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t(11;22)(q13;q13) HRASLS5/PHF21B

Written2014-11Nathalie Douet-Guilbert, Etienne De Braekeleer, Corinne Tous, Nadia Guéganic, Audrey Basinko, Marie-Josée Le Bris, Frédéric Morel, Marc De Braekeleer
Cytogenetics Laboratory, Faculty of Medicine, University of Brest, France / marc.debraekeleer@univ-brest.fr

Abstract Review on t(11;22)(q13;q13), with data on clinics, and the genes involved.

Keywords Acute myeloid leukemia; t(11;22)(q13;q13); HRASLS5; PHF21B

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
ICD-Morpho 9975/3 Chronic myelogenous leukaemia, BCR-ABL1 positive; Myeloproliferative neoplasm, unclassifiable; Myelodysplastic/myeloproliferative neoplasm, unclassifiable
ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1676

Clinics and Pathology

Disease Myeloid hemopathies
Epidemiology Five cases of myeloid hemopathies (myelodysplastic syndrome, acute promyelocytic leukemia, chronic myeloid leukemia, acute erythroleukemia, and acute monoblastic leukemia (FAB type M5b) in an unpublished case herein described) with t(11;22)(q13;q13). No molecular characterization was performed in four cases (Gibbons et al., 1994; Jennings et al., 1998; Mauritzson et al., 2001; Ramkumar et al., 2008).
Clinics A 52-year-old woman seen because of fever and asthenia (present case, and 2 male and 2 female patients, aged 48, 69, 73).
Cytology Bone marrow aspirate showing 23.5% of blasts CD33+, MPO+, CD117+, CD11c+ (present case).
Evolution : Complete remission was not achieved by chemotherapy. She received allogeneic hematopoietic stem cell transplantation 6 months following diagnosis and remained in complete remission 10 months after transplantation.

Cytogenetics

Note A normal 46,XX karyotype was found at diagnosis in the present case. The t(11;22)(q13;q13) was identified during evolution (6 months after diagnosis but before stem cell transplantation). It involves the HRASLS5 and PHF21B genes that have never been shown to form a fusion gene.
Cytogenetics Morphological t(11;22)(q13;q13) is identified by banding cytogenetics.
 
  RHG banding showing chromosomes 11 and 22 and the derivatives der(11) and der(22).
Cytogenetics Molecular To determine the position of the breakpoints on chromosomes 11 and 22, BAC clones located in the bands of interest were used as probes in FISH experiments. Analysis with RP11-449A4, located at 11q13.1, showed a split signal while RP11-660B16 was translocated on chromosome 22. The breakpoint was mapped between positions 63184796 and 63242850, in a 58 kb region that contains 14kb of the HRASLS5 (HRAS-like suppressor family, member 5) gene [UCSC Genome Browser on Human Feb. 2009 (GRCh37/hg19) Assembly]. Analysis with RP11-367O12, located at 22q13.31, showed a split signal that hybridized to both der(11) and der(22). This BAC clone contains the PHF21B (PHD finger protein 21B) gene.

Genes involved and Proteins

Gene Name HRASLS5
Location 11q13.2
Dna / Rna The HRASLS5 gene contains 6 coding exons, spanning 29.8 kb. It is predominantly expressed in testis (Jin et al., 2009).
Protein The protein has 279 amino acids and catalyzes the N-acylation of phosphatidylethanolamine (PE) to generate N-acylphosphatidylethanolamine (NAPE), a precursor of bioactive N-acylethanolamines. Mutagenesis studies suggested a possible role of the N-terminal domain in membrane association or protein-protein interaction (Jin et al., 2009). However, its function(s) remain(s) largely unknown. Whether HRASLS5 is a tumor suppressor involved in the control of cell proliferation as other members, notably HRASLS2, belonging to the same family, remains to be determined (Hughes et al., 2000; Shyu et al., 2008; Uyama et al., 2009).
Gene Name PHF21B
Location 22q13.31
Dna / Rna The PHF21B gene contains 13 coding exons, spanning 127.8 kb, according to the UCSC Genome Browser, but 16 according to the National Center for Biotechnology Information (NCBI). There are 8 probable alternative promoters and transcription produces 13 alternatively spliced mRNAs (http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&q=PHF21B).
Protein The protein has 531 amino acids. It contains one PHD (homeodomain) type zinc finger domain (amino acids 313-357), found in nuclear proteins thought to be involved in chromatin-mediated transcriptional regulation, and a transcription initiation factor TFIIIB, Bdp1 subunit (amino acids 137-267), involved in regulating transcription from RNA polymerase III promoters (http://www.ncbi.nlm.nih.gov/gene/112885). However, its function(s) remain(s) largely unknown.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

Fluorescence in situ hybridisation studies to characterise complete and partial monosomy 7 in myeloid disorders
Gibbons B, Lillington DM, Monard S, Young BD, Cheung KL, Lister TA, Kearney L
Genes Chromosomes Cancer 1994 Aug;10(4):244-9
PMID 7522537
 
The 2A proteins of three diverse picornaviruses are related to each other and to the H-rev107 family of proteins involved in the control of cell proliferation
Hughes PJ, Stanway G
J Gen Virol 2000 Jan;81(Pt 1):201-7
PMID 10640559
 
c-myc locus amplification and the acquisition of trisomy 8 in the evolution of chronic myeloid leukaemia
Jennings BA, Mills KI
Leuk Res 1998 Oct;22(10):899-903
PMID 9766750
 
cDNA cloning and characterization of human and mouse Ca(2+)-independent phosphatidylethanolamine N-acyltransferases
Jin XH, Uyama T, Wang J, Okamoto Y, Tonai T, Ueda N
Biochim Biophys Acta 2009 Jan;1791(1):32-8
PMID 19000777
 
The prognostic impact of karyotypic subgroups in myelodysplastic syndromes is strongly modified by sex
Mauritzson N, Johansson B, Rylander L, Albin M, Strömberg U, Billström R, Ahlgren T, Mikoczy Z, Mitelman F, Hagmar L, Nilsson PG
Br J Haematol 2001 May;113(2):347-56
PMID 11380398
 
Acute promyelocytic leukemia after mitoxantrone therapy for multiple sclerosis
Ramkumar B, Chadha MK, Barcos M, Sait SN, Heyman MR, Baer MR
Cancer Genet Cytogenet 2008 Apr 15;182(2):126-9
PMID 18406875
 
Cloning and functional characterization of the HRASLS2 gene
Shyu RY, Hsieh YC, Tsai FM, Wu CC, Jiang SY
Amino Acids 2008 Jun;35(1):129-37
PMID 18163183
 
Characterization of the human tumor suppressors TIG3 and HRASLS2 as phospholipid-metabolizing enzymes
Uyama T, Jin XH, Tsuboi K, Tonai T, Ueda N
Biochim Biophys Acta 2009 Dec;1791(12):1114-24
PMID 19615464
 

Citation

This paper should be referenced as such :
Douet-Guilbert N, De Braekeleer E, Tous C, Guéganic N, Basinko A, Le Bris MJ, Morel F, De Braekeleer M
t(11;22)(q13;q13) HRASLS5/PHF21B;
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1122q13q13ID1676.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(11;22)(q13;q13) HRASLS5/PHF21B

External links

Mitelman databaset(11;22)(q13;q13) [Case List]    t(11;22)(q13;q13) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9861/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9975/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMapTopo ( C42) Morph ( 9989/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
 
Disease databaset(11;22)(q13;q13) HRASLS5/PHF21B
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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