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Year : 2014  |  Volume : 57  |  Issue : 2  |  Page : 287-289
Malignant melanoma of breast: A unique case with diagnostic dilemmas

Department of Pathology, Regional Cancer Centre, Thiruvananthapuram, Kerala, India

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Date of Web Publication19-Jun-2014


Melanomas arising in the skin, mucous membranes, and eye are encountered commonly than melanomas involving the breast. Melanomas in the breast are usually metastatic. Primary melanoma of the breast is extremely rare. We report a case of malignant melanoma of breast (primary/metastatic) that presented as a breast lump in a patient with no detectable cutaneous, mucosal or ocular lesion and who is a known case of squamous cell carcinoma of the oral cavity and had relapsed twice. The unexpected challenges faced during the diagnosis prompted us to report this case.

Keywords: Breast, melanoma, metastatic, primary

How to cite this article:
Vasudevan JA, Somanathan T, Mathews A, Kattoor J. Malignant melanoma of breast: A unique case with diagnostic dilemmas. Indian J Pathol Microbiol 2014;57:287-9

How to cite this URL:
Vasudevan JA, Somanathan T, Mathews A, Kattoor J. Malignant melanoma of breast: A unique case with diagnostic dilemmas. Indian J Pathol Microbiol [serial online] 2014 [cited 2023 Sep 26];57:287-9. Available from:

   Introduction Top

Malignant melanoma is probably the most important and common tumor to metastasize to the breast, apart from primary contralateral mammary tumors and lymphomas. [1] Metastasis from cutaneous malignant melanoma represent the majority of cases of melanoma involving the breast. [1] However a few cases of primary malignant melanoma in the breast have been reported. [2],[3] We report an extremely unusual case of a 50-year-old female who had squamous cell carcinoma of the oral cavity, had relapsed twice, detected a breast lump and diagnosed as malignant melanoma on histopathology. We are presenting this case because of the diagnostic difficulties we faced in arriving at the diagnosis.

   Case report Top

The present case is that of a 50-year-old female who had squamous cell carcinoma of the left lower alveolus. She underwent wide excision, left hemimandibulectomy, pectoralis major myocutaneous flap reconstruction and received adjuvant radiation therapy. At 12 years later she had recurrence in left maxilla and inferior partial maxillectomy was done. While on follow-up, she developed recurrence one year later involving buccal mucosa in the same side. In view of her age and performance status, she was planned for palliative methotrexate. A left breast lump measuring 4 × 3 cm in the upper outer quadrant of breast was noticed and fine-needle aspiration biopsy (FNAB) was done. It showed tumor cells with a moderate amount of eosinophilic cytoplasm and pleomorphic nuclei mainly scattered singly [Figure 1]a]. Tumor cells showed weak positivity for cytokeratin AE1/AE3 antibody. Thus, morphology and immunohistochemistry findings were suggestive of poorly differentiated carcinoma. Tru-cut biopsy was done from breast lump to differentiate whether it was a primary breast carcinoma or a metastasis from carcinoma of the oral cavity. Tru-cut biopsy showed tumor cells in sheets [Figure 1]b]. Individual cells had scanty to moderate amount of eosinophilic cytoplasm and round pleomorphic nucleus. Foci of hemorrhage were seen. First panel of immunohistochemistry was done and tumor cells showed positivity for cytokeratin AE1/AE3 antibody [Figure 1]c] and were negative for cytokeratin 34βE12. Histopathology slides were reviewed again and scattered tumor cells with intracytoplasmic brownish pigment were noticed [Figure 2]a]. Thus, second panel of immunomarkers were ordered. The tumor cells showed diffuse strong positivity for S100 and HMB45 [Figure 2]b and c] and hence diagnosis of malignant melanoma of breast (primary/metastatic) was given. The patient had no history of previous removal of pigmented lesions. Since clinical examination and extensive work-up of the patient including endoscopic procedures did not reveal a primary lesion in skin, mucosal sites including oropharyngeal and anorectal region or ocular sites, the patient was taken up for modified radical mastectomy. Gross examination revealed a grey white tumor of size 4 × 3 × 3 cm. Overlying skin with nipple and areola were free of tumor. Axillary clearance showed five matted and five discrete nodes. Of these, one discrete node and the five matted lymph nodes showed metastasis. Cytokeratin AE1/AE3 repeated on the excision biopsy showed moderate cytoplasmic and perinuclear block positivity of tumor cells. Since, there is no proven role of chemotherapy or radiotherapy in this setting and as her major symptoms were related to the buccal mucosa disease she was advised palliation for the same.
Figure 1: (a) cytology smears showing tumor cells with moderate amount of pale eosinophilic cytoplasm and pleomorphic nuclei arranged mainly singly and in loosely cohesive clusters (pap, ×400). (b) incision biopsy showing sheets of tumor cells with scanty to moderate cytoplasm and pleomorphic nuclei (H and E, ×400). Inset shows breast tissue at the periphery of the tumor (H and E, ×100). (c) Tumor cells with weak cytokeratin positivity (IHC, ×400)

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Figure 2: (a) scattered tumor cells with intracytoplasmic brownish pigment (H and E, ×400). (b) Diffuse strong positivity of tumor cells for S100 (IHC, ×400). (c) Diffuse strong positivity of tumor cells for HMB
45 (IHC, ×400)

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   Discussion Top

Pigmented melanocytic lesions of the breast parenchyma are extremely uncommon. There are unusual examples of cellular blue nevi described in breast. [4] Malignant melanoma has arisen from cellular blue nevi in other organs, and this lesion could be the substrate for primary melanoma of the breast. [5] These are case reports of primary melanoma of the breast parenchyma, but the exact nature of these lesions has not been clearly documented and they could be instances of melanocytic differentiation in carcinomas. [6] In our case, extensive sampling of tumor in the modified radical mastectomy specimen did not reveal any focus of in situ or invasive carcinoma. Melanin pigmentation of primary breast carcinoma has been described, presumably secondary to phagocytosis of melanin pigment by the tumor cells. [7] These are case reports stating melanin production directly by neoplastic mammary glandular epithelium. [8] Case reports have documented examples of melanocytic metaplasia in breast carcinoma. [9] Although majority of cases of melanoma can be interpreted correctly on FNAB, some cases are diagnostically challenging. Furthermore, because of the morphologic spectrum of metastatic melanoma, it can simulate breast carcinoma. Cell morphologic studies on fine-needle aspiration specimens may not provide sufficient information to allow differential diagnosis and additional evidence may need to be obtained by immunocytochemistry studies. In majority of cases, the definitive diagnosis is made by biopsy. In our case, FNAB suggested poorly differentiated carcinoma. Immunocytochemistry done on cytology smears showed positivity of tumor cells for cytokeratin AE1/AE3. Melanomas are notorious for anomalous expression of intermediate filament protein with some studies documenting expression in more than 30% of cases. Cytokeratin is the most common anomalously expressed intermediate filament in melanoma, thus raising significant potential for misdiagnosis of cytokeratin positive melanomas as carcinoma. Use of a panel of immunostains, including S100 protein, will greatly reduce this problem. In general, anomalous intermediate filament expression tends to be focal although it may rarely be diffuse. There are case reports of tumors showing a combination of melanoma and carcinoma of the oral cavity. [10] Our patient was a case of squamous cell carcinoma of the oral cavity. No histologic evidence of melanoma was present in the sections studied. Before a diagnosis of primary melanoma of the breast can be established, an extramammary melanoma that could be the source of metastasis in the breast should be excluded, and a predisposing associated lesion in the breast should be identified. [4] In our case, a thorough physical examination did not reveal a primary melanoma. Diagnosis would have been easily missed and possibly never been detected in this case if the melanin pigment in the scattered tumor cells were overlooked. Melanoma is also one of the tumors that can undergo spontaneous regression and thus may not be detected in a thorough physical examination. Thus, even though primary site was not to be detected, we cannot exclude a metastatic melanoma. To conclude, a thorough history, physical examination, histopathology and inclusion of S-100 protein and HMB-45 immunostains are crucial to arrive at an accurate diagnosis in such difficult cases.

   References Top

1.Bassi F, Gatti G, Mauri E, Ballardini B, De Pas T, Luini A. Breast metastases from cutaneous malignant melanoma. Breast 2004;13:533-5.  Back to cited text no. 1
2.Kurul S, Taº F, Büyükbabani N, Mudun A, Baykal C, Camlica H. Different manifestations of malignant melanoma in the breast: A report of 12 cases and a review of the literature. Jpn J Clin Oncol 2005;35:202-6.  Back to cited text no. 2
3.Pressman PI. Malignant melanoma and the breast. Cancer 1973;31:784-92.  Back to cited text no. 3
4.Rosen PP. Cutaneous neoplasms. In: Pine JW Jr, Mc Gough J, editors. Rosen's Breast Pathology. 3 rd ed. Philadelphia: Lippincott Williams & Wilkins; 2009. p. 999-1004.  Back to cited text no. 4
5.Löffler KU, Witschel H. Primary malignant melanoma of the orbit arising in a cellular blue naevus. Br J Ophthalmol 1989;73:388-93.  Back to cited text no. 5
6.Bernardo MM, Mascarenhas MJ, Lopes DP. Primary malignant melanoma of the breast. Acta Med Port 1980;2:39-43.  Back to cited text no. 6
7.Azzopardi JG, Eusebi V. Melanocyte colonization and pigmentation of breast carcinoma. Histopathology 1977;1:21-30.  Back to cited text no. 7
8.Romanelli R, Toncini C. Pigmented papillary carcinoma of the male breast. Tumori 1986;72:105-8.  Back to cited text no. 8
9.Nobukawa B, Fujii H, Hirai S, Kumasaka T, Shimizu H, Matsumoto T, et al. Breast carcinoma diverging to aberrant melanocytic differentiation: A case report with histopathologic and loss of heterozygosity analyses. Am J Surg Pathol 1999;23:1280-7.  Back to cited text no. 9
10.Sat MV, Shrikhante SS. Collision tumor of the oral cavity. A report of two cases. Indian J Pathol Microbiol 1966;19:340-3.  Back to cited text no. 10

Correspondence Address:
Thara Somanathan
Department of Pathology, Regional Cancer Centre, Thiruvananthapuram, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0377-4929.134720

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