Page 207 - 2022_03-Haematologica-web

Letters to the Editor
haematologica | 2022; 107(3)
763
UPNref Age
Sex Clinical presentation1
FAB/IF
Genetic tests
Germline
Somatic
Treatment CR/event Vital status (FU time)
38-39p Newborn (twins)
F None
Myeloid Megakaryocytic
FISH, karyotype, NGS (35 myeloid genes)
Normal Normal
T21, GATA1 mutation
None CR Alive (1.5 years)
40-41q Newborn Newborn
F HSM MHM
Karyotype (also in CR), PCR GATA1
T21, GATA1 mutation
None CR; MDS (14 months),
N/A
42r Newborn
M HSM
Myeloid, AML M2
Karyotype
(also in skin fibroblast)
Normal
T21, +223
None CR; AML (7 months,) t(1;10),
Alive (5 years)
43r Newborn 44-51s 1-30 days
M CL N/A CL (n=6)
Immature myeloid M4/M5
Karyotype (repeated in CR)
Normal Normal
T21 t(8;16)(p11.2;p13.3)
+16, +21, +22, CT None CR
Alive (5 years)
52t Newborn 53u Newborn 54v Newborn
F CL
M None
M Blasts in cerebral
Karyotype, FISH (also in CR), molecular testing
Normal
Cryptic t(8;16)(p11.2; p13.3) insertional translocation
CT, SCT (n=1) None CR
55w Newborn
M HSM, CL
Megakaryocytic F
ISH, WES, whole transcriptome sequencing
Normal
GATA1, JAK1, SPIRE2 & FN1 mutation
None CR N/A
spinal fluid
Karyotype, FISH, BAC-array, SNP-array
13q12.11 deletion (300 kb; 3 genes: GJB6, MIR4499, CRYL1)
Del(3)(q21.2q23), del(7)(q22.1q31.1), del(7)(q31.1q31.2), del(7)(q36.1) & del(8)(q23.2q24)
M4 (myeloid sarcoma)
Alive (23 months) Alive (2 years) Alive (3 years)
Megakaryocytic M7
Karyotype, FISH, chromosomal microarray, GATA1-analysis on UCB
None found
None found
None CR None CR
Karyotype, FISH or RT-PCR
None CR; recurrence <48 months (n=4)
Alive (n=6; variable FU) Died (n=1)
1Checked for hepatosplenomegaly (HSM), intravascular coagulation, cutaneous lesions (CL), CNS - central nervous system involvement or other extramedullary disease. 2Uncertain whether this was germline mosaic. 3GATA1 not tested. 4Satellited Y chro- mosome. 5This case was previously described, at that time Sotos diagnosis was not known yet (WES was performed after). AML: acute myeloid leukemia; araC = cytarabine; BAC: bacterial artificial chromosome; CR: complete remission; CT: chemotherapy; F: female; FAB: French-American-British classification; FISH: fluorescence in situ hybridization; FU: follow-up; HM: hepatomegaly; IF: immunophenotype markers; IMD: infantile myeloproliferative disease (unrelated to Down syndrome); M: male; MDS: myelodysplastic syndrome; ML-DS: myeloid leukemia related to Down syndrome; N/A: data not available; NGS: next generation sequencing; NS: Noonan syndrome; PB: peripheral blood; PCR: polymerase chain reaction; RT-PCR: reverse transcription PCR; SCT: stem cell transplantation; SNP: single nucleotide polymorphism; T21: trisomy 21; UCB: umbilical cord blood; UPN: unique patient number; WES: whole exome sequencing.
aBasu B et al. Pediatr. Hematol. Oncol. 2010; bHouwing ME et al. Int. J. Hematol. 2015; cVan Dijken et al. Acta Paediatr. 1996; dSilvio F et al. J Pediatr Hematol Oncol. 2002; eMalone A et al. Br. J. Haematol. 2017; fBertrums EJM et al. Pediatr. Blood Cancer. 2017; gRichards M et al. Arch. Dis. Child. Fetal Neonatal Ed. 1998; hPolski JM et al. J Pediatr Hematol Oncol. 2002; iRozen L et al. Eur. J. Pediatr. 2014; jOhkawa T et al. Pediatr Int. 2015; kOno R et al. Eur. J. Pediatr. 2015; lCarruthers V et al. J. Paediatr. Child Health. 2017; mSalvatori G et al. Oncol. Lett. 2017; nYuzawa K et al. Pediatr. Blood Cancer. 2020; oDosedla E et al. Actual Gyn. 2019; pRoseman AS et al. Cancer Genet. 2020; qTsai MH et al. Indian J Pediatr. 2011; rApollonsky N et al. J Pediatr Hematol Oncol. 2008; sCoenen EA et al. Blood 2013; tBarrett R et al. Pediatr. Blood Cancer. 2017; uNakashima et al. Pediatr. Blood Cancer. 2015; vSchifferli A et al. Eur. J. Haematol. 2015; wLukes J et al. Leukemia. 2020.
leukemia (17 months) CT CR
Alive (16 months)