Histopathology · 2025
Comprehensive genomic profiling and immunohistochemical analysis of prepubertal-type testicular neuroendocrine tumours in postpubertal patients reveal a possible relationship with small intestinal neuroendocrine tumours.
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Szalai Luca, Leiner Maja, Tóth Erika, Kuthi Levente, Kohánka Andrea, Bíró Krisztina, Somorácz Áron, Dénes Borbála, Melegh Zsombor
Аннотация
AIMS: Prepubertal-type testicular neuroendocrine tumours are rare entities with a poorly understood genetic background and immunohistochemical properties. Here, we present five cases in which immunohistochemical and molecular studies were performed to better understand the characteristics of these lesions.
METHODS AND RESULTS: Between 2006 and 2024, we identified five cases of prepubertal-type testicular neuroendocrine tumours in postpubertal patients with no extragonadal disease. Immunohistochemical studies (synaptophysin, chromogranin, CDX2, SATB2, TTF1, OCT4 and Ki67) were performed on all cases. Synaptophysin and chromogranin showed positive staining in all five cases, while TTF1 and OCT4 reactions were negative. In each case, varying levels of positivity with CDX2 and SATB2 were observed, although SATB2 was predominantly cytoplasmic. INSM1 and SF1 immunohistochemistry were performed on four cases. INSM1 showed a variable degree of positivity in all four cases examined, while SF1 was negative. Proliferative activity, assessed with Ki67 antibody, was below 10% in all cases. Chromosomal status of 12p was assessed by fluorescence in situ hybridization (FISH), and no chromosomal aberrations affecting the short arm of chromosome 12 were identified. In addition, comprehensive genomic profiling (CGP) using Oncomine Comprehensive Assay Plus was performed on two cases. Molecular analysis identified alterations previously described as characteristic of small intestinal neuroendocrine tumours: deletion of chromosome 18 in both cases and CDKN1B mutation in one case.
CONCLUSIONS: Immunohistochemistry revealed varying levels of positivity with intestinal markers in our cases. In two cases where CGP was performed, molecular alterations previously described as characteristic of small intestinal neuroendocrine tumours were identified. These findings suggest intestinal differentiation in these tumours and a possible relationship to small intestinal neuroendocrine tumours. This could also pose differential diagnostic challenges. Therefore, investigation of the gastrointestinal system is recommended in such cases to exclude metastatic lesions.
METHODS AND RESULTS: Between 2006 and 2024, we identified five cases of prepubertal-type testicular neuroendocrine tumours in postpubertal patients with no extragonadal disease. Immunohistochemical studies (synaptophysin, chromogranin, CDX2, SATB2, TTF1, OCT4 and Ki67) were performed on all cases. Synaptophysin and chromogranin showed positive staining in all five cases, while TTF1 and OCT4 reactions were negative. In each case, varying levels of positivity with CDX2 and SATB2 were observed, although SATB2 was predominantly cytoplasmic. INSM1 and SF1 immunohistochemistry were performed on four cases. INSM1 showed a variable degree of positivity in all four cases examined, while SF1 was negative. Proliferative activity, assessed with Ki67 antibody, was below 10% in all cases. Chromosomal status of 12p was assessed by fluorescence in situ hybridization (FISH), and no chromosomal aberrations affecting the short arm of chromosome 12 were identified. In addition, comprehensive genomic profiling (CGP) using Oncomine Comprehensive Assay Plus was performed on two cases. Molecular analysis identified alterations previously described as characteristic of small intestinal neuroendocrine tumours: deletion of chromosome 18 in both cases and CDKN1B mutation in one case.
CONCLUSIONS: Immunohistochemistry revealed varying levels of positivity with intestinal markers in our cases. In two cases where CGP was performed, molecular alterations previously described as characteristic of small intestinal neuroendocrine tumours were identified. These findings suggest intestinal differentiation in these tumours and a possible relationship to small intestinal neuroendocrine tumours. This could also pose differential diagnostic challenges. Therefore, investigation of the gastrointestinal system is recommended in such cases to exclude metastatic lesions.