- Email: [email protected]
Inversion (14)(q11q32) in a case of acute myeloid leukemia expressing lymphoid-associated antigens
LETTERS TO THE EDITOR Inversion (14)(qllq32) in a Case of Acute Myeloid Leukemia Expressing Lymphoid-Associated Antigens
A portion of patients with acute m y e l o i d leukemia (AML) also express surface antigens associated with l y m p h o i d development (Ly + AML) [1]. There is no cytogenetic anomaly specific for L y + AML, but aberrations involving 11q23, 14q32, and the 9;22 translocation appear to be increased [1]. We report such an Ly + AML, w h i c h presented at diagnosis with an inv(14)(qllq32), u s u a l l y observed in T-cell malignancies [2-5]. The patient, a 6-year-old girl, was a d m i t t e d for the first time in June 1991 because of pallor and weakness of 1-week duration. Physical examination showed moderately enlarged liver and spleen in a d d i t i o n to pale conjunctive. Her blood findings at presentation were hemoglobin (Hb) level 5.1 mM, white blood cell count 1.8 × 109/L w i t h o u t p e r i p h e r a l blasts, and platelets 100 × IOVL. Bone marrow (BM) aspirate s h o w e d a n o r m o c e l l u l a r BM w i t h 96% blast forms. Megakaryocytes were rare. Cytochemistry studies were positive for b e n z i d i n e m y e l o p e r o x y d a s e (47%), negative for naphtol-ASK chloroacetate esterase and periodic acid-Schiff. Immunophenotyping of the blast forms was as follows: CD19 87%, CD22 73%, CD38 92%, and CD10 76%. T Markers (CD2, CD3, CD4, CD5, CD7, CD8) were negative. With regard to the m y e l o i d lineage, CD13 was negative (1%); CD15 (which is of weak myeloid specificity) was positive at 81%, and CD17 was positive at 84%. These i m m u n o p h e n o t y p i c data indicated CD10-positive early B-precursor acute lymphoblastic leukemia (ALL) with atypical expression of CD15 and CD17. The diagnosis of LY+ AML was made. The patient received allogeneic BM transplant during her first remission after successful induction chemotherapy, using the regimen for AML. She is alive 18 months after transplantation. Chromosome analyses were performed on a BM aspirate after an unstimulated short-term culture (20 hours); 27 metaphases were studied by RHG banding. Two clones were evident at diagnosis; a major clone (22 cells) exhibited an inv(14)(qllq32) as the sole c h r o m o s o m e change (Fig. 1); the second clone (5 cells) was normal. Peripheral lymphocytes after phytohemagglutinin stimulation as well as BM in remission were cytogenetically normal. A general concept in cancer cytogenetics is that chromosome abnormalities in t u m o r cells are involved in tumor pathogenesis. This view was e m p h a s i z e d after the discovery of oncogenes at the junctions of translocations in Burkitt l y m p h o m a and chronic myelogenous leukemia. Nevertheless, we cannot assume that sporadic c h r o m o s o m e changes play a role in the etiology of tumors in w h i c h they
100 Cancer Genet Cytogenet 71:100-101 (1993) o165-4608/93/$06.00
inv(14)(ql lq32)
14
Figure 1 Partial karyotype from two bone marrow ceils showing inv(14)(qllq32).
are detected. In the present case, the inv(14) might be an exa m p l e of recombinase error, representing a naturally occurring but erroneous process without pathogenic consequence
(6). SOPHIE D. RAYNAUD BENEDICTE BRUNET NOEL AYRAUD FABRICE MONPOUX
PATRICK PHILIP JACQUES BAYLE
Laboratoire de G6n6tique CNRS URA 1462 Av. de Valombrose Nice Cedex 2, France Service P~diatrie H6pital Cimiez Nice, France Laboratoire Central d'H6matologie CHU, Nice, France
REFERENCES 1. Drexler HG, Thiel E, Ludwig WD (1993): Acute myeloid leukemias expressing lymphoid-associated antigens: Diagnostic incidence and prognostic significance. Leukemia 7;489-498. 2. Zech L, Gahrton G, Hammarstr6m L, Juliusson G, Mellstedt H, Robert KH, Smith CIE (1984): Inversion of chromosome 14 marks human T cell chronic lymphocytic leukemia. Nature 308: 858-860. 3. Hecht F, Morgan R, McCaw BK, Smith SD (1984): Common region on chromosome 14 in T cell leukemia and lymphoma. Science 226:1445-144Z 4. Clare N, Boldt D, Messerschmidt G, Zeltzer P, Hansen K, Man-
© 1993 Elsevier Science Publishing Co., Inc. 655 Avenue of the Americas, New York, NY 10010
Inv(14)(qllq32) in AML hoff L (1986): Lymphocyte malignancy and chromosome 14: Structural aberrations involving 14q11. Blood 67:704-707. 5. Brito-Babapulle V, D Catovsky (1991): Inversions and tandem translocations involving chromosome 14qll and 14q32 in
101 Topmlymphocyticleukemia and T-cellleukemias in patients with ataxia telangiectasia. Cancer Genet Cytogenet 55:1-9. 6. Rabbits TH, Boehm T, Mengle-Gaw L (1988): Chromosomal abnormalities in lymphoid tumours: Mechanism and role in tumour pathogenesis. TIG 4:300-304.
A portion of patients with acute m y e l o i d leukemia (AML) also express surface antigens associated with l y m p h o i d development (Ly + AML) [1]. There is no cytogenetic anomaly specific for L y + AML, but aberrations involving 11q23, 14q32, and the 9;22 translocation appear to be increased [1]. We report such an Ly + AML, w h i c h presented at diagnosis with an inv(14)(qllq32), u s u a l l y observed in T-cell malignancies [2-5]. The patient, a 6-year-old girl, was a d m i t t e d for the first time in June 1991 because of pallor and weakness of 1-week duration. Physical examination showed moderately enlarged liver and spleen in a d d i t i o n to pale conjunctive. Her blood findings at presentation were hemoglobin (Hb) level 5.1 mM, white blood cell count 1.8 × 109/L w i t h o u t p e r i p h e r a l blasts, and platelets 100 × IOVL. Bone marrow (BM) aspirate s h o w e d a n o r m o c e l l u l a r BM w i t h 96% blast forms. Megakaryocytes were rare. Cytochemistry studies were positive for b e n z i d i n e m y e l o p e r o x y d a s e (47%), negative for naphtol-ASK chloroacetate esterase and periodic acid-Schiff. Immunophenotyping of the blast forms was as follows: CD19 87%, CD22 73%, CD38 92%, and CD10 76%. T Markers (CD2, CD3, CD4, CD5, CD7, CD8) were negative. With regard to the m y e l o i d lineage, CD13 was negative (1%); CD15 (which is of weak myeloid specificity) was positive at 81%, and CD17 was positive at 84%. These i m m u n o p h e n o t y p i c data indicated CD10-positive early B-precursor acute lymphoblastic leukemia (ALL) with atypical expression of CD15 and CD17. The diagnosis of LY+ AML was made. The patient received allogeneic BM transplant during her first remission after successful induction chemotherapy, using the regimen for AML. She is alive 18 months after transplantation. Chromosome analyses were performed on a BM aspirate after an unstimulated short-term culture (20 hours); 27 metaphases were studied by RHG banding. Two clones were evident at diagnosis; a major clone (22 cells) exhibited an inv(14)(qllq32) as the sole c h r o m o s o m e change (Fig. 1); the second clone (5 cells) was normal. Peripheral lymphocytes after phytohemagglutinin stimulation as well as BM in remission were cytogenetically normal. A general concept in cancer cytogenetics is that chromosome abnormalities in t u m o r cells are involved in tumor pathogenesis. This view was e m p h a s i z e d after the discovery of oncogenes at the junctions of translocations in Burkitt l y m p h o m a and chronic myelogenous leukemia. Nevertheless, we cannot assume that sporadic c h r o m o s o m e changes play a role in the etiology of tumors in w h i c h they
100 Cancer Genet Cytogenet 71:100-101 (1993) o165-4608/93/$06.00
inv(14)(ql lq32)
14
Figure 1 Partial karyotype from two bone marrow ceils showing inv(14)(qllq32).
are detected. In the present case, the inv(14) might be an exa m p l e of recombinase error, representing a naturally occurring but erroneous process without pathogenic consequence
(6). SOPHIE D. RAYNAUD BENEDICTE BRUNET NOEL AYRAUD FABRICE MONPOUX
PATRICK PHILIP JACQUES BAYLE
Laboratoire de G6n6tique CNRS URA 1462 Av. de Valombrose Nice Cedex 2, France Service P~diatrie H6pital Cimiez Nice, France Laboratoire Central d'H6matologie CHU, Nice, France
REFERENCES 1. Drexler HG, Thiel E, Ludwig WD (1993): Acute myeloid leukemias expressing lymphoid-associated antigens: Diagnostic incidence and prognostic significance. Leukemia 7;489-498. 2. Zech L, Gahrton G, Hammarstr6m L, Juliusson G, Mellstedt H, Robert KH, Smith CIE (1984): Inversion of chromosome 14 marks human T cell chronic lymphocytic leukemia. Nature 308: 858-860. 3. Hecht F, Morgan R, McCaw BK, Smith SD (1984): Common region on chromosome 14 in T cell leukemia and lymphoma. Science 226:1445-144Z 4. Clare N, Boldt D, Messerschmidt G, Zeltzer P, Hansen K, Man-
© 1993 Elsevier Science Publishing Co., Inc. 655 Avenue of the Americas, New York, NY 10010
Inv(14)(qllq32) in AML hoff L (1986): Lymphocyte malignancy and chromosome 14: Structural aberrations involving 14q11. Blood 67:704-707. 5. Brito-Babapulle V, D Catovsky (1991): Inversions and tandem translocations involving chromosome 14qll and 14q32 in
101 Topmlymphocyticleukemia and T-cellleukemias in patients with ataxia telangiectasia. Cancer Genet Cytogenet 55:1-9. 6. Rabbits TH, Boehm T, Mengle-Gaw L (1988): Chromosomal abnormalities in lymphoid tumours: Mechanism and role in tumour pathogenesis. TIG 4:300-304.