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A 28-year-old male presents with a 2 -month history of fatigue and weakness. Physical exam reveals splenomegaly. Laboratory workup shows a leukocyte count of 27 LJ ,OOO/ J.LL, hemoglobin of 7.2g/d l, and a platelet count of 1 3 .000/J.LL. A chest fi lm is normal . The peripheral blood smear is shown . Flow cytometry shows expression of CD2+. CD3+. CDS +. CD7+. H LA-DR+ . and TdT + . The peripheral blood smear is shown.
What molecular mutation is associated with the worst event-free survival in T-cell ALL?
- NOTCHl
- HOX1 1L.2
- BCR-ABL
- HOXl l
Medicine
B. HOX1 1L.2 confers a poor prognosis, with an event-free survival of 20% at 2 years. On the other hand, HOXll is associated with a favorable outcome, with an estimated 70% to 80% disease-free survival at 3 years. Activating NOTCH I mutations have been reported in more than 50% ofT-ALL cases. They have not been associated with an unfavorable prognosis, and in fact some series have re-ported that this mutation may confer a good prognosis. BCR-ABL is observed in approximately 25% of adults with B-ALL and is an adverse prognostic factor.
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