Acute megakaryoblastic leukemia in a patient with xeroderma pigmentosum: discussion of pathophysiological, prognostic, and toxicological aspects.
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Acute megakaryoblastic leukemia in a patient with xeroderma pigmentosum: discussion of pathophysiological, prognostic, and toxicological aspects. / Janjetovic, Snjezana; Bacher, Ulrike; Haalck, Thomas; Janning, Melanie; Bokemeyer, Carsten; Fiedler, Walter.
In: ACTA HAEMATOL-BASEL, Vol. 129, No. 2, 2, 2013, p. 121-125.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Acute megakaryoblastic leukemia in a patient with xeroderma pigmentosum: discussion of pathophysiological, prognostic, and toxicological aspects.
AU - Janjetovic, Snjezana
AU - Bacher, Ulrike
AU - Haalck, Thomas
AU - Janning, Melanie
AU - Bokemeyer, Carsten
AU - Fiedler, Walter
N1 - Copyright © 2012 S. Karger AG, Basel.
PY - 2013
Y1 - 2013
N2 - BACKGROUND: Xeroderma pigmentosum (XP) is an autosomal recessive inherited disease characterized by extreme sensitivity to sunlight. Normal individuals harboring XPD polymorphisms are at increased risk for developing acute lymphoblastic leukemia and acute myeloid leukemia (AML).CASE REPORT: A 33-year-old male XP patient was diagnosed with acute megakaryoblastic leukemia with a complex karyotype. He received standard induction chemotherapy with cytarabine and daunorubicin. After the first cycle of chemotherapy, persistence of blasts was seen and a re-induction cycle with cytarabine, fludarabine, and idarubicin was administered resulting in complete remission. Due to the high-risk profile of his AML, allogeneic stem cell transplantation (SCT) was performed. Following a conditioning regimen with busulfan and cyclophosphamide, the patient received a matched related SCT from his HLA-identical sister. Despite the existence of his DNA repair gene mutation, chemotherapy was normally tolerated by the patient. Unfortunately, he died due to severe sepsis and relapse of AML 45 days after SCT.CONCLUSION: The XPD mutation in our patient may have contributed to the emergence of his high-risk AML. Despite the existence of a DNA repair gene mutation, our XP patient could be treated with full doses of AML-type chemotherapy including allogeneic SCT without encountering unusual toxicity.
AB - BACKGROUND: Xeroderma pigmentosum (XP) is an autosomal recessive inherited disease characterized by extreme sensitivity to sunlight. Normal individuals harboring XPD polymorphisms are at increased risk for developing acute lymphoblastic leukemia and acute myeloid leukemia (AML).CASE REPORT: A 33-year-old male XP patient was diagnosed with acute megakaryoblastic leukemia with a complex karyotype. He received standard induction chemotherapy with cytarabine and daunorubicin. After the first cycle of chemotherapy, persistence of blasts was seen and a re-induction cycle with cytarabine, fludarabine, and idarubicin was administered resulting in complete remission. Due to the high-risk profile of his AML, allogeneic stem cell transplantation (SCT) was performed. Following a conditioning regimen with busulfan and cyclophosphamide, the patient received a matched related SCT from his HLA-identical sister. Despite the existence of his DNA repair gene mutation, chemotherapy was normally tolerated by the patient. Unfortunately, he died due to severe sepsis and relapse of AML 45 days after SCT.CONCLUSION: The XPD mutation in our patient may have contributed to the emergence of his high-risk AML. Despite the existence of a DNA repair gene mutation, our XP patient could be treated with full doses of AML-type chemotherapy including allogeneic SCT without encountering unusual toxicity.
KW - Adult
KW - Humans
KW - Male
KW - Fatal Outcome
KW - Recurrence
KW - Neoadjuvant Therapy
KW - Remission Induction
KW - Hematopoietic Stem Cell Transplantation
KW - Transplantation, Homologous
KW - Aneuploidy
KW - Cytarabine/administration & dosage
KW - DNA Repair/genetics
KW - Daunorubicin/administration & dosage
KW - Idarubicin/administration & dosage
KW - Leukemia, Megakaryoblastic, Acute/etiology/genetics/therapy
KW - Leukemia, Myeloid, Acute/etiology/genetics/therapy
KW - Vidarabine/administration & dosage/analogs & derivatives
KW - Xeroderma Pigmentosum/complications/genetics
KW - Adult
KW - Humans
KW - Male
KW - Fatal Outcome
KW - Recurrence
KW - Neoadjuvant Therapy
KW - Remission Induction
KW - Hematopoietic Stem Cell Transplantation
KW - Transplantation, Homologous
KW - Aneuploidy
KW - Cytarabine/administration & dosage
KW - DNA Repair/genetics
KW - Daunorubicin/administration & dosage
KW - Idarubicin/administration & dosage
KW - Leukemia, Megakaryoblastic, Acute/etiology/genetics/therapy
KW - Leukemia, Myeloid, Acute/etiology/genetics/therapy
KW - Vidarabine/administration & dosage/analogs & derivatives
KW - Xeroderma Pigmentosum/complications/genetics
U2 - 10.1159/000342897
DO - 10.1159/000342897
M3 - SCORING: Journal article
C2 - 23207728
VL - 129
SP - 121
EP - 125
JO - ACTA HAEMATOL-BASEL
JF - ACTA HAEMATOL-BASEL
SN - 0001-5792
IS - 2
M1 - 2
ER -
