Clonal cytogenetic anomalies suggestive of a myelodysplastic syndrome in patients with morphologically normal bone marrow aspirates

David P. Steensma, Gordon W. Dewald, Janice M. Hodnefield, Ayalew Tefferi, Curtis A. Hanson

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Clonal cytogenetic abnormalities are found in the bone marrow cells of 40 to 60% of patients with myelodysplastic syndromes (MDS). We have occasionally observed patients with morphologically normal bone marrow aspirates, but with clonal abnormalities on conventional cytogenetic analysis suggestive of MDS. Between October 1994 and April 2000, 58 such patients were seen at our institution (36 men, 22 women; age range, 19-88 years; median age, 71). The indications for marrow aspiration in this group were cytopenias alone (32 patients), staging or follow-up of a lymphoproliferative or plasma cell disorder (21 patients), or another miscellaneous reason (5 patients). 27 of the 58 patients had previously been treated with an alkylating agent (14 cyclophosphamide, 7 melphalan, 4 chlorambucil, 1 BCNU, I nitrogen mustard) starting a median of 68 months earlier. 51 patients were anemic, 30 had erythrocyte macrocytosis, 30 were leukopenic, and 40 were thrombocytopenic; 26 were pancytopenic. The marrow was hypocellular in 21 cases, normocellular in 14, and hypercellular in 23. As of August 2000, with a median follow-up of 7 months, 18 of the 58 patients were dead. Of these 18 patients, 1 died of acute myelogenous leukemia (AML), 4 of complications related to cytopenias, 6 of a previously diagnosed lymphoproliferative disorder, and 7 of unrelated causes. The cytogenetic findings were as follows: among those with 1 or 2 clonal cytogenetic anomalies, the most common abnormality was del(20)q [11 patients], followed by: del(7)q or monosomy 7 [6 pts], trisomy 8 [4 pts], del(5)q [3 pts], del(13)q [3 pts], and t(l;7)(qlO;plO) [2 pts]. 21 patients had other unique clonal cytogenetic anomalies, and 11 patients had a complex karyotype (3 or more anomalies). There were no significant differences between the karyotypes of patients treated with alkylating agents and untreated patients. We conclude that a clonal cytogenetic anomaly suggestive of MDS in the absence of morphologic findings of marrow dysplasia still carries a risk of leukemic transformation or death from cytopenias. The cytogenetic abnormalities in this group are generally typical of MDS, with del(20)q being the most frequently encountered. Del(20)q was seen alone in 19% of our patients; in a recent series of 640 MDS patients, this anomaly was seen alone in only 2% of cases with the refractory anemia FAB subtype. Continued follow-up will more clearly define the prognosis in this heterogeneous cohort.

Original languageEnglish (US)
Pages (from-to)150a
Issue number11 PART I
StatePublished - Dec 1 2000

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Fingerprint Dive into the research topics of 'Clonal cytogenetic anomalies suggestive of a myelodysplastic syndrome in patients with morphologically normal bone marrow aspirates'. Together they form a unique fingerprint.

Cite this