PMID- 35167894
OWN - NLM
STAT- MEDLINE
DCOM- 20220427
LR  - 20220531
IS  - 1532-8392 (Electronic)
IS  - 0046-8177 (Linking)
VI  - 123
DP  - 2022 May
TI  - Distinct pathologic feature of myeloid neoplasm with t(v;11p15); NUP98 
      rearrangement.
PG  - 11-19
LID - S0046-8177(22)00032-6 [pii]
LID - 10.1016/j.humpath.2022.02.004 [doi]
AB  - Chromosome rearrangements involving NUP98 at 11p15 are rare but recurring 
      abnormalities in acute myeloid leukemia (AML). Here we described 12 cases of 
      myeloid neoplasms with t(v; 11p15); NUP98 rearrangement and characterized their 
      pathologic features. Our patient cohort included 10 adults and 2 children with a 
      median age of 51 years. They were predominantly AML (n = 10) including de novo 
      AML, therapy-related AML, chronic myeloid leukemia with myeloid blast crisis, and 
      mixed phenotype acute leukemia, as well as therapy-related myelodysplastic 
      syndrome (MDS) and MDS/myeloproliferative neoplasm with increased blasts. The 
      blasts shared some common features including pink/red cytoplasmic granules, 
      presence of a perinuclear hof, Auer rods, and occasional bilobed nuclei, 
      mimicking acute promyelocytic leukemia (APML). Flow cytometric studies showed 
      blasts positive for MPO, CD117, CD13 and CD33, with a subset of cases negative 
      for CD34 and/or HLA-DR and a subset of cases expressing monocytic markers. The 
      translocations of 11p15 included t(7; 11) (p15; p15), t(2; 11) (q31; p15), t(9; 
      11) (p22; p15), t(5; 11) (q32; p15), and t(11; 12) (p15; q13). Three cases showed 
      cryptic NUP98 rearrangement. These patients showed incomplete response to therapy 
      with median overall survival of 17.5 months, a complete remission rate of 25% 
      following chemotherapy induction and primary refractory disease of 58%. It is 
      clinically important to recognize this group of diseases because the blasts can 
      be misclassified as promyelocytes, and NUP98 rearrangement may be cryptic 
      requiring fluorescence in situ hybridization (FISH) study. This case series 
      highlights that NUP98-rearranged myeloid neoplasms are clinically, 
      morphologically, and cytogenetically distinct and could be considered as a 
      separate entity in the WHO classification defined by cytogenetic abnormality.
CI  - Copyright (c) 2022 Elsevier Inc. All rights reserved.
FAU - Lauw, Marietya I S
AU  - Lauw MIS
AD  - Department of Pathology and Laboratory Medicine, University of California, San 
      Francisco, CA, 94143, USA.
FAU - Qi, Zhongxia
AU  - Qi Z
AD  - Department of Laboratory Medicine, University of California, San Francisco, San 
      Francisco, CA, 94143, USA.
FAU - Eversmeyer, Lauren
AU  - Eversmeyer L
AD  - Department of Pathology and Laboratory Medicine, University of California, San 
      Francisco, CA, 94143, USA.
FAU - Prakash, Sonam
AU  - Prakash S
AD  - Department of Laboratory Medicine, University of California, San Francisco, San 
      Francisco, CA, 94143, USA.
FAU - Wen, Kwun Wah
AU  - Wen KW
AD  - Department of Pathology and Laboratory Medicine, University of California, San 
      Francisco, CA, 94143, USA.
FAU - Yu, Jingwei
AU  - Yu J
AD  - Department of Laboratory Medicine, University of California, San Francisco, San 
      Francisco, CA, 94143, USA.
FAU - Monaghan, Sara A
AU  - Monaghan SA
AD  - Department of Pathology, University of Pittsburgh, School of Medicine, 
      Pittsburgh, PA, 15213, USA.
FAU - Aggarwal, Nidhi
AU  - Aggarwal N
AD  - Department of Pathology, University of Pittsburgh, School of Medicine, 
      Pittsburgh, PA, 15213, USA.
FAU - Wang, Linlin
AU  - Wang L
AD  - Department of Laboratory Medicine, University of California, San Francisco, San 
      Francisco, CA, 94143, USA. Electronic address: Linlin.Wang@ucsf.edu.
LA  - eng
PT  - Journal Article
DEP - 20220212
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
RN  - 0 (Nuclear Pore Complex Proteins)
RN  - 0 (Nup98 protein, human)
RN  - 0 (nuclear pore complex protein 98)
SB  - IM
MH  - Chromosome Aberrations
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - *Leukemia, Myeloid, Acute/genetics
MH  - Middle Aged
MH  - *Myeloproliferative Disorders/genetics
MH  - Nuclear Pore Complex Proteins/genetics
MH  - Translocation, Genetic
OTO - NOTNLM
OT  - Morphology
OT  - Myeloid neoplasm
OT  - NUP98 FISH
OT  - NUP98 rearrangement
OT  - t(v;11p15)
EDAT- 2022/02/16 06:00
MHDA- 2022/04/28 06:00
CRDT- 2022/02/15 20:12
PHST- 2021/11/23 00:00 [received]
PHST- 2022/01/30 00:00 [revised]
PHST- 2022/02/07 00:00 [accepted]
PHST- 2022/02/16 06:00 [pubmed]
PHST- 2022/04/28 06:00 [medline]
PHST- 2022/02/15 20:12 [entrez]
AID - S0046-8177(22)00032-6 [pii]
AID - 10.1016/j.humpath.2022.02.004 [doi]
PST - ppublish
SO  - Hum Pathol. 2022 May;123:11-19. doi: 10.1016/j.humpath.2022.02.004. Epub 2022 Feb 
      12.