Metastatic Melanoma Presenting as an Isolated Breast Tumor: A Study of 20 Cases With Emphasis on Several Primary Mimickers

Bacchi, Carlos E.; Wludarski, Sheila Cristina Lordelo; Ambaye, Abiy B.; Lamovec, Janez; Salviato, Tiziana; Falconieri, Giovanni

doi:10.5858/arpa.2011-0552-oa

Cited by 30 publications

(24 citation statements)

References 30 publications

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“…In addition, more issues emerge in case of spindle cell morphology or special types of melanoma like desmoplastic or dedifferentiated melanoma. There are several reports of metastatic melanoma with papillary features 24 , melanoma mimicking giant cell variant of glioblastoma multiforme 25 or metastatic melanoma presenting as primary breast malignancies 26 .…”

Section: Discussionmentioning

confidence: 99%

Metastatic melanoma presenting as undifferentiated tumour of unknown primary site: an immunohistochemical algorithm

Ali¹,

Moldovan²,

DEREWICZ³

et al. 2019

Arch Balk Med Union

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Mélanome métastatique ayant l'aspect d'une tumeur non différenciée de site primaire inconnu: un algorithme immunohistochimique Introduction. L'identification par immunohistochimie du type et du site d'origine dans les tumeurs non différenciées de site primaire inconnu est une exigence fréquente dans la pratique pathologique. Il existe de nombreuses lésions histologiques montrant des aspects morphologiques similaires, avec un diagnostic erroné pouvant entraîner un traitement insuffisant ou excessif. Cela rend la précision du diagnostic extrêmement importante à l'ère des thérapies ciblées. L'objectif de l'étude était d'évaluer le processus de diagnostic dans 50 cas de mélanome présentant des tumeurs peu différenciées ou non différenciées d'origine primaire inconnue, l'accent étant mis sur l'algorithme immunohistochimique.

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Section: Discussionmentioning

confidence: 99%

Metastatic melanoma presenting as undifferentiated tumour of unknown primary site: an immunohistochemical algorithm

Ali¹,

Moldovan²,

DEREWICZ³

et al. 2019

Arch Balk Med Union

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“…Expression can vary with cell density, suggesting that growth and assay conditions play an important role in expression of tissue‐specific markers in cell culture . It should be noted that melanoma can display marked phenotypic diversity, making diagnosis challenging even in a clinical setting . Similarly, breast carcinoma has been demonstrated to express melanocytic markers, with increased expression in less differentiated tumors .…”

Section: Discussionmentioning

confidence: 99%

“…38 It should be noted that melanoma can display marked phenotypic diversity, making diagnosis challenging even in a clinical setting. 39 Similarly, breast carcinoma has been demonstrated to express melanocytic markers, with increased expression in less differentiated tumors. 40 Lineage infidelity can potentially affect both breast carcinoma and melanoma cells.…”

Section: Discussionmentioning

confidence: 99%

Authentication of M14 melanoma cell line proves misidentification of MDA‐MB‐435 breast cancer cell line

Korch

Hall

Dirks

et al. 2017

Intl Journal of Cancer

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A variety of analytical approaches have indicated that melanoma cell line UCLA-SO-M14 (M14) and breast carcinoma cell line MDA-MB-435 originate from a common donor. This indicates that at some point in the past, one of these cell lines became misidentified, meaning that it ceased to correspond to the reported donor and instead became falsely identified (through cross-contamination or other means) as a cell line from a different donor. Initial studies concluded that MDA-MB-435 was the misidentified cell line and M14 was the authentic cell line, although contradictory evidence has been published, resulting in further confusion. To address this question, we obtained early samples of the melanoma cell line (M14), a lymphoblastoid cell line from the same donor (ML14), and donor serum preserved at the originator’s institution. M14 samples were cryopreserved in December 1975, before MDA-MB-435 cells were established in culture. Through a series of molecular characterizations, including short tandem repeat (STR) profiling and cytogenetic analysis, we demonstrated that later samples of M14 and MDA-MB-435 correspond to samples of M14 frozen in 1975, to the lymphoblastoid cell line ML14, and to the melanoma donor’s STR profile, sex, and blood type. This work demonstrates conclusively that M14 is the authentic cell line and MDA-MB-435 is misidentified. With clear provenance information and authentication testing of early samples, it is possible to resolve debates regarding the origins of problematic cell lines that are widely used in cancer research.

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“…13–15 In retrospective studies, melanoma has been found to account for up to 38.5% of metastasis from solid neoplasms affecting the breast. 6,16–18 However, only few cases have been described in the literature of melanoma presenting as a breast mass without evidence of a primary cutaneous lesion.…”

Section: Discussionmentioning

confidence: 99%

Concurrent BRAF and PTEN mutations in melanoma of unknown origin presenting as a breast mass

Agosto‐Arroyo

Rosa

Chau

et al. 2017

SAGE Open Medical Case Reports

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Background:Metastases represent a small percentage of the malignancies affecting the breast, and only 5% of melanomas originate from non-cutaneous sites. Multiple genetic aberrations have been associated with the development of melanocytic lesions, including BRAF V600E mutation. Mutations in PTEN gene have also been related to the pathogenesis of multiple malignancies.Purpose/Method:This is the case of a 28-year-old female who presented with a tender, palpable mass in the upper outer quadrant of the right breast. Ultrasound showed a 1-cm solid mass, initially diagnosed as invasive ductal carcinoma on biopsy. During pre-operative workup, a second mass was identified and biopsied. Immunohistochemical stains performed on the second mass biopsy demonstrated that the neoplastic cells were positive for cytokeratin AE1/3, pan-melanoma, tyrosinase, and SOX-10 and negative for CK7, CAM5.2, and GATA-3. Subsequent workup showed widespread metastatic disease involving the liver, lungs, bones, and brain. The brain metastasis tested positive for BRAF p.V600E and PTEN p.R130Efs*4 mutations. Thorough skin and eye examination did not reveal a primary melanoma.Conclusion:Only few reports have been published of melanoma presenting as a breast mass. This is an interesting case due to the clinical presentation, diagnostic challenges, and genetic mutations profile.

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Metastatic Melanoma Presenting as an Isolated Breast Tumor: A Study of 20 Cases With Emphasis on Several Primary Mimickers

Cited by 30 publications

References 30 publications

Metastatic melanoma presenting as undifferentiated tumour of unknown primary site: an immunohistochemical algorithm

Metastatic melanoma presenting as undifferentiated tumour of unknown primary site: an immunohistochemical algorithm

Authentication of M14 melanoma cell line proves misidentification of MDA‐MB‐435 breast cancer cell line

Concurrent BRAF and PTEN mutations in melanoma of unknown origin presenting as a breast mass

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