Familial Mediterranean fever gene mutation frequencies and genotype�Cphenotype correlations in the Aegean region of Turkey

Familial Mediterranean fever (FMF) is a disease characterized by recurrent, self-limiting fever and serositis and caused by altered pyrin due to mutated MEFV gene. The aim of this study was to investigate clinical manifestations and MEFV mutations among patients with FMF and healthy controls in the Aegean region of Turkey. This study included 308 patients and 164 healthy controls. Patients were divided into three groups according to Tel-Hashomer criteria; definitive, probable, and suspicious. Among the patients, 146 were women (47.4%) and 162 were men (52.6%). The mean age (±SD) of the patients at the diagnosis was 9.6 ± 3.95 (range 0.5–18). The mean age (±SD) at onset of the symptom was 6.2 ± 3.95 (range 1–18). Symptoms were seen earlier onset in definitive group than the suspicious group in our cohort (4.7 ± 3.9 years, 6.6 ± 3.9 years, respectively; P = 0.001). Clinical features were abdominal pain (83.1%), fever (55%), arthritis (17.1%), myalgia (4.5%), pleuritis (10%), and erysipelas—like erythema (7.7%). Fever, arthralgia, arthritis, chest pain, and amyloidosis were found statistically significant more in definitive group than suspicious group (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.001, respectively). MEFV gene mutations were identified in 199 patients (64.6%). The most commonly encountered MEFV mutation among the patients was M694V homozygote (25%). M694V homozygous mutation was found most frequently in definitive FMF group than other groups (49, 9, 8.9%, respectively). To our knowledge that FMF should be suspected in the case of non-specific but recurrent attacks of serositis and high fever, and molecular analysis should be performed in order to make diagnosis of FMF.     

Long‐term analysis of phase II studies of single‐agent lenalidomide in relapsed/refractory mantle cell lymphoma

Mantle cell lymphoma (MCL) is a type of non‐Hodgkin lymphoma (NHL) with aggressive disease characteristics resulting in multiple relapses after initial treatment. Lenalidomide is an immunomodulatory agent approved in the US for patients with relapsed/refractory MCL following bortezomib based on results from 3 multicenter phase II studies (2 including relapsed/refractory aggressive NHL and 1 focusing on MCL post‐bortezomib). The purpose of this report is to provide longer follow‐up on the MCL‐001 study (follow‐ups were 6.8 [NHL‐002], 7.6 [NHL‐003], and 52.2 [MCL‐001] months). The 206 relapsed MCL patients treated with single‐agent lenalidomide (25 mg/day PO, days 1 to 21 every 28‐days) had a median age of 67 years (63% ≥65 years), 91% with stage III/IV disease, and 50% with ≥4 previous treatment regimens. With a median follow‐up of X, the combined best overall response rate (ORR) was 33% (including 11% with complete remission [CR]/CR unconfirmed CRu). Lenalidomide produced rapid and durable responses with a median time to response of 2.2 months and median duration of response (DOR) of 16.6 months (95% CI: 11.1%‐29.8%). The safety profile was consistent and manageable; myelosuppression was the most common adverse event (AE). Overall, single‐agent lenalidomide showed consistent efficacy and safety in multiple phase II studies of heavily pretreated patients with relapsed/refractory MCL, including those previously treated with bortezomib.     

Dense eosinophilic infiltration of the mucosa preceding ulcerative colitis and mimicking eosinophilic colitis: report of two cases.

There is increasing evidence about the involvement of eosinophils in the pathogenesis of inflammatory bowel disease. We report here two patients with ulcerative colitis who were initially diagnosed as eosinophilic colitis based on histopathological examination during their first attacks. They had symptomatic improvement with ketotifen and metronidazole during their first attacks. However, subsequent attacks which were histopathologically diagnosed as ulcerative colitis did not resolve with the above-mentioned treatment and necessitated a treatment with 5-ASA agents plus corticosteroids. Azathioprine also had to be added in the treatment of the second patient. Dense eosinophilic infiltration in these cases may suggest a role of eosinophils in the initiation of attacks in some ulcerative colitis patients.     

A rare case of synchronous leiomyosarcoma and urothelial cancer of the bladder

We report a case of a 44-year-old woman who had coexisting distinct and separate primary tumors of the bladder: a leiomyosarcoma and a transitional cell carcinoma (urothelial cancer). The patient presented with macroscopic hematuria. A computed tomography scan of the pelvis showed a bladder mass along the left anterolateral wall. A transurethral resection of the bladder was performed. A pathological examination revealed that the mass was leiomyosarcoma. The patient underwent radical cystectomy with ileal conduit diversion. The urinary cystectomy specimen revealed an 11 cm x 6 cm x 5 cm solid mass on the left anterolateral wall and two 1-cm papillary tumors with different localization on the right and left lateral walls of the urinary bladder. Pathological examination revealed that the masses were high-grade leiomyosarcoma and urothelial cancer. Because of the differences in the histogenesis and prognosis, such cases should be differentiated from cases of carcinosarcoma of the urinary bladder. Synchronous occurrence of urothelial cancer and sarcoma as two separate primary tumors in the bladder is very rare. To our knowledge, seven cases of coexisting sarcoma and transitional cell carcinoma of the urinary bladder have been reported in the literature.     

Rare causes of gastrointestinal hemorrhage in infancy

Gastrointestinal hemorrhage in children is a critical condition that demands quick and effective management. The differential diagnosis of gastrointestinal hemorrhage is wide. Heterotopic pancreas is a rare congenital anomaly and usually discovered incidentally. It is generally asymptomatic, but symptoms may occur when complicated by inflammation, bleeding, obstruction or malign transformation. Heterotopic pancreas may present throughout the gastrointestinal tract, but it is most commonly found in the stomach, duodenum and proximal jejunum. Juvenile polyps are common during childhood and present most often with painless rectal hemorrhage. They remain the most common colonic polyps in children. Colonoscopic polypectomy is the most effective procedure in the treatment of juvenile polyps. In this study, we describe rare causes of gastrointestinal system hemorrhage in infancy and discuss some diagnostic and therapeutic approaches.