PMID- 34589360
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20211001
IS  - 2168-8184 (Print)
IS  - 2168-8184 (Electronic)
IS  - 2168-8184 (Linking)
VI  - 13
IP  - 8
DP  - 2021 Aug
TI  - 5q Deletion Myelodysplastic Syndrome in a Young Male Patient.
PG  - e17466
LID - 10.7759/cureus.17466 [doi]
LID - e17466
AB  - Myelodysplastic syndromes (MDS) are a diverse group of hematopoietic stem cell 
      malignancies with various phenotypic variability that are categorized by abnormal 
      differentiation of one or multiple cell lines of the bone marrow. A large part of 
      the phenotypic heterogeneity is in part due to the wide set of genetic defects 
      related to MDS. Though clinically, MDS is centered on diagnostic measures that do 
      not incorporate molecular genetic data, an isolated deletion of the long arm of 
      chromosome 5 (del(5q)) is the only subset of MDS to be identified by genetic 
      defects. This distinctive phenotype is termed 5q-syndrome. We report a case of a 
      25-year-old with a past medical history of polydactyly, severe anemia, and 
      thrombocytopenia who presented to the emergency department with a chief complaint 
      of weakness and fatigue. Bone marrow biopsy showed myeloid neoplasm with complex 
      genetic abnormalities, nearly 100% hyperplastic marrow with marked trilineage 
      dysplasia, relative myeloid hyperplasia with increased abnormal eosinophilic 
      precursors, erythroid left shift, and atypical megakaryocytes. Fluorescence in 
      situ hybridization (FISH) panel showed deletion of 5q-. Herein, we address the 
      clinical course and morphological characteristics as well as possible therapeutic 
      options for 5q syndrome.
CI  - Copyright (c) 2021, Elkattawy et al.
FAU - Elkattawy, Sherif
AU  - Elkattawy S
AD  - Internal Medicine, Rutgers-New Jersey Medical School/Trinitas Regional Medical 
      Center, Elizabeth, USA.
FAU - Ayad, Sarah
AU  - Ayad S
AD  - Internal Medicine, Rutgers-New Jersey Medical School/Trinitas Regional Medical 
      Center, Elizabeth, USA.
FAU - El-Feki, Iman
AU  - El-Feki I
AD  - Internal Medicine, St. George's University, West Indies, GRD.
FAU - Guo, Xutong
AU  - Guo X
AD  - Internal Medicine, St. George's University, West Indies, GRD.
FAU - Appiah-Kubi, Edmund
AU  - Appiah-Kubi E
AD  - Internal Medicine, St. George's University, West Indies, GRD.
FAU - Talpur, Afrah
AU  - Talpur A
AD  - Internal Medicine, Rutgers-New Jersey Medical School/Trinitas Regional Medical 
      Center, Elizabeth, USA.
FAU - Kessler, William
AU  - Kessler W
AD  - Hematology and Medical Oncology, Rutgers-New Jersey Medical School/Trinitas 
      Regional Medical Center, Elizabeth, USA.
LA  - eng
PT  - Case Reports
DEP - 20210826
PL  - United States
TA  - Cureus
JT  - Cureus
JID - 101596737
PMC - PMC8464316
OTO - NOTNLM
OT  - 5q deletion
OT  - anemia
OT  - lenalidomide
OT  - myelodysplastic syndrome
OT  - thrombocytopenia.
COIS- The authors have declared that no competing interests exist.
EDAT- 2021/10/01 06:00
MHDA- 2021/10/01 06:01
PMCR- 2021/08/26
CRDT- 2021/09/30 07:15
PHST- 2021/08/26 00:00 [accepted]
PHST- 2021/09/30 07:15 [entrez]
PHST- 2021/10/01 06:00 [pubmed]
PHST- 2021/10/01 06:01 [medline]
PHST- 2021/08/26 00:00 [pmc-release]
AID - 10.7759/cureus.17466 [doi]
PST - epublish
SO  - Cureus. 2021 Aug 26;13(8):e17466. doi: 10.7759/cureus.17466. eCollection 2021 
      Aug.