PMID- 38175376
OWN - NLM
STAT- MEDLINE
DCOM- 20240105
LR  - 20240105
IS  - 1865-5785 (Electronic)
IS  - 1865-5785 (Linking)
VI  - 16
IP  - 1
DP  - 2023 Mar
TI  - Mixed-phenotype acute leukemia, T/megakaryoblastic: does it really exist?
PG  - 49-55
LID - 10.1007/s12308-023-00535-w [doi]
AB  - Mixed-phenotype acute leukemias (MPAL) account for < 4% of all cases of acute 
      leukemias. These are a heterogeneous group of leukemias grouped together by the 
      WHO classification as "rare subtypes." The diagnosis and treatment of MPAL is 
      extremely challenging particularly for low middle income countries. Of these, 
      B/myeloid and T/myeloid combinations are relatively common subtypes. However, 
      megakaryoblastic and erythroid lineages in combination with other lineages are 
      still rare enough to not even be addressed in the WHO classification. To date, 
      there have been only a few reports of mixed B or T cell and megakaryocytic or 
      mixed B or T cell and erythroid leukemias. We report the clinical presentation, 
      diagnostic profile, and disease course of MPAL cases with a biphenotypic pattern 
      consistent with T/megakaryoblastic lineage which is not yet defined in WHO 
      classification. These cases were phenotyped using 8-color flow cytometry (BD FACS 
      CANTO-II) using an extensive panel of markers. Interphase fluorescence in situ 
      hybridization (FISH) was done using dual color dual fusion probes for BCR::ABL1, 
      RUNX1::RUNX1T1, and ETV6::RUNX1, while MLL and CBFB gene rearrangement was tested 
      by break-apart probes. Karyotyping was performed using the conventional 
      GTG-banding technique. Both FISH and karyotyping were analyzed by the automated 
      cell imaging system Leica Biosystems, using Cytovision MB8. The cases presented 
      here satisfy the criteria for both T-lineage assignment (cyCD3 intensity reaches 
      that of normal T-lymphocytes) and acute megakaryoblastic leukemia (>/= 1 
      megakaryocytic marker in > 50% blasts) and thus represent the first documented 
      examples of this unusual entity from Pakistan. It is crucial to report these 
      cases to gather more data about clinical presentation, diagnostic profile, and 
      disease course. Additionally, the reported cases highlight the limitations of 
      existing classifications which do not address rare subtypes. More importantly, 
      T/megakaryoblastic MPAL needs to be included in the WHO classification as a 
      separate entity.
CI  - (c) 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, 
      part of Springer Nature.
FAU - Mansoor, Neelum
AU  - Mansoor N
AUID- ORCID: 0000-0003-1650-0694
AD  - Department of Hematology & Blood Center, Indus Hospital & Health Network, Korangi 
      Campus Plot C-76, Sector 31/5, Opposite Darussalam Society Korangi Crossing, 
      Karachi, Pakistan. neelum.mansoor@tih.org.pk.
FAU - Javed, Omer
AU  - Javed O
AD  - Department of Hematology & Blood Center, Indus Hospital & Health Network, Korangi 
      Campus Plot C-76, Sector 31/5, Opposite Darussalam Society Korangi Crossing, 
      Karachi, Pakistan.
FAU - Rafiq, Naila
AU  - Rafiq N
AD  - Department of Pediatric Oncology, Indus Hospital & Health Network, Karachi, 
      Pakistan.
FAU - Aali, Anila
AU  - Aali A
AD  - Department of Hematology & Blood Center, Indus Hospital & Health Network, Korangi 
      Campus Plot C-76, Sector 31/5, Opposite Darussalam Society Korangi Crossing, 
      Karachi, Pakistan.
FAU - Meraj, Fatima
AU  - Meraj F
AD  - Department of Hematology & Blood Center, Indus Hospital & Health Network, Korangi 
      Campus Plot C-76, Sector 31/5, Opposite Darussalam Society Korangi Crossing, 
      Karachi, Pakistan.
LA  - eng
PT  - Journal Article
DEP - 20230301
PL  - Germany
TA  - J Hematop
JT  - Journal of hematopathology
JID - 101491976
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
SB  - IM
MH  - Humans
MH  - Core Binding Factor Alpha 2 Subunit/genetics
MH  - In Situ Hybridization, Fluorescence
MH  - *Leukemia
MH  - Disease Progression
MH  - *Leukemia, Megakaryoblastic, Acute/diagnosis
MH  - Phenotype
OTO - NOTNLM
OT  - Erythroid lineage
OT  - Flow cytometry
OT  - Megakaryoblastic
OT  - Mixed-phenotype acute leukemia
OT  - WHO classification
EDAT- 2024/01/04 12:42
MHDA- 2024/01/05 06:43
CRDT- 2024/01/04 11:19
PHST- 2022/11/25 00:00 [received]
PHST- 2023/02/20 00:00 [accepted]
PHST- 2024/01/05 06:43 [medline]
PHST- 2024/01/04 12:42 [pubmed]
PHST- 2024/01/04 11:19 [entrez]
AID - 10.1007/s12308-023-00535-w [pii]
AID - 10.1007/s12308-023-00535-w [doi]
PST - ppublish
SO  - J Hematop. 2023 Mar;16(1):49-55. doi: 10.1007/s12308-023-00535-w. Epub 2023 Mar 
      1.