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CASE REPORTS in HAEMATOLOGY
(Paper co-edited with the European LeukemiaNet)
A new case of adult Acute Myeloid Leukemia with isolated tetrasomy 4p
 
Written2016-05Steven 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
Clinics
Age and sex : 65 year(s) old male patient.
Previous History : no preleukemia
no previous malignant disease
no inborn condition of note
Organomegaly : no hepatomegaly ; no splenomegaly ; no enlarged lymph nodes ; no central nervous system involvement
Blood
WBC : 17 x 109/L (49); Hb : 8 g/dL (9); platelets : 117 x 109/L; blasts : 15 % .
Bone marrow : Not performed
Cyto pathology classification
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
Date of diagnosis: 08-2015
Treatment : IDAC induction followed by 4 HDAC consolidations
Complete remission was obtained
Treatment related death : -
Relapse : -
Status : Alive 02-2016
Survival : 6 month(s)
Karyotype
Sample : peripheral blood ; culture time : 24 h, colchicine over-night, 24 hours and 48 hours with GM-CSF ; banding : GTG
Results : 47,XY,+i(4)(p10)[6]/46,XY[14]
Other molecular cytogenetics technics : Fluorescent in situ hybridization using KMT2A Break Apart probe (Cytocell LPH013) and FGFR3-IGH Dual Fusion probe (Cytocell LPH030)
Other molecular cytogenetics results : ish i(4)(p10)(FGFR3++)[3].nuc ish(KMT2Ax2)[99/100]
Other molecular 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.
Figure 1: GTG karyotype demonstrating the gain of an isochromosome 4p
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
We here present a new case of supernumerary i(4)(p10) in a case of male adult AML. According to the literature, this is the seventh case reported in a context of myeloid neoplasm, the last one described in the atlas by Desangles et al.,2013 (Hagemeijer et al., 1981; Hoo et al., 1995; Chen et al., 1999; Soriani et al., 2010).
Despite the rarity of this abnormality, it is interesting to note that common features arise from the reviewed cases (table 1). At first, there is a strong association with male sex, since six of the seven patients were male. Secondly, among the AML cases, it seems there is an association with a monocytic differentiation: indeed three of the four precedent cases were classified into acute myelomonocytic leukemia and in the present case, despite the absence bone marrow evaluation and the absence of peripheral monocytosis, the expression of CD4 and CD11c on blast cells demonstrated by flow cytometry is consistent with this observation.
Regarding the prognostic significance of this abnormality, the limited number of cases and the absence of long term follow-up don't allow to draw any formal conclusion. The only case of relapse reported concerns an AML4 case harboring a double supernumerary isochromosome 4p (Soriani et al., 2010). Without additional prognostic data, this abnormality should be classified into the intermediate subgroup according to the ELN classification (Döhner et al., 2010).
The prevalent mechanism proposed to explain the oncogenic impact of the presence of a supernumerary i(4)(p10) is dosage effect of oncogenes located on the short arm of chromosome 4 (Chen et al., 1999; Soriani et al., 2010)

 

Date

age

sex

FAB

CR

Follow-up

Case 1

1981

63

M

AML4

yes

6 months

Case 2

1995

46

M

AML4

yes

12 months

Case 3

1997

32

M

AML2

-

-

Case 4

1997

60

F

RAEB-T

-

-

Case 5

2010

43

M

AML4

yes

12 months

Case 6

2013

79

M

RAEB2

no

4 months

Case 7

2015

65

M

AML

yes

7 months


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

Internal links
Case ReportA case of sole i(4)(p10) in myelodysplastic syndrome
Bibliography
Cytogenetic follow-up of patients with nonlymphocytic leukemia
Hagemeijer A, Hählen K, Abels J
II Acute nonlymphocytic leukemia
PMID 6944153
 
Supernumerary isochromosome 4p in ANLL-M4 myelomonocytic type is associated with favorable prognosis
Hoo JJ, Gregory SA, Jones B, Szego K
Cancer Genet Cytogenet 1995 Feb;79(2):127-9
PMID 7889503
 
A group of previously not recognized cytogenetic abnormalities in myeloid hematological malignancies
Chen Z, Richkind K, Roherty S, Velasco J, Lytle C, Brothman AR, Sandberg AA
Cancer Genet Cytogenet 1999 Sep;113(2):162-5
PMID 10484984
 
Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet
Döhner H, Estey EH, Amadori S, Appelbaum FR, Büchner T, Burnett AK, Dombret H, Fenaux P, Grimwade D, Larson RA, Lo-Coco F, Naoe T, Niederwieser D, Ossenkoppele GJ, Sanz MA, Sierra J, Tallman MS, Löwenberg B, Bloomfield CD; European LeukemiaNet
Blood 2010 Jan 21;115(3):453-74
PMID 19880497
 
Double supernumerary isochromosome 4p in acute myelomonocytic leukemia Case report on a case of sole i(4)(p10) in myelodysplastic syndrome.
Soriani S, Marbello L, Colosimo A, Scarpati B, Grillo G, Cesana C Desangles F, Servonnet A, Nielly H, Cremades S, Pilo JE.
Leuk Res 2010 Dec;34(12):e342-4 Atlas of Genetics and Cytogenetics in Oncology and Haematology; 2014, Vol. 18, 2; p. 146-149
PMID 20863564
 

Citation

This paper should be referenced as such :
Richebourg S, Fortin M, Gallagher G, Winstall E, Jacob S
A new case of adult Acute Myeloid Leukemia with isolated tetrasomy 4p
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Reports/Tetra4pRichebourgID100085.html

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indexed on : Wed Jan 18 15:23:26 CET 2017


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