Amyloidotic breast nodule in hereditary transthyretin amyloidosis (hATTR): a case report

Cisneros-Barroso, Eugenia; Losada, Inés; González-Moreno, Juan; Buades, Juan; Ferrer-Nadal, Asunción; Ripoll‐Vera, Tomás; Usón, Mercedes; Figuerola, Antoni; Montalà, Joan Carles; Descals, Cristina; Salva-Ramonell, Francisca; Torres-Rovira, José Juan; Gené-Heym, A.; Fernández-Burgos, Isabel; Soler, Teresa

doi:10.1080/13506129.2019.1582521

Cited by 1 publication

(3 citation statements)

References 7 publications

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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%

“…hATTR or familial amyloid polyneuropathy is a genetic disorder most commonly caused by the substitution of methionine for valine at position 30 (ATTRVal30Met) of the transthyretin (TTR) gene, 3 resulting in misfolded protein products. Patients often present with polyneuropathy and autonomic dysfunction, but can later develop multiple organ involvement, including breast.…”

Section: Discussionmentioning

confidence: 99%

“…2 Other commonly reported causes also include immunoglobulin heavy chains or hereditary transthyretin amyloidosis (hATTR). 3 Here, we describe a case of localized lactotransferrin-related breast amyloidosis, which was the first of its kind being reported. Its unique histological presentations are presented, and its possible pathophysiological correlations are also discussed.…”

Section: Introductionmentioning

confidence: 94%

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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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