Dismal outcome of therapy-related myeloid neoplasm associated with complex aberrant karyotypes and monosomal karyotype: a case report
- Author:
Tang Yee-Loong’ Chia Wai-Kit
;
Yap Ernie Cornelius Sze-Wai
;
Julia Mohd Idris
;
Leong Chooi-Fun
;
Salwati Shuib
;
Wong Chieh-Lee
- Publication Type:Case Reports
- Keywords:
therapy-related myeloid neoplasms;
complex aberrant karyotypes;
monosomal karyotype;
acute myeloid leukaemia
- From:The Malaysian Journal of Pathology
2016;38(3):315-319
- CountryMalaysia
- Language:English
-
Abstract:
Introduction: Individuals who are exposed to cytotoxic agents are at risk of developing therapyrelated
myeloid neoplasms (t-MN). Cytogenetic findings of a neoplasm play an important role in
stratifying patients into different risk groups and thus predict the response to treatment and overall
survival. Case report: A 59-year-old man was diagnosed with acute promyelocytic leukaemia.
Following this, he underwent all-trans retinoic acid (ATRA) based chemotherapy and achieved
remission. Four years later, the disease relapsed and he was given idarubicin, mitoxantrone and
ATRA followed by maintenance chemotherapy (ATRA, mercaptopurine and methotrexate). He
achieved a second remission for the next 11 years. During a follow-up later, his full blood picture
showed leucocytosis, anaemia and leucoerythroblastic picture. Bone marrow examination showed
hypercellular marrow with trilineage dysplasia, 3% blasts but no abnormal promyelocyte. Fluorescence
in-situ hybridisation (FISH) study of the PML/RARA gene was negative. Karyotyping result
revealed complex abnormalities and monosomal karyotype (MK). A diagnosis of therapy-related
myelodysplastic syndrome/myeloproliferative neoplasm with unfavourable karyotypes and MK was
made. The disease progressed rapidly and transformed into therapy-related acute myeloid leukaemia
in less than four months, complicated with severe pneumonia. Despite aggressive treatment with
antibiotics and chemotherapy, the patient succumbed to the illness two weeks after the diagnosis.
Discussion and Conclusion: Diagnosis of t-MN should be suspected in patients with a history of
receiving cytotoxic agents. Karyotyping analysis is crucial for risk stratification as MK in addition
to complex aberrant karyotypes predicts unfavourable outcome. Further studies are required to
address the optimal management for patients with t-MN.
