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Letters to the Editor
762
haematologica | 2022; 107(3)
Table 2. Previously reported IMD-cases without germline (mosaic) trisomy 21 from literature
UPNref
Age
Sex Clinical presentation1
FAB/IF
Genetic tests
Germline
Somatic
Treatment
CR/event
Vital status (FU time)
16a
Newborn
F None
Not specific
Karyotype (PB lymphocytes), GATA1 screening
Mosaic trisomy 122
GATA1
None
CR
Alive (3 months) Alive (3 years) Alive (5 years) Alive (3.8 years)
17b
4 weeks
F None
Immature
Karyotype (also fibroblasts), monoblasts
THPO mutation unclear mutational analyses
None None
Low-dose AraC
CR
18c
6 weeks
M HSM
N/A
N/A
Familial thrombo- cytosis (THPO)
None
CR
19d 20e
2 months Newborn
M HSM F None
Myelo-monocytic Myelo-monocytic
Karyotype, RT-PCR, FISH DNA sequencing
NS (clinical diagnosis)
None None
None None
CR
CR N/A
21f
12 days
F None
Myeloid Myeloid Myeloid,
Karyotype, FISH, GATA1-analysis, SNP-array, WES (also in CR)
NSD1 mutation (Sotos syndrome)5
Del(8) (q23.2q24) & del(5)(q31.1q31.3)
None None None None
CR; AML (11 months), Alive CT
22g
6 days
M HSM
Karyotype#, FISH (also in CR)
Chr.6 duplication within q25.3-q26
T213
CR
N/A
23h
Newborn
M None
megakaryocytic Myeloid M7
Karyotype, FISH (also skin fibroblasts)
Yqs4
T21; At 3 months: del(13)(q13q31)
CR; leukemia (20 months), CT
N/A
24i 25j
Newborn Newborn
M None M HSM
Karyotype, FISH (also in CR)
Normal Normal
T21, GATA1 mutation T21, GATA1 mutation
CR CR
Alive (2.5 years) N/A
26k 27l
Newborn Newborn
M None M HSM
Myeloid Myeloid
Karyotype, GATA1-analysis (also in CR)
Normal Normal
T21, GATA1 mutation T21, GATA1 mutation
None None
CR; AML ,(7 months) Alive (6 years) CT; ML-DS protocol
28m 29-36n
5 days Neonate
F HM
M0/M7 N/A
Karyotype (also skin fibroblasts), FISH, PCR
Normal Normal
T21, GATA1 mutation T21, GATA1 mutation
None
CR
Alive (7 months) N/A
37o
Newborn
F HSM
Myeloid
FISH, GATA1-analyses
Normal
T21, GATA1 mutation
Low-dose AraC
CR
Alive (3 years)
F N/A (n=4)
Karyotype (also in CR), FISH (PB in CR, skin or buccal)
None (n=3), Low-dose AraC (n=4)
CR; progression to AML (n=2)
M (n=3)
Karyotype, PCR, RT-PCR, FISH (also oral mucosa and skin fibroblasts)
Low-dose AraC
FISH (also buccal mucosal cells, urine epithelial cells and hair follicles)
CR
Alive (2 years)
PTPN11 mutation (NS) (also hair follicles)
Table 2. Continued on following page.