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Editor-in-chief
Maria Stella Graziani

Deputy Director
Martina Zaninotto

Associate Editors
Ferruccio Ceriotti
Davide Giavarina
Bruna Lo Sasso
Giampaolo Merlini
Martina Montagnana
Andrea Mosca
Paola Pezzati
Rossella Tomaiuolo
Matteo Vidali

International Advisory Board Khosrow Adeli Canada
Sergio Bernardini Italy
Marcello Ciaccio Italy
Eleftherios Diamandis Canada
Philippe Gillery France
Kjell Grankvist Sweden
Hans Jacobs The Netherlands
Eric Kilpatrick UK
Magdalena Krintus Poland
Giuseppe Lippi Italy
Mario Plebani Italy
Sverre Sandberg Norway
Ana-Maria Simundic Croatia
Tommaso Trenti Italy
Cas Weykamp The Netherlands
Maria Willrich USA
Paul Yip Canada


Publisher
Biomedia srl
Via L. Temolo 4, 20126 Milano

Responsible Editor
Giuseppe Agosta

Editorial Secretary
Andrea di Bello
Biomedia srl
Via L. Temolo 4, 20126 Milano
Tel. 0245498282
email: biochimica.clinica@sibioc.it

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ISSN print: 0393 – 0564
ISSN digital: 0392- 7091



BC: Articoli scritti da E. Ciabatti

Determinazione delle mutazioni del gene isocitrato deidrogenasi 2 nella leucemia mieloide acuta: utilizzo della tecnica Digital Droplet PCR “Drop-Off” per diagnosi e monitoraggio
Biochimica Clinica ; 44(4) 407-409
Lettere all'Editore - Letters to the Editor
 
Monitoraggio molecolare di Isocitrato Deidrogenasi 2 in paziente con Leucemia Mieloide Acuta recidivata
Molecular monitoring of Isocitrate Dehydrogenase 2 in a patient with relapsed Acute Myeloid Leukemia
<p>Isocitrate Dehydrogenase 2 (IDH2) mutations are reported in about 20% of Acute Myeloid Leukemia (AML) and they are promising Minimal/Measurable Residual Disease (MRD) molecular markers because of the possible therapy whit the inhibitor Enasidenib. A man with a diagnosis of AML, negative for the common molecular markers, resulted in complete remission (CR) only after three induction cycles. The patient underwent a transplant procedure but after 7 months a relapse was observed. We retrospectively studied the status of IDH2 mutation in this patient which was positive at diagnosis (29%), after two induction cycles and at the allogeneic transplantation (2%). In the next follow-up, both WT1 and IDH2 were normal. After 3 months, when the patient was in CR and WT1 was still normal, IDH2 resulted 0.12%. After further 2 months, the patient clinically relapsed; at that time, WT1 was very high and IDH2 was 7.8%. In this case, IDH2 monitoring by Droplet Digital PCR (ddPCR) predicted relapse two months before WT1 levels and clinical evidence.</p>
Biochimica Clinica ; 44(4) e37-e39
Casi Clinici - Case Report