Acute lymphoblastic leukemia as second primary tumor in a patient with retinoblastoma

Abstract

Second primary tumor (SPT) is defined as a second tumor that presents either simultaneously or after the diagnosis of an index tumor. Second primary malignancies are the leading cause of death in patients with heritable retinoblastoma (RB). Acute lymphoblastic leukemia (ALL), as SPT in RB patients, is extremely rare. To the best of our knowledge, only five cases of ALL as SPT in patients with RB has been documented in the literature. Herein, we report a case of a 6-year-old girl with bilateral RB, who developed ALL during the course of treatment of RB. This case highlights the importance of reviewing blood investigations regularly to diagnose leukemia as SPT in RB and also the necessity for proper counseling and lifelong follow-up in these patients.

Keywords: Acute lymphoblastic leukemia; eye; leukemia; retina; retinoblastoma; second primary tumor; tumor.

Figure 1

Clinical picture at the time of presentation of the patient. Fundus photograph of right (a) and left (b) eyes showing intraocular mass with diffuse vitreous and subretinal seeds and total retinal detachment. B-scan ultrasonography of right (c) and left (d) eye showing bilateral acoustically dense intraocular mass with calcification with overlying retinal detachment. Computed tomography scan of orbit in axial (e) and coronal (f) cuts showing bilateral intraocular mass lesions with calcification. Peripheral blood smears (g) shows mature lymphocytes and adequate platelets (Giemsa, ×400). Bone marrow aspirate (h) shows all stages of hematopoietic cells with no evidence of abnormal cells (Giemsa, ×400)

Figure 2

Fundus findings during chemotherapy. Fundus photographs showing regressed solid tumor with persistence of subretinal (red arrow) and vitreous seeds (white arrow) in right (a) and left (b) eyes, post six cycles of systemic chemotherapy. Fundus photographs showing persistence of subretinal (red arrow) and vitreous seeds (white arrow) in right (c) and left (d) eyes post nine cycles of systemic chemotherapy. Fundus photographs showing recurrence of vitreous (white arrow) and subretinal seeds (red arrow) in the periphery of the right (e) and left (f) eyes, post two sessions of additional periocular carboplatin injections

Figure 3

Peripheral blood smears and flow cytometry at the time of detection of acute lymphoblastic leukemia. (a) Peripheral blood smears in acute lymphoblastic leukemia showing lymphoblasts (Romanowsky, ×400). (b) Peripheral blood smears in acute lymphoblastic leukemia showing myeloperoxidase stain negative lymphoblasts and few myeloperoxidase positive neutrophils (myeloperoxidase, ×400). Flow cytometry confirming the diagnosis of Pro B acute lymphoblastic leukemia with flow cytoblasts showing positivity for (c) CD 45 (d) CD 34 (e) HLA-DR (f) Tdt (g) CD 19 (h) CD 38 (i) CD 79a and (j) CD 15 markers