The natural history of pancreatic lipoma: Does it need observation.

BACKGROUND: Pancreatic lipomas (PL) are a rare, benign mesenchymal neoplasm. Some patients diagnosed with PL are followed radiographically or referred to a second provider, while others are not followed after incidental diagnosis. In this study we describe 74 cases of intrapancreatic lipomas from a single institution over a 12-year period to elucidate the radiologic and clinical natural history of pancreatic lipoma. METHODS: In the period from January 2001 to December 2013, we selected patients over the age of 18 diagnosed with PL based on Ultrasound, CT, and MR imaging. Clinical data were coupled with review of the radiographic image. These patients were retrospectively followed to establish the significance of PL. RESULTS: PL was identified in 0.012% of all patients undergoing cross-sectional imaging during the studied interval. Lipomas ranged in size at diagnosis from 0.1 cm to 4.8 cm. The majority of patients were asymptomatic at presentation. No patient required intervention or exhibited a change in lipoma diagnosis over a median follow up interval of 41.5 months (range 2-145). 47 patients underwent subsequent imaging with a median of two additional exams (range 2-113) over 31 months (range 1-18). 46/47 (98%) patients with subsequent images showed no discernible growth; 1/47 (2%) had a resolution of the lipoma. CONCLUSIONS: Pancreatic lipomas are rare benign mesenchymal neoplasms that exhibit stable size and morphology. They are overwhelmingly asymptomatic. The natural history of pancreatic lipoma is benign. Short-term interval observation is prudent to prove stability and help differentiate from early liposarcoma. Extensive follow-up is not likely necessary for this benign lesion.

MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.

INTRODUCTION: Hereditary Non-Polyposis Colorectal Cancer is an inherited disease with deleterious germline mutations in the DNA mismatch repair genes causing the development of colon cancer and other malignancies. This is the first study in Hungary screening the population of our colorectal cancer patients in order to identify the prevalence of the disease. METHODS: In families who met the Modified Amsterdam and Bethesda Criteria the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Those cases which showed high microsatellite instability underwent DNA sequencing and multiple ligation dependent probe amplification. RESULTS: Of the 1576 patients with colorectal cancer underwent screening for the modified Amsterdam and Bethesda criteria, 69 (4.4%) and 166 (10.5%) fulfilled the criteria respectively. 15 patients (31%) of the Amsterdam positive group and 19 patients from the Bethesda positive (18.1%) were MSI-H. There were 8 pathogenic mutations identified in 9 families (60%) in the Amsterdam positive group. 5 mutations were found in 5 families (26%) in the Bethesda positive group. 12 pathogenic mutations were identified, two of these are newly identified, and being published first in this work. These two new mutations were located on MLH1 (g.31276_35231del) and MSH2 (c.969_970delTC) genes. CONCLUSION: The prevalence of the mutations in the MLH1 and MSH2 genes was almost equal in our Hungarian colorectal cancer patients. One mutation in the MLH1 gene (c.143A > C; p.Q48P) was identified in three different families. Whether this mutation is the most frequent in the Hungarian population is still unidentified and warrant further investigation.

The value of 18-FDG PET/CT in early-stage breast cancer compared to traditional diagnostic modalities with an emphasis on changes in disease stage designation and treatment plan.

BACKGROUND: Proper preoperative staging is vital in the treatment of breast cancer patients. The aim of our study was to assess the value of the diagnostic information provided by PET/CT in surgical practice in breast cancer cases considered early-stage by conventional diagnostic modalities. METHODS: Whole-body 18-FDG PET/CT was performed on 115 breast cancer patients in whom traditional diagnostic modalities showed no signs of distant metastases or extensive axillary and/or extra-axillary lymphatic spreading, and the size of the primary tumor was <4 cm. RESULTS: The sensitivity of PET/CT in the detection of the primary tumor was 93%. The sensitivity of the traditional diagnostic modalities in the detection of multifocality was 43.8% while that of PET/CT was 100% (p < 0.001). In the assessment of axillary lymph nodes, ultrasound had a sensitivity of 30% and a specificity of 95%. The corresponding estimates for PET/CT were 72% and 96%, respectively. PET/CT detected distant metastases in 8 patients. TNM classification was modified after PET/CT scanning in 54 patients (47%). PET/CT data changed the treatment plan established upon the results of traditional imaging modalities in 18 patients (15.6%). CONCLUSIONS: PET/CT is able to assess primary tumor size and axillary lymphatic status more accurately than traditional diagnostic methods. It can detect distant metastases in 7-8% of those patients who were declared free of metastasis by clinical investigations. PET/CT scan modifies the disease stage determined by traditional diagnostic modalities in almost half of the patients and leads to a change in the treatment plan in every 6th patient.

A new mutation in Muir-Torre syndrome associated with familiar transmission of different gastrointestinal adenocarcinomas.

Hereditary Nonpolyposis Colorectal Carcinoma (HNPCC) is the most frequent inherited disease which can lead to the development of tumors in the colon and other locations. Its genetic basis is related to the germline mutation of the Mismatch Repair (MMR) genes. Muir-Torre syndrome is considered one of the subtypes of this disease, in which the HNPCC tumor spectrum is frequently associated with sebaceous carcinoma of the skin or keratoacanthoma. A 57 years old male patient is presented with a mucinous carcinoma of the caecum and an adenocarcinoma of the pancreas head. A malignant sebaceous carcinoma was removed from his left neck area. His family history was significant for two cases of colon carcinoma, two cases of stomach cancer and a case of metacron endometrial and skin tumor as well. Both the colon carcinoma and the skin tumor proved to be microsatellite unstable. An Arg>Pro switch missense mutation was found in codon 265 of the hMLH1 gene. This error was found in 4 other members of his family. The detected genetic alteration was considered pathogenic and was not published yet in English literature. The significance of this particular case is the rare tumor association in a patient with Muir-Torre syndrome (MTS). In cases of sebaceous skin lesions, evaluation of family history is of utmost importance in the early detection of HNPCC and in the follow up care of family members with the particular mutation.

Difficulties in recognizing families with Hereditary Non-polyposis Colorectal Carcinoma. Presentation of 4 families with proven mutation.

INTRODUCTION: Hereditary Non-polyposis Colorectal Carcinoma is the most frequent genetic disease leading to colon and other malignancies. Recognizing the condition requires extensive family history going back several generations focusing particularly on the types of tumors occurring in the family at different age groups. METHODS: In families who met the Amsterdam and Bethesda Criteria, the removed tumor tissue was first examined by immunohistochemistry and microsatellite instability analysis. Subsequently DNA sequencing was performed to detect an underlying Mismatch Repair Gene mutation and multiple ligation dependent probe amplification was applied for recognizing large deletions in Mismatch Repair Genes. RESULTS: In the investigated families 3 pathogen mutations, 1 large deletion and 2 cases of polymorphism were found. There is considerable difference between the families in terms of the types of malignancies and the age in which those appeared. CONCLUSION: Recognizing families with Hereditary Non-polyposis Colorectal Carcinoma presents great difficulties because of the variety of phenotypes in presentation. Special attention should be paid to small families and those who present with cancer of other than colon origin. Practicing physicians should be made aware of the fact that this disease may have atypical presentations. Follow up of families who have already been screened may be difficult for social, economical or religious reasons.

Surgical treatment of morbid obesity.

Morbid obesity is a multifactorial disease with great importance because of its life threatening associated co-morbidities. Its treatment has many different aspects and needs multidisciplinary collaborations. The most powerful way of treatment is the surgical intervention, which demands thorough preoperative investigations and patient selection. The bariatric surgical procedures went through significant development and many of them have only historical importance. The different interventions can be classified into mal-absorptive, restrictive and combined subgroups. In Europe the laparoscopic adjustable gastric banding seems to be the most widely applied procedure, which is purely a restrictive intervention. Apart from the low rate of complications it has many advantages, which fact was not characteristic to the formerly used procedures. These include: minimal aggressivity, reversibility, preservation of the gastrointestinal anatomy, adaptability for demands of care.

[The role of MIBI scintigraphy in the early detection of breast cancer]. / A MIBI szcintigráfia szerepe az emlórákok korai diagnosztikájában.

The authors investigate the role of MIBI scintigraphy in the early diagnosis of breast cancer. The importance of early diagnosis is emphasized by the fact that breast cancer has the highest morbidity and mortality preceding cervical carcinoma amongst women. Retrospective examinations were made in case of 42 patients operated before because of breast cancer in order to examine accuracy of both mammography and scintigraphy in comparison with the results of histological diagnosis. In these cases sensitivity of scintigraphy turned out to be 69%, while its specificity 42%. In cases of mammographical investigations the sensitivity proved to be 74% and specificity was 61%. Besides mammography, scintigraphy has a very important additional role in the diagnosis of breast cancer. Because of its results and costs scintigraphy is not able to take over the mammography's dominant position (as a popular diagnostic method) but in selected patients' groups it can help to realise tumors as well as to avoid unnecessary operations or needle biopsis. Based on our results this method can give significant additional information in T1b and especially in T1c states of tumors. Therefore this method can be offered as an additional investigation in cases of physically realised or mammographically screened, but not-palpable, larger than 1 cm size lumps when there is little or moderate risk of malignancy.