Correlation of plasma cell assessment by phenotypic methods and molecular profiles by NGS in patients with plasma cell dyscrasias.

Rebmann Chigrinova, Ekaterina; Porret, Naomi A; Andres, Martin; Wiedemann, Gertrud; Banz, Yara; Legros, Myriam; Pollak, Matthias; Oppliger Leibundgut, Elisabeth; Pabst, Thomas; Bacher, Ulrike (2022). Correlation of plasma cell assessment by phenotypic methods and molecular profiles by NGS in patients with plasma cell dyscrasias. BMC medical genomics, 15(1), p. 203. BioMed Central 10.1186/s12920-022-01346-1

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BACKGROUND

Next-generation sequencing (NGS) detects somatic mutations in a high proportion of plasma cell dyscrasias (PCD), but is currently not integrated into diagnostic routine. We correlated NGS data with degree of bone marrow (BM) involvement by cytomorphology (BMC), histopathology (BMH), and multiparameter flow cytometry (MFC) in 90 PCD patients.

METHODS

Of the 90 patients the diagnoses comprised multiple myeloma (n = 77), MGUS (n = 7), AL-amyloidosis (n = 4) or solitary plasmocytoma (n = 2). The NGS panel included eight genes CCND1, DIS3, EGR1, FAM46C (TENT5C), FGFR3, PRDM1, TP53, TRAF3, and seven hotspots in BRAF, IDH1, IDH2, IRF4, KRAS, NRAS.

RESULTS

Mutations were detected in 64/90 (71%) of cases. KRAS (29%), NRAS (16%) and DIS3 (16%) were most frequently mutated. At least one mutation/sample corresponded to a higher degree of BM involvement with a mean of 11% pathologic PC by MFC (range, 0.002-62%), and ~ 50% (3-100%) as defined by both BMC and BMH.

CONCLUSIONS

The probability of detecting a mutation by NGS in the BM was highest in samples with > 10% clonal PC by MFC, or > 20% PC by BMC/ BMH. We propose further evaluation of these thresholds as a practical cut-off for processing of samples by NGS at initial PCD diagnosis.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Medical Oncology
04 Faculty of Medicine > Service Sector > Institute of Pathology

UniBE Contributor:

Rebmann-Chigrinova, Ekaterina; Porret, Naomi; Andres, Martin; Wiedemann, Gertrud; Banz Wälti, Yara Sarah; Legros, Myriam; Pollak, Matthias; Oppliger Leibundgut, Elisabeth; Pabst, Thomas Niklaus and Bacher, Vera Ulrike

Subjects:

600 Technology > 610 Medicine & health
500 Science > 570 Life sciences; biology

ISSN:

1755-8794

Publisher:

BioMed Central

Language:

English

Submitter:

Pubmed Import

Date Deposited:

26 Sep 2022 11:32

Last Modified:

05 Dec 2022 16:25

Publisher DOI:

10.1186/s12920-022-01346-1

PubMed ID:

36138464

Uncontrolled Keywords:

Bone marrow aspirate Flow cytometry Histopathology Multiple myeloma NGS Trephine biopsy

BORIS DOI:

10.48350/173251

URI:

https://boris.unibe.ch/id/eprint/173251

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