The value of next-generation sequencing in routine diagnostics and management of patients with cytopenia
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The value of next-generation sequencing in routine diagnostics and management of patients with cytopenia. / Breinholt, Marie Fredslund; Nielsen, Kåre; Schejbel, Lone; Fassi, Daniel El; Schöllkopf, Claudia; Novotny, Guy Wayne; Mortensen, Bo Kok; Ahmad, Azhar; Høgdall, Estrid; Nørgaard, Peter.
In: International Journal of Laboratory Hematology, Vol. 44, No. 3, 2022, p. 531-537.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - The value of next-generation sequencing in routine diagnostics and management of patients with cytopenia
AU - Breinholt, Marie Fredslund
AU - Nielsen, Kåre
AU - Schejbel, Lone
AU - Fassi, Daniel El
AU - Schöllkopf, Claudia
AU - Novotny, Guy Wayne
AU - Mortensen, Bo Kok
AU - Ahmad, Azhar
AU - Høgdall, Estrid
AU - Nørgaard, Peter
N1 - Publisher Copyright: © 2022 John Wiley & Sons Ltd.
PY - 2022
Y1 - 2022
N2 - Introduction: We performed a single-center study of real-world health data to investigate the direct clinical consequence of targeted next-generation sequencing (NGS) results integrated in the clinicopathological evaluation of patients with cytopenia suspected of myelodysplastic syndrome (MDS). Methods: The study included 87 newly referred patients, who had a bone marrow examination, which included targeted NGS analysis. NGS was requested at the discretion of either examining pathologist or hematologist. Data were collected retrospectively from patient files including pathology reports with integrated NGS results. Results: The NGS results had a diagnostic impact in 67 cases (77%) when combining both histopathological and final clinical evaluation and provided prognostic value in 19 cases (22%). NGS supported a confident or tentative histopathological diagnosis in 52 cases (60%). Twenty cases (23%) had a final diagnosis of either Clonal Cytopenia of Undetermined Significance (CCUS) or Idiopathic Cytopenia of Undetermined Significance (ICUS). In 4 cases, NGS results affected the choice of principal treatment strategy, including considerations of allotransplantation. Twenty-one patients (24%) could be discharged to primary care physician. Conclusion: In a multidisciplinary clinicopathological real-world setting, NGS analysis of bone marrow samples from selected patients contributed substantially to the diagnostic evaluation and management of patients with cytopenia suspected of MDS. Consequently, we have now included NGS analysis in most routine bone marrow examinations from patients with MDS or unexplained cytopenia.
AB - Introduction: We performed a single-center study of real-world health data to investigate the direct clinical consequence of targeted next-generation sequencing (NGS) results integrated in the clinicopathological evaluation of patients with cytopenia suspected of myelodysplastic syndrome (MDS). Methods: The study included 87 newly referred patients, who had a bone marrow examination, which included targeted NGS analysis. NGS was requested at the discretion of either examining pathologist or hematologist. Data were collected retrospectively from patient files including pathology reports with integrated NGS results. Results: The NGS results had a diagnostic impact in 67 cases (77%) when combining both histopathological and final clinical evaluation and provided prognostic value in 19 cases (22%). NGS supported a confident or tentative histopathological diagnosis in 52 cases (60%). Twenty cases (23%) had a final diagnosis of either Clonal Cytopenia of Undetermined Significance (CCUS) or Idiopathic Cytopenia of Undetermined Significance (ICUS). In 4 cases, NGS results affected the choice of principal treatment strategy, including considerations of allotransplantation. Twenty-one patients (24%) could be discharged to primary care physician. Conclusion: In a multidisciplinary clinicopathological real-world setting, NGS analysis of bone marrow samples from selected patients contributed substantially to the diagnostic evaluation and management of patients with cytopenia suspected of MDS. Consequently, we have now included NGS analysis in most routine bone marrow examinations from patients with MDS or unexplained cytopenia.
KW - hematology
KW - myelodysplastic syndrome
KW - next-generation sequencing
KW - pathology
KW - patient management
KW - real-world data
U2 - 10.1111/ijlh.13802
DO - 10.1111/ijlh.13802
M3 - Journal article
C2 - 35142436
AN - SCOPUS:85124587510
VL - 44
SP - 531
EP - 537
JO - Clinical and Laboratory Haematology
JF - Clinical and Laboratory Haematology
SN - 1751-5521
IS - 3
ER -
ID: 308331452