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Adrenal incidentaloma (AI) is an incidental detection of an adrenal mass on an image not performed for a suspected adrenal problem. AI has become a commonly encountered lesion that requires further investigations for evidence of hormonal hypersecretion or malignancy potential. According to guidelines, surgical intervention is the standard of care for unilateral AI. We report on a case of a 64-year-old female who presented with a nonfunctional adrenal mass associated with compressive symptoms, which was revealed to be a mixed hyaline vascular and plasma cell variant Castleman disease (CD) after surgical resection. Although hyaline vascular variant and plasma cell variant of CD has been identified in adrenal glands, this is the first report of a mixed hyaline vascular and plasma cell variant in an adrenal mass.

Pediatric-type follicular lymphoma is an uncommon and newly recognized entity of lymphoid neoplasm commonly encountered in the young population. Despite its indolent clinical course and localized nodal involvement, it has been characterized by its high-grade histopathological features. The overlapping features between this disease and several entities have made approaching this unique entity significantly challenging, with all such features being reflected in the strict diagnostic criteria highlighted by the WHO 2016 lymphoid malignancy classification. Despite its characteristic high-grade histology, its cure rates have remained high, with relapse and transformation rarely occurring. Interestingly, several cases have achieved remission following nodal disease resection, possibly eliminating the need for chemotherapy and radiation and preventing long-term morbidities from later approaches in disease survivors.

Sanger Sequencing and immunohistochemistry was employed to investigate the TERT promoter mutations and TERT protein expression with their association to clinicopathological characteristics in over 2200 samples of Middle Eastern origin from 13 different types of cancers. The TERT promoter mutations were most frequently present in bladder cancer (68.6%), followed by central nervous system tumors (28.7%), thyroid cancer (15.4%), prostate cancer (9.3%), endometrial carcinoma (3.7%), rhabdomyosarcoma (1.4%), colorectal cancer (1%), epithelial ovarian carcinoma (0.7%) and breast cancer (0.7%). No mutations were observed in other types of cancers. In bladder cancer, we found significant inverse association with metastasis and a trend to good survival in patients with TERT mutations. In gliomas, TERT promoter mutations predicted poor prognosis. In thyroid cancer, high frequency of TERT mutation was observed in poorly differentiated carcinoma. In addition, TERT promoter mutations were associated with aggressive markers and poor outcome in follicular thyroid carcinomas.

Aims Transthoracic (TTE), transesophageal echocardiography (TEE), and cardiac Magnetic Resonance Imaging (MRI) are usually the mainstay for diagnosis of cardiac myxomas (MYX). It has been reported that three dimensional (3D) TEE has an additional value in describing the anatomical features. MYX are classified in two types: solid (with a round shape and a non-mobile surface) and papillary (asymmetrical shape with an irregular surface). Even though embolic events are linked to thrombus formation in both types, the latter are more frequently source of embolism. The detection of the attachment of the peduncle and a detailed assessment of the echotexture and of the surface characteristics of the tumour is not always possible by 2D TTE and TEE, therefore MRI is considered the gold standard for diagnosing cardiac tumours and myxomas. Our study aim to determine the accuracy of 3D echocardiographic techniques in the detection of the following anatomical features of the MYX: site of attachment (mid atrial septum, other locations), modality of attachment (pedunculated or sessile), echotexture, surface characteristics in comparison with MRI, and histological findings. Methods and results We retrospectively reviewed 11 cases of the confirmed myxomas by histology that underwent 2D, 3D TEE, and MRI (6 cases) in the past 6 years in order to assess the ability of the imaging techniques in identifying the anatomical features. Pathology samples were analysed in all patients. Differences in parameters were collected. Our study group is comprised by 10 patients (one recurrence), 8 female, mean age 45.6 ± 14.6 years with 15 myxomas; 11 located in the left atrium [one in left atrial appendage (LAA), one on the mitral valve annulus, 9 near the fossa ovalis], 3 in the right atrium, and 1 on the left ventricular outflow tract (LVOT). Seven were pedunculated, 8 sessile. 2D TEE was not able to diagnose two myxomas. There was an agreement between 2D TEE and 3D TEE in detecting the peduncle except in three patients (only seen by 3D TEE): in the first patient the peduncle was in the atrial septum close to the opening of the left upper pulmonary vein; in the second it was close to the LAA and in the last it was in the LVOT. 3D TEE echotexture analysis matched the pathology in all cases, also in one case of solid tumour with fimbriated edges on a one side which was found to have a clot formation at surgery. There was an excellent matching between the 3D TEE and the MRI in all cases. In our cohort 3DE was able to detect all the morphologic features of the MYX including the site and the type of attachment, the echotexture, and the surface characteristics. The above results led to predict the histologic type, solid, or papillary and there was a correlation with embolism (three patients) and papillary tumours (two patients). Conclusions 3D TEE and MRI are reliable in assessing the anatomical features of myxomas. The described additional features (peduncle, echotexture, and surface characteristics) seen by these two methods could predict the histological type and have an additional value in the work up of the myxomas leading to correct diagnosis and evaluation of possible complications such as embolic risk. This is helpful to suggest in the management (antiplatelet vs. anticoagulation) and has a pivotal role in programming surgery.

Background Locally advanced nasopharyngeal carcinoma (LA-NPC) is a relatively rare disease in the west but more common in East Asia and areas of the Middle East like Saudi Arabia. Despite the advances in radiation therapy techniques, some patients relapse after treatment. In the coming era of cancer immunotherapy, prognostic factors for LA-NPC need to be further defined using immune-relevant markers. Several markers are available; however, the most robust and accessible/affordable marker is not well-defined. Methods Retrospectively, tumor-infiltrating lymphocytes (TIL), their subsets as well as tumoral PD-L1 expression were analyzed in tumor tissues from 63 LA-NPC patients treated with platinum-based concurrent chemo-radiotherapy (CCRT) in addition to 20 cases with metastatic (MET) disease. Immunostaining was done using a validated and fully automated system. Scoring was done by two independent pathologists and results were compared. Results There was no statistical difference between LA-NPC and MET disease in terms of CD3+, CD8+ TIL infiltration, or tumoral PD-L1 expression. In LA-NPC, low CD3+ TIL infiltration highly correlated with shorter disease-free survival (DFS, HR = 8.5, p = p = 0.015) with substantial agreement between scoring pathologists. A similar correlation was found between low CD8+ TIL and survival. Correlation of total TIL was significant with DFS (HR = 4.0, p = 0.008), borderline with OS and the correlation was dependent on the scoring pathologist. Having histological WHO type I&II correlated significantly with shorter DFS (HR 4.03, p = 0.008) and low CD3+ TIL (p = 0.009). Subgroup analysis of LA-NPC that included undifferentiated type (WHO type III) cases only (n = 58), showed a strong correlation between low CD3+ TIL and shorter DFS (HR = 7.2, p = p = 0.008). PD-L1 was expressed in 72% of type III LA-NPC cases while lacking PD-L1 expression correlated with shorter OS (HR = 6.1, p = 0.031). Patients with a combination of low CD3+ TIL and lack of PD-L1 expression had the worst OS (p Conclusions CD3+ TIL is promising as a robust and independent prognostic marker for DFS and OS of LA-NPC patients treated with platinum-based CCRT. We would suggest the use of CD3 + TIL as a stratifying factor for LA-NPC, which warrants further validation in prospective trials.

Primary mediastinal synovial sarcomas are exceedingly uncommon tumors. Herein, we present the case of primary mediastinal synovial sarcoma (monophasic spindle cell-shaped variant) fully occupying the right hemithorax in a 37-year-old woman who presented to clinic with a 2-month history of right-sided chest pain and shortness of breath. Although extremely rare, however, synovial sarcoma should be considered in the differential diagnosis of all monophasic and biphasic spindle cell neoplasms of the mediastinum. Despite molecular testing for (t[x; 18] [p11.2; q11.2]) is characteristically positive in 90% of synovial sarcoma cases, it is not routinely done. Histopathological and immunohistochemical analyses can greatly confirm the diagnosis. Optimal surgical resection is the standard of care. Adjuvant therapy (radiotherapy and/or chemotherapy) is indicated in inoperable advanced disease or unachieved surgical tumor-free surgical margins. Prognosis is poor with a 5-year overall survival (OS) rate of 35.7%. Early diagnosis and prompt appropriate management yield better disease-free and OS rates.

Locally advanced nasopharyngeal carcinoma (LA-NPC) is more prevalent in some geographic regions, including Saudi Arabia. Typically, Tumor-Node-Metastasis (TNM) staging is used in NPC. However, it is inadequate to assess the prognosis of LA-NPC. Therefore, we analyzed and compared several previously reported prognostic factors in LA-NPC patients, retrospectively, including CD3+tumor-infiltrating lymphocytes (TIL) and peripheral blood hemoglobin, EBV DNA copy number, ratios of albumin-to-alkaline phosphatase ratio (AAPR), neutrophils, or platelets-to-lymphocytes (NLR, PLR). The studied cohort was 83 LA-NPC patients previously recruited for a randomized phase II trial with a different aim. Univariate cox regression analysis showed no significant correlation between any of the tested variables with disease-free survival (DFS) or overall survival (OS) with the exception of low CD3+ TIL infiltration, which correlated significantly with DFS (HR = 6.7, P =

Organizing pneumonia (OP) may be idiopathic or secondary to a variety of causes including drugs. OP and other forms of pulmonary toxicity secondary to cetuximab, however, have been described rarely. It is paramount to recognize and differentiate OP from other common conditions that cancer patients are prone to such as infection and pulmonary embolism. A 69-year-old man with colorectal cancer received ten cycles of palliative chemotherapy [FOLFIRI (5-Fluorouracil, Leucovorin, Irinotecan) and cetuximab] with clinical and radiological response. He developed dyspnea following cycle 4, then 6 weeks later presented with cough, fever, tachypnea, hypoxia, bilateral crackles and diffuse pulmonary shadows. He was started on antibiotics but his condition deteriorated further. Cultures, including blood and bronchioalveolar lavage, grew no pathogens and molecular analysis and cytology for bacteria viruses were negative. Trans-bronchial biopsy was consistent with organizing pneumonia. Treatment with corticosteroids resulted in dramatic clinical and radiological resolution with normalization of gas exchange and pulmonary function. Corticosteroids were stopped and he was restarted on FOLFIRI and remained well with no relapse over a year of follow up. Although pulmonary toxicity secondary to cetuximab is uncommon, it is important to recognize, as it may be associated with poor prognosis. To the best of our knowledge, this is the first report of OP attributed to cetuximab with histopathological evidence.

Patient: Male, 30 Final Diagnosis: Benign pericardial schwannoma Symptoms: Chest pain Medication: — Clinical Procedure: — Specialty: Surgery Objective: Rare disease Background: Primary pericardial tumors have a prevalence of between 6.7% and 12.8% of all tumors arising in the cardiac region. Pericardial schwannoma is a rare entity. It arises from the cardiac plexus and vagus nerve innervating the heart. Most of the reported cases, have presented with benign behavior, however, in rare situations, they can undergo transformation to malignant behavior When comparing the prevalence of cardiac tumors to that of pericardial tumors, the latter is much lower in occurrence. A review of English literature identified six pericardial schwannoma cases. Case Report: We present a case of a 30-year-old male patient who presented to our center with the chief complaint of six months of gradually progressive left chest pain. His past medical history (PMH) was positive for panic attacks (for which he was taking beta-blockers), paroxysmal tachycardia, sweating, and irritability. A computed tomography chest scan was done; a differential diagnosis of paraganglioma was suggested. However, histopathological examination confirmed the pericardial mass was a schwannoma. The patient was surgically treated by thoracotomy to resect the lesion. Conclusions: This case adds to the existing limited literature on pericardial schwannoma as the seventh reported case. Neurogenic cardiac tumors; our case marks the second case reported to occur in the subcarinal area near the left atrium.

Pleural schwannomas are exceedingly rare neoplasms of the thoracic cavity. To the best of our knowledge, less than 20 cases have been reported in the medical English literature. Herein, we report the case of primary pleural benign myxoid schwannoma in an 18-year-old female. The patient was originally referred to our tertiary care hospital for further management of right adrenal gland mass. Physical examination and all laboratory tests were normal. Contrast-enhanced computed tomography scan showed a4.2×3.2 cm, heterogeneous noncalcified mass involving the right adrenal gland region. The right renal vein and inferior vena cava were intact. There was no pleural effusion, ascites, or lymphadenopathy. No pelvic masses were identified. Patient was scheduled for surgical resection. On laparotomy, the mass was not found in its radiologically expected location, and the right kidney and right adrenal gland were intact. The right-sided lower part of diaphragm was opened, and the mass was interestingly found inside the thorax attached to the pleura, and resected successfully. A final histopathological diagnosis of primary pleural benign myxoid schwannoma was established. At a postoperative 6-month followup, there was no radiological evidence of tumor recurrence. Furthermore, literature review on pleural schwannomas is also presented.

BackgroundPulmonary fibrosis is one of the leading indications for lung transplantation. The disease, which is of unknown aetiology, can be progressive, resulting in distortion of the extracellular matrix (ECM), inflammation, fibrosis and eventual death.Methods13 patients born to consanguineous parents from two unrelated families presenting with interstitial lung disease were clinically investigated. Nine patients developed respiratory failure and subsequently died. Molecular genetic investigations were performed on patients' whole blood or archived tissues, and cell biological investigations were performed on patient-derived fibroblasts.ResultsThe combination of a unique pattern of early-onset lung fibrosis (at 12–15 years old) with distinctive radiological findings, including 1) traction bronchiectasis, 2) intralobular septal thickening, 3) shrinkage of the secondary pulmonary lobules mainly around the bronchovascular bundles and 4) early type 2 respiratory failure (elevated blood carbon dioxide levels), represents a novel clinical subtype of familial pulmonary fibrosis. Molecular genetic investigation of families revealed a hypomorphic variant in S100A3 and a novel truncating mutation in S100A13, both segregating with the disease in an autosomal recessive manner. Family members that were either heterozygous carriers or wild-type normal for both variants were unaffected. Analysis of patient-derived fibroblasts demonstrated significantly reduced S100A3 and S100A13 expression. Further analysis demonstrated aberrant intracellular calcium homeostasis, mitochondrial dysregulation and differential expression of ECM components.ConclusionOur data demonstrate that digenic inheritance of mutations in S100A3 and S100A13 underlie the pathophysiology of pulmonary fibrosis associated with a significant reduction of both proteins, which suggests a calcium-dependent therapeutic approach for management of the disease.

Idiopathic Pleuro-Parenchymal Fibroelsatosis (PPFE) is a rare, progressive and recently recognized subtype of idiopathic interstitial lung disease with no recorded successful treatment other than lung transplant. We report a case of idiopathic pleuroparenchymal fibroelastosis from the Middle East, managed successfully by bilateral lung transplant performed on a 26 year old Saudi male.

Cancer is a common and potentially deadly disease. Some of the cancers may be difficult to treat by conventional means such as surgery, radiation, and chemotherapy, but may be controlled by the stimulation of the immune response of the body with the help of cancer vaccines. The use of vaccines for preventing infections by oncogenic viruses such as hepatitis B virus and human papilloma virus has been extremely successful in reducing the incidence of cancers resulting from these infections. The use of vaccines for treating cancers that are not due to viral infections and that are already established is currently the object of numerous clinical trials. Several types of cancer vaccines are being tried. These include antigen vaccines, tumor cell vaccines, dendritic vaccines, deoxyribonucleic acid vaccines, and viral vector vaccines. The development of these therapeutic vaccines is proving difficult with only 1 recent success. However, there is significant enthusiasm and optimism regarding the development of effective therapeutic vaccines stemming from the fact that our understanding regarding the cancer immunology is considerably enhanced in recent years. This expanded knowledge regarding the mechanisms that cancers use to escape the immune system is likely to open new avenues in modulating the immune response to cancer, thus enhancing the effectiveness of therapeutic cancer vaccines.

Background Familial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 40 genes have been identified in familial cases, mostly inherited in an autosomal dominant pattern. DCM due to recessive mutations is rarely observed. In consanguineous families, homozygosity mapping and whole exome sequencing (WES) can be utilized to identify the genetic defects in recessively inherited DCM. Methods In a consanguineous family with four affected siblings with severe DCM, we combined homozygosity mapping, linkage analysis and WES, to uncover the genetic defect. Results A region of homozygosity (ROH) on chromosome 8q24.13–24.23 was found to be shared by all of the four affected siblings. WES detected ~47,000 variants that were filtered to a homozygous mutation (p.Gly243Arg) in the FBXO32 gene, located within the identified ROH. The mutation segregated with the phenotype, replaced a highly-conserved amino acid, and was not detected in 1986 ethnically-matched chromosomes. FBXO32, which encodes a muscle-specific ubiquitin ligase, has been implicated in the pathogenesis of cardiomyopathy through the ubiquitin proteasome system (UPS). In addition, FBXO32-knockout mice manifest with cardiomyopathy. Screening the index patient for all of the WES variants in 48 genes known to be implicated in hypertrophic and dilated cardiomyopathy was negative. Conclusions Our data suggest that FBXO32 is a candidate gene for recessive DCM. Acting as a cardiac ubiquitin ligase, mutated FBXO32 could perturb the degradation of target proteins in the UPS, the impairment of which has been observed in cardiomyopathy. Our work proposes that genes encoding other ubiquitin ligases could also be implicated in familial cardiomyopathy. Electronic supplementary material The online version of this article (doi:10.1186/s12881-016-0267-5) contains supplementary material, which is available to authorized users.

Forty-eight OMIM genes implicated in dilated and hypertrophic familial cardiomyopathy that were screened for all the homozygous variants detected by whole exome sequencing. All of the identified 62 variants have been previously reported in the dbSNP and/or 1000 Genomes databases as polymorphisms, except for two novel variants in TNN and SGCD genes, which were found to be intronic. (DOCX 17Â kb)

Familial aortic aneurysm (AA) is mostly inherited as an autosomal dominant disorder. However, recessively inherited AA has also been observed but in association with skin manifestations of cutis laxa, which is caused by a mutated EFEMP2 gene. In the present study, we recruited 9 patients, from 4 unrelated consanguineous families, with recessively inherited AA. The index cases, their parents, and siblings underwent clinical evaluation and cardiac imaging. In the affected subjects, the clinical presentation ranged from sweating and cyanosis at 3 months of age to incidental findings in an asymptomatic adult. The echocardiogram revealed a wide spectrum of severity of the AA, with a Z-score varying from 5 to 33. Intrafamilial variability was also evident; 2 unrelated subjects were detected at 17 and 20 years of age through family screening. The skin manifestations of cutis laxa were not found in any patient. In 1 family, genome-wide single-nucleotide polymorphism analysis detected a homozygous block, shared by 2 affected siblings, on chromosome 11 at q13. Sequence analysis of EFEMP2 , located on chromosome 11 at q13, identified a novel homozygous mutation (p.E161K) in all 9 affected subjects. In this largest cohort of reported patients with a mutated EFEMP2 gene, we illustrate the phenotypic spectrum of inherited AA due to a novel EFEMP2 mutation. In conclusion, our work suggests that in families with apparently recessively inherited AA, molecular analysis of EFEMP2 gene might be warranted.

We describe a case of pulmonary epitheloid hemangioendothelioma (PEH) in a 13 years old girl, the aggressive nature of the tumor in this particular case and the PET CT findings. PEH are rare tumors of vascular origin, first described by Dial and Liebow in 1975. This is an uncommon pulmonary neoplasm, 4 times more common in young women. This tumor can affect multiple organs (lung, liver, bones and soft tissue, skin, heart, central nervous system). However lung and liver represent 2 main locations. Clinical manifestations are variable; typically patients are asymptomatic, and PEH is detected on routine chest radiographs as bilateral small (1 cm or less) nodules in the lungs Diagnosis usually requires a surgical lung biopsy. The prognosis is very unpredictable, with life expectancy ranging from 1 to 15 years. The tumor is usually considered as low to intermediate grade sarcoma. There is no single effective treatment however spontaneous remissions and aggressive behavior has been described.

Aspergillus endocarditis is a rare infection that occurs most commonly in patients with prior cardiac surgery but cases in post-transplant recipients without prior cardiac surgery have been reported. Diagnosis is often delayed and requires high index of suspicion. We here report a case of Aspergillus endocarditis in solid organ transplant recipient.

The metastatic breast cancer to the duodenum is rare in spite of common breast cancer. In this paper, we are reporting a rare case of 50-year-old lady who presented with intestinal obstruction as result of metastatic breast cancer which completely responds to chemotherapy. The tumor presents again as brain metastasis after stop of Herceptin due to cardiac toxicity.

B7-H1 molecule increases the apoptosis of tumorreactive T lymphocytes and reduces their immunogenicity. Breast cancer is the second most common cause of mortality after lung cancer. Direct evidence linking B7-H1 with cancer has been shown in several malignancies; however, its expression in breast cancer has not been investigated. We used immunohistochemistry to investigate the expression of the B7-H1 molecule in 44 breast cancer specimens and to study its correlation with patients' clinicopathological parameters. The expression of B7-H1 was shown in 22 of 44 patients and was not restricted to the tumor epithelium (15 of 44, 34% in tumor cells), but was also expressed by tumor-infiltrating lymphocytes (TIL; 18 of 44, 41%). Interestingly, intratumor expression of B7-H1 was significantly associated with histologic grade IIInegative (P = .012), estrogen receptor-negative (P = .036), and progesterone receptor-negative (P = .040) patients. In addition, the expression of B7-H1 in TIL was associated with large tumor size (P = .042), histologic grade III (P=.015), positivity of Her2/neu status (P=.019), and severe tumor lymphocyte infiltration (P = .001). Taken together, these data suggest that B7-H1 may be an important risk factor in breast cancer patients and may represent a potential immunotherapeutic target using monoclonal antibody against the B7-H1 molecule.

e17541 Background: The prevalence of Nasopharyngeal Carcinoma (NPC) is higher in Saudi Arabia compared to western countries. Genetic susceptibility and/or environmental factors (like infection with Epstein-Barr virus) contribute to the development of this tumor. There is a lack of information on the expression of markers related to the immune response in Saudi NPC patients. Methods: Here we report on profiling of two cohorts of NPC cases from patients treated at King Faisal specialist hospital & Research cneter (KFSH&RC) using the most relevant immune markers. The first cohort included 54 patients with local NPC while the other cohort included 25 cases of metastatic NPC at presentation. Immunostaining was done using Ventana benchmark fully automated system. Two anatomical pathologists (SM & HK) scored the NPC cases for CD3+ infiltrating lymphocytes (TIL), and their sub-fractions co-staining for CD8, FOXP3 and/or PD-1. On the other hand, PDL1 expression was assessed on tumor cells. Statistical analysis was done using JUMP Pro 13 software. Results: There was an induction of membranous PDL1 expression on tumor cells of 70 and 64% in local and metastatic cases respectively. Interestingly, there was a significant number of cases with cytoplasmic expression of PDL1 (46% of local and 36% metastatic cases) in addition to the membranous expression. PD-1 was over-expressed (on ≥ 10% of TIL) in 52% and 68% of local and metastatic cases respectively. FOXP3+ T-cells were abundant in the tumor tissues as 78% of cases had ≥10% of their infiltrating CD3+ T-cells co-staining for nuclear FOXP3. Finally, CD8 were an abundant fraction of total CD3+ infiltrating T-cells in more than 60% and 78% of Local and metastatic cohorts respectively. Correlation of the above studied immune markers with patients clinical outcome shows statistically significant correlation (p = 0.008) between low CD3+ T-cell infiltration in tumor tissues at diagnosis and the relapse of the disease. Conclusions: PDL1 is upregulated, FOXP3+ T-regs are abundant, only the low intensity of CD3+ lymphocytes could predict for higher chances of relapse. These preliminary profiling data provide the basis for future immunotherapy trials for NPC in KFSH&RC

Pancreatic schwannomas are exceedingly uncommon neoplasms. According to a recent study in 2012, less than 50 cases of pancreatic schwannoma have been described in the English literature over the past thirty years. The vast majority of pancreatic schwannomas take place in the head and body of pancreas, respectively. Herein, we report the case of pancreatic tail ancient schwannoma in a 44-year-old man who presented with a 4-month history of epigastric pain. On physical examination, epigastric region was moderately tender to palpation without evidence of a palpable mass. All laboratory tests were normal. Contrast-enhanced computed tomography (CT) scan showed a 9.2 × 9.5 × 11.5 cm, huge, and well-defined left suprarenal mass arising either from adrenal gland, pancreas, or retroperitoneum. The mass demonstrated mild heterogeneous enhancement with central cystic/necrotic area. No evidence of distant metastasis was identified. At laparoscopy, the mass was noticed to originate from pancreatic tail. Patient underwent surgical resection of pancreatic tail. Microscopic and immunohistochemical examination of the pancreatic tail specimen showed ancient schwannoma. Patient received no adjuvant therapy. At a postoperative 6-month followup, patient was completely asymptomatic and CT scan imaging showed no evidence of tumor recurrence. Moreover, a literature review on pancreatic schwannomas is presented.

Germ cell tumors (GCTs) represent a well-recognized group of heterogeneous neoplasms with diverse clinical, histopathological, diagnostic, and prognostic characteristics. We present a rare case of a locally aggressive, chemotherapy-resistant immature mediastinal teratoma with a peculiar histological finding of a multilineage somatic-type malignant degeneration. A 21-year-old male patient presented with a 3-week history of persistent, blood-tinged productive cough and shortness of breath. A contrast-enhanced computed tomography (CT) scan of the chest showed a heterogeneous mass occupying the right hemithorax and abutting on adjacent structures. CT-guided biopsy was consistent with immature teratoma. Combination chemotherapy with bleomycin, etoposide, and cisplatin was initiated, albeit without success; the mass showed interval progression in size, and surgical resection through clamshell incision was performed. Histological assessment of the resected mass confirmed the diagnosis of immature teratoma and revealed an extensive multilineage malignant differentiation into sarcomatous, carcinomatous, and melanomatous components. The patient underwent an uneventful recovery but presented 2 months later with extensive liver and bone melanomatous metastases. In this report, relevant findings from the literature are also highlighted. Despite being exceptionally rare, such tumors carry poor prognosis. Understanding the clinicopathological characteristics and biological behavior of such tumors may provide an insight into interventions tailored to improve the otherwise dismal disease outlook.

Cardiomyopathies are a heterogeneous group of diseases characterized by impaired heart muscle function. Over the last few years, interest in mitochondrial cardiomyopathies has been galvanized by a number of significant molecular biology discoveries. There is overwhelming evidence that genetic factors play a pivotal role in the pathogenesis of primary cardiomyopathies. Mitochondrial cardiomyopathy is a cardiomyopathy in which the clinical and pathological phenotype result from mitochondrial diseases due to pathogenic mutation in both mitochondrial and/or nuclear genes causing defects in the oxidative phosphorylation system (OXPHOS) in cardiac muscle. We review and provide an update of the current concepts, molecular genetics, clinical features, pathology, diagnostic modalities, and latest therapeutic options in mitochondrial cardiomyopathies specifically caused by mutations in the mitochondrial DNA (mtDNA).

Mutational analysis of c-KIT or PDGFRA has become an important laboratory assay for patients with gastrointestinal stromal tumors (GISTs) because the results are useful in predicting the responsiveness to imatinib. To assess the diagnostic usefulness of denaturing high-pressure liquid chromatography (DHPLC) in this setting, we performed DHPLC and DNA sequencing to study exons 9, 11, 13, and 17 of c-KIT and exons 12 and 18 of PDGFRA in 54 consecutive cases of GIST collected from a single population. Most (40/54 [74%]) carried c-KIT mutations, and 7 (13%) carried PDGFRA mutations. These results were similar to those described in the literature. It is important to note that DHPLC was found to be highly sensitive, detecting all of the mutations in these 6 exons that were identified by DNA sequencing. Our data suggest that DHPLC is a cost-effective, rapid, and sensitive test for screening for mutations of c-KIT and PDGFRA in GISTs.