T Schroeder1, L Ruf2, A Bernhardt2, B Hildebrandt3, M Aivado4, C Aul5, N Gattermann2, R Haas2, U Germing2. 1. Department of Haematology, Oncology and Clinical Immunology. Electronic address: thomas.schroeder@med.uni-duesseldorf.de. 2. Department of Haematology, Oncology and Clinical Immunology. 3. Institute of Human Genetics and Anthropology, Heinrich-Heine University, Düsseldorf, Germany. 4. Department of Haematology, Oncology and Clinical Immunology; Global Clinical Development Oncology GlaxoSmithKline, Collegeville, PA, USA. 5. Department of Haematology, Oncology and Clinical Immunology, St Johannes Hospital, Duisburg, Germany.
Abstract
BACKGROUND: Patients not fulfilling minimal criteria for myelodysplastic syndromes (MDS) but presenting with persisting cytopenia(s) not attributable to a haematological or non-haematological disease are defined as 'idiopathic cytopenia of undetermined significance' (ICUS). DESIGN AND METHODS: We retrospectively analysed 67 of 3504 patients from our MDS Registry fulfilling the criteria for ICUS. Furthermore, we used the human androgen receptor gene-based assay (HUMARA) to look for clonality. RESULTS: Of all 67 patients, 66% had unilineage, 18% bilineage and 12% trilineage cytopenias. The majority of patients (67%) presented with anaemia. Median overall survival was 44 months (range: 1-199 months). In the entire group, eight patients (12%) developed acute myeloid leukaemia (AML). Of the 23 patients eligible for HUMARA, 17 had non-clonal X-chromosome inactivation patterns, while 6 patients showed clonal patterns. Two of these six patients developed AML indicating that a clonal stem cell disorder was the reason for the anteceding cytopenia, while there was no AML observed among the 17 patients with non-clonal patterns (P = 0.013). CONCLUSIONS: Since some of the ICUS patients had a clonal bone marrow disease when presenting with cytopenia(s) and 8 of 67 patients with ICUS later developed AML, we recommend to follow these patients thoroughly. As demonstrated here, HUMARA can facilitate the discrimination between ICUS and a 'manifest' MDS.
BACKGROUND:Patients not fulfilling minimal criteria for myelodysplastic syndromes (MDS) but presenting with persisting cytopenia(s) not attributable to a haematological or non-haematological disease are defined as 'idiopathic cytopenia of undetermined significance' (ICUS). DESIGN AND METHODS: We retrospectively analysed 67 of 3504 patients from our MDS Registry fulfilling the criteria for ICUS. Furthermore, we used the humanandrogen receptor gene-based assay (HUMARA) to look for clonality. RESULTS: Of all 67 patients, 66% had unilineage, 18% bilineage and 12% trilineage cytopenias. The majority of patients (67%) presented with anaemia. Median overall survival was 44 months (range: 1-199 months). In the entire group, eight patients (12%) developed acute myeloid leukaemia (AML). Of the 23 patients eligible for HUMARA, 17 had non-clonal X-chromosome inactivation patterns, while 6 patients showed clonal patterns. Two of these six patients developed AML indicating that a clonal stem cell disorder was the reason for the anteceding cytopenia, while there was no AML observed among the 17 patients with non-clonal patterns (P = 0.013). CONCLUSIONS: Since some of the ICUS patients had a clonal bone marrow disease when presenting with cytopenia(s) and 8 of 67 patients with ICUS later developed AML, we recommend to follow these patients thoroughly. As demonstrated here, HUMARA can facilitate the discrimination between ICUS and a 'manifest' MDS.
Authors: Mikkael A Sekeres; Steven D Gore; Donald M Stablein; Nancy DiFronzo; Gregory A Abel; Amy E DeZern; Jesse D Troy; Dana E Rollison; John W Thomas; Myron A Waclawiw; Jane Jijun Liu; Tareq Al Baghdadi; Matthew J Walter; Rafael Bejar; Edward J Gorak; Daniel T Starczynowski; James M Foran; James R Cerhan; Lynn C Moscinski; Rami S Komrokji; H Joachim Deeg; Pearlie K Epling-Burnette Journal: Leuk Lymphoma Date: 2019-05-21
Authors: Brian Kwok; Jeff M Hall; John S Witte; Yin Xu; Prashanti Reddy; Keming Lin; Rachel Flamholz; Bashar Dabbas; Aine Yung; Jenan Al-Hafidh; Emily Balmert; Christine Vaupel; Carlos El Hader; Matthew J McGinniss; Shareef A Nahas; Julie Kines; Rafael Bejar Journal: Blood Date: 2015-10-01 Impact factor: 22.113