Evaluation of New Generation Sequencing (NGS)-Based Somatic Gene Variations and Real-Time Polymerase Chain Reaction (PCR)-Based Gene Fusions in Elderly and Young Acute Leukemia Patients: A Retrospective View.

Malignant diseases occurring in elderly patients follow a different course from younger patients and show different genetic structures. Therefore, in this retrospective study, the somatic gene variant profile and fusion gene profiles of elderly and young acute leukemia patients were determined to draw attention to the existing genetic difference, and the results were compared. In this study, the records of 204 acute leukemia patients aged 18+ who were referred to the Molecular Pathology Laboratory from the Hematology Clinic between 2018 and 2022 were reviewed retrospectively. Fusion gene detection in patients was performed with the HemaVision®-28Q Panel. The NGS Myeloid Neoplasms Panel was conducted using the MiniSEQ NGS platform according to the manufacturer's protocol. When all cases are evaluated together, the most frequently diagnosed acute leukemia is acute myeloid leukemia (85.8%). Both groups had a similar fusion gene profile; however, the fusion burden was higher in the elderly group. When the groups were evaluated in terms of somatic gene variations, there were differences between the groups, and the variation load was higher in the elderly group. Considering the different somatic gene variation profiles, it is understood that the genetic structure of tumor cells is different in elderly patients compared to young cases.

The evaluation of gene mutation profiles by next-generation sequencing in diffuse large B-cell lymphoma.

OBJECTIVE: Diffuse large B cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma. Although it is a clinically and biologically heterogeneous disease, it is usually treated with R-CHOP chemotherapy. Here, we aimed to investigate gene expression frequency with next-generation sequencing (NGS) and the relation of gene mutations with remission and relapse status in patients with DLBCLs. MATERIALS AND METHODS: We investigated gene mutation profiles by NGS in patients with DLBCL-NOS and analyzed the correlation between gene mutations and response and relapse rates and other clinical indices. RESULTS: Twenty-eight of forty patients were evaluated. The most commonly mutated genes were ANKRD, BRCA1, BRCA2, EZH2, KMTC2, MYC, MYD88, NF1, NOTCH1, PMS2, PTEN, and WRN. The relapse rate was found higher in DLBCL patients with ANKRD26, BRCA2, MYD88, and NOTCH1 mutations. Also, remission duration was found shorter in patients with ANKRD26, BRCA2, and MYD88 mutations. CONCLUSIONS: Our study demonstrates that the presence of some genetic mutations is effective on prognosis in patients with DLBCL. NGS-based evaluation of DLBCL treatment can be used in the future.

Laryngeal Tuberculosis Mimicking Laryngeal Carcinoma on 18F-FDG PET/CT Imaging.

Laryngeal tuberculosis is a rare presentation of tuberculosis. It can mimic laryngeal carcinoma with its clinical and imaging findings. A 51-year old woman underwent 18F-fluorodeoxyglucose positron emission tomography/computed tomography (PET/CT) imaging for clinically suspected carcinoma of the larynx. PET/CT revealed lung lesions consistent with tuberculosis in additional to hypermetabolic focus on larynx. The patient was histopathologically diagnosed with lung and laryngeal tuberculosis.

Pathological rupture of the normal spleen: Review with the literature.

INTRODUCTION: Atraumatic spontaneous rupture of the spleen is an uncommon but fatal condition that may coexist with other disease. Our case was presented with obvious CT findings of a spontaneous rupture of the spleen. PRESENTATION OF THE CASE: A 75-year-old woman admitted to the emergency service with abdominal pain. Although there was no evident splenomegaly in the abdominal CT examination, the patient was diagnosed with diffuse large B-cell lymphoma, and densities in harmony with the free air were detected in the spleen and the abdomen. DISCUSSION: It is clear that a healthy spleen does not rupture without marked trauma; hence, a doctor must carefully investigate the underlying pathology. Splenomegaly, the infiltration of the spleen and the capsule and consequently a splenic infarct and hemorrhage were set forth as the causes of the rupture of the spleen in lymphomas. However, our case had no splenomegaly or splenic involvement of lymphoma in the pathological examination. Even in the absence of splenomegaly, rupture may develop for such reasons as inflammation and embolism. Splenic infarcts are also in the developmental mechanism. CONCLUSION: Although atraumatic rupture of the spleen is not prevalent, it is a case which must be considered in an acute abdominal pain as it has highly fatal outcomes without CT exam.

Plasmacytoid dendritic cell tumor: A case report.

A 62-year-old man presented with a painless eruption on his arms and trunk. Physical examination showed 2 well-demarcated erythematous plaques on the anterior trunk and 6 purple-red papules on the back and upper extremities. Blood chemistry and computed tomography results were normal. Herein we describe a patient with plasmacytoid dendritic cell neoplasm in the absence of systemic symptoms.

Human papillomavirus in rare unilateral benign intranasal tumours.

BACKGROUND: Inverted papilloma (IP), oncocytic papilloma (OP), respiratory epithelial adenomatoid hamartoma (REAH) and capillary hemangioma (CH) are benign and rare tumours. OP and IP are associated with squamous cell carcinoma (SCC). Human papillomavirus (HPV) may play a role in malignant transformation. AIM: We aimed to investigate the presence of HPV, inflammation, epithelial dysplasia, and prognostic markers including proliferative cell nuclear antigen (PCNA), epidermal growth fac- tor receptor (EGFR) and p53 in tissue specimens from rare unilateral intranasal benign tumours. METHODS: Presence of HPV DNA was detected by PCR. Proliferative cell nuclear antigen, EGFR, p53 expression and the presence of HPV type 16 in tissues were determined by immuno-histochemical analysis. RESULTS: We determined the presence of HPV DNA in 2 of 6 IP cases, in one CH patient and one OP patient, but the REAH patient was negative. Histologically, only one specimen with IP was positive for HPV type 16 being the high risk type. The remaining cases were considered as low risk type HPV. CONCLUSION: Although our patient numbers are limited, there is a significant association between IP and HPV. This is the first study showing the cooccurrence of CH and OP with HPV.

Nature of cell kinetics in psoriatic epidermis.

BACKGROUND: Psoriasis vulgaris is a common chronic inflammatory dermatosis. Disorders in keratinocyte proliferation, differentiation, inflammation and immune dysregulation are the major factors implicated in the pathogenesis of psoriasis vulgaris. METHODS: The study was performed in skin specimens of 25 patients with psoriasis vulgaris and a control group of 10 individuals without a skin disease. Biopsy specimens from lesional and normal skin were analyzed by immunohistochemical method for expressions of Ki-67, Bcl-2, terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick-end labeling (TUNEL), tumor necrosis factor alpha (TNF-alpha) and nuclear factor kappa B (NF-kappaB). In addition, densities of mast cell infiltration were also investigated. RESULTS: Ki-67 and TUNEL indexes and TNF-alpha and NF-kappaB expressions were significantly higher in psoriatic epidermis than in normal epidermis (p < 0.05). There was no significant difference at Bcl-2 reactivity between the normal and the psoriatic epidermis (p > 0.05); however, Bcl-2 staining intensity of lymphocytes was higher in psoriatic lesions than in normal dermis (p < 0.05). Additionally, the number of mast cells was significantly higher in psoriatic dermis than in normal skin (p < 0.05). CONCLUSIONS: There were several complex factors involved in the pathogenesis of psoriasis. We conclude that cellular damage and apoptosis temporarily coincide with epidermal proliferation during the course of psoriatic hyperplasia.

Expression of NF-kappaB in Helicobacter pylori infection.

Helicobacter pylori colonizes the gastric mucosa in humans and causes chronic gastritis. NF-kappaB has a key role as a mediator in mucosal inflammation. In this study, we examined the expression of NF-kappaB in the antral epithelial cells of H. pylori-infected and H. pylori-uninfected biopsies and examined these processes in relationship with grade and activity of gastritis, density of H. pylori, presence of the intestinal metaplasia, and atrophy. Fifty biopsies (35 H. pylori-positive patients and 15 H. pylori-negative controls) were studied. NF-kappaB immunohistochemical stain was performed. NF-kappaB activity in H. pylori-infected biopsies were markedly enhanced compared with uninflamed biopsies (P = 0.001). We also found positive correlation NF-kappaB expression with severity of gastritis (according to Sydney score) (P = 0.001), activity of gastritis (P = 0.046) and H. pylori load (P < 0.001), and atrophy (P = 0.004). We did not find a significant relationship between NF-kappaB and the presence of intestinal metaplasia (P = 0.355). These findings suggested that expression of NF-kappaB has an important role in H. pylori gastritis.

Does the EGFR and VEGF expression predict the prognosis in colon cancer?

BACKGROUND/AIM: Epidermal growth factor receptor (EGFR) and vascular endothelial growth factor (VEGF) are frequently encountered with aggressive tumor phenotype and poor prognosis, but the relationship between EGFR/VEGF expression and survival remains unclear. The aim of our study was to further investigate the prognostic value of EGFR and VEGF expression in colon cancer. MATERIALS AND METHODS: The pathological specimens of 60 colon carcinoma patients were retrospectively evaluated and grouped according to EGFR and VEGF staining intensity and percentage of stained neoplastic cells. A final score was assigned to each case by multiplying percentage and staining score. The patients were stratified into the following categories: negative (score 0), low expression (score 1 or 2), and high expression (score 4). The remaining patient data were filtered out from the institutional cancer database. RESULTS: The mean survival time was 28.93 +/- 14.1 (range 2-52) months in the EGFR-negative group, 23.92 +/- 14.0 (range 6-46) months in the group with a low EGFR expression, and 17.00 +/- 12.8 (range 10-40) months in the group with a high EGFR expression. The median survival time was 27.50 +/- 14.7 (range 4-52) months in the VEGF-negative group, 29.33 +/- 12.8 (range 6-48) months in the group with a low VGEF expression, and 14.50 +/- 14.2 (range 2-40) months in the group with a high VGEF expression. The expression of EGFR and VEGF was not an independent factor that affects survival. CONCLUSIONS: The EGFR and VEGF expression rates of colon tumors do not predict the survival. In addition, the EGFR expression in the primary tumor was not predictive of metastatic lymph nodes. The prognostic value of EGFR/VEGF staining may be further questioned.