Posters

Hidden in Plain Sight: An Atypical Case of Adult Neuroblastoma

Presenting Author Academic/Professional Position

Bharat Peddinani

Academic Level (Author 1)

Resident

Discipline/Specialty (Author 1)

Internal Medicine

Academic Level (Author 2)

Resident

Discipline/Specialty (Author 2)

Internal Medicine

Academic Level (Author 3)

Resident

Discipline/Specialty (Author 3)

Internal Medicine

Discipline Track

Community/Public Health

Abstract Type

Research/Clinical

Abstract

Neuroblastoma is a malignancy predominantly affecting children, with adult-onset cases accounting for only 1–2% of diagnoses and carrying a poor prognosis. We report a rare case of metastatic neuroblastoma in a 31-year-old woman presenting initially with non-cardiac chest pain radiating to the left arm. Despite normal cardiac workup, her symptoms progressed over 18 months to include dysphagia, bone pain, fatigue, and significant weight loss. Imaging eventually revealed left axillary lymphadenopathy, and biopsy confirmed undifferentiated neuroblastoma through histology and immunohistochemistry (GATA3, synaptophysin, chromogranin positive; Ki-67 index 40%). Cytogenetic analysis demonstrated a hyperdiploid karyotype with 1p, 3p, 4p, and 11q loss, and 1q, 2p, 17q gains; MYCN amplification and ALK mutation were absent. PET-CT confirmed widespread metastatic involvement of bone, bone marrow, and lymph nodes, with no identifiable primary tumor site—a phenomenon reported in < 5% of cases.

This case highlights the diagnostic complexity of adult neuroblastoma, particularly when presenting without a detectable primary tumor and with non-specific symptoms such as chest pain. Delayed recognition underscores the need for clinicians to maintain a broad differential diagnosis when symptoms persist despite negative initial evaluations. Early biopsy of unexplained lymphadenopathy and the use of advanced imaging modalities are critical in expediting diagnosis. Given the lack of standardized treatment for adults and the aggressive nature of disease at presentation, multidisciplinary collaboration is essential to optimize outcomes.

Presentation Type

Poster

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Hidden in Plain Sight: An Atypical Case of Adult Neuroblastoma

Neuroblastoma is a malignancy predominantly affecting children, with adult-onset cases accounting for only 1–2% of diagnoses and carrying a poor prognosis. We report a rare case of metastatic neuroblastoma in a 31-year-old woman presenting initially with non-cardiac chest pain radiating to the left arm. Despite normal cardiac workup, her symptoms progressed over 18 months to include dysphagia, bone pain, fatigue, and significant weight loss. Imaging eventually revealed left axillary lymphadenopathy, and biopsy confirmed undifferentiated neuroblastoma through histology and immunohistochemistry (GATA3, synaptophysin, chromogranin positive; Ki-67 index 40%). Cytogenetic analysis demonstrated a hyperdiploid karyotype with 1p, 3p, 4p, and 11q loss, and 1q, 2p, 17q gains; MYCN amplification and ALK mutation were absent. PET-CT confirmed widespread metastatic involvement of bone, bone marrow, and lymph nodes, with no identifiable primary tumor site—a phenomenon reported in < 5% of cases.

This case highlights the diagnostic complexity of adult neuroblastoma, particularly when presenting without a detectable primary tumor and with non-specific symptoms such as chest pain. Delayed recognition underscores the need for clinicians to maintain a broad differential diagnosis when symptoms persist despite negative initial evaluations. Early biopsy of unexplained lymphadenopathy and the use of advanced imaging modalities are critical in expediting diagnosis. Given the lack of standardized treatment for adults and the aggressive nature of disease at presentation, multidisciplinary collaboration is essential to optimize outcomes.