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Presented by Dr. Pedram Argani and prepared by Dr. Robby Jones.
Case 1: This is a 25 year old female with a gastric mass.
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1. Question
Case 1: This is a 25 year old female with a gastric mass.
Correct
Answer: A. Gastrointestinal stromal tumor (GIST)
Histologic Description: This is a predominantly epithelioid neoplasm with a multinodular low power appearance and a solid nested appearance at high power. The neoplastic cells have even chromatin, and the nuclei are relatively uniform throughout. By immunohistochemistry, this neoplasm was immunoreactive for CD117 but not for S100, desmin, or PAX8. Given the young patient age, multinodular/plexiform appearance and epithelioid cytology, the neoplasm was tested for succinate dehydrogenase B by immunohistochemistry and found to be deficient, supporting the diagnosis of SDH-deficient GIST.
Differential Diagnosis: Melanoma would demonstrate more pleomorphism, and would label diffusely for S100. Leiomyosarcoma would be expected to label for desmin, and again demonstrate greater pleomorphism and more spindled appearance. Metastatic renal cell carcinoma is a serious consideration based on morphology; however, the neoplasm was negative for PAX8 and no renal lesion was identified.Case 1: This is a 25 year old female with a gastric mass.
Diagnosis:
A. Gastrointestinal stromal tumor (GIST)
B. Melanoma
C. Leiomyosarcoma
D. Metastatic renal cell carcinoma
Answer: A
Histologic Description: This is a predominantly epithelioid neoplasm with a multinodular low power appearance and a solid nested appearance at high power. The neoplastic cells have even chromatin, and the nuclei are relatively uniform throughout. By immunohistochemistry, this neoplasm was immunoreactive for CD117 but not for S100, desmin, or PAX8. Given the young patient age, multinodular/plexiform appearance and epithelioid cytology, the neoplasm was tested for succinate dehydrogenase B by immunohistochemistry and found to be deficient, supporting the diagnosis of SDH-deficient GIST.
Differential Diagnosis: Melanoma would demonstrate more pleomorphism, and would label diffusely for S100. Leiomyosarcoma would be expected to label for desmin, and again demonstrate greater pleomorphism and more spindled appearance. Metastatic renal cell carcinoma is a serious consideration based on morphology; however, the neoplasm was negative for PAX8 and no renal lesion was identified.
SDH-deficient gastrointestinal stromal tumors typically involve the stomach, have a multinodular/plexiform low power appearance, are typically epithelioid, and metastasize to lymph nodes. Conventional risk criteria for GIST (size, mitoses) do not apply to these tumors, which have a high risk of metastasis (approximately 70%).
Reference: Mason EF, Hornick JL. Am J Surg Pathol 2016; 40:1616-1621Incorrect
Answer: A. Gastrointestinal stromal tumor (GIST)
Histologic Description: This is a predominantly epithelioid neoplasm with a multinodular low power appearance and a solid nested appearance at high power. The neoplastic cells have even chromatin, and the nuclei are relatively uniform throughout. By immunohistochemistry, this neoplasm was immunoreactive for CD117 but not for S100, desmin, or PAX8. Given the young patient age, multinodular/plexiform appearance and epithelioid cytology, the neoplasm was tested for succinate dehydrogenase B by immunohistochemistry and found to be deficient, supporting the diagnosis of SDH-deficient GIST.
Differential Diagnosis: Melanoma would demonstrate more pleomorphism, and would label diffusely for S100. Leiomyosarcoma would be expected to label for desmin, and again demonstrate greater pleomorphism and more spindled appearance. Metastatic renal cell carcinoma is a serious consideration based on morphology; however, the neoplasm was negative for PAX8 and no renal lesion was identified.Case 1: This is a 25 year old female with a gastric mass.
Diagnosis:
A. Gastrointestinal stromal tumor (GIST)
B. Melanoma
C. Leiomyosarcoma
D. Metastatic renal cell carcinoma
Answer: A
Histologic Description: This is a predominantly epithelioid neoplasm with a multinodular low power appearance and a solid nested appearance at high power. The neoplastic cells have even chromatin, and the nuclei are relatively uniform throughout. By immunohistochemistry, this neoplasm was immunoreactive for CD117 but not for S100, desmin, or PAX8. Given the young patient age, multinodular/plexiform appearance and epithelioid cytology, the neoplasm was tested for succinate dehydrogenase B by immunohistochemistry and found to be deficient, supporting the diagnosis of SDH-deficient GIST.
Differential Diagnosis: Melanoma would demonstrate more pleomorphism, and would label diffusely for S100. Leiomyosarcoma would be expected to label for desmin, and again demonstrate greater pleomorphism and more spindled appearance. Metastatic renal cell carcinoma is a serious consideration based on morphology; however, the neoplasm was negative for PAX8 and no renal lesion was identified.
SDH-deficient gastrointestinal stromal tumors typically involve the stomach, have a multinodular/plexiform low power appearance, are typically epithelioid, and metastasize to lymph nodes. Conventional risk criteria for GIST (size, mitoses) do not apply to these tumors, which have a high risk of metastasis (approximately 70%).
Reference: Mason EF, Hornick JL. Am J Surg Pathol 2016; 40:1616-1621
