Shieh Andrew, Mohamed Ali A
Penn State Milton S. Hershey Medical Center, 500 University Dr., Hershey, PA 17033, USA.
J Hematol. 2017 Oct;6(4):96-100. doi: 10.14740/jh330w. Epub 2017 Sep 20.
Use of adjuvant chemotherapy has improved survival for many patients with breast cancer. Unfortunately, such treatment can come at a price, in particular, malignancies. We present a case of a 36-year-old woman with heterozygous mutations in the ataxia telangiectasia mutated (ATM) gene who was admitted to the hospital for fatigue and diffusely scattered bruises. She was diagnosed with invasive ductal carcinoma of the left breast and had bilateral mastectomy with axillary node clearance followed by adjuvant chemotherapy 3 years prior. Her vitals were stable. Lab tests revealed thrombocytopenia, leukocytosis, and anemia. Peripheral blood smear and bone marrow biopsy revealed numerous myeloblasts. After flow cytometry and FISH analysis were performed, a diagnosis of therapy-related acute myeloid leukemia (t-AML) was made. The patient was treated with induction chemotherapy and a bone marrow biopsy revealed residual disease. Re-induction therapy was given and a bone marrow biopsy revealed complete remission. She subsequently received an allogenic stem cell transplant and was cured. Her treatment course was uncomplicated. We raise the question as to whether certain chemotherapy agents should be avoided in patients with mutations in DNA repair genes. Furthermore, it is essential for physicians to educate patients on the risk of secondary malignancies arising from chemotherapeutic treatment.
辅助化疗的使用提高了许多乳腺癌患者的生存率。不幸的是，这种治疗可能会付出代价，尤其是引发恶性肿瘤。我们报告一例36岁女性病例，该患者共济失调毛细血管扩张症突变（ATM）基因存在杂合突变，因疲劳和散在瘀斑入院。她3年前被诊断为左乳浸润性导管癌，接受了双侧乳房切除术及腋窝淋巴结清扫术，随后进行了辅助化疗。她的生命体征稳定。实验室检查显示血小板减少、白细胞增多和贫血。外周血涂片和骨髓活检发现大量成髓细胞。在进行流式细胞术和荧光原位杂交（FISH）分析后，确诊为治疗相关急性髓系白血病（t-AML）。该患者接受了诱导化疗，骨髓活检显示有残留病灶。给予再次诱导治疗，骨髓活检显示完全缓解。她随后接受了异基因干细胞移植并治愈。她的治疗过程没有并发症。我们提出一个问题，即对于DNA修复基因存在突变的患者是否应避免使用某些化疗药物。此外，医生有必要告知患者化疗治疗引发继发性恶性肿瘤的风险。
