Ataxia-telangiectasia (A-T) is an infrequent autosomal recessive disorder caused by mutations in ataxia-telangiectasia mutated (ATM) gene that involves multiple systems - progressive cerebellar ataxia, oculocutaneous telangiectasias, radiosensitivity, immunedeficiency and risk for malignancies. Non-Hodgkin lymphoma, Hodgkin lymphoma, Acute Leukemia, mostly T-cell acute lymphoblastic leucemias (T-cell ALL) are common before 20 years of age. The aim is to report B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in a AT patient.
Medical record review of 13-year-old, brazilian, female patient presenting pallor, astenia, osteoarticular pain 2 weeks before admission. AT had already been diagnosed at the age of 4 years due to progressive ataxia, ocular telangiectasia, increased alpha-fetoprotein, vitiligo and IgA deficiency.
On admission, hepatomegaly and small cervical lymphadenopathies. Hb 6.2 Ht 19.2 WBC 92.800 - 1.856 Bt 3.172 Sg 72.384 Lymph 2.784 Mo 12.064 blasts. Myelogram Bone marrow (BM) infiltrated 87% by L1 lymphoblasts (FAB) Immunophenotyping ALL early pre-B, DNA index diploide. Molecular biology negative ETV6-RUNX01, TCF3-PBX1, BCR-ABL01, MLL-KMT2A. Diagnosis High risk Acute Lymphoblastic Leukemia (age > 10 Yo WBC >50.000). IgA < 25.9 IgG 2360 IgM 273 mg/dL, CD4+ 416,3 CD8+ 1787,1 CD19+ 208 cells/mm3. EBV and CMV PCR negative. Therapy: RE-ALL 05 protocol standard doses (prednisone, doxorrubicina, Vincristine and PEG-asparaginase). Reassessment of induction D19 BM without blasts, MRD positive (3,8% blasts). Evolved with sepsis and admitted to UCI.
AT has a dramatic increased of developing malignancies and it´s one the most common cause of death in A-T patients. We herein report a case of A-T with BCP-ALL that occurs rarely in A-T patients.