Chronic Myeloid Leukaemia (CML) and Myeloproliferative Neoplasms (MPNs)

A set of vocabulary flashcards covering the pathophysiology, clinical presentation, diagnosis, and management of CML and related MPNs.

Myeloproliferative neoplasms (MPNs)

Clonal stem cell disorders characterized by uncontrolled proliferation of one or more cell lines in the bone marrow, usually the erythroid, myeloid, and/or megakaryocyte lines.

Chronic myeloid leukaemia (CML)

A member of the MPN family accounting for 14% of leukaemias, defined by the presence of Ph+ and typically presenting in adults between 40 and 60 years of age.

Philadelphia chromosome (Ph+)

A cytogenetic abnormality defined by the $t(9; 22)$ translocation, which creates the BCR:ABL fusion.

Blast phase

The terminal evolutionary stage of CML where the disease transforms into AML (75%) or ALL (25%), resulting in death in a median of 3 to 4 years.

Chloroma

An extramedullary soft tissue leukaemic deposit that serves as a clinical sign of blast crisis.

Hyperleukocytosis

A clinical state resulting from very high white cell counts (usually $>100 \times 10^9/L$) that can cause symptoms like headache or priapism.

Splenomegaly

A common clinical sign in CML, often massive, which causes abdominal discomfort in symptomatic patients.

BCR:ABL fusion

The molecular product of the $t(9; 22)$ translocation, demonstrated by FISH or RT-PCR and used to quantify therapeutic response.

Tyrosine Kinase Inhibitors (TKIs)

A class of targeted therapy that specifically blocks the enzymatic action of the BCR-ABL fusion protein.

Imatinib

The first-line TKI treatment for chronic-phase CML, producing complete cytogenetic remission in 70% of patients.

Deep molecular response (DMR)

A goal of therapy (specifically MR4) achieved by optimal responders, which allows for the consideration of treatment discontinuation.

Treatment-free remission (TFR)

A period where patients who have achieved sustained DMR remain off treatment without disease recurrence, successful in approximately 2/3 of eligible cases.

Second-generation TKIs

Alternative medications such as dasatinib, nilotinib, and bosutinib used for patients with imatinib resistance or intolerance.

Ponatinib

A specific TKI indicated for patients who have developed the $T315l$ mutation.

Stem Cell Transplant (SCT)

A management option considered in the blast phase of CML with the aim of achieving a durable remission.