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Presented by Peter Illei, M.D. and prepared by Hillary Ross, M.D.
Case 3: 47 y.o. female patient from Nigeria presented to a US physician several months earlier with a breast mass.
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Question 1 of 1
1. Question
Week 436: Case 3
47 y.o. female patient from Nigeria presented to a US physician several months earlier with a breast mass. A biopsy was performed and the diagnosis of poorly differentiated ductal carcinoma (ER/PR/HER2 negative) was established. She underwent mastectomy with axillary lymph node dissection that was followed by chemotherapy. Six months later she now presents with bone (T6) metastasis.Images 1-3 refer to the bone (T6) biopsy. Images 4 and 5 refer to the breast tumor.
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images/1alex/05172010case3image5.jpgCorrect
Answer: Metastatic malignant melanoma
Histology: Sections of the bone (T6) show a poorly differentiated epithelial neoplasm that has pleomorphic, multinucleated and enlarged tumor cells. The nuclei show small red nucleoli. Atypical mitoses are also noted. The tumor cells are ER/PR negative and exhibit focal weak incomplete membranous staining for Her2 (Herceptest). A cytokeratin stain (AE1/AE3) is negative. Since the differential diagnosis includes sarcomatoid carcinoma additional stains were performed. Immunostains for keratins (Cam5.2 and CK903), as well as for the breast markers mammoglobin and GCDFP are all negative. An immunostain for S-100 is strongly and diffusely positive, and stains for other melanoma markers show that tumor cells are MITF positive, and focally HMB45 and Melan-A positive. This staining pattern supports the diagnosis.
The sections of the breast tumor show a high grade ductal carcinoma with therapy effect that are histologically different from the tumor in the bone. Furthermore, additional immunostains demonstrate that the tumor in the breast is strongly S100 and cytokeratin (AE1/AE3 and Cam5.2) positive but negative for Melan-A and MITF.
The bone lesion is morphologically compatible with poorly differentiated carcinoma. In such tumors, whether in the breast or in a metastasis (including axillary lymph nodes), especially in the absence of ER/PR and /or Her2 positivity one must be careful to rule out extramammary origin (i.e. lung, ovary, melanoma) and therefore additional stains should be considered.
Discussion: Malignant melanoma is rare in the African population and usually arises in the skin of the sole and palm, or is ocular in origin. A subset of melanomas may aberrantly express epithelial markers like cytokeratin and Her2/neu (the latter is usually focal and weak). In such cases the use of several melanoma markers is warranted since a subset of carcinomas can be S-100 positive. The other melanoma markers, used in this case are much more specific and can be used to establish the diagnosis if positive staining is observed.
Incorrect
Answer: Metastatic malignant melanoma
Histology: Sections of the bone (T6) show a poorly differentiated epithelial neoplasm that has pleomorphic, multinucleated and enlarged tumor cells. The nuclei show small red nucleoli. Atypical mitoses are also noted. The tumor cells are ER/PR negative and exhibit focal weak incomplete membranous staining for Her2 (Herceptest). A cytokeratin stain (AE1/AE3) is negative. Since the differential diagnosis includes sarcomatoid carcinoma additional stains were performed. Immunostains for keratins (Cam5.2 and CK903), as well as for the breast markers mammoglobin and GCDFP are all negative. An immunostain for S-100 is strongly and diffusely positive, and stains for other melanoma markers show that tumor cells are MITF positive, and focally HMB45 and Melan-A positive. This staining pattern supports the diagnosis.
The sections of the breast tumor show a high grade ductal carcinoma with therapy effect that are histologically different from the tumor in the bone. Furthermore, additional immunostains demonstrate that the tumor in the breast is strongly S100 and cytokeratin (AE1/AE3 and Cam5.2) positive but negative for Melan-A and MITF.
The bone lesion is morphologically compatible with poorly differentiated carcinoma. In such tumors, whether in the breast or in a metastasis (including axillary lymph nodes), especially in the absence of ER/PR and /or Her2 positivity one must be careful to rule out extramammary origin (i.e. lung, ovary, melanoma) and therefore additional stains should be considered.
Discussion: Malignant melanoma is rare in the African population and usually arises in the skin of the sole and palm, or is ocular in origin. A subset of melanomas may aberrantly express epithelial markers like cytokeratin and Her2/neu (the latter is usually focal and weak). In such cases the use of several melanoma markers is warranted since a subset of carcinomas can be S-100 positive. The other melanoma markers, used in this case are much more specific and can be used to establish the diagnosis if positive staining is observed.
