Primary mediastinal T-ALL presenting with superior vena cava syndrome

Superior vena cava syndrome (SVCS) is a rare but serious condition typically associated with malignancy. While lung cancer and lymphoma are common causes, less frequent aetiologies can present a diagnostic challenge. We report a case of a young adult female who presented with classical symptoms of SVCS, including facial oedema, neck vein distention and dyspnoea. Diagnostic workup revealed a large mediastinal mass, which was subsequently confirmed as T cell acute lymphoblastic leukaemia (T-ALL) on biopsy. This case highlights the importance of considering T-ALL in the differential diagnosis of SVCS, particularly in younger individuals without traditional risk factors. Early recognition and prompt initiation of appropriate therapy, including chemotherapy and potentially radiation therapy, are crucial for optimal patient outcomes. This case underscores the need for a high index of suspicion for rare malignancies, even in the context of common presentations.

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Publication Details

Journal
BMJ Case Reports
Published
2025-02-01
DOI
https://doi.org/10.1136/bcr-2024-264162
Primary Topic
Acute Lymphoblastic Leukemia research
Type
article
Field-Weighted Citation Impact
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article

Primary mediastinal T-ALL presenting with superior vena cava syndrome

Emmanuel Tito, Alison Gibbons, Jun Hyun Baik, Ines Kafando
BMJ Case Reports
Acute Lymphoblastic Leukemia research
article

Primary mediastinal T-ALL presenting with superior vena cava syndrome

Emmanuel Tito, Alison Gibbons, Jun Hyun Baik, Ines Kafando
article en

Abstract

Superior vena cava syndrome (SVCS) is a rare but serious condition typically associated with malignancy. While lung cancer and lymphoma are common causes, less frequent aetiologies can present a diagnostic challenge. We report a case of a young adult female who presented with classical symptoms of SVCS, including facial oedema, neck vein distention and dyspnoea. Diagnostic workup revealed a large mediastinal mass, which was subsequently confirmed as T cell acute lymphoblastic leukaemia (T-ALL) on biopsy. This case highlights the importance of considering T-ALL in the differential diagnosis of SVCS, particularly in younger individuals without traditional risk factors. Early recognition and prompt initiation of appropriate therapy, including chemotherapy and potentially radiation therapy, are crucial for optimal patient outcomes. This case underscores the need for a high index of suspicion for rare malignancies, even in the context of common presentations.

BMJ Case ReportsVol. 18(2)
Johns Hopkins University (US), Johns Hopkins Medicine (US)
Good health and well-being
Openalex Percentile: Top 96%
Acute Lymphoblastic Leukemia research
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Primary mediastinal T-ALL presenting with superior vena cava syndrome — Emmanuel Tito, Alison Gibbons, et al. · BMJ Case Reports (2025) | TGRS Research Map | TGRS