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, Volume 41, Issue 5, pp 367–376 | Cite as

Zytogenetische und hämatologische Verlaufsbeobachtungen bei idiopathischer refraktärer sideroblastischer Anämie (IRSA)

  • S. Mende
  • I. Weissenfels
  • W. Pribilla
Originalarbeiten

Zusammenfassung

Bei zehn Patienten mit IRSA wurden zytogenetische und knochenmarkmorphologische Befunde innerhalb 24 Monaten ein- oder mehrfach kontrolliert. Acht Patienten wiesen einen euploiden Chromosomensatz auf, bei zwei Patienten bestanden stabile klonale Aberrationen (45, XO, -Y und 46, XX, + mär). Während der durchschnittlich 6,8jährigen Krankheitsdauer trat bei keinem Patienten eine Leukämie auf. Auch bei zehn weiteren, bereits verstorbenen Patienten mit IRSA wurden nach 7,7 Jahren Latenzzeit keine Leukämien und 2 maligne Tumoren (Colon- und Prostatacarcinom) beobachtet.

Dagegen weisen primäre Besonderheiten der Knochenmarkmorphologie (geringgradige Myeloblastenvermehrung, normale Zellularität, hoher M∶E-Anteil, PAS-positive Erythroblasten), eine zusätzliche Thrombopenie oder schwere instabile klonale Chromosomenaberrationen auf eine Präleukämie mit symptomatischer SA hin Drei derartige Fälle entwickelten nach 1–15 Monaten eine unreifzellige Leukämie.

Schlüsselwörter

Sideroblastische Anämie Präleukämie Chromosomenanalyse 

Cytogenetic and hematologic follow-up studies in idiopathic refractory sideroblastic anemia (IRSA)

Summary

In ten patients with IRSA, chromosome analysis and bone marrow cytology were performed once or several times during 24 months. Bone marrow chromosomes from eight patients showed a normal karyotype. Two patients were found to have stable clonal chromosome aberrations (45, X, -Y [male] and 46, XX, + mar). In a median duration of 6.8 years of IRSA no patient has yet developed acute leukemia. In another ten deceased patients with IRSA no evidence of leukemia, but a carcinoma of colon and prostate were observed in a latency of 7.7 years.

Three patients with symptomatic SA developed in 1–15 months an acute leukemia. Two of them showed severe instable clonal chromosome abnormalities. Distinct bone marrow abnormalities (increase of blasts, normal cellularity, reversed M∶E ratio, PAS-pos. erythroblasts), thrombocytopenia, and major clonal chromosome aberrations may help to differentiate IRSA from preleukemic states with symptomatic SA.

Key words

Sideroblastic anemia Preleukemia Chromosome analysis 

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Copyright information

© Springer-Verlag 1980

Authors and Affiliations

  • S. Mende
    • 1
  • I. Weissenfels
    • 2
  • W. Pribilla
    • 3
  1. 1.Medizinische KlinikRavensburgBundesrepublik Deutschland
  2. 2.Department für innere Medizin, Abteilung HämatologieMedizinische HochschuleHannoverBundesrepublik Deutschland
  3. 3.II. Innere AbteilungKrankenhaus MoabitBerlin 21

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