Is Familial Mediterranean Fever a Risk Factor for Malignant - PDF document

Abant Medical Journal doi: 10.5505/abantmedj.2014.84755 Volume Cilt 3 Issue Sayı 1 Year Yıl 2014 Olgu Sunumu / Case Report Is Familial Mediterranean Fever a Risk Factor for Malignant Peritoneal Mesothelioma: A Case Presentation and Literature Review Ailesel Akdeniz Ateşi Malign Periton Mezotelyoma için bir Risk Faktörü mü: Bir Olgu Sunumu ve Literatür Taraması Şafak Şahin 1 , Soner Şenel 2 , Saadettin Kılıçkap 3 1 Gaziosmanpaşa Üniversitesi, Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tokat 2 Erciyes Üniversitesi, Tıp Fakültesi, Romatoloji Bilim Dalı, Kayseri 3 Hacettepe Üniversitesi, Tıp Fakültesi, Onkoloji Bilim Dalı, Ankara Özet Abstract Ailesel Akdeniz ateşi (AAA) ateş ve serozal inflamasyon ile Familial Mediterranean fever (FMF) is an inherited disorder karakterize kalıtsal bir hastalıktır. Maling mezotelyoma characterized by episodes of fever and serosal inflammation. (MM) primer olarak plevranın daha az yaygın olarak da Malignant mesothelioma (MM) is a primary tumor of the periton, perikard ve tunika vaginalisin bir tümörüdür. MM, pleura and less commonly of the peritoneum, pericardium and AAA hastalarında çok nadirdir ve aralarındaki ilişki açık tunica vaginalis. MM is very rare in patients with FMF and its değildir. MM ve AAA arasında az sayıda vaka association is unclear. An association between MM and FMF çalışmalarında bir ilişki rapor edilmiştir. Bu noktada, biz was reported in a small number of previous case studies. daha önce AAA tanısı olan karın ağrısı ve şişkinlik Herein we report the case of a 51 - year - old Turkish male şikayetleri ile başvuran 51 yaşında bir Türk erkek hasta patient with a previous diagnosis of FMF presenting with rapor ediyoruz ve MM ile AAA arasındaki tartışmalı ilişkiyi abdominal pain and distension which were found to be due to literatür değerlendirmesi ile ortaya koyuyoruz. MM and discuss their association by means of a literature review. Anahtar Kelimeler: Ailesel Akdeniz ateşi, Malign Keywords: Familial Mediterranean fever, malignant mesothelioma, M694V . mezotelyoma, M694V mutasyonu . Introduction Familial Mediterranean fever (FMF) is an patients with FMF is very rare and its inherited disorder characterized by episodes of association with FMF is equivocal (3). There are fever and serosal inflammation. It is a genetic only a few reports of patients with FMF and disease with autosomal recessive inheritance malignant peritoneal mesothelioma (MPM). In this paper we report the case of a patient with and ethnic predilection. FMF occurs predominantly in Turks, Armenians, Arabs, and a previous diagnosis of FMF presenting with Sephardic Jews. A familial Mediterranean fever abdominal pain and distension which were gene (MEFV) has been identified on the short found to be due to MPM and discuss their arm of chromosome 16, and several mutations association by means of a literature review. in this gene have been identified in FMF patients (1). The disease and its complications Case report are usually controlled with colchicine treatment (2). A 51 - year - old Turkish male patient was admitted to our hospital because of abdominal Malignant mesothelioma (MM) is a primary pain and distention. He had been diagnosed tumor arising in the pleura or, less commonly, with FMF because of recurrent fever and in the peritoneum and pericardium. Risk abdominal pain attacks with familial history factors associated with its development over the last 20 years. Genetic analysis include asbestos exposure, chronic irritation or revealed that the patient was heterozygote for inflammation of the peritoneum, abdominal the M694V mutation in the MEFV gene. He radiotherapy, FMF and simian virus 40. MM in suffered about 10 to15 recurring peritoneal İletişim Bilgisi / Correspondence 67 Yard . Doç. Dr. Şafak Şahin, Gaziosmanpaşa Üniversitesi, Tıp Fakültesi, İç Hastalıkları Anabilim Dalı, Tokat E-mail: drsafaksahin@gmail.com Geliş tarihi / Received : 16.07.2013 Kabul tarihi / Accepted: 31.07.2013 Çıkar Çatışması / Conflict of Interest: Yok / None

Şahin Ş et al. attacks a year. In the last year, he had surface, and rarely from the tunica vaginalis or experienced unusual attacks of FMF with pericardium. Asbestos exposure is the most continuous and consistent levels of abdominal common etiological factor. However, exposure pain and distension accompanied by subfebrile to other fibers, mineral dust, various fever lasting longer than 10 days. He did not chemicals, and ionizing radiation as well as chronic serosal inflammation is also considered use colchicine regularly. There were no risks of malignancies. The patient had never smoked to increase the risk for these tumors (3). MM in and there was no history of malignancies in his patients with FMF is very rare and its family. Although FMF is endemic in the city of association with FMF is equivocal. In the Sivas in Turkey, there was no history of literature there are only a four reports of exposure to asbestos. There were no findings patients with FMF and peritoneal of systemic secondary amyloidosis. His mesothelioma (4 - 6). laboratory evaluations were as follows: Hemoglobin: 11.2 g/dL (12 - 18 g/dl), ESR: 58 We reviewed a total of 5 patients (4 male) with mm/1 h (0 - 15 mm/h), CRP: 5.3 mg/dL (0.0 - 0.8). FMF and MPM. Some comparable parameters Abdominal ultrasonography detected ascites in in our case and in other cases are summarized the patient. Examination of the peritoneal in Table 1. The ethnicities of these patients biopsy material revealed malignant were as follows: 2 of Jewish Moroccan, one of mesothelioma (epithelioid type, positive Turkish, one of Italian and one of Arabic calretinin WT:20% nuclear positive, cytokeratin Jordanian ancestry. The median disease 5/6:70- 80% positive cytoplasmic, mesothelin: duration of FMF was 30 years. In cases 1 and 2, 40- 50% luminal positive) (Fig 1). The patient there were no data about MEFV mutations and was treated with combination chemotherapy use of colchicine. Meanwhile, the presence of including cisplatin (80 mg/m2/day) and no other mutations apart from M694V pemetrexed (500 mg/m2/day) every 21 days. mutations in three of the cases was also However he died one month l ater. meaningful. The minimal disease duration was 20 and the maximum was 45 years. There is some evidence to support a possible association between mesothelioma and FMF. Only %10 - 30 of MM is peritoneal mesothelioma. Current studies have found a strong association between peritoneal mesothelioma and asbestos exposure (7). However in our case, there was no history of exposure to asbestos. The distribution of reported mesothelioma characteristics is different in patients with FMF than in mesothelioma in general. When most Figure 1: Peritoneal biopsy shows malignant mesotheliomas are pleural, those in patients mesothelioma cells (H&E x 200) with FMF are mainly peritoneal consistent with the fact that peritoneal inflammation is more Discussion common than pleural inflammation in FMF. Four of five published cases are peritoneal Familial Mediterranean fever (FMF) is a mesothelioma. There are multiple consistent disorder characterized by sporadic, paroxysmal lines of evidence linking inflammatio n to attacks of fever and serosal inflammation. FMF cancer. The inflammatory process is a co - factor occurs primarily in several ethnic groups in carcinogenesis in various malignancies. originating in the Mediterranean littoral (1). Examples include the association of hepatitis B MM is a rare neoplasm arising most commonly and C virus infection with hepatocellular from the mesothelial surfaces of the pleural carcinoma (8), inflammatory bowel disease cavity, occasionally from the peritoneal Abant Med J 2014 ; 3(1 ):67-69 68