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

Abstract

We describe a 4-year-old boy who presented with progressive right periorbital edema and proptosis, with no systemic symptoms, who was found to have B-lymphoblastic leukemia (B-ALL). Magnetic resonance imaging (MRI) showed an enhancing mass centered in the right superolateral extraconal orbit. Orbital biopsy was consistent with B-ALL (CD99, TdT, LCA cocktail, CD34, CD79, CD10, PAX5, MIB1 positive; CD3, CD20 negative). A subsequent bone marrow aspirate confirmed a diagnosis of B-ALL with 80% blasts by flow cytometry and haploid cytogenetic findings. The patient improved clinically after chemotherapy. There are seven cases previously reported in the literature with hematogenous orbital masses at initial presentation of childhood ALL, but all with systemic symptoms or an abnormal complete blood count (CBC) at presentation. Our case is the first report in which an orbital mass preceded detectable systemic or laboratory evidence of ALL. This patient highlights the importance of differentiating benign causes of eyelid swelling from malignant ones.

Protean Neuroophthalmic Presentations of Common Childhood Malignancies—A Report of Two Cases

“…The oncological outcome of these patients does not differ from the patients who do not have orbital involvement. 22 23 24 25 26…”

“…A summary of selected reports of childhood ALL with proptosis is presented in ►Table 2. [22][23][24][25][26] Notably, three of six cases, including the current one, had associated intracranial or optic nerve involvement, translating to CNS positivity. Proptosis may be the presenting manifestation of precursor B-or T-lineage ALL affecting infants, children, or adolescents.…”

“…The oncological outcome of these patients does not differ from the patients who do not have orbital involvement. [22][23][24][25][26] Fig. 2 (A) Proptosis of the left eye, (B) sagittal section of T1-weighted CE-MRI of brain illustrating enhancing sheet of soft tissue at the basisphenoid with extension to the orbit (black arrow), (C) bone marrow aspirate smear showing blasts (May-Grunwald-Giemsa stain; 1,000x), (D) the blast cells were MPO negative (myeloperoxidase stain; 1,000x).…”

Near-Haploidy and Low-Hypodiploidy in B-Cell Acute Lymphoblastic Leukemia: When Less Is Too Much

“…Blinatumomab, a BiTE antibody that directs T-cells to CD19-positive cells, has proven to be effective in adult patients with low-hypodiploid B-ALL, with 2 of the 4 patients reaching a complete response in one study [ 78 ]. It has also been used as an additional therapeutic approach in high-risk group protocols, which may induce a more in-depth response in these groups of B-ALL [ 79 ]. On the other hand, studies treating patients with inotuzumab ozogamicin, a humanized anti-CD22 antibody-drug conjugate, have not shown any specific high efficacy in patients with hypodiploid B-ALL [ 80 ].…”

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

“…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].…”