Refractory T-cell/histiocyte-rich large B-cell lymphoma in a patient with ataxia-telangiectasia caused by novel compound heterozygous variants in ATM.
Daichi SatoKunihiko MoriyaTomohiro NakanoChihiro MiyagawaSaori KatayamaHidetaka NiizumaYoji SasaharaShigeo KurePublished in: International journal of hematology (2021)
Ataxia-telangiectasia (A-T) is an autosomal recessive chromosomal breakage syndrome caused by mutation of the ATM (A-T mutated) gene, which encodes a protein kinase that has a major role in the cellular response to DNA damage. Approximately, 10% of A-T patients develop lymphoid malignancies. Deaths caused by extreme sensitivity to chemotherapy for malignancy have been reported, and cancer treatment in A-T is extraordinarily difficult, needing careful monitoring and individualized protocols. We report the case of a 12-year-old girl with A-T diagnosed at the age of 3 in association with IgA deficiency and recurrent pulmonary infections. Sanger sequencing revealed compound heterozygosity of the ATM gene, which bore two novel mutations. At the age of 12, she developed stage IV T-cell/histiocyte-rich large B-cell lymphoma. The tumor was resistant to chemotherapy, and she unfortunately died of cardiac insufficiency and multiple organ failure induced by rapid progression of the disease. The treatment approach for children with A-T and advanced-stage B-non-Hodgkin lymphoma must be refined.
Keyphrases
- dna damage
- copy number
- dna repair
- early onset
- end stage renal disease
- diffuse large b cell lymphoma
- dna damage response
- single cell
- newly diagnosed
- case report
- genome wide
- ejection fraction
- locally advanced
- protein kinase
- chronic kidney disease
- oxidative stress
- pulmonary hypertension
- young adults
- peritoneal dialysis
- squamous cell carcinoma
- genome wide identification
- climate change
- radiation therapy
- left ventricular
- autism spectrum disorder
- heart failure
- rectal cancer