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Challenging case

  • Rafael Hurtado-Monroy
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3 years 1 week ago - 3 years 1 week ago #1827 by Rafael Hurtado-Monroy
Challenging case was created by Rafael Hurtado-Monroy
A 53 year old Mexican patient was send to our referral center for CML with typical CML by clinical and laboratory, but Ph was negative for all methods, however the cytogenetic study showed 45~47, XX, del(11)(q23)del (12))(p13, +20(cp15)/46XX(5).

In a period of two weeks she doubled the WBC count and spleen pain, G-IV anemia with blood transfusion required as well.

We started with hydroxyurea, however I would like to know other opinion of experts in regard treatment strategy, other than supportive therapy.
Last edit: 3 years 1 week ago by arlene.
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  • Michele Baccarani
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3 years 1 week ago - 3 years 1 week ago #1828 by Michele Baccarani
Replied by Michele Baccarani on topic Challenging case
This could be a case of Ph+ BCR-ABL+ CML with a rare fusion transcript that cannot be detected by current PCR testing. Very rare, almost hypothetical, but worth of a trial of imatinib 400 mg once daily. If it works, it works very quickly, the cost of the generic is low and toxicity is negligible.

Deletions of the long arm of chromosome 11, though non specific, recur in several Phneg CMN. Some patients have responded to Ruxolitinib. If Imatinib fails, I would try Ruxo.

But I’m afraid that one should plan allogeneic stem cell transplantation, as soon as possible, if the patient is eligible, any donor but cord blood, myeloablative, with Cyclophosphamide after stem cell infusion.

Good Luck!
Last edit: 3 years 1 week ago by arlene.
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