Numbers of colony-forming progenitors in patients with systemic mastocytosis: potential diagnostic implications and comparison with myeloproliferative disorders

• Published in: European journal of clinical investigation Vol. 33; no. 7; pp. 611 - 618
• Main Authors: Jordan, J.-H., Jäger, E., Sperr, W. R., Schwarzinger, I., Födinger, M., Fritsche-Polanz, R., Öhler, L., Geissler, K., Valent, P.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.07.2003; Blackwell
• Subjects: Adult; Aged; Biological and medical sciences; Bone Marrow Cells - pathology; Cell Count - methods; CFU; classification; Colony-Forming Units Assay; Diagnosis, Differential; Female; Hematologic and hematopoietic diseases; Humans; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; mast cells; Mast Cells - pathology; mastocytosis; Mastocytosis - blood; Mastocytosis - diagnosis; Medical sciences; Middle Aged; myeloproliferative diseases; Myeloproliferative Disorders - blood; Myeloproliferative Disorders - diagnosis; Stem Cells - pathology; Human; Immunohistochemistry; Mastocytosis; Prognosis; Malignant hemopathy; Systemic; myeloproliferative diseases; mast cells; Colony forming cell; Pathology; Myeloproliferative syndrome; CFU; Classification; Malignant mastocytosis; Diagnosis; Comparative study; Progenitor cell
• ISSN: 0014-2972; 1365-2362
• DOI: 10.1046/j.1365-2362.2003.01172.x

Background An increase in colony‐forming progenitor cells (CFU) is typically seen in myeloproliferative disorders (MPD). Systemic mastocytosis (SM) is a haemopoietic neoplasm involving myeloid progenitors similar to MPD. In the present study, we measured the levels of peripheral blood (pb) and bone marrow (bm) CFU in patients with different categories of SM, and compared them with those obtained in MPD patients and healthy controls. Materials and methods Numbers of CFU (CFU‐GM, BFU‐E, CFU‐GEMM) were measured in a colony assay in 25 patients with SM [indolent SM (ISM), n = 15; smouldering SM (SSM), n = 3; SM with an associated haematologic clonal non‐mast cell lineage disease (SM‐AHNMD), n = 5; aggressive SM (ASM), n = 1; mast cell leukaemia (MCL), n = 1] and 37 with MPD [chronic myeloid leukaemia (CML), n = 10; polycythemia vera (PV), n = 8; essential thrombocytosis (ET), n = 9; idiopathic myelofibrosis (IMF), n = 10]. Results In the patients with MPD, elevated numbers of pb CFU were detected in all groups when compared with healthy controls (P < 0·05). In most of the patients with ISM, circulating CFU levels (CFU‐GM, BFU‐E, and CFU‐GEMM) were within the normal range. In SSM, pb CFU‐GM levels were normal in two patients, and elevated in a third patient. In the ‘SM‐AHNMD‐group’, CFU levels were found to reflect the nature of the AHNMD: in SM with concomitant acute myeloid leukaemia (SM‐AML, n = 2), the levels of CFU were low or undetectable, whereas in SM with chronic myelomonocytic leukaemia (SM‐CMML, n = 2), elevated numbers of pb CFU‐GM were found. Conclusion The numbers of CFU are normal in patients with ISM, but elevated in some patients with SSM and SM‐CMML. An elevated CFU level in SM should raise the suspicion of an associated MPD (CMML) or smouldering SM, a novel SM‐subtype that shares several features with MPD and sometimes progresses to an overt SM‐MPD.