Rheumatology & Haematology — Flashcards

Flashcard 441: Chronic phase of CML can be asymptomatic, when symptomatic it presents with _____

Answer: weight loss, fever, night sweats

Flashcard 442: What is the confirmatory investigation for chronic myeloid leukaemia (CML)?\n_____

Answer: Cytogenetics/FISH for BCR-ABL1 (Philadelphia chromosome)

Extra: CML is characterized by the t(9;22) translocation, forming the BCR-ABL1 fusion gene. Confirmation and monitoring are done via Cytogenetics (Karyotyping), FISH, or RT-PCR. Moving forward, quantitative PCR is used to monitor molecular response to TKI therapy.

Flashcard 443: Chronic myeloid leukaemia is overexpression of the _____ lineage, particularly granulocytes (neutrophils, basophils, eosinophils)

Answer: myeloid

Flashcard 444: What are the examination finding(s) of chronic myeloid leukaemia? _____

Answer: Massive splenomegaly (larger as the phases progress)

Flashcard 445: _____ erythrocytosis is ↑ haematocrit & haemoglobin with normal red cell mass due to ↓ plasma volume

Answer: Apparent

Flashcard 446: Polycythaemia vera has a mutation of the _____ gene that ↑ tyrosine kinase activity causing EPO-independent erythrocytosis

Answer: JAK2

Flashcard 447: _____ is a myeloproliferative disorder that leads to erythrocytosis with or without granulocytosis & thrombocytosis

Answer: Polycythaemia vera

Flashcard 448: How does _____ affect cells? ↑ Erythrocytosis with or without ↑ granulocytosis or thrombocytosis

Answer: polycythaemia vera

Flashcard 449: What are the examination finding(s) of polycythaemia vera? _____

Answer: Splenomegaly (can also present w/hepatomegaly)

Flashcard 450: Polycythemia vera classically presents with intense _____, especially after a hot shower/bath

Answer: pruritus