Trisomy 14 in myelodysplastic syndromes: report of two cases and review of the literature

Arch Pathol Lab Med. 1998 Jan;122(1):77-83.


Objective: To describe the pathologic features of two cases of myelodysplastic syndrome associated with trisomy 14 and to summarize the relevant literature.

Results: In both cases, trisomy 14 was identified using conventional cytogenetic and fluorescence in situ hybridization methods. The patients were elderly men, 70 and 77 years old, who presented with anemia and thrombocytopenia. According to the French-American-British classification, case 1 was classified as refractory anemia with ringed sideroblasts, and case 2 was classified as chronic myelomonocytic leukemia. In both cases, the aspirate smears revealed obvious abnormalities in erythroid and megakaryocytic maturation, with more subtle abnormalities in myeloid maturation. The biopsy sections were hypercellular, and there was marked myeloid hyperplasia in case 2. Both patients received only supportive therapy after the diagnosis was established. Clinical follow-up was available for both patients. The patient in case 1 died 67 months after disease onset of an unrelated illness, and the patient in case 2 was alive at last follow-up, 12 months after diagnosis.

Literature review: Thirty-five cases of trisomy 14 have been previously reported in the literature, predominantly in cytogenetics journals, and the description of the pathologic findings for the majority of these cases is limited or not provided. According to published data, the majority of these cases are myelodysplastic syndromes or acute myeloid leukemias associated with myelodysplasia.

Conclusions: The detection of trisomy 14 in the bone marrow strongly correlates with the presence of a myelodysplastic syndrome. The two cases of myelodysplastic syndrome associated with trisomy 14 we describe here did not exhibit characteristic morphologic findings that might suggest the presence of the cytogenetic abnormality.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Anemia, Refractory / blood
  • Anemia, Refractory / genetics*
  • Anemia, Refractory / pathology
  • Blood Cell Count
  • Bone Marrow / pathology
  • Chromosomes, Human, Pair 14*
  • Erythrocytes / pathology
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myelomonocytic, Chronic / complications
  • Leukemia, Myelomonocytic, Chronic / genetics*
  • Leukemia, Myelomonocytic, Chronic / pathology
  • Male
  • Megakaryocytes / pathology
  • Middle Aged
  • Myelodysplastic Syndromes / complications
  • Myelodysplastic Syndromes / genetics*
  • Myelodysplastic Syndromes / pathology
  • Syndrome
  • Trisomy*