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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Main Authors: P.K. Gadhia, G.D. Shastri, E.G. Shastri
Format: Article
Language:English
Published: Sciendo 2014-06-01
Series:Balkan Journal of Medical Genetics
Subjects:
Online Access:https://doi.org/10.2478/bjmg-2014-0028
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spelling 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
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