Amyloidosis of the breast

Röcken, Christoph; Kronsbein, H; Sletten, Knut; Roessner, Albert; Bässler, R

doi:10.1007/s00428-001-0555-z

Cited by 55 publications

(52 citation statements)

References 30 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Amyloid type was available in 18 of these 42 cases and was AL in 15 cases, AA in 2 cases and AH in 1 case. Interestingly, AL amyloidosis was kappa type in 60% of our cases and in 67% of the previously reported cases reviewed by Rocken et al 4 This is in contrast to AL amyloidosis in general, in which twothirds of cases are of lambda type. 17 Forty-seven percent of patients with breast amyloidosis seen at our medical center had systemic AL amyloidosis.…”

Section: Discussioncontrasting

confidence: 63%

“…In our study, 3 of the 10 patients with associated hematologic disorder died of lymphoma/leukemia complications. Two of the three cases of breast amyloidosis reported by Rocken et al 4 and one of the seven cases reported by Charlot et al 3 were associated with invasive carcinoma (ductal in two patients and lobular in one patient). In contrast, only 1 of the 40 patients in our study had ductal carcinoma in situ and none had invasive cancer.…”

Section: Discussionmentioning

confidence: 79%

“…Noticeably, none of the cases were of the AA type, which is the second most common type of systemic amyloidosis. Rocken et al 4 described three cases of breast AL amyloidosis in 2002 and reviewed the characteristics of 42 previously reported cases. Amyloid type was available in 18 of these 42 cases and was AL in 15 cases, AA in 2 cases and AH in 1 case.…”

Section: Discussionmentioning

confidence: 99%

“…[3][4][5][6][7][8][9][10] It is typically unilateral, although bilateral involvement has been described. 11 Some of the reported cases were associated with malignancy, including invasive ductal or lobular carcinoma, 3,4,12 or non-Hodgkins lymphoma. 4 The typical clinical presentation is painless, solitary breast mass, which may or may not be associated with calcifications.…”

mentioning

confidence: 99%

See 3 more Smart Citations

Amyloidosis of the breast: predominantly AL type and over half have concurrent breast hematologic disorders

et al. 2013

View full text Add to dashboard Cite

Amyloidosis is a disorder characterized by extracellular deposition of proteins in an abnormal fibrillar configuration. Amyloidosis can be localized or systemic and may affect any organ. Breast involvement by amyloidosis has rarely been reported. In this study, we described the characteristics of 40 cases of breast amyloidosis that were reviewed at the Division of Anatomic Pathology at Mayo Clinic from 1995 to 2011. The cohort included 39 women and 1 man with a mean age of 60 years. The type of amyloidosis, determined by immunohistochemistry or mass spectrometry-based proteomics in 26 patients, was immunoglobulin-associated in all cases (AL-kappa type in 15 (58%) cases, AL-lambda in 10 (38%) and mixed heavy and light chains (AH/AL) in 1 (4%) case). Mass spectrometry-based proteomics was able to determine the type of amyloidosis in 95% of cases tested compared with 69% of cases by immunohistochemistry. In addition to amyloidosis, the breast biopsy showed a hematologic disorder in 55% of cases, most commonly MALT lymphoma. One patient had concurrent intraductal carcinoma, but none had invasive carcinoma. Of the 15 patients seen in our institution, 53% had localized amyloidosis and 47% had extramammary amyloid involvement, which was diagnosed before breast amyloidosis in most patients. M-spike was detected in the blood in 62%. After a median follow-up of 33.5 months in 12 patients, 5 died, mostly of complications of lymphoma or leukemia. In conclusion, our findings indicate that breast amyloidosis is of the AL type in the vast majority of patients (usually kappa). It is associated with systemic amyloidosis in close to half of patients and with hematologic malignancy in the breast in over half of patients. Therefore, further work up to rule out hematologic malignancy and/or systemic amyloidosis is recommended. Mass spectrometry-based proteomics is superior to immunohistochemistry for typing of breast amyloidosis.

show abstract

Section: Discussioncontrasting

confidence: 63%

Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

See 2 more Smart Citations

Amyloidosis of the breast: predominantly AL type and over half have concurrent breast hematologic disorders

et al. 2013

View full text Add to dashboard Cite

show abstract

“…13 Ten of these cases were of the AL systemic type and were not associated with an underlying condition. 13 In systemic amyloidosis, involvement of the eyelids can occur, but orbital involvement is uncommon.…”

Section: Discussionmentioning

confidence: 99%

Severe Diffuse Systemic Amyloidosis with Involvement of the Pharynx, Larynx, and Trachea: CT and MR Findings

Gilad¹,

Milillo²,

Som³

2007

American Journal of Neuroradiology

View full text Add to dashboard Cite

SUMMARY:Amyloidosis is a term applied to a diverse group of disorders that share the deposition of amyloid protein in various extracellular tissues. Systemic amyloidosis may involve almost any organ system in the body including regions in the head and neck; however, pharyngeal involvement is rare, with only 12 cases having been previously reported. Ten of these cases were localized disease, and only 2 cases were systemic amyloidosis. We present the case of a patient with severe diffuse systemic amyloidosis with extensive involvement of the pharynx, larynx, trachea, lungs, eyelids, and breasts. We also review the imaging characteristics and pertinent literature.A myloidosis is a rare, infiltrative condition characterized by deposition of abnormal protein in various tissues. When systemic amyloidosis involves regions of the head and neck, the larynx and trachea are the most common sites. To date, there have been only 2 prior reported cases of systemic amyloidosis involving the pharynx. We present a case of severe diffuse systemic amyloidosis in the chest, head and neck, with extensive involvement of the pharynx and we review the literature. Case ReportThe patient was a 64-year-old woman with a history of myasthenia gravis for 30 years, type 1 diabetes mellitus, and amyloidosis for 4 years. In the past, the patient was found to have amyloid deposits in the eyelids and breasts. A biopsy confirmed findings consistent with the AL type (amyloid light chain) of amyloidosis. The patient presented with increased shortness of breath and hoarseness on the most recent hospital admission. There was no past medical history of renal failure or multiple myeloma. The patient was being treated for myasthenia gravis with pyridostigmine (Mestinon) and high-dose steroids and had received plasmapheresis therapy in the past. Physical examination was significant for bilateral ptoses and indurations of the eyelids, pharyngeal fullness, shortness of breath, and a decreased range of motion of the neck. Her urine was negative for Bence-Jones protein, and the results of serum protein and urine protein electrophoreses were unremarkable.A tracheostomy was performed, and a high-resolution chest CT study showed extensive interstitial lung disease, abnormally attenuated breast tissue (Fig 1) for the patient's stated age, and small nodules in the tracheal mucosa with marked thickening of the tracheal wall with significant stenosis (not shown). An endoscopic examination of the trachea revealed nodular deposits and plaques on the mucosal surface along its entire length. Noncontrast MR imaging of the neck was performed on a 1.5T magnet. Contrast was not administered because of a reported allergy to gadolinium. The images showed large submucosal, nodular masses in the pharynx and supraglottic larynx, and thickening of the tracheal wall with stenosis. These masses had intermediate T1-weighted signal intensity (Figs 2A) and low T2-weighted signal intensity ( Figs 2B, C, D). The large submucosal supraglottic laryngeal deposits were the primary cause of h...

show abstract

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

View full text Add to dashboard Cite

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.

show abstract

Amyloidosis of the breast

Cited by 55 publications

References 30 publications

Amyloidosis of the breast: predominantly AL type and over half have concurrent breast hematologic disorders

Amyloidosis of the breast: predominantly AL type and over half have concurrent breast hematologic disorders

Severe Diffuse Systemic Amyloidosis with Involvement of the Pharynx, Larynx, and Trachea: CT and MR Findings

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

Contact Info

Product

Resources

About