015",
month = "6",
day = "1",
doi = "10.1309/AJCPP6LVMQG4LNCK",
language = "English (US)",
volume = "143",
pages = "873--878",
journal = "American Journal of Clinical Pathology",
issn = "0002-9173",
publisher = "American Society of Clinical Pathologists",
number = "6",

}

TY - JOUR

T1 - Conventional karyotyping and fluorescence in situ hybridization

T2 - an effective utilization strategy in diagnostic adult acute myeloid leukemia

AU - He, Rong

AU - Wiktor, Anne E.

AU - Hanson, Curtis A.

AU - Ketterling, Rhett P.

AU - Kurtin, Paul J.

AU - Van Dyke, Daniel L.

AU - Litzow, Mark R

AU - Howard, Matthew H.

AU - Reichard, Kaaren K.

PY - 2015/6/1

Y1 - 2015/6/1

N2 - OBJECTIVES: Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities. The aim of this study was to compare the utility of karyotyping and FISH in adult AML.METHODS: We studied 250 adult AML cases with concurrent karyotyping and FISH testing. Karyotyping was considered adequate when 20 or more metaphases were analyzed.RESULTS: In total, 220 cases had adequate karyotyping and were classified as normal karyotype/normal FISH (n = 92), normal karyotype/abnormal FISH (n = 4), abnormal karyotype/normal FISH (n = 8), and abnormal karyotype/abnormal FISH (n = 116). The overall karyotype/FISH concordance rate was 97.7% with five discordant cases identified, four from the normal karyotype/abnormal FISH group and one from the abnormal karyotype/abnormal FISH group. No karyotype/FISH discordance was seen in the abnormal karyotype/normal FISH group for the FISH probes evaluated. FISH lent prognostic information in one (0.5%) of 220 cases with normal karyotype/abnormal FISH: CBFB-MYH11 fusion, indicating favorable prognosis.CONCLUSIONS: In adult AML, FISH rarely provides additional information when karyotyping is adequate. We therefore propose an evidence-based, cost-effective algorithmic approach for routine conventional karyotype and FISH testing in adult AML workup.

AB - OBJECTIVES: Cytogenetics defines disease entities and predicts prognosis in acute myeloid leukemia (AML). Conventional karyotyping provides a comprehensive view of the genome, while fluorescence in situ hybridization (FISH) detects targeted abnormalities. The aim of this study was to compare the utility of karyotyping and FISH in adult AML.METHODS: We studied 250 adult AML cases with concurrent karyotyping and FISH testing. Karyotyping was considered adequate when 20 or more metaphases were analyzed.RESULTS: In total, 220 cases had adequate karyotyping and were classified as normal karyotype/normal FISH (n = 92), normal karyotype/abnormal FISH (n = 4), abnormal karyotype/normal FISH (n = 8), and abnormal karyotype/abnormal FISH (n = 116). The overall karyotype/FISH concordance rate was 97.7% with five discordant cases identified, four from the normal karyotype/abnormal FISH group and one from the abnormal karyotype/abnormal FISH group. No karyotype/FISH discordance was seen in the abnormal karyotype/normal FISH group for the FISH probes evaluated. FISH lent prognostic information in one (0.5%) of 220 cases with normal karyotype/abnormal FISH: CBFB-MYH11 fusion, indicating favorable prognosis.CONCLUSIONS: In adult AML, FISH rarely provides additional information when karyotyping is adequate. We therefore propose an evidence-based, cost-effective algorithmic approach for routine conventional karyotype and FISH testing in adult AML workup.

KW - Genetics

KW - Hematology

KW - Hematopathology

KW - Molecular diagnostics

UR - http://www.scopus.com/inward/record.url?scp=84937965125&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84937965125&partnerID=8YFLogxK

U2 - 10.1309/AJCPP6LVMQG4LNCK

DO - 10.1309/AJCPP6LVMQG4LNCK

M3 - Article

C2 - 25972330

AN - SCOPUS:84937965125

VL - 143

SP - 873

EP - 878

JO - American Journal of Clinical Pathology

JF - American Journal of Clinical Pathology

SN - 0002-9173

IS - 6

ER -