[Corneal deposits in monoclonal gammopathy of undetermined significance. Review of the literature and case report]. / Szaruhártya-lerakódások bizonytalan jelentoségu monoklonális gammopathiában. Irodalmi áttekintés és esetbemutatás.

To summarize ophthalmological signs of monoclonal gammopathy of undetermined significance (MGUS) and to present a case report. Summary of the literature data and presentation of the history of a 46-year-old female patient. In MGUS, pathological, but non-malignant plasma cells produce abnormal monoclonal immunoglobulin. Its prevalence is 0.15%, but it increases with age. As yearly 1-2% of MGUS patients develop multiple myeloma, frequent hematological follow-up is necessary. Corneal opacifications in MGUS have been described in a few dozens of patients in the literature. These may be nummular or crystal-like, or even present with white or grey line-forming depositions in the stroma. They may be centrally or peripherally localized. In our patient, bilateral, branching, geographical corneal opacifications were detected predescemetally, that were progressing and reaching the optical centre during follow-up. With 0.15 best corrected visual acuity, penetrating keratoplasty was performed (postoperative best spectacle-corrected visual acuity 0.6). Masson trichrom staining of the explanted cornea verified protein deposition, immunhistochemistry identified kappa light chain immunglobulin deposition in the posterior stroma, surrounded with inflammatory cells. Serum electrophoresis and bone marrow biopsy of our patient proved MGUS, therefore, hematological follow-up is going on. In the case of progressive, atypical corneal opacification, the hematological diagnosis of monoclonal gammopathy must be excluded - monoclonal gammopathy of ocular significance -, as delay in proper diagnosis and treatment of the systemic disease may have devastating consequences. Orv Hetil. 2018; 159(39): 1575-1583.

[Effect of surgery of pulmonary cysts related to immunoglobulin light chain deposits]. / Intérêt de la chirurgie de kystes pulmonaires liés à des dépôts de chaînes légères.

INTRODUCTION: Light chain deposition disease is a rare anatomo-clinical disorder, which rarely leads to cystic lung destruction. CASE REPORT: We report the case of a 62years old female patient with a history of a monoclonal gammopathy of unknown significance who developed progressive dyspnea. Thoracic CT-scan demonstrated a diffuse pulmonary cystic disorder with predominance in the right lower lobe. Thoracoscopic surgical resection of that lobe led to a diagnosis of non-amyloid kappa light chain deposits. Surgery also resulted in a lung volume reduction effect with clinical and functional benefits related to improved ventilation of adjacent segments. CONCLUSION: This report of pulmonary cystic disorder related to a light chain deposition disease highlights the potential clinical and functional benefits observed after lung volume reduction surgery.

Immunoglobulin light chain amyloidosis diagnosis and treatment algorithm 2018.

Immunoglobulin light chain amyloidosis (AL) should be considered in any patient that presents to a cancer care provider with nephrotic range proteinuria, heart failure with preserved ejection fraction, non-diabetic peripheral neuropathy, unexplained hepatomegaly or diarrhea. More importantly, patients being monitored for smoldering multiple myeloma and a monoclonal gammopathy of undetermined significance (MGUS) are at risk for developing AL amyloidosis. MGUS and myeloma patients that have atypical features, including unexplained weight loss; lower extremity edema, early satiety, and dyspnea on exertion should be considered at risk for light chain amyloidosis. Overlooking the diagnosis of light chain amyloidosis leading to therapy delay is common, and it represents an error of diagnostic consideration. Algorithms will be provided on how to evaluate patients with suspected AL amyloid as well as how to manage patients referred from other medical specialties with biopsy-proven amyloid. An organized stepwise approach to the treatment of patients with light chain amyloidosis, including established and investigational therapies, will be reviewed.

[The pressure-sensitive swelling in the knee as a sign for a monoclonal gammopathy of undetermined specificity (MGUS)]. / Die druckdolente Schwellung in der Kniekehle als Wegweiser einer monoklonalen Gammopathie unklarer Spezifität (MGUS).

AL amyloidosis (AL-A) is seen in about 6-15 % of patients with multiple myeloma. In contrast, the sporadic occurrence of AL-A is a rarity. The presence of amyloid is often found in the respiratory tract followed by the lung, the eyelids, the skin and the lower urinary tract, while the presence in soft tissues or bone is rather uncommon. We here describe a 71-year-old woman who presented with a pressure-sensitive swelling in the left knee at our hospital. The clinical examination on admission showed a tumourous alteration of the popliteal soft tissues without any signs of neurological deficits. However, the range of motion (ROM) of the left knee was restricted with 0-0-100 degrees for extension and flexion. A dialysis-dependent renal insufficiency, heart insufficiency with the necessity of permanent anticoagulation and glaucoma were noted as pre-existing illnesses. Further diagnostic examinations including ultrasound and magnetic resonance imaging (MRI) of the left knee revealed a solid tumourous structure with a radiological suspicion of pigmented villonodular synovitis. A complete surgical extirpation of the tumourous structure was performed. The further performed diagnostic examinations including histological and immunohistochemical analyses showed evidence of an AL-A tumour. A monocloncal gammopathy of unknown specificity (MGUS) was detected as an origin for the AL-A. This case underscores the necessity of complete extirpation and histological and immunohistochemical analyses of any soft tissue tumour. Possible previously existing rare malignant diseases can be detected only in this way.

Crystal-storing histiocytosis as a cause of symptomatic cardiac mass.

Crystal-storing histiocytosis is a rare disorder that is typically associated with low-grade B-cell lymphomas and monoclonal gammopathy. We present a 64-year-old man with a prior history of weakness and weight loss and hematologic evaluation that had revealed immunoglobulin G kappa monoclonal light chains in the serum and negative bone marrow biopsy. He presented with supraventricular tachyarrhythmia and a right atrial mass seen on echocardiogram and excised surgically. Histologically, the tumor was composed of sheets of macrophages infiltrating the atrial myocardium. The histiocytes were filled with multiple needle-shaped, periodic acid-Schiff-negative crystals. These cells and associated plasma cells failed to show clonal light chain restriction by in situ hybridization or immunohistochemistry, and there was no area of lymphoma in the tumor. Ultrastructural examination showed numerous stick-like, trapezoidal, or polygonal dense crystals in the cytoplasm of histiocytes corroborating the diagnosis of crystal-storing histiocytosis. Although rare, crystal-storing histiocytosis should be included in the differential diagnosis of heart masses in patients with hematologic conditions associated with monoclonal gammopathy.

Complete response in myeloma extends survival without, but not with history of prior monoclonal gammopathy of undetermined significance or smouldering disease.

Complete response (CR) is still considered an important surrogate marker for outcome in multiple myeloma (MM). Long-term survival after transplantation, however, has been observed in a substantial proportion of patients who never achieved CR. The tandem transplant trial, Total Therapy 2, enrolled 668 patients, who were randomised up-front to thalidomide (THAL) or no THAL; 56 patients were identified as having had, for at least 6 months prior to initiation of therapy, monoclonal gammopathy of undetermined significance (MGUS, n = 21), smouldering MM (SMM, n = 22) or solitary plasmacytoma of bone (SPC, n = 13). The clinical characteristics and outcomes of patients with such 'evolved' MM (E-MM) and of those with 'unknown' prior history (U-MM) were compared. Fewer patients with MGUS/SMM-E-MM had anaemia or renal failure; CR was lower (22% vs. 48%) but 4-year estimates of event-free survival (54% vs. 56% with U-MM) and overall survival (65% vs. 70% with U-MM) were similar to those with SPC-E-MM or U-MM. In the latter group, achieving CR was associated with prolonged survival. In comparison with U-MM, E-MM evolved from MGUS/SMM was associated with lower CR rate without adversely affecting survival. In contrast, CR was an independent favourable feature for survival in U-MM.

Gaucher's disease associated with monoclonal gammapathy of undetermined significance: a case report.

We report a case of adult-type Gaucher's disease associated with monoclonal gammapathy of undetermined significance. Bone marrow infiltration by Gaucher's cells and spleen infiltration by Gaucher cells and plasma cells was observed on cytohistologic examination. Splenectomy induced complete recovery of cytopenias and a marked reduction of the monoclonal protein.