Primary myelodysplasia occurring in adults under 50 years old: a clinicopathologic study of 52 patients

Abstract

Although myelodysplastic syndromes (MDSs) are generally thought to be diseases of elderly patients, younger patients also have rarely been diagnosed with MDS. This is a report of the clinical, morphologic and cytogenetic features of 52 cases of primary MDS occurring in adults under the age of 50 years. Cases secondary to chemotherapy or radiotherapy were excluded. There were 31 males and 21 females. The median age at presentation was 39 years (range, 18 to 49 years). The interval between onset of symptoms and diagnosis was brief (median, 4 weeks; range, 1-32 weeks). Of the 49 patients for whom information about duration of symptoms was available, 13 (27%) were asymptomatic. Forty-two (81%) of the patients were classified using FAB criteria for blood and bone marrow morphology: refractory anemia (RA), 11; refractory anemia with ringed sideroblasts (RARS), four; refractory anemia with excess blasts (RAEB), 12; chronic myelomonocytic leukemia (CMML), three; refractory anemia with excess blasts in transformation (RAEB-T), 12 patients. Ten patients could not be categorized. Abnormalities involving chromosome 7 was the most frequent cytogenetic abnormality (31%). Partial chromosomal deletion and chromosome gain were also common abnormalities (22% and 9%, respectively). Translocations accounted for only 9% of the main cytogenetic abnormalities encountered in this patient population. For the 49 patients for whom information regarding AML transformation was available, 23 (47%) progressed to acute myeloid leukemia, with an overall median time to progression of 2 months (range 3 weeks to 3 years). In each category except for RARS, approximately half of the patients progressed, with a slightly less median time to progression in RAEB-T than for the other subtypes of MDS. Thirteen patients underwent bone marrow transplantation at the time of presentation of their disease. Leukemia (2002) 16, 623-631.

Molecular characterization of chromosome 7 in AML and MDS patients

“…However, the AML group (Group A) revealed both abnormalities, -7/7q-while monosomy 7 (-7) was the only abnormality found in Group B. Similar frequencies were observed by Brozek et al [9] and Chang et al [28], the latter studied chromosomal abnormalities in 52 primary MDS patients in which abnormalities involving chromosome 7 was the most frequent cytogenetic abnormality and was found in 31% of cases. These were higher than previously observed by other authors, who detected -7/7q-in 12%,8% , 9% , 7.8% of AML patients respectively [29,30,31,32].…”

Daily practice management of myelodysplastic syndromes in France: data from 907 patients in a one-week cross-sectional study by the Groupe Francophone des Myelodysplasies

“…Several other investigators also found an increased frequency of del 7q or monosomy 7 but not of complex karyotype in patients aged under 65 years old as well as in patients aged under 50 years. [23][24][25][26] An increased frequency of trisomy 8 in younger patients had not been reported so far, to our knowledge. 28 The prevalences of del 5q/-5 and -7/del 7q in patients aged less than 65 years appeared similar to those reported for patients with AML (excluding acute promyelocytic leukemia) in two studies.…”

Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog

“…The incidence of MDS increases dramatically with advancing age, and MDS is uncommon among individuals younger than 50 years, where it accounts for only 6-7% of all MDS and much less when the diagnosis is restricted to a de novo presentation [12–14]. In a recent MDS cohort without such restriction, only 3 of 70 patients were younger than 40 years [15].…”