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Case Report Section
Paper co-edited with the European LeukemiaNet
Translocation t(8;9)(p12;q33) detected in cALL:
A case report
Melanie Zenger, Claudia Haferlach
MLL Munchner Leukamielabor GmbH, Max-Lebsche-Platz 31, 81377 Munchen, Germany (MZ, CH)
Published in Atlas Database: March 2011
Online updated version : http://AtlasGeneticsOncology.org/Reports/t89p12q33ZengerID100054.html
DOI: 10.4267/2042/46041
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2011 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Clinics
Survival
Age and sex
85 years old female patient.
Previous history
No preleukemia. No previous malignancy. No inborn
condition of note.
Organomegaly
No hepatomegaly, no splenomegaly, no enlarged lymph
nodes, no central nervous system involvement.
Date of diagnosis: 02-2010
Treatment: Vincristine and Dexamethasone
Complete remission : no
Treatment related death : no
Relapse : no
Status: Death.
Survival: 8 months
Karyotype
Blood
Sample: Bone marrow
Culture time: 24/48 h
Banding: G-banding
Results
46,XX,t(8;9)(p12;q33)[14/20]
Other molecular cytogenetics technics
FISH with WCP probes for chromosomes 8 and 9;
FISH with BAC clones RP11-513D5 and RP11359P11.
Other molecular cytogenetics results
FGFR1-CEP110-fusion detected using RT-PCR.
Blasts : 49%
Cyto-Pathology
Classification
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: Diagnosis: cALL
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10)
902
Translocation t(8;9)(p12;q33) detected in cALL: A case report
Zenger M, Haferlach C
Birnbaum D, Pébusque MJ. t(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. Oncogene. 1998 Feb 19;16(7):945-9
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 knowledgethe first description of a patient with a t(8;9)(p12;q33),
who presented solely with a lymphoid malignancy.
Guasch G, Mack GJ, Popovici C, Dastugue N, Birnbaum D,
Rattner JB, Pébusque MJ. FGFR1 is fused to the centrosomeassociated protein CEP110 in the 8p12 stem cell
myeloproliferative disorder with t(8;9)(p12;q33). Blood. 2000
Mar 1;95(5):1788-96
Sohal J, Chase A, Mould S, Corcoran M, Oscier D, Iqbal S,
Parker S, Welborn J, Harris RI, Martinelli G, Montefusco V,
Sinclair P, Wilkins BS, van den Berg H, Vanstraelen D,
Goldman JM, Cross NC. Identification of four new
translocations involving FGFR1 in myeloid disorders. Genes
Chromosomes Cancer. 2001 Oct;32(2):155-63
Yamamoto K, Kawano H, Nishikawa S, Yakushijin K, Okamura
A, Matsui T. A biphenotypic transformation of 8p11
myeloproliferative syndrome with CEP1/FGFR1 fusion gene.
Eur J Haematol. 2006 Oct;77(4):349-54
Mozziconacci MJ, Carbuccia N, Prebet T, Charbonnier A,
Murati A, Vey N, Chaffanet M, Birnbaum D. Common features
of myeloproliferative disorders with t(8;9)(p12;q33) and
CEP110-FGFR1 fusion: report of a new case and review of the
literature. Leuk Res. 2008 Aug;32(8):1304-8
Park TS, Song J, Kim JS, Yang WI, Song S, Kim SJ, Suh B,
Choi JR. 8p11 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. Cancer Genet Cytogenet. 2008 Mar;181(2):93-9
References
Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein
H et al.. WHO Classification of Tumours of Haematopoietic and
Lymphoid Tissues. 4th. International Agency for Research on
Cancer (IARC), 2008. Lyon.
Bene MC, Castoldi G, Knapp W, Ludwig WD, Matutes E, Orfao
A, van't Veer MB. Proposals for the immunological
classification of acute leukemias. European Group for the
Immunological Characterization of Leukemias (EGIL).
Leukemia. 1995 Oct;9(10):1783-6
This article should be referenced as such:
Zenger M, Haferlach C. Translocation t(8;9)(p12;q33) detected
in cALL: A case report. Atlas Genet Cytogenet Oncol
Haematol. 2011; 15(10):902-903.
Chaffanet M, Popovici C, Leroux D, Jacrot M, Adélaïde J,
Dastugue N, Grégoire MJ, Hagemeijer A, Lafage-Pochitaloff M,
Atlas Genet Cytogenet Oncol Haematol. 2010; 14(10)
903