Kanet Kanjanapradit

Prognostic Significance of Tissue Inhibitor of Metalloproteinase-1 in Breast Cancer

Introduction. Despite advances in breast cancer systemic treatment, new prognostic and predictive factors are still needed. Tissue inhibitor of metalloproteinase-1 (TIMP-1), a physiologic inhibitor of matrix metalloproteinases (MMPs), can act in both pro- and antitumoral effects. As role of TIMP-1 in breast cancer is controversial, we aimed to determine the prognostic significance of TIMP-1 in breast cancer. Methods. A single center-based case-control study was applied. Primary breast cancers from women with early stage disease treated with standard adjuvant therapy were analyzed by gene expression microarrays and immunohistochemistry for TIMP-1. Results. At the optimized cut-point, patients with high TIMP-1 RNA levels had a significantly shorter time to relapse, with a hazard ratio (HR) of 1.64 (P = 0.04), but without significant differences in overall survival (HR 1.29, P = 0.37). Although cytoplasmic overexpression of TIMP-1 protein was not correlated with early relapse (HR 1.0, P = 0.92), there was a tendency for short overall survival in patients with high expression (HR 1.41, P = 0.21). Conclusions. Our data indicate that elevated TIMP-1 RNA levels are independently prognostic for early recurrence, and there is a tendency for association of high cytoplasmic TIMP-1 protein levels with short survival in primary breast cancer.

Fetal Cardiac Rhabdomyoma With Hydrops Fetalis Report of 2 Cases and Literature Review

Rhabdomyoma is the most common cardiac tumor in fetuses, often associated with the tuberous sclerosis complex, especially when multiple tumors and a positive family history of tuberous sclerosis are noted. The tumor is often benign and has a tendency to regress but may increase in size until the early third trimester. Fetal cardiac rhabdomyoma complicated by hydrops fetalis and leading to fetal death is rare. We report 2 cases of fetal cardiac rhabdomyoma with hydrops fetalis and provide a review of the literature.

The “dot-in-circle” sign in musculoskeletal mycetoma on magnetic resonance imaging and ultrasonography

This study aimed to present the ‘dot-in-circle’ sign, which indicates the typical magnetic resonance imaging (MRI) and ultrasonographic (USG) findings for mycetoma involving soft tissue and bone. A total of 8 cases with histopathological proof of mycetoma affecting the musculoskeletal system, and that were examined via MRI and/or coexistent diagnostic ultrasonography between 2004 and 2013 in Songklanagarind Hospital were included in this study. The ‘dot-in-circle’ sign on the MRI and USG images of all the patients was reviewed by two radiologists. The analytic method was descriptive. All cases of musculoskeletal mycetoma revealed the ‘dot-in-circle’ sign on MRI, which was seen as multiple, small, round- to oval-shaped hyperintense lesions separated and surrounded by a low-signal intensity rim (circle), and a tiny, central, low-signal focus (dot). An USG study was available in four patients, and all USG findings demonstrated the ‘dot-in-circle’ sign as a central hyperechoic area (dot) surrounded by hypoechoic tissue (circle). In conclusion, the ‘dot-in-circle’ sign is a typical feature on MRI and USG findings for the diagnosis of musculoskeletal mycetoma.

Prenatal diagnosis of complete trisomy 9 with a novel sonographic finding of heart calcification.

Complete trisomy 9 is a rare chromosomal disorder. The prenatal sonographic features of fetuses with complete trisomy 9 are nonspecific. There are also some reports showing rare features such as abnormal calcification in the liver and hypochondral region.1–4 Complete trisomy 9 was first described in 1973 from cultured lymphocytes in an infant with congenital heart defects, skeletal abnormalities, and severe dysmorphism.5 Most cases of complete trisomy 9 result in spontaneous first-trimester abortion. Fetuses who survive to term generally have a mosaic state.6,7 Since the prognosis of fetuses with complete trisomy 9 is poor, and the survival rate is very low, prenatal diagnosis of this condition is beneficial to provide useful information for genetic counseling and prenatal care. Sonography is a noninvasive and helpful tool in detecting this condition, especially when fetal karyotyping is unavailable. Although there are overlapping prenatal sonographic findings between trisomy 9 and trisomy 18, the main characteristic findings of complete trisomy 9 are cardiovascular defects, intrauterine growth restriction, genitourinary abnormalities, and limb anomalies. Craniofacial dysmorphism and a single umbilical artery can also be detected in some cases.8,9 Most reported cases were confirmed by fetal karyotyping, either from amniotic fluid or lymphocyte cultures. Here we report a new sonographic finding in a complete trisomy 9 case, which was confirmed postnatally by autopsy along with fetal karyotyping. This finding provides useful information, which will help in prenatal diagnosis of this lethal condition. A 37-year-old woman, gravida 4, para 2012, was referred to our institution at a gestational age of 16 weeks 5 days for amniocentesis due to advanced maternal age and a history of a child with trisomy 21. The first fetal sonographic examination showed a singleton fetus with a strawberry head shape, a moderately hyperechoic bowel, overlapping fingers, and a single umbilical artery. A fetal echocardiogram revealed situs solitus and abnormal left-axis deviation. Interestingly, abnormal cardiac calcification was also detected in both ventricular walls and the interventricular septum (Figure 1). The estimated fetal weight was appropriate for gestational age. Amniocentesis was subsequently performed, and fetal karyotyping showed 47,XX,+9 by the standard G-banding technique. The second sonographic examination was performed at 19 weeks’ gestation. Intrauterine growth restriction was not observed, and no additional physical anomalies were detected. Genetic counseling was provided to the family. Cordocentesis was performed, which confirmed the complete trisomy 9 female karyotype. Termination of pregnancy was performed at 21 weeks 5 days, after which an autopsy report indicated a female abortus weighing 270 g with multiple dysmorphic features, including a broad-based nose, hypertelorism, micrognathia, low-set ears, clenched hands, a 2-vessel cord, and an imperforate anus. The heart with calcification in both ventricular walls and interventic-

Calcific myonecrosis following snake bite: a case report and review of the literature.

IntroductionCalcific myonecrosis is a rare condition in which muscle in a limb compartment undergoes necrosis and becomes peripherally calcified with central liquefaction. The patient usually presents with a slowly progressive enlarged mass that sometimes can be misdiagnosed as soft tissue sarcoma. Most of the reported cases showed that the disease occurs often after trauma or compartment syndrome. However, the case of calcific myonecrosis following snake bite is rarely reported.Case presentationA 66-year-old Thai woman presented with a gradually progressive enlarged mass over a period of 10 years in her left leg. She had a history of untreated compartment syndrome after she was bitten by a snake (Malayan pit viper) in her left leg when she was 14-years old. At presentation, a plain X-ray showed a large soft tissue mass at the anterior compartment of her left leg. A sheet-like mass with an enlarged central cavity combined with peripheral calcification and cortical erosion of her tibia were observed. A biopsy was performed and the result was negative for neoplastic cells. During a 5-year follow-up, the mass progressively enlarged and then became infected and finally broke through the skin. She was treated by excision of the mass and administration of antibiotics. The wound completed healed at 1 month postsurgery. There was no wound complication or disease recurrence at 1 year postoperation.ConclusionsThe diagnosis of calcific myonecrosis was done by history taking and radiographic interpretation. In an asymptomatic patient the management should be observation and clinical follow-up. A biopsy should be avoided due to the high rate of postoperative infection. Treatment of choice in a symptomatic condition is mass excision.

Molecular dynamic simulation of mutated β‑catenin in solid pseudopapillary neoplasia of the pancreas

Solid pseudopapillary neoplasia of the pancreas (SPN) is a rare pancreatic neoplasm that frequently harbors mutations in catenin β1 (CTNNB1, encoding β-catenin) as a part of its molecular pathogenesis. Mutations to CTNNB1 reported in SPN usually occur at the serine/threonine phosphorylation sites, including codons 33, 37 and 41, and the flanking residues of codon 33. On analysis of 3 cases of SPN, mutations to CTNNB1 were detected in codon 32 (D32A and D32Y). As this residue, aspartic acid, is not a direct phosphorylation site of the protein, molecular modeling tools were used to predict the influence of these mutations on the protein structure of β-catenin. A total of three MD simulations (wild-type, D32A, and D32Y) were performed to visualize the conformations of β-catenin under in vivo, aqueous-phase conditions at 37°C. In the wild-type protein, the secondary structure of residues P16-H28 remained helical; we therefore hypothesized that the helical structure of this protein fragment (residues M11-G50) was necessary for phosphorylation of S33 phosphorylation. The loss of the secondary structure in P16-H28 was observed in D32A, losing its helical structure and becoming a turn; however, in the D32Y mutant, the helical structure remained. The present demonstrated that structural changes in the mutated β-catenin protein at D32 could potentially explain the mechanism behind its defective phosphorylation in the pathogenesis of SPN.

Multiple, primary brain tumors with diverse origins and different localizations: Case series and review of the literature

Background: Multiple, primary brain tumors with different histological types occurring in the same patient are extremely rare. Several hypotheses have been proposed, and the pathophysiology of coexisting tumors has long been debated; however, due to low incidence, standard practices for this scenario are still inconclusive. Case Description: The authors describe 6 cases of coexisting tumors. By conducting a literature research focused on the computed tomography (CT) era and patients without prior radiation or phakomatosis. Sixty-five such reported cases were identified. In addition, the authors summarize their experience in 6 patients including histopathological features, chronological presentations, outcomes, mortality, and management from their series as well as from previous cases from the reported literature. Conclusion: The coexistence of multiple, primary brain tumors is an interesting condition. Surgical management remains the major treatment; malignant histology has a poor prognostic factor.

Quality of tissue from punch biopsy forceps vs. round loop electrode in colposcopically directed biopsy: a randomized controlled trial

Objective To compare the quality of tissue from punch biopsy forceps (PB group) with round loop electrode (LE group) in colposcopically directed biopsy along with the evaluation of pain associated with each procedure. Methods Patients with abnormal cervical cytologic results and abnormal colposcopic findings were enrolled into a randomized trial into either a PB group or LE group. The quality of tissue was evaluated in regards to the size of tissue, site of tissue, and tissue damage. Each quality had 1 to 3 points and the sum of each quality contributed to the total tissue score that ranged from 3 to 9. Pain associated with each procedure was assessed by a visual analog scale (VAS). This was a clinical trial study and was registered at www.clinicaltrials.in.th (Identifier: TCTR20160404001). Results Ninety-six women who met all eligibility requirements were enrolled in the study. Forty-eight patients were randomly assigned to the PB group and 48 patients were randomized into the LE group. The characteristics of the patients were similar between the 2 groups with the exception of the median age. The median total tissue score was 8 points in the LE group which was more than the median of 7 points in the PB group with a statistically significant difference (p=0.014). However, the median VAS pain score in both groups was 3.4 (p=0.82). Conclusion The quality of cervical tissues obtained from biopsy with a round loop electrode was better than the punch biopsy forceps with no difference in the level of pain.

Spinal capillary hemangiomas: Two cases reports and review of the literature

Hemangiomas have rarely been found in the spinal cord. A few cases of spinal capillary hemangioma have been reported since 1987. The authors reported the two cases of capillary hemangioma including the tumor at conus medullaris and the another mimicked von Hippel-Lindau disease. A 15-year-old man was presented with coccydynia and left leg pain. A magnetic resonance imaging (MRI) revealed an intradural extramedullary enhancing mass at conus medullaris. Another case, a 31-year-old man was presented with a history of familial history of brain tumor, retinal hemangioma both eyes, multiple pancreatic cyst and syringobulbia with syringohydromyelia. On MRI, a well-circumscribed intramedullary nodule was detected at C5-6 level and multiple subpial nodule along cervicothoracic spinal cord. All patients underwent surgery, and the histological diagnosis confirmed capillary hemangioma. Although rare and indistinguishable from other tumors, capillary hemangioma should be in the differential diagnosis of the spinal cord tumor.