Myeloblastenleukämie mit Philadelphia-Chromosom

Zusammenfassung

Bei einem früher wegen Larynx-Carcinoms mit Röntgenstrahlen behandelten Mann trat 3 Jahre später eine Myeloblasten-Leukämie auf. Bei den cytogenetischen Untersuchungen wurden neben dem Vorkommen des Philadelphia-Chromosoms weitere Chromosomenaberrationen in der Gruppe F und G sowie eine Polymorphie des Y-Chromosoms gefunden.

Summary

In the case reported here, acute myeloblastic leukemia (AML) was diagnosed in a 65-year-old man three years after irradiation for surgically removed laryngic carcinoma. He was asymptomatic untill the onset of AML which caused his death within the short period of three weeks inspite of the treatment with mercaptopurine and prednisone. The autopsy confirmed the clinical and the haematological diagnosis showing no signs of the previous carcinoma.

The Philadelphia (Ph¹) chromosome which is supposed to be invariably associated with chronic myelocytic leukemia (CML) was found in the blood metaphases of the patient. The predominant diploid picture showed additional morphological aberrations. The vacuoles in the chromatids and in the matrix of the nucleus produced deformity and fragmentation of various chromosomes. The deletion of the chromatid of the pair F 19 and the prominance of the short arm of a G 22 member were frequently observed. The Y-chromosome exhibited polymorphism being at times represented by a ring or a round form. The intense colouring of the centromeric region of this chromosome was occasionally very conspicous.

The AML in this case may be radiation induced but on the basis of the present cytogenetic knowledge AML with radiation history cannot be differenciated from that having no radiation history. The chromosomal anomalies when present in AML are extremely variable commonly tending towards aneuploidy. The Ph¹ chromosome with altogether diploid mode is found in the great majority of the cases of CML. The Ph¹ may well be the harbinger of CML (Kemp et al., 1964) though its absence is not a sufficient evidence to deny the diagnosis (Tough et al., 1963). The presence of Ph¹ in this case and in the other cases of AML (Lüers et al., 1963;Kiossoglou et al., 1965) as well as in a case of malignant myelosclerosis (Khan andMartin, 1967) show that Ph¹ chromosome can deviate from its normal course and is therefore not always an evidence to diagnose CML.