Amyloidosis of the Breast: Three Different and Unusual Presentations of a Rare Entity

Herrero, Laura; Naranjo-Hans, Dolores; Solé, Manel; Santamaría, Gorane; Bargalló, Xavier; Velasco, Martín; Fernández, Pedro

doi:10.1159/000440866

Cited by 13 publications

(7 citation statements)

References 14 publications

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“…Previous reports have established that aggregated amyloid in the breast is mainly of the AL type (usually κ light chain); in half of patients, it is part of an additional systemic immune cell disease, and in 55% of patients, it is associated with a hematologic malignancy of the breast (usually mucosa‐associated lymphoid tissue (MALT) lymphoma; [ 35 , 36 ]). By definition, L‐amyloidosis is produced by the kappa light chain of immunoglobulin M (IgM).…”

Section: Discussionmentioning

confidence: 99%

“…It is known that rarely (only in 7% of cases) aggregated amyloid, predominantly light‐chain amyloidosis (AL) or sometimes misfolded transthyretin (TTR)‐type amyloid, are detected in human breast tumor samples [ 32 , 33 , 34 , 35 , 36 , 37 ]. In patients with breast cancer and AL‐type amyloid, over half have concurrent breast hematologic disorders [ 35 , 38 ].…”

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confidence: 99%

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Accumulation of amyloid beta (Aβ) and amyloid precursor protein (APP) in tumors formed by a mouse xenograft model of inflammatory breast cancer

et al. 2021

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Accumulation of amyloid in breast cancer is a well-known phenomenon, but only immunoglobulin light-chain amyloidosis (AL) or transthyretin (TTR) amyloid had been detected in human breast tumor samples previously. We recently reported that another amyloidogenic peptide, amyloid beta (Ab), is present in an aggregated form in animal and human highgrade gliomas and suggested that it originates systemically from the blood, possibly generated by platelets. To study whether breast cancers are also associated with these Ab peptides and in what form, we used a nude mouse model inoculated with triple-negative inflammatory breast cancer cell (SUM-149) xenografts, which develop noticeable tumors. Immunostaining with two types of specific antibodies for Ab identified the clear presence of Ab peptides associated with (a) carcinoma cells and (b) extracellular aggregated amyloid (also revealed by Congo red and thioflavin S staining). Ab peptides, in both cells and in aggregated amyloid, were distributed in clear gradients, with maximum levels near blood vessels. We detected significant presence of amyloid precursor protein (APP) in the walls of blood vessels of tumor samples, as well as in carcinoma cells. Finally, we used ELISA to confirm the presence of elevated levels of mouse-generated Ab40 in tumors. We conclude that Ab in inflammatory breast cancer tumors, at least in a mouse model, is always present and is concentrated near blood vessels. We also discuss here the possible pathways of Ab accumulation in tumors and whether this phenomenon could represent the specific signature of highgrade cancers.Inflammatory breast cancer (IBC) is one of the most aggressive types of this disease; it is highly metastatic and usually fatal (as it is commonly diagnosed at T4, according to the tumor-nodes-metastasis classification of cancers (TNM) classification). Various IBC carcinoma cell subtypes exist, with the triple-negative subtype the most frequently diagnosed. These tumors lack receptors for estrogen, progesterone, or human epidermal growth factor receptor 2 (proto-oncogene) (HER2/neu), and thus, IBC is often treated with chemotherapy, radiation, or Abbreviations AD, Alzheimer's disease; AL, light-chain amyloidosis; APP, amyloid precursor protein; Ab, amyloid beta; DAPI-4 0 , 6-diamidino-2-phenylindole; ELISA, enzyme-linked immunosorbent assay; HER2/neu, human epidermal growth factor receptor 2 (proto-oncogene); IBC, inflammatory breast cancer; SUM-149-IBC cell line; MALT, mucosa-associated lymphoid tissue; MAPK, mitogen-activated protein kinases; PDGF, plateletderived growth factor; SCID, severe combined immunodeficient (mice strain); TNM, tumor-nodes-metastasis classification of cancers; TTR, transthyretin.

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Section: Discussionmentioning

confidence: 99%

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confidence: 99%

Accumulation of amyloid beta (Aβ) and amyloid precursor protein (APP) in tumors formed by a mouse xenograft model of inflammatory breast cancer

et al. 2021

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“…Breast amyloidosis can either be a localized finding associated with inflammatory or malignant conditions, or can be secondary to systematic diseases like plasma cell dyscrasia, 2 marginal zone lymphoma, 4 genetic abnormalities like hATTR, 3,5 autoimmune diseases like Sjogren syndrome or CREST syndrome, 4,6 or iatrogenic reasons like insulin injections, 7 etc. Overall, 53% of breast amyloidosis is localized, whereas 47% show extramammary amyloid involvement.…”

Section: Discussionmentioning

confidence: 99%

Lactotransferrin-Related Breast Amyloidosis: Report of a First Case

et al. 2021

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Breast amyloidosis is a rare condition which is mostly associated with hematological disorders or hereditary genetic disorders. Imaging findings of breast amyloidosis can mimic malignancy, which often leads to biopsy or excision of the lesion. Here, we presented a case of localized lactotransferrin-related breast amyloidosis in an elderly female patient. Histologic examination revealed extensive involvement of breast lobules by amorphous amyloid materials, with attenuation of lobular structures and prominent calcifications. Positive immunostains for myoepithelial cells helped to exclude the possibility of invasive carcinoma. The patient had no hematologic malignancy besides immunoglobulin G lambda monoclonal gammopathy of undetermined significance. Mass spectrometry of the breast amyloid identified lactotransferrin and no immunoglobulin or its light chain. On follow-up, the patient showed no recurrence of the breast lesion after local excision nor showed other systematic comorbidities, indicating the benign nature of the lesion. This first report of lactotransferrin-related amyloidosis may represent a special type of localized breast amyloidosis that has no correlation with systematic disorders.

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“…Breast amyloidosis is a rare diagnosis. Only 5 case series with a total of 63 cases have been published in the past 40 years (Table 2) [5][6][7][8][9]. Only 2 of these 63 patients also had Sjörgren syndrome (Table 2).…”

Section: Discussionmentioning

confidence: 99%

“…It is a rare diagnosis and can occur as localized disease without extramammary involvement or as part of systemic amyloidosis. Five series of 3 or more breast amyloidosis cases have been published in the past 40 years and comprise a mixture of cases with either localized breast or systemic involvement [5][6][7][8][9]. The association of Sjörgren syndrome with localized breast amyloidosis is rare.…”

Section: Introductionmentioning

confidence: 99%

Localized Breast Amyloidosis Associated with Sjörgren Syndrome

Fischer

2020

Case Reports in Pathology

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Sjörgren syndrome is a systemic autoimmune disease that is rarely associated with amyloid deposits, and in most reported cases, these deposits are localized to a single organ. Amyloidosis of the breast is a rare and unexpected finding, and only 5 case series with 63 patients have been published in the past 40 years. To date, only 6 cases have been reported in which Sjörgren syndrome is associated with amyloid deposits in the breast. A 61-year-old female diagnosed with Sjörgren syndrome underwent a breast needle core biopsy for calcifications. Microscopic examination revealed amyloid deposits in the periductular basement membranes, in the walls of arteries and veins, and in the surrounding connective tissue. No malignancy was found. Clinical workup revealed the amyloid deposits to be localized to the breast and did not reveal an underlying hematolymphoid neoplasm. The association between Sjörgren syndrome and breast amyloidosis is rare, but few reports have appeared in recent years, and it may be an emerging disease association. The finding of localized amyloid in the breast and other organs should lead to a clinical workup not only for hematopoietic neoplasms but also for autoimmune diseases such as Sjörgren syndrome.

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Amyloidosis of the Breast: Three Different and Unusual Presentations of a Rare Entity

Cited by 13 publications

References 14 publications

Accumulation of amyloid beta (Aβ) and amyloid precursor protein (APP) in tumors formed by a mouse xenograft model of inflammatory breast cancer

Accumulation of amyloid beta (Aβ) and amyloid precursor protein (APP) in tumors formed by a mouse xenograft model of inflammatory breast cancer

Lactotransferrin-Related Breast Amyloidosis: Report of a First Case

Localized Breast Amyloidosis Associated with Sjörgren Syndrome

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