Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case Report
Patients suffering from adult acute lymphoblastic leukemia (ALL) are very ill and present most commonly with shortness of breath during physical activity, a pale complexion from anemia, a very low platelet count, the appearance of pinhead-sized red spots under the skin called petechiae, or prolonged...
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doaj-a00589e26eb64c7c8e4725d5d0a991ca2021-09-05T21:00:30ZengSciendoBalkan Journal of Medical Genetics1311-01602014-06-01171697110.2478/bjmg-2014-0028bjmg-2014-0028Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case ReportP.K. Gadhia0G.D. Shastri1E.G. Shastri2Department of Biosciences, Veer Narmad South Gujarat University Surat, Gujarat, IndiaGeNe CaRe Genetic Diagnostic Laboratory, Surat, Gujarat, IndiaGeNe CaRe Genetic Diagnostic Laboratory, Surat, Gujarat, IndiaPatients suffering from adult acute lymphoblastic leukemia (ALL) are very ill and present most commonly with shortness of breath during physical activity, a pale complexion from anemia, a very low platelet count, the appearance of pinhead-sized red spots under the skin called petechiae, or prolonged bleeding from minor cuts and discomfort in the bones and joints. Fever in the absence of an obvious cause is common. Leukemic lymphoblasts may accumulate in the lymphatic system, and lymph nodes can be enlarged. We report a young adult male with a novel translocation in ALL, who had vague (uncertain) minimal symptoms and splenomegaly. The patient had a unique cytogenetic abnormality: 45,XY,der(9)t(9;12)(p24;q12),-12, which has not been previously described in ALL. This is categorized as a poor risk due to his failure to achieve complete remission after induction chemotherapy.https://doi.org/10.2478/bjmg-2014-0028acute lymphoblastic leukemia (all)chromosomekaryotype |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
P.K. Gadhia G.D. Shastri E.G. Shastri |
spellingShingle |
P.K. Gadhia G.D. Shastri E.G. Shastri Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case Report Balkan Journal of Medical Genetics acute lymphoblastic leukemia (all) chromosome karyotype |
author_facet |
P.K. Gadhia G.D. Shastri E.G. Shastri |
author_sort |
P.K. Gadhia |
title |
Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case Report |
title_short |
Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case Report |
title_full |
Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case Report |
title_fullStr |
Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case Report |
title_full_unstemmed |
Adult B Lymphoblastic Leukemia with a Novel De Novo Chromosomal Translocation [Der(9)t(9;12)(p24;q12),-12]: A Case Report |
title_sort |
adult b lymphoblastic leukemia with a novel de novo chromosomal translocation [der(9)t(9;12)(p24;q12),-12]: a case report |
publisher |
Sciendo |
series |
Balkan Journal of Medical Genetics |
issn |
1311-0160 |
publishDate |
2014-06-01 |
description |
Patients suffering from adult acute lymphoblastic leukemia (ALL) are very ill and present most commonly with shortness of breath during physical activity, a pale complexion from anemia, a very low platelet count, the appearance of pinhead-sized red spots under the skin called petechiae, or prolonged bleeding from minor cuts and discomfort in the bones and joints. Fever in the absence of an obvious cause is common. Leukemic lymphoblasts may accumulate in the lymphatic system, and lymph nodes can be enlarged. We report a young adult male with a novel translocation in ALL, who had vague (uncertain) minimal symptoms and splenomegaly. The patient had a unique cytogenetic abnormality: 45,XY,der(9)t(9;12)(p24;q12),-12, which has not been previously described in ALL. This is categorized as a poor risk due to his failure to achieve complete remission after induction chemotherapy. |
topic |
acute lymphoblastic leukemia (all) chromosome karyotype |
url |
https://doi.org/10.2478/bjmg-2014-0028 |
work_keys_str_mv |
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