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Trisomy 14 in a case of sideroblastic refractory anemia
LETTERS TO THE EDITOR T r i s o m y 14 In a Case of S i d e r o b l a s t i c Refractory A n e m i a
Trisomy 14 as a sole or primary karyotypic abnormality in neoplasia is rare and appears to be confined largely to hematologic neoplasia of myeloid lineage [1-5]. Recently, Mancini et al. [2] reported a review of 23 cases of hematologic neoplasia which seemed to share four common features: patients' advanced age, marked tendency to bone marrow dysplastic features, normal platelet values, and favorable prognosis [2]. We describe a patient presenting with sideroblastic refractory anemia with trisomy 14 as the sole karyotypic abnormality. The patient is an 88-year-old woman with a 2-month history of a mild anemic syndrome. Complete blood counts showed a hemoglobin level of 10.5 g/dl, a mean corpuscular volume of 95 fl, white blood cell (WBC) count of 10.2 x 109/L with a normal differential, a platelet count of 209 ×
109/L, and 0.2% of reticulocytes. Serum vitamin B12 and red blood cell (RBC) folate levels were within normal limits. Bone marrow examination showed an increased global cellularity with normal megakaryocytes in number and morphology. The granulocyte series was normal, and the erythroid series was hyperplastic with discrete signs of dyserythropoiesis such as basophilic stippling and reduced hemoglobinization. Stocks of hemosiderin were observed with frequent ring sideroblasts (> 15%). Cytogenetic analysis of bone marrow by a GTG banding technique showed 46,XX/47,XX, + 14. Forty cells were analyzed and trisomy 14 was detected in 40% of the metaphases (Fig. 1). This case is the first in which trisomy 14 is associated with a sideroblastic refractory anemia and enlarges the set of hematologic myeloid disorders associated with this chromo-
Figure 1 GTG-banded karyotype showing trisomy 14. :
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E. Arranz et al.
some abnormality. This case also supports the concept that trisomy 14 may, like other karyotypic abnormalities (e.g., trisomy 8, monosomy 7) [6, 7], be a new specific chromosome alteration mostly confined to myeloid diseases and sharing some c o m m o n features, as pointed out by M a n c i n i et al. [2]. These typical features may be caused by a gene dosage effect of myeloid oncogenes or other growth regulator factors located on chromosome 14, as has been suggested by Tumewu and Royle [3]. A larger n u m b e r of similar observations is necessary for a clearer definition of this apparently n o n r a n d o m chromosome abnormality. Eva Arranz is a fellow of The Scientific Foundation of the Spanish Association against Cancer. EVA ARRANZ JAVIER BENITEZ ELENA PRIETO
Department of Genetics Department of Hematology Fundaciofi Jim~nez Diaz 28040 Madrid, Spain
REFERENCES 1. Liu HW, Lie KW, Chan LC (1992): Isochromosome 14q and leukemia with dysplastic features. Cancer Genet Cytogenet 64:97-98. 2. Mancini M, Cedrone M, Nanni M, Rondinelli MB, Petti MC, De Cuia MR, Alimena G (1993): Trisomy 14 in hematologic diseases. Cancer Genet Cytogenet 66:39-42. 3. Tumewu P, RoyleG (1992):Myelodysplastic syndrome and trisomy 14q. Cancer Genet Cytogenet 64:91-92. 4. So16 F, Caballin MR, Coil MD, Woessner S, Besses C, Palou L, Egozcue J (1991): Isochromosome 14q in myeloid dysplastic disorder. Cancer Genet Cytogenet 54:133-134. 5. Hass OA, Jager U, Ambros P, Pabinger I (1987):Trisomy 14 in refractory anemia with excess of blasts in transformation. Cancer Genet Cytogenet 29:315-318. 6. Yunis JJ, Rydell RE, Oken MM, Arnesen MA, Mayer MG, Lobell M (1986): Refined chromosome analysis as an independent prognostic indicator in de novo myelodysplastic syndromes. Blood 67:1721-1730. 7. Sol~ E Caballin MR, Coil MD, Woessner S, Besses C, SansSabrafen J, Egozcue J (1992): Cytogenetic studies in acute nonlymphocytic leukemia. Cancer Genet Cytogenet 60:117-124.
Trisomy 14 as a sole or primary karyotypic abnormality in neoplasia is rare and appears to be confined largely to hematologic neoplasia of myeloid lineage [1-5]. Recently, Mancini et al. [2] reported a review of 23 cases of hematologic neoplasia which seemed to share four common features: patients' advanced age, marked tendency to bone marrow dysplastic features, normal platelet values, and favorable prognosis [2]. We describe a patient presenting with sideroblastic refractory anemia with trisomy 14 as the sole karyotypic abnormality. The patient is an 88-year-old woman with a 2-month history of a mild anemic syndrome. Complete blood counts showed a hemoglobin level of 10.5 g/dl, a mean corpuscular volume of 95 fl, white blood cell (WBC) count of 10.2 x 109/L with a normal differential, a platelet count of 209 ×
109/L, and 0.2% of reticulocytes. Serum vitamin B12 and red blood cell (RBC) folate levels were within normal limits. Bone marrow examination showed an increased global cellularity with normal megakaryocytes in number and morphology. The granulocyte series was normal, and the erythroid series was hyperplastic with discrete signs of dyserythropoiesis such as basophilic stippling and reduced hemoglobinization. Stocks of hemosiderin were observed with frequent ring sideroblasts (> 15%). Cytogenetic analysis of bone marrow by a GTG banding technique showed 46,XX/47,XX, + 14. Forty cells were analyzed and trisomy 14 was detected in 40% of the metaphases (Fig. 1). This case is the first in which trisomy 14 is associated with a sideroblastic refractory anemia and enlarges the set of hematologic myeloid disorders associated with this chromo-
Figure 1 GTG-banded karyotype showing trisomy 14. :
t
t! 3
4
Ct 1411 13
II t9
B
||
10
A 15
8 ZO
:
11
ti
A8
16
17
12
IB
i ¢
o Zl
5
ti
9
14e 14
¸¸¸
i
2
7
ii i ~i ¸¸¸ ¸¸¸
....2Z
H
X
Y
M 71
72
E. Arranz et al.
some abnormality. This case also supports the concept that trisomy 14 may, like other karyotypic abnormalities (e.g., trisomy 8, monosomy 7) [6, 7], be a new specific chromosome alteration mostly confined to myeloid diseases and sharing some c o m m o n features, as pointed out by M a n c i n i et al. [2]. These typical features may be caused by a gene dosage effect of myeloid oncogenes or other growth regulator factors located on chromosome 14, as has been suggested by Tumewu and Royle [3]. A larger n u m b e r of similar observations is necessary for a clearer definition of this apparently n o n r a n d o m chromosome abnormality. Eva Arranz is a fellow of The Scientific Foundation of the Spanish Association against Cancer. EVA ARRANZ JAVIER BENITEZ ELENA PRIETO
Department of Genetics Department of Hematology Fundaciofi Jim~nez Diaz 28040 Madrid, Spain
REFERENCES 1. Liu HW, Lie KW, Chan LC (1992): Isochromosome 14q and leukemia with dysplastic features. Cancer Genet Cytogenet 64:97-98. 2. Mancini M, Cedrone M, Nanni M, Rondinelli MB, Petti MC, De Cuia MR, Alimena G (1993): Trisomy 14 in hematologic diseases. Cancer Genet Cytogenet 66:39-42. 3. Tumewu P, RoyleG (1992):Myelodysplastic syndrome and trisomy 14q. Cancer Genet Cytogenet 64:91-92. 4. So16 F, Caballin MR, Coil MD, Woessner S, Besses C, Palou L, Egozcue J (1991): Isochromosome 14q in myeloid dysplastic disorder. Cancer Genet Cytogenet 54:133-134. 5. Hass OA, Jager U, Ambros P, Pabinger I (1987):Trisomy 14 in refractory anemia with excess of blasts in transformation. Cancer Genet Cytogenet 29:315-318. 6. Yunis JJ, Rydell RE, Oken MM, Arnesen MA, Mayer MG, Lobell M (1986): Refined chromosome analysis as an independent prognostic indicator in de novo myelodysplastic syndromes. Blood 67:1721-1730. 7. Sol~ E Caballin MR, Coil MD, Woessner S, Besses C, SansSabrafen J, Egozcue J (1992): Cytogenetic studies in acute nonlymphocytic leukemia. Cancer Genet Cytogenet 60:117-124.