Ocular manifestations of IgG4-related disease in children. More common than anticipated? Review of the literature and case report

IgG4-related disease (IgG4-RD) is an entity with various clinical manifestations. Histopathologically, it is characterized by lymphoplasmacytic infiltrates enriched in IgG4 (+) plasmacytes and usually fibrosis of the affected tissue. Most of the patients have also increased IgG4 serum levels and they respond to glucocorticosteroids. In children, due to its rare occurrence, IgG4-RD is ill defined. From the published studies, so far, it appears that ocular manifestations are very common in the paediatric population with IgG4-RD. Herein, we describe a new case of a child with IgG4-RD with ocular involvement manifested with orbit and eyelid swelling, successfully treated with steroids. In addition, we review the clinical, laboratory, histopathologic and radiologic characteristics of the published paediatric cases with IgG4-RD and ocular involvement, critically comparing them with the characteristics of the adult population. It seems that ocular manifestations are more frequently observed in children than in adults. Also, the pattern of involvement is different, with extraocular muscles and soft tissues being more commonly affected than the lacrimal glands

Undifferentiated embryonal sarcoma of the liver mimicking acute appendicitis. Case report and review of the literature

BACKGROUND: Undifferentiated embryonal sarcoma (UES) of liver is a rare malignant neoplasm, which affects mostly the pediatric population accounting for 13% of pediatric hepatic malignancies, a few cases has been reported in adults. CASE PRESENTATION: We report a case of undifferentiated embryonal sarcoma of the liver in a 20-year-old Caucasian male. The patient was referred to us for further investigation after a laparotomy in a district hospital for spontaneous abdominal hemorrhage, which was due to a liver mass. After a through evaluation with computed tomography scan and magnetic resonance imaging of the liver and taking into consideration the previous history of the patient, it was decided to surgically explore the patient. Resection of I–IV and VIII hepatic lobe. Patient developed disseminated intravascular coagulation one day after the surgery and died the next day. CONCLUSION: It is a rare, highly malignant hepatic neoplasm, affecting almost exclusively the pediatric population. The prognosis is poor but recent evidence has shown that long-term survival is possible after complete surgical resection with or without postoperative chemotherapy

Systemic Mastocytosis

A 64-year-old man was admitted to the hematology ward due to neutropenia and thrombocytopenia. The only symptom in the month preceding his admission, was significant weight loss. Based on clinical and laboratory investigations, specifically bone marrow aspiration and biopsy, the patient was diagnosed with aggressive systemic mastocytosis (WHO 2008 ICD-0 code 9741/3)

Flow Cytometry as a Diagnostic Tool in the Early Diagnosis of Aggressive Lymphomas Mimicking Life-Threatening Infection

Aggressive lymphomas can present with symptoms mimicking life-threatening infection. Flow cytometry (FC) is usually recommended for the classification and staging of lymphomas in patients with organomegaly and atypical cells in effusions and blood, after the exclusion of other possible diagnoses. FC may also have a place in the initial diagnostic investigation of aggressive lymphoma. Three cases are presented here of highly aggressive lymphomas in young adults, which presented with the clinical picture of fever of unknown origin (FUO) in patients severely ill. All followed a life-threatening clinical course, and two developed the hemophagocytic syndrome (HPS), but microbiological, immunological, and morphological evaluation and immunohistochemistry (IHC) failed to substantiate an early diagnosis. FC was the technique that provided conclusive diagnostic evidence of lymphoma, subsequently verified by IHC. Our experience with these three cases highlights the potential role of FC as an adjunct methodology in the initial assessment of possible highly aggressive lymphoma presenting with the signs and symptoms of life-threatening infection, although the definitive diagnosis should be established by biopsy. In such cases, FC can contribute to the diagnosis of lymphoma, independently of the presence of HPS

Littoral cell angioma of the spleen accompanied by haemophagocytic syndrome in a dialysis patient suffering from aa amyloidosis

Littoral cell angioma (LCA) is a rare form of vascular tumor unique to the spleen that arises from the specialized endothelial cells that line the splenic sinuses (littoral cells). Haemophagocytic syndrome (HS) is also a rare hematologic disorder that some times accompanies LCA. The authors describe a young dialysis patient with a history of familiar mediteranean fever and secondary amyloidosis who was found to have this rare association of AA amyloidosis with LCA and haemophagocytic syndrome

Predicting lymphoma in Sjögren's syndrome and the pathogenetic role of parotid microenvironment through precise parotid swelling recording

Objective: Parotid swelling (PSW) is a major predictor of non-Hodgkin lymphoma (NHL) in primary Sjögren's syndrome (pSS). However, since detailed information on the time of onset and duration of PSW is scarce, this was investigated to verify whether it may lead to further improved prediction. NHL localisation was concomitantly studied to evaluate the role of the parotid gland microenvironment in pSS-related lymphomagenesis. Methods: A multicentre study was conducted among patients with pSS who developed B cell NHL during follow-up and matched controls that did not develop NHL. The study focused on the history of salivary gland and lachrymal gland swelling, evaluated in detail at different times and for different durations, and on the localisation of NHL at onset. Results: PSW was significantly more frequent among the cases: at the time of first referred pSS symptoms before diagnosis, at diagnosis, and from pSS diagnosis to NHL. The duration of PSW was evaluated starting from pSS diagnosis, and the NHL risk increased from PSW of 2-12 months to > 12 months. NHL was prevalently localised in the parotid glands of the cases. Conclusion: A more precise clinical recording of PSW can improve lymphoma prediction in pSS. PSW as a very early symptom is a predictor, and a longer duration of PSW is associated with a higher risk of NHL. Since lymphoma usually localises in the parotid glands, and not in the other salivary or lachrymal glands, the parotid microenvironment appears to be involved in the whole history of pSS and related lymphomagenesis

Prognostic significance of HER3 and HER4 protein expression in colorectal adenocarcinomas

BACKGROUND: Colorectal cancer remains a major cause of cancer mortality in the Western world. A limited number of studies has been conducted in respect of Her-3 and Her-4 expression and their correlation with clinical parameters and prognosis in colorectal carcinomas . In this study we sought to determine the pattern and the prognostic significance of HER-3 and HER-4 in colorectal adenocarcinoma. METHODS: We studied HER-3 and HER-4 protein expression in106 paraffin embedded specimens of primary colorectal tumors using immunohistochemistry. The pattern and protein expression levels of HER-3 and HER-4 were correlated with several clinical and pathological parameters. RESULTS: HER-3 staining displayed membranous and cytoplasmic expression pattern in 18 (17%) and 30 samples (28,3%), respectively. HER-4 membranous and cytoplasmic expression was found in 20 (18,9%) and 32 samples (30,2%), respectively. Specimens regarded as positive for HER-3 cytoplasmic expression were associated with moderate tumor grade (p = 0,032) and older median age (p = 0,010). Specimens regarded as positive for HER-4 membranous protein expression were associated with involved lymphnodes (p = 0,0003). Similar results were obtained when considering Her-3 and Her-4 protein expression irrespective of their cellular localization. There was no correlation between the expression of HER-3 and HER-4 and patients outcome. CONCLUSION: HER-4 membranous protein expression was found to predict for lymph nodes positivity in this cohort of patients with colorectal cancer.HER-4 expression status may identify tumors with aggressive biological behavior and increased metastatic potential

Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 × 3 × 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment

Atypical manifestation of parathyroid carcinoma with late-onset distant metastases

Parathyroid carcinoma is an extremely rare endocrine malignancy that accounts for less than 1% of cases of primary hyperparathyroidism. We report a 44-year-old woman who presented with fatigue and diffuse bone pain. Laboratory findings revealed highly elevated serum calcium and parathyroid hormone (PTH) levels and a 4.5 x 3 x 2.5 cm cystic lesion in the lower pole of the right thyroid lobe that was shown histologically to be a parathyroid carcinoma. Ten years later, the patient developed brain and pulmonary metastases and recurrence of PTH-related hypercalcemia. Treatment of hypercalcemia along with localized radiotherapy and various chemotherapy regimens failed to induce a biochemical or radiological response. In conclusion, parathyroid carcinoma is a rare neoplasia that may develop metastases even after prolonged follow-up, for which there is no evidence-based treatment besides surgery. Different chemotherapeutic schemes did not prove to be of any benefit in our case highlighting the need for registering such patients to better understand tumor biology and develop specific treatment