Chronic myeloid leukaemia (CML) with acute blast crisis, liver ICD-10: C92.1; ICD-O: 9875/3
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Mann, 54 J., Diagnose einer CML in Ausstrichen aus peripherem Blut
und durch Knochenmarkspunktion vor 3 Jahren. Tod an Pneumonie im Blastenschub.
Autopsiepräparat
- Leberparenchym mit läppchengerechter Architektur
- In Portalfeldern und in Sinusoiden Infiltrate (infiltr. Portalfeld
, infiltr. Sinusoide)
bzw. Ansammlungen stabkerniger Myelozyten und Granulozyten sowie gelapptkerniger
Granulozyten
Beachte: Die chronisch-lymphatische Leukämie (CLL) infiltriert
in der Leber praktisch nur die Portalfelder
Klinik:
Leukämie mit Sekundärmanifestationen (Hepato-Splenomegalie,
opportunistische Infektionen, Thrombozytopenie (Petechien), Anämie)
Weiterführende Untersuchungen:
Bestimmung des Ph 1 (Philadelphia)-Chromosoms: Translokation meist
von Chromosom 22 auf den langen Arm von Chromosom 9 -> t (9;22),
(ca. 80% positiv); alkalische Leukozyten-Phosphatase stark erniedrigt
im Gegensatz zu anderen myeloproliferativen Syndromen (MPS)
54-year-old male was diagnosed with chronic myelogenous leukemia in peripheral blood
smears and bone marrow biopsy 3 years prior. Blast phase ensued; death was due to pneumonia (specimen from autopsy).
- The lobular architecture of the hepatic parenchyma is maintained.
- Sinusoids (infiltr. Sinusoide) and portal areas (infiltr. Portalfeld)
contain accumulations of myeloid cells in different states of maturation.
- In addition, centrilobular necrosis is noted.
Clinical findings: In the chronic phase of the disease, patients may present with weight loss, fatigue, night sweats, anemia and splenomegaly.
Upon transformation, patients develop severe symptoms secondary to extensive medullary and extra-medullary leukemic cell infiltration
(opportunistic infections, severe anemia, petechial bleedings due to thrombocytopenia, hepato- and splenomegaly).
Genetics: In 90-95% of cases the characteristic t(9;22) (q34;q11) translocation is observed, which fuses the BCR gene on chromosome 22 to the
ABL gene on chromosome 9. This cytogenetic abnormality leads to formation of the characteristic Philadelphia (Ph) chromosome.
Cytochemistry: In contrast to other myeloproliferative disorders, neutrophils exhibit markedly decreased myeloperoxidase levels during the
chronic phase of CML. In blast phase, blasts may exhibit strong to absent expression of myeloperoxisase.