In February 2013 a 56-year-old man was admitted to another hospital complaining abdominal pain. The patient’s medical history was negative. Clinical examination revealed only a mild abdominal distension. No systemic symptoms were reported and laboratory data were with-in limits. An abdomen-ultrasound scan (US) showed multiple bilateral renal lesions with no other abnormalities. In the hypothesis of a secondary localization of neoplasm, a total body-CT scan was done, which confirmed the presence of multiple bilateral renal lesions. A testicular-US was negative. EGDS was normal, while a colonoscopy showed only diverticulosis. A subsequent US-guided biopsy of the left kidney was diagnostic for B-cell lymphoblastic lymphoma (B-LBL) and the patient was transferred to our unit. A diagnostic work-up for B-LBL/ALL was done: a peripheral blood smear showed few leukemic blasts (2%), whereas bone marrow aspirate displayed a large leukemic involvement (80%). Flow-cytometry analysis characterized blasts as CD10+/CD58+/CD38+/TdT+/CyCD79a+/CD22+. Molecular analysis was negative for BCR-ABL transcript but positive for PBX1/E2A. A further total body CT showed a bilateral renal enlargement (16 cm right-15 cm left) with multiple hypodense confluent lesions, while a total body FDG-PET indicated an intense uptake by both kidneys (SUV max 6.5) and by the anterior myocardial wall (SUV max 5.8). Laboratory data remained within range except for a mild creatinine raise. The myocardial involvement was analyzed through an echocardiogram that demonstrated a diffuse and severe dilatative cardiomyopathy and the absence of any hypokinetic segment. The ECG was normal. A thorax X-ray confirmed the enlargement of the heart profile while a revision of the thorax-CT scan showed a thickening of the left ventricular wall. The patient underwent HyperCVAD regimen with a rapid disease’s response. Renal involvement is not an uncommon feature in B-ALL/LBL, but it is usually observed during the latter phases of disease. In fact, there are only few cases reporting a large bilateral renal involvement at disease presentation. Cardiac involvement is a very rare feature in ALL too. It can present as intracardial mass or as myocardial infiltration, with or without symptoms. PBX/E2A occurs in a small subset of ALL and has an uncertain prognostic value. This is the first report of an association of this transcript with such an unusual extranodal presentation.
PBX/E2A transcript positive B-lymphoblastic leukemia (B-ALL) presenting with bilateral renal and myocardial involvement: a case report.
Guardalben, Emanuele;BONIFACIO, Massimiliano;TECCHIO, Cristina;AMBROSETTI, Achille
2013-01-01
Abstract
In February 2013 a 56-year-old man was admitted to another hospital complaining abdominal pain. The patient’s medical history was negative. Clinical examination revealed only a mild abdominal distension. No systemic symptoms were reported and laboratory data were with-in limits. An abdomen-ultrasound scan (US) showed multiple bilateral renal lesions with no other abnormalities. In the hypothesis of a secondary localization of neoplasm, a total body-CT scan was done, which confirmed the presence of multiple bilateral renal lesions. A testicular-US was negative. EGDS was normal, while a colonoscopy showed only diverticulosis. A subsequent US-guided biopsy of the left kidney was diagnostic for B-cell lymphoblastic lymphoma (B-LBL) and the patient was transferred to our unit. A diagnostic work-up for B-LBL/ALL was done: a peripheral blood smear showed few leukemic blasts (2%), whereas bone marrow aspirate displayed a large leukemic involvement (80%). Flow-cytometry analysis characterized blasts as CD10+/CD58+/CD38+/TdT+/CyCD79a+/CD22+. Molecular analysis was negative for BCR-ABL transcript but positive for PBX1/E2A. A further total body CT showed a bilateral renal enlargement (16 cm right-15 cm left) with multiple hypodense confluent lesions, while a total body FDG-PET indicated an intense uptake by both kidneys (SUV max 6.5) and by the anterior myocardial wall (SUV max 5.8). Laboratory data remained within range except for a mild creatinine raise. The myocardial involvement was analyzed through an echocardiogram that demonstrated a diffuse and severe dilatative cardiomyopathy and the absence of any hypokinetic segment. The ECG was normal. A thorax X-ray confirmed the enlargement of the heart profile while a revision of the thorax-CT scan showed a thickening of the left ventricular wall. The patient underwent HyperCVAD regimen with a rapid disease’s response. Renal involvement is not an uncommon feature in B-ALL/LBL, but it is usually observed during the latter phases of disease. In fact, there are only few cases reporting a large bilateral renal involvement at disease presentation. Cardiac involvement is a very rare feature in ALL too. It can present as intracardial mass or as myocardial infiltration, with or without symptoms. PBX/E2A occurs in a small subset of ALL and has an uncertain prognostic value. This is the first report of an association of this transcript with such an unusual extranodal presentation.
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