A new case of adult Acute Myeloid Leukemia with isolated tetrasomy 4p

S Steven Richebourg, Mélanie Fortin, Geneviève Gallagher, Eric Winstall, Simon Jacob  

Laboratoire de Cytogénétique onco-hématologique, département de pathologie, Hôpital Saint Sacrement, CHU de Québec - Université Laval (SR, MF, SJ); Département de médecine moléculaire, Faculté de Médecine, Université Laval (SR); Service d hématologie clinique, Hôpital de l Enfant Jésus, CHU de Québec - Université Laval (GG); Laboratoire de biologie moléculaire, Hôpital du Saint Sacrement, CHU de Québec - Université Laval (EW). Steven.richebourg.cha@ssss.gouv.qc.ca; Melanie.fortin.cha@ssss.gouv.qc.ca; Genevieve.gallagher.cha@ssss.gouv.qc.ca; Eric.winstall.cha@ssss.gouv.qc.ca; Simon.Jacob.cha@ssss.gouv.qc.ca

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-
Main items
No relevant medical history

Clinics case report

Age
65 yrs
Sex
M
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Wbc
17,49
Hb
8,9
Platelets
117
Blasts
15
Bone marrow
Not performed

Cyto path

Phenotype
Acute Myeloid Leukemia
Immunophenotype
f peripheral blood blast cells CD34+,HLA-DR+,CD13+,CD33+,CD117+,CD11c+,CD4+
Rearranged ig tcr
Not performed
Pathology
Not performed
Electron microscopy
Not performed
Precise diagnosis
Acute Myeloid Leukaemia, NOS

Survival data

Date diagnosis
08-2015
Treatment
IDAC induction followed by 4 HDAC consolidations
Complete remission
+
Treatment relat death
-
Relapse
-
Status
A
Date last follow
02-2016
Survival
6 (still alive)

Karyotype

Sample
peripheral blood
Culture time
24 colchicine over-night, 24 hours and 48 hours with GM-CSF
Banding
GTG
Results
47,XY,+i(4)(p10)[6]/46,XY[14]
Mol cytogenet technics
Fluorescent in situ hybridization using KMT2A Break Apart probe (Cytocell LPH013) and FGFR3-IGH Dual Fusion probe (Cytocell LPH030)
Mol cytogenet results
ish i(4)(p10)(FGFR3++)[3].nuc ish(KMT2Ax2)[99/100]

Other molec studies

Technics
RT-PCR assays on blood sample demonstrating the absence of BCR-ABL1, RUNX1T1-RUNX1, CBFb-MYH11 and PML-RARA transcripts; PCR assays on blood sample demonstrating the presence of NPM1 mutation and the absence of FLT3-ITD mutation.

Images

Atlas Image
Figure 1: GTG karyotype demonstrating the gain of an isochromosome 4p
Atlas Image
Figure 2: Metaphase plate FISH study using the FGFR3-IGH Dual Fusion probe (Cytocell LPH030) probe demonstrates the presence of 4 FGFR3 orange signals including two signals on the supernumerary isochromosome 4p.

Comments section

Comments

Table 1: cases of i(4)(p10) reported in myeloid neoplasms (M : male; F : Female; CR : complete remission)

Article Bibliography

Pubmed IDLast YearTitleAuthors
69441531981Cytogenetic follow-up of patients with nonlymphocytic leukemia. II. Acute nonlymphocytic leukemia.Hagemeijer A et al
78895031995Supernumerary isochromosome 4p in ANLL-M4 myelomonocytic type is associated with favorable prognosis.Hoo JJ et al
104849841999A group of previously not recognized cytogenetic abnormalities in myeloid hematological malignancies.Chen Z et al
198804972010Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet.Döhner H et al
208635642010Double supernumerary isochromosome 4p in acute myelomonocytic leukemia.Soriani S et al

Citation

S Steven Richebourg, Mélanie Fortin, Geneviève Gallagher, Eric Winstall, Simon Jacob

A new case of adult Acute Myeloid Leukemia with isolated tetrasomy 4p

Atlas Genet Cytogenet Oncol Haematol. 2016-05-01

Online version: http://atlasgeneticsoncology.org/case-report/208883/gene-explorer/case-report-explorer/welcome