Unusual Presentation with Orbital Mass in a Child with Precursor B-Cell Acute Lymphoblastic Leukemia

Abstract

Orbital involvement is one of the extramedullary manifestations in acute leukemia. It is common in acute myeloid leukemia, but rare in acute lymphoblastic leukemia (ALL). We described a 3-year-old girl who presented with progressive proptosis of the right eye and was later diagnosed with precursor B-cell ALL. Initial blood count showed Hb 6.9 g/dL, WBC 42,000/mm3, lymphoblast 50%, and platelet count 185,000/mm3. Bone marrow aspiration revealed 90% lymphoblasts with positivity for CD10, CD19, CD20, CD22, and HLA-DR markers. Computed tomography (CT) scan of the brain and orbit revealed a homogeneous enhancing mass involving the right orbit with intracranial extension. The cytogenetic study showed 46,XX chromosomes. After 4 weeks of induction chemotherapy for very high-risk ALL, although the bone marrow was in remission, the proptosis was partially resolved. CT scan confirmed a decrease in size of the right orbital mass and degree of intracranial extension. Unfortunately, the patient abandoned the treatment after the induction chemotherapy. The actual incidence of orbital involvement in ALL is unknown. Previous case reports describe diverse manifestations of orbital involvement in ALL. The involvement may be unilateral or bilateral, may occur at first diagnosis or at relapse, and may be seen in isolation or with other systemic symptoms. There is no standard treatment protocol. Chemotherapy with or without radiotherapy is generally suggested. The role of upfront hematopoietic stem cell transplantation remains inconclusive. The previously reported prognosis of ALL with orbital involvement is poor.

Co-occurrence of TCF3-PBX1 gene fusion, and chromosomal aberration in a pediatric pre-B cell acute lymphoblastic leukemia with clitoris swelling

“…ALL is a malignant disorder of lymphoid progenitor cells, commonly presents as are hepatomegaly, splenomegaly, pallor, fever, and bruising. [ 8 ] The liver, spleen, or lymph nodes are the most common sites of extramedullary involvement in ALL. ALL presenting as a soft tissue mass is very rare.…”

Hypodiploid B-Lymphoblastic Leukemia Presenting as an Isolated Orbital Mass Prior to Systemic Involvement: A Case Report and Review of the Literature

“…The actual incidence of orbital involvement in ALL is unknown, and the only consensus is that it is a rare extramedullary manifestation of ALL. Our literature search revealed seven reported cases of hematogenous masses at the initial presentation of childhood ALLs, ranging from 8 months to 11 years of age [ 8 , 9 , 10 , 11 , 12 , 13 , 14 ]. Unlike our case, these reports had systemic symptoms such as intermittent fevers, lymphadenopathy, or rhinorrhea, or abnormal CBC at presentation ( Table 1 ).…”

“…Clinical characteristics of previous reported ALL cases with orbital involvement at the time of diagnosis[8][9][10][11][12][13][14].…”

Orbital Swelling and Ptosis as an Initial Presentation of Childhood Acute Lymphoblastic Leukaemia: A Case Report and Review of the Literature

“…Extramedullary infiltration involving the orbits caused by myelocytic and myeloblastic leukaemia is well established in the literature [6]. Lymphocytic and lymphoblastic leukaemia, however, have been reported to a lesser extent; this disease pattern is still sporadic and unique [3,7].…”

“…Cytogenetics and immune phenotyping also play an important role in differentiating between these subtypes [2]. ALL is the most common childhood variant of leukaemia; it generally presents with pancytopenia and organ infiltrates [3]. Despite the high survival rate following diagnosis, it is still a considerable cause of hospitalization and fatality in childhood populations [4].…”