PMID- 36864712
OWN - NLM
STAT- MEDLINE
DCOM- 20230307
LR  - 20230309
IS  - 1941-5923 (Electronic)
IS  - 1941-5923 (Linking)
VI  - 24
DP  - 2023 Mar 3
TI  - A 68-Year-Old Man with a Cytogenetic Diagnosis of Chronic Myeloid Leukemia and 
      Bone Marrow Findings of Philadelphia Chromosome Translocation Between the Long 
      Arm of Chromosomes 9 and 22, Leading to the BCR-ABL1 Fusion Gene and V617F 
      Mutation in the JAK2 Gene.
PG  - e938488
LID - 10.12659/AJCR.938488 [doi]
AB  - BACKGROUND Breakpoint cluster region (BCR)-Abelson murine leukemia (ABL1) and 
      Janus Kinase-2 (JAK2) mutations have been thought to be mutually exclusive in 
      myeloproliferative neoplasms (MNPs), but recent data suggest that they can occur 
      together. CASE REPORT A 68-year-old man was referred to the hematology clinic 
      because of an elevated white blood cell count. His medical history included type 
      II diabetes mellitus, hypertension, and retinal hemorrhage. Fluorescence in situ 
      hybridization analysis of the bone marrow was positive for BCR-ABL1 in 66/100 
      cells. Conventional cytogenetics was positive for the Philadelphia chromosome in 
      16/20 counted cells. The percentage of BCR-ABL1 was 12%. Considering the 
      patient's age and medical comorbidities, he was started on imatinib 400 mg once 
      daily. Further tests showed JAK2 V617F mutation positivity and absence of 
      acquired von Willebrand disease. He was then started on aspirin 81 mg and 
      hydroxyurea 500 mg once daily, which was later increased to 1000 mg daily. The 
      patient achieved a major molecular response after 6 months of treatment, with 
      undetectable BCR-ABL1 levels. CONCLUSIONS BCR-ABL1 and JAK2 mutations can 
      co-existence in MNPs. Physicians must suspect the presence of one of the MPNs in 
      chronic myeloid leukemia (CML) patients with persistent or increased 
      thrombocytosis, an atypical course of the disease, or hematological abnormalities 
      despite evidence of response or remission of CML. Therefore, testing for JAK2 
      should be performed accordingly. Combining cytoreductive therapy with tyrosine 
      kinase inhibitors (TKIs) is a therapeutic option when both mutations are present, 
      and TKI alone is not sufficient to control peripheral blood cell counts.
FAU - Warsi, Ashraf
AU  - Warsi A
AUID- ORCID: 0000-0002-1253-7003
AD  - Department of Adult Hematology and BMT, Ministry of the National Guard - Health 
      Affairs, King Abdullah International Medical Research Center, King Saud bin 
      Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
FAU - Alamoudi, Sameer
AU  - Alamoudi S
AD  - Department of Adult Hematology and BMT, Ministry of the National Guard - Health 
      Affairs, King Abdullah International Medical Research Center, King Saud bin 
      Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
FAU - Alsuraihi, Anas K
AU  - Alsuraihi AK
AD  - Department of Adult Hematology and BMT, Ministry of the National Guard - Health 
      Affairs, King Abdullah International Medical Research Center, King Saud bin 
      Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
FAU - Althobaiti, Mohammed
AU  - Althobaiti M
AD  - Department of Adult Hematology and BMT, Ministry of the National Guard - Health 
      Affairs, King Abdullah International Medical Research Center, King Saud bin 
      Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
FAU - Daghistani, Mustafa
AU  - Daghistani M
AUID- ORCID: 0000-0002-9542-2040
AD  - Department of Pathology and Laboratory Medicine, Ministry of the National Guard - 
      Health Affairs, King Abdullah International Medical Research Center, College of 
      Applied Medical Sciences, King Saud bin Abdulaziz University for Health Sciences, 
      Jeddah, Saudi Arabia.
FAU - Samarin, Kawlah
AU  - Samarin K
AD  - Department of Medicine, College of Medicine, Umm Al-Qura University, Makkah, 
      Saudi Arabia.
FAU - Alahmadi, Mariah O
AU  - Alahmadi MO
AD  - Department of Medicine, College of Medicine, Umm Al-Qura University, Makkah, 
      Saudi Arabia.
FAU - Abuyabis, Reema Ghazi
AU  - Abuyabis RG
AD  - Department of Medicine, College of Medicine, Umm Al-Qura University, Makkah, 
      Saudi Arabia.
FAU - Bogari, Raha A
AU  - Bogari RA
AD  - Department of Medicine, College of Medicine, Umm Al-Qura University, Makkah, 
      Saudi Arabia.
FAU - Filimban, Sarah AhmadZaki
AU  - Filimban SA
AD  - Department of Medicine, College of Medicine, Umm Al-Qura University, Makkah, 
      Saudi Arabia.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20230303
PL  - United States
TA  - Am J Case Rep
JT  - The American journal of case reports
JID - 101489566
RN  - EC 2.7.10.2 (JAK2 protein, human)
RN  - EC 2.7.10.2 (Janus Kinase 2)
SB  - IM
MH  - Aged
MH  - Humans
MH  - Male
MH  - Bone Marrow
MH  - *Diabetes Mellitus, Type 2
MH  - In Situ Hybridization, Fluorescence
MH  - Janus Kinase 2/genetics
MH  - *Leukemia, Myelogenous, Chronic, BCR-ABL Positive/diagnosis/drug therapy/genetics
MH  - Philadelphia Chromosome
MH  - Translocation, Genetic
PMC - PMC9989977
COIS- Conflict of interest: None declared
EDAT- 2023/03/04 06:00
MHDA- 2023/03/07 06:00
PMCR- 2023/03/03
CRDT- 2023/03/03 01:23
PHST- 2023/03/03 01:23 [entrez]
PHST- 2023/03/04 06:00 [pubmed]
PHST- 2023/03/07 06:00 [medline]
PHST- 2023/03/03 00:00 [pmc-release]
AID - 938488 [pii]
AID - 10.12659/AJCR.938488 [doi]
PST - epublish
SO  - Am J Case Rep. 2023 Mar 3;24:e938488. doi: 10.12659/AJCR.938488.