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Presented by Dr. Andres Matoso and prepared by Dr. Sintawat Wangsiricharoen.
Female in her 20s with kidney mass.
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1. Question
Female in her 20s with kidney mass.
Correct
Correct: C
Histology: The tumor is composed of back-to-back nests with tumor cells with round nuclei, inconspicuous nucleoli, “neuroendocrine” appearing chromatin, and moderate amount of eosinophilic cytoplasm with occasional eosinophilic cytoplasmic inclusions.
Discussion: SDH is an enzymatic complex localized within the mitochondria and composed of multiple subunits. Mutation in any one gene that codes for the proteins of each subunit can lead to absence of SDHB by immunohistochemistry. Studies show that SDH immunohistochemistry deficiency highly correlates (more than 90% of cases) with germline mutation. Patients with SDHB negative tumors should undergo genetic counseling.
Reference: Arch Pathol Lab Med. 2019 May;143(5):643-647.
Incorrect
Correct: C
Histology: The tumor is composed of back-to-back nests with tumor cells with round nuclei, inconspicuous nucleoli, “neuroendocrine” appearing chromatin, and moderate amount of eosinophilic cytoplasm with occasional eosinophilic cytoplasmic inclusions.
Discussion: SDH is an enzymatic complex localized within the mitochondria and composed of multiple subunits. Mutation in any one gene that codes for the proteins of each subunit can lead to absence of SDHB by immunohistochemistry. Studies show that SDH immunohistochemistry deficiency highly correlates (more than 90% of cases) with germline mutation. Patients with SDHB negative tumors should undergo genetic counseling.
Reference: Arch Pathol Lab Med. 2019 May;143(5):643-647.
