BACKGROUND: In patients with unexplained cytopenias, abnormal karyotyping studies can be found with inconclusive light microscopic findings. Multidimensional flow cytometry (FCM) can identify myelomonocytic cells with aberrant phenotypes often not seen by standard morphology. METHODS: In 431 patients presenting with unexplained cytopenia(s) FCM results were compared to abnormal karyotyping and FISH results recognized as associated with myelodysplastic syndrome (MDS) in the 2008 WHO classification, to assess the degree of and types of phenotypic abnormalities observed using a previously reported flow cytometric scoring system (FCSS). Fluorescence activated cell sorting was also used to identify subpopulations of abnormal maturing myelomonocytic cells that carry the genotypic abnormality. RESULTS: For marrows with complex (three or more karyotypic abnormalities), two abnormalities, isolated chromosome seven anomalies, del(5q) or del(13q), 100% of cases were positive when using a FCSS cutoff of ≥ 2. Trisomy 8, del(20 q), and minus Y had flow scores ≥ 2 in 72, 60, and 18%, respectively, but in some cases the flow score was high, indicating myeloid dysplasia. Most patients (16/22) with high myeloid progenitor cells (MyPC) (> 20%) also exhibited maturing myeloid cell abnormalities by FCM. Morphology was negative in the maturing myeloid cells in many cases with phenotypically abnormal myeloid cells. CONCLUSIONS: The high correlation between genotypic and phenotypic abnormalities suggests a possible increased utility of flow cytometry in the diagnosis of patients with unexplained cytopenias and may be useful in future clinical studies and in the classification by the WHO, using the FCSS rather than simple counting of flow cytometric abnormalities.
BACKGROUND: In patients with unexplained cytopenias, abnormal karyotyping studies can be found with inconclusive light microscopic findings. Multidimensional flow cytometry (FCM) can identify myelomonocytic cells with aberrant phenotypes often not seen by standard morphology. METHODS: In 431 patients presenting with unexplained cytopenia(s) FCM results were compared to abnormal karyotyping and FISH results recognized as associated with myelodysplastic syndrome (MDS) in the 2008 WHO classification, to assess the degree of and types of phenotypic abnormalities observed using a previously reported flow cytometric scoring system (FCSS). Fluorescence activated cell sorting was also used to identify subpopulations of abnormal maturing myelomonocytic cells that carry the genotypic abnormality. RESULTS: For marrows with complex (three or more karyotypic abnormalities), two abnormalities, isolated chromosome seven anomalies, del(5q) or del(13q), 100% of cases were positive when using a FCSS cutoff of ≥ 2. Trisomy 8, del(20 q), and minus Y had flow scores ≥ 2 in 72, 60, and 18%, respectively, but in some cases the flow score was high, indicating myeloid dysplasia. Most patients (16/22) with high myeloid progenitor cells (MyPC) (> 20%) also exhibited maturing myeloid cell abnormalities by FCM. Morphology was negative in the maturing myeloid cells in many cases with phenotypically abnormal myeloid cells. CONCLUSIONS: The high correlation between genotypic and phenotypic abnormalities suggests a possible increased utility of flow cytometry in the diagnosis of patients with unexplained cytopenias and may be useful in future clinical studies and in the classification by the WHO, using the FCSS rather than simple counting of flow cytometric abnormalities.
Authors: Alex F Sandes; Mihoko Yamamoto; Sergio Matarraz; Maria de Lourdes L F Chauffaille; Sandra Quijano; Antonio López; Tsutomu Oguro; Eliza Y S Kimura; Alberto Orfao Journal: Haematologica Date: 2012-01-22 Impact factor: 9.941
Authors: Theresia M Westers; Eline M P Cremers; Uta Oelschlaegel; Ulrika Johansson; Peter Bettelheim; Sergio Matarraz; Alberto Orfao; Bijan Moshaver; Lisa Eidenschink Brodersen; Michael R Loken; Denise A Wells; Dolores Subirá; Matthew Cullen; Jeroen G Te Marvelde; Vincent H J van der Velden; Frank W M B Preijers; Sung-Chao Chu; Jean Feuillard; Estelle Guérin; Katherina Psarra; Anna Porwit; Leonie Saft; Robin Ireland; Timothy Milne; Marie C Béné; Birgit I Witte; Matteo G Della Porta; Wolfgang Kern; Arjan A van de Loosdrecht Journal: Haematologica Date: 2016-10-06 Impact factor: 9.941
Authors: Eline M P Cremers; Theresia M Westers; Canan Alhan; Claudia Cali; Heleen A Visser-Wisselaar; Dana A Chitu; Vincent H J van der Velden; Jeroen G Te Marvelde; Saskia K Klein; Petra Muus; Edo Vellenga; Georgina E de Greef; Marie-Cecile C J C Legdeur; Pierre W Wijermans; Marian J P L Stevens-Kroef; Pedro da Silva-Coelho; Joop H Jansen; Gert J Ossenkoppele; Arjan A van de Loosdrecht Journal: Haematologica Date: 2016-09-22 Impact factor: 9.941
Authors: C Alhan; T M Westers; E M P Cremers; C Cali; B I Witte; G J Ossenkoppele; A A van de Loosdrecht Journal: Leukemia Date: 2015-10-27 Impact factor: 11.528