Translocation t(8;9)(p12;q33) detected in cALL: A case report

2011-03-01  Melanie Zenger, Claudia Haferlach

MLL Munchner Leukamielabor GmbH, Max-Lebsche-Platz 31, 81377 Munchen, Germany

Previous history

Preleukaemia
-
Malignant disease
-
Inborn condition
-

Clinics case report

Age
85 yrs
Sex
F
Liver
-
Spleen
-
Lymph nodes
-
Cns involv
-

Blood data

Blasts
49

Cyto path

Cytology
cALL
Immunophenotype
Positive for CD10, CD19, HLA-DR, CD34 and cytoplasmatic TdT; CD20 is expressed on 1% of the cells; additionally, there is abnormal coexpression of CD33 and CD13.
Rearranged ig tcr
no
Pathology
-
Precise diagnosis
cALL

Survival data

Date diagnosis
02-2010
Treatment
Vincristine and Dexamethasone
Complete remission
-
Treatment relat death
-
Relapse
-
Status
D
Survival
8

Karyotype

Sample
Bone marrow
Culture time
24/48
Banding
G-banding
Results
46,XX,t(8;9)(p12;q33)[14/20]
Mol cytogenet technics
FISH with WCP probes for chromosomes 8 and 9; FISH with BAC clones RP11-513D5 and RP11-359P11.
Mol cytogenet results
FGFR1-CEP110-fusion detected using RT-PCR.

Images

Atlas Image
Atlas Image

Comments section

Comments
Here, we report a rare case of a t(8;9)(p12;q33) in a patient with c-ALL. The peripheral blood was infiltrated with CD10+, CD19+, CD34+, HLA-DR+ as well as cytoplasmatic TdT+, CD79a+ and CD22+ lymphoblasts. Additionally, cells showed abnormal coexpression of CD33 and CD13. Chromosome banding analysis revealed a 46,XY,t(8;9)(p12;q33) karyotype, and a FGFR1-CEP110 fusion transcript was detected by reverse transcription-polymerase chain reaction (RT-PCR). Patients with a t(8;9)(p12;q33) that have been published so far showed either a myeloid or biphenotypic malignancy, often presenting a myeloproliferative neoplasia or a myeloproliferative neoplasia in transformation (Chaffanet et al., 1998; Guasch et al., 2000; Sohal et al., 2001; Yamamoto et al., 2006; Mozziconacci et al., 2008; Park et al., 2008). Contrary to previous reports we did not observe myeloid involvement in our patient. Both the EGIL criteria for biphenotypic acute leukemia as well as the WHO classification for mixed phenotype acute leukaemia are not met here (Bene et al., 1995; Swerdlow et al., 2008). Thus, this is -to our knowledge- the first description of a patient with a t(8;9)(p12;q33), who presented solely with a lymphoid malignancy.

Article Bibliography

Pubmed IDLast YearTitleAuthors
75645261995Proposals for the immunological classification of acute leukemias. European Group for the Immunological Characterization of Leukemias (EGIL).Bene MC et al
94847861998t(6;8), t(8;9) and t(8;13) translocations associated with stem cell myeloproliferative disorders have close or identical breakpoints in chromosome region 8p11-12.Chaffanet M et al
106888392000FGFR1 is fused to the centrosome-associated protein CEP110 in the 8p12 stem cell myeloproliferative disorder with t(8;9)(p12;q33).Guasch G et al
115502832001Identification of four new translocations involving FGFR1 in myeloid disorders.Sohal J et al
168796082006A biphenotypic transformation of 8p11 myeloproliferative syndrome with CEP1/FGFR1 fusion gene.Yamamoto K et al
180962252008Common features of myeloproliferative disorders with t(8;9)(p12;q33) and CEP110-FGFR1 fusion: report of a new case and review of the literature.Mozziconacci MJ et al
1829566020088p11 myeloproliferative syndrome preceded by t(8;9)(p11;q33), CEP110/FGFR1 fusion transcript: morphologic, molecular, and cytogenetic characterization of myeloid neoplasms associated with eosinophilia and FGFR1 abnormality.Park TS et al

Citation

Melanie Zenger, Claudia Haferlach

Translocation t(8;9)(p12;q33) detected in cALL: A case report

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/case-report/208852/translocation-t(8