Expanding the Spectrum of the Soft Tissue Tumors with Kinase Gene Fusions: A Pediatric Spindle Cell Neoplasm Harboring MTAP-RAF1 Fusion.

Introduction: NTRK-rearranged spindled cell tumors have been increasingly recognized with the widespread use of molecular studies. We describe a pediatric spindle cell neoplasm with MTAP-RAF1 gene fusion that fits into this group. Case report: An 8-year-old girl presented with mandibular mass. Histopathologically, it was a moderate to increased cellular spindle cell tumor with mild-to-moderate nuclear pleomorphism, focal perivascular keloid-like collagen, that was positive for S-100 and CD34. MTAP-RAF1 fusion was detected by next generation sequencing, confirming a low-grade sarcoma with MTAP-RAF1 fusion that is presently included in the category of NTRK-rearranged spindled cell tumors. Discussion: MTAP-RAF1 fusion, in the spectrum of spindle cell neoplasms with kinase gene rearrangements, can occur in the pediatric age group.

A Rare Cause of Dysphagia: Giant Lipoma in Parapharyngeal Space.

BACKGROUND: Parapharyngeal area is one of the most complex areas of head and neck anatomy. Tumors of the parapharyngeal region are very rare among head and neck tumors. Lipomas also constitute a tiny proportion of parapharyngeal tumors so parapharyngeal area lipomas are very rare in the literature. Due to anatomical location, these tumors treatment is challenging. CLINICAL REPORT: A 20-year-old male patient admitted to our department with complaints of swallowing difficulty and a mass on the right side of the neck. Magnetic resonance imaging was performed, and it was reported as a 6 × 4.5 cm lipoma. He underwent excision of parapharyngeal area lipoma by a transoral approach. CONCLUSION: Parapharyngeal lipomas are very rare, and difficult to diagnose before they turn out symptomatic. The primary treatment approach in tumors of the parapharyngeal area is surgery and the surgical approach should be chosen according to the anatomical location of the lesion.

Anxiety and depression predict quality of life in Turkish patients with systemic lupus erythematosus.

OBJECTIVES: The aim of our study was to evaluate quality of life (QoL) in patients with systemic lupus erythematosus (SLE) and assess the impact of disease activity and psychological distress on health-related quality of life (HRQoL) in Turkey. METHODS: The Medical Outcomes Study Short Form (SF) -36 was used in a cohort of 113 consecutive patients with SLE and 123 age- and gender-matched healthy subjects to measure HRQoL. Patients' disease activity was assessed with SLE disease activity index (SLEDAI) and psychological distress was evaluated by the Hospital Anxiety and Depression Scale (HADS) for all participants. Patients' demographic and clinical data were recorded at the time of HRQoL and HADS testing. Multiple logistic regression analysis was performed to explore the relationships between demographics, disease duration, disease activity as well as psychological (anxiety and depression) variables and the HRQoL. RESULTS: SLE patients have lower quality of life than healthy controls. No relationship between HRQoL and SLE activity or disease duration were observed. Patients with anxiety and/or depression reported worse SF-36 scores than those without psychological distress. The results of multivariate analysis suggested that HADS-A, HADS-D scores and working status were associated with the impairment of HRQoL. CONCLUSIONS: HRQoL is impaired in patients with SLE and is associated with mood disorders. Physicians should pay close attention to detect anxiety and depression and manage them in order to improve the quality of life in patients with SLE.

Clinicopathological Correlates of PIT1 and SF1-Multilineage Pituitary Neuroendocrine Tumors and the Diagnostic Utility of NKX2.2 Immunohistochemistry in Pituitary Pathology.

CONTEXT.­: PIT1 and SF1-multilineage pituitary neuroendocrine tumors (PitNETs) have been defined since the classification of adenohypophysial tumors based on the PIT1, SF1, and TPIT transcription factors. OBJECTIVE.­: To describe the clinicopathologic features of PIT1 and SF1-multilineage PitNETs and to contribute to the pituitary pathology practice by questioning the expression of NKX2.2 in PitNETs. DESIGN.­: We reviewed 345 PitNETs and described the clinicopathologic features of 8 PIT1 and SF1-multilineage tumors. NKX2.2 positivity and staining pattern were compared to those of 45 PitNETs from the control group. RESULTS.­: PIT1 and SF1-multilineage PitNET patients had a mean age of 41.13 (range, 14-58 years) and a mean diameter of 14.0 mm (range, 8-20 mm). The most common clinical presentation was acromegaly (6 of 8), and postoperative remission was achieved in all patients. On histomorphologic examination, a pseudopapillary pattern was seen in 5 of the tumors, either focally or diffusely. In addition to PIT1 and SF1, there was a diffuse staining with growth hormone and a predominantly perinuclear staining with cytokeratin 18. With NKX2.2, all multilineage tumors were positive, of which 5 were diffuse and 3 were focal. In the control group, 8 tumors (8 of 45) were positive, of which only 1 was diffuse and 7 were focal. CONCLUSIONS.­: In conclusion, NKX2.2 is a transcription factor that can be used as an additional tool in pituitary pathology, and PIT1 and SF1-multilineage PitNETs are specific tumors that usually present with acromegaly, show signs of a nonaggressive clinical course, have a pseudopapillary histomorphology, and express NKX2.2.

Distinguishing Pituitary Metastasis and Pituitary Neuroendocrine Tumors through Conventional MR Imaging and Clinical Features.

BACKGROUND AND PURPOSE: Given their overlapping features, pituitary metastases frequently imitate pituitary neuroendocrine tumors in neuroimaging studies. This study aimed to distinguish pituitary metastases from pituitary neuroendocrine tumors on the basis of conventional MR imaging and clinical features as a practical approach. MATERIALS AND METHODS: In this 2-center retrospective study, backward from January 2024, preoperative pituitary MR imaging examinations of 22 pituitary metastases and 74 pituitary neuroendocrine tumors were analyzed. Exclusion criteria were as follows: absence of a definitive histopathologic diagnosis, history of pituitary surgery or radiation therapy before MR imaging, and pituitary neuroendocrine tumors treated with medical therapy. Two radiologists systematically evaluated 13 conventional MR imaging features that have been reported more commonly as indicative of pituitary metastases and pituitary neuroendocrine tumors in the literature. Age, sex, history of cancer, and maximum tumor size constituted the clinical/epidemiologic features. The primary cancer origin for this study was also noted. Univariable and multivariable logistic regression was used for the selection of variables, determining independent predictors, and modeling. Interobserver agreement was evaluated for all imaging parameters using the Cohen κ statistic or intraclass correlation coefficient. RESULTS: A total of 22 patients with pituitary metastases (8 women; mean age, 49.5 [SD, 13] years) and 74 patients with pituitary neuroendocrine tumors (36 women; mean age, 50.1 [SD, 11] years) were enrolled. There was no statistically significant distributional difference in age, sex, or maximum tumor size between the 2 groups. Lung cancer (9/22; 41%) was the most commonly reported primary tumor, followed by breast (3/22; 13.6%) and unknown cancer (3/22; 13.6%). Logistic regression revealed 3 independent predictors: rapid growth on control MR imaging, masslike or nodular expansion of the pituitary stalk, and a history of cancer. The model based on these 3 features achieved an area under the curve, accuracy, sensitivity, specificity, and Brier score of 0.987 (95% CI, 0.964-1), 97.9% (95% CI, 92.7%-99.8%), 95.5% (95% CI, 77.2%-99.9%), 98.6% (95% CI, 92.7%-100%), and 0.025, respectively. CONCLUSIONS: Two conventional features based on pituitary MR imaging with the clinical variable of history of cancer had satisfying predictive performance, making them potential discriminators between pituitary metastases and pituitary neuroendocrine tumors. In cases in which differentiation between pituitary metastases and pituitary neuroendocrine tumors poses a challenge, the results of this study may help with the diagnosis.

Diagnostic Significance of Ki67 Staining Pattern in Benign Peripheral Nerve Sheath Tumors: An Additional Diagnostic Tool.

Introduction. Benign peripheral nerve sheath tumors involve mainly neurofibromas, schwannomas, and their variants. Ki67 is a widely used immunohistochemical marker that predicts the proliferation rate of tumors including the nerve sheath-derived neoplasms and it is helpful to differentiate them from their malignant counterparts. However, Ki67 score is not used in distinction of the benign peripheral nerve sheath tumors types from each other. Our aim is to contribute to the literature by identifying the hypothesized specific Ki67 staining patterns of benign peripheral nerve sheath tumors. Methods. Fifty-three tumors (distributed as follows: 26 schwannomas, 24 neurofibromas, and 3 hybrid schwannoma-neurofibroma tumors) from 49 patients were included in the study. Two researchers analyzed the slides independently. Tumors were classified according to their Ki67 staining patterns in 3 different groups: zonal (Z-Ki67), focal zonal or mixed (M-Ki67), and scattered Ki67 (S-Ki67). Results. There was a significant correlation among the types of benign peripheral nerve sheath tumor and the Ki67 staining patterns (P < .01). Level of inter-rater reliability was calculated as good (>0.7) and excellent (>0.8) according to 2 different calculations of kappa score. Conclusions. In conclusion, our study demonstrates that the Ki67 staining pattern may be used as an additional diagnostic tool in the diagnosis of benign peripheral nerve sheath tumors.

A Rare Cause of Dysphagia: A Giant Ganglioneuroma in Parapharyngeal Space.

Parafarengeal ganglioneuroma is a very rare benign tumor originating from the sympathetic nervous system that produces mass and functional effects. Ganglioneuroma is most commonly caused by the posterior mediastinal, retroperitoneal area and adrenal glands. Generally, they do not present any additional signs or symptoms other than mass. Horner's syndrome may sometimes occur due to the compression of the sympathetic chain. A 41-year-old male patient with a long-standing mass in the lateral compartment of the left neck was admitted to our clinic. The patient was operated, and the pathological result of the mass was reported as ganglioneuroma. We present a rare case of ganglioneuroma in paraphryngeal space by reviewing the current literature.

Comparison of Monitor-Image and Printout-Image Methods in Ki-67 Scoring of Gastroenteropancreatic Neuroendocrine Tumors.

Gastroenteropancreatic neuroendocrine tumors (GEP-NET) are classified according to tumor grade. Ki-67 and mitotic count are the two determinants of this classification. Therefore, Ki-67 scoring becomes very important in classifying the patients accurately. Eye-balling, counting of cells through the microscope, automated image analysis systems, and manual counting of printed image are the four major scoring methods in use. The aim of this study is to show the agreement between monitor-image method (MIM) and printout-image method (PIM) of Ki-67 scoring. In our study, 120 GEP-NETs from 85 patients diagnosed between January 2005 and July 2017 were evaluated. Thirty-seven cases with either polypectomy or resection material were selected. Seven different scoring methods using either a monitor-image or a printout-image were applied for Ki-67 scoring. They are as follows: whole-PIM, 1/9-PIM, whole-MIM, 1/4-MIM, 1/6-MIM, 1/9-MIM, and 1/12-MIM. In the comparison of Ki-67 scoring methods, intraclass correlation coefficients ranging from 0.951 to 0.999 were found. The Bland-Altman analysis showed near-perfect agreement between whole-MIM and whole-PIM as well as 1/9-MIM and 1/9-PIM. The level of agreements among the other methods were sufficient too, but there was a relative decrease in the level of agreement as the area of counting becomes smaller. The average application time decreased from 373.7 to 41.7 s gradually as the scoring area becomes smaller. Our study shows that there is a remarkable agreement between the MIM and PIM used in Ki-67 scoring.

Correlation between the Expression of PD-L1 and Clinicopathological Parameters in Triple Negative Breast Cancer Patients.

OBJECTIVE: Triple-negative breast cancer (TNBC) is a heterogenous group of tumors with no estrogen receptor (ER), progesterone receptor (PR) and Cerb-B2/HER2 expression. Programmed death ligand-1 (PD-L1) is a transmembrane protein located on both non-tumor and tumor cells and it has been shown to be associated with the escape of tumor cells from the immune system. PD-L1-targeted therapy alone or in combination is now an alternative strategy in several aggressive tumor types. In this respect, TNBC is a potential candidate having limited treatment options and poor outcome. MATERIAL AND METHODS: Sixty-one breast cancers with no expression of ER, PR and Cerb-B2/HER2 were chosen to study PD-L1 immunohistochemistry. PD-L1 staining and its correlation with main clinicopathological parameters were evaluated. RESULTS: The percentage of PD-L1 positivity was 37.7% and 47.5% in tumor and tumor microenvironment, respectively. The positivity rate was higher in breast carcinomas with medullary features (83.3%) and metaplastic carcinoma (66.6%) subgroups. PD-L1 expression of tumors was positively correlated with their Ki-67 score and PD-L1 positivity of the tumor microenvironment. No significant relationship was found between the other variables. CONCLUSION: PD-L1 expression rate was remarkable both in the tumor and the tumor microenvironment of TNBCs. Larger cohorts of TNBC are required to further describe their PD-L1 expression characteristics and help standardize PD-L1 immunohistochemistry assays in these tumors.

Primary Pure Uterine Lipoma: A Report of two Cases and Review of the Literature.

Pure uterine lipomas are rare diagnoses despite lipoma being a common entity. The histogenesis of these lesions remains unknown, and its clinical symptoms are similar to those of uterine leiomyomas. In this report, two cases of uterine lipomas were presented with their histopathological and clinical aspects.

Nonneoplastic Lesions of the Pancreas: A Retrospective Analysis of 20 Cases.

OBJECTIVES: In the pancreatic lesion cases, surgery is often planned based only on imaging results and without a preoperative histological diagnosis, due to the high risk of malignancy in combination with the difficulty of invasive interventions and limited cytopathological evaluation. In this study, the records of 20 patients who had undergone a pancreatectomy procedure and who were diagnosed with nonneoplastic pancreatic lesions were retrospectively evaluated according to the clinical and histopathological findings. METHODS: A total of 122 cases of patients who underwent a pancreatectomy with suspicious lesions between 2004 and 2016 were retrospectively assessed in detail using the clinical and histopathological findings. RESULTS: Nonneoplastic lesions were observed in 20 (16%) of 122 patients who underwent a pancreatectomy. Histopathological examination revealed 11 cases of chronic pancreatitis, 1 hematoma, 1 instance of hemorrhagic necrosis secondary to trauma, 1 pseudocyst, 1 granulation tissue, 1 retention cyst, 1 bile duct cyst, 1 patient with Castleman disease, and 1 instance of fat necrosis were seen. In 1 patient, no evidence of disease was found. In addition, among the patients with chronic pancreatitis, autoimmune pancreatitis was observed in 1, adenomyoma of the ampulla of Vater was present in 1, and a pseudocyst was found in 1 patient. CONCLUSION: A clinical and histopathological analysis of nonneoplastic lesions found in pancreatectomy patients was performed.

Health-related quality of life assessed by LupusQoL questionnaire and SF-36 in Turkish patients with systemic lupus erythematosus.

The LupusQoL is a disease-specific health-related quality of life (HRQoL) measure for patients with lupus. We conducted this study to compare the efficiency of LupusQoL-TR (validated Turkish version of the LupusQoL questionnaire) with the 36-item Short-Form Health Survey (SF-36), a generic quality of life (QoL) scale, in Turkish patients with lupus. Both questionnaires were conducted at a single visit to the clinic. Disease activity was measured with the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI). Associations between the LupusQoL-TR and SF-36 domains were examined while also examining age, disease duration, and disease activity for each questionnaire. Descriptive statistics, Spearman's correlation coefficients, and Students t test were performed to analyze the data. A total of 113 consecutive patients with lupus (F/M 108:5, mean age 40.6 ± 11.9 years, mean disease duration 8.5 ± 7.0 years) were included, and 69 % of these were active. The median SLEDAI score was 2 (0-24), the mean global LupusQoL-TR score was 60.9 ± 23.3, and the mean SF-36 score was 41.2 ± 9.0. There was a significant correlation between LupusQoL-TR and SF-36 mean scores (r = 0.83; p < 0.001). QoL assessed by LupusQoL-TR and SF-36 did not correlate with disease activity (r = -0.11; p = 0.244 and r = -0.03; p = 0.721, respectively). LupusQoL-TR and SF-36 questionnaires were beneficial instruments in evaluating HRQoL in Turkish lupus patients. However, LupusQoL-TR and SF-36 were not associated with SLEDAI scores, which suggested that QoL might be affected by other factors besides disease activity, especially in clinically inactive or mildly active patients.

[Retrobulbar Hydatid Cyst: A Case Report]. / Retrobulber Bölgede Kist Hidatik: Olgu Sunumu

Hydatid cyst is an infectious disease caused by Echinococcus granulosus, transmitted by dogs and encountered mostly in liver and lungs. As the central nervous system involvement is considered, retrobulbar disease is seen pretty rarely. In this subject; a patient complaining from an impaired vision diagnosed as hydatid cyst disease via radiological imagings and histopathological findings.