SDH-B, INSM1, and GATA3 expression in cauda equina neuroendocrine tumors: report on 21 cases from a North indian tertiary care center

Abstract

Primary neuroendocrine tumors (NETs) of the central nervous system are rare, primarily seen in the cauda equina region, known as cauda equina NETs. This study was carried out to evaluate the morphological and immunohistochemical characteristics of cauda equina NETs. All cases of histologically proven NETs that originated within the spinal cord from 2010 to 2021 were retrieved from the surgical pathology electronic database. For each case, the clinical presentation, site, radiological features, functional status, and preoperative diagnosis were recorded. Immunohistochemical stains for GFAP, synaptophysin, chromogranin A, cytokeratin 8/18, INSM1, Ki-67, GATA3, and SDH-B were performed for every case using an automated immunostainer. GATA3 immunohistochemistry was repeated manually. A retrospective probe of records revealed 21 cases of NETs having a mean age of 44 years and slight male dominance (M:F ratio: 1.2:1). Cauda equina was the most prevalent site of involvement (19, 90.5%). The most typical presentation was lower backache and weakness of bilateral lower limbs. The histopathological features were similar to NETs seen at other sites. Reactivity for at least one neuroendocrine marker was seen in all cases while GFAP was negative. Cytokeratin 8/18 was expressed in the majority (88.9%) of cases. INSM1 and GATA3 expression was seen in 20 (95.2%) and 3 (14.3%) cases, respectively. All cases retained SDH-B cytoplasmic staining. Higher Ki-67 index (≥3%) was associated with a higher risk of recurrence. Cauda equina NETs rarely express GATA3 and are unlikely to be associated with SDH mutations. Recurrent cases may be negative for synaptophysin, chromogranin, and cytokeratin; thus, INSM1 immunohistochemistry is helpful.