Turkish Journal of Pathology最新文献

Objective: Pediatric skin diseases may show various manifestations, occasionally affecting the patients' quality of life. Histopathological examination may be required for the diagnosis. The aim of this study was to evaluate the spectrum of clinicopathological features in pediatric skin lesions.

Material and method: A total of 368 biopsies of 359 consecutive patients were included. The clinicopathological findings were retrospectively evaluated. Non-neoplastic (inflammatory) lesions (ILs) (n=186) were grouped per their origin, while neoplastic/proliferative lesions (NPLs) (n=182) were grouped based on their pattern. The clinical and histopathological characteristics were statistically analyzed.

Results: 51% were male and the median age was 10.4±4.9 years (range 0-17). ILs mainly involved the head and neck, and NPLs were mostly located in the lower extremity (p < 0.001). The most common NPLs were benign nevus (18%, n=33) and pilomatrixoma (15%, n=27), while the most frequent IL was spongiotic/psoriasiform dermatitis (38%). Skin appendage/connective tissue tumors were the largest among NPLs (p=0.02). NPLs were more frequently seen in children > 12 years old compared to ILs (p=0.03). The discordance rate between clinical and histopathological diagnoses was higher for NPLs (27% vs. 15%).

Conclusion: Although the spectrum of skin lesions is broad in pediatric patients, most are benign in nature. The higher frequency of melanocytic and/or cystic lesions among children > 12 years old may be attributed to increased self-care during puberty. Neoplastic/proliferative lesions of childhood seem to be less commonly recognized by clinicians, and a multidisciplinary approach remains the optimal method, considering the relatively high rate of discordance between the clinical and histopathological diagnoses.

Objective: In a study of Merkel cell carcinoma (MCC), a fusion transcript between MLH1 and SPATA4 was identified. This fusion has the potential to generate the inactive or dominant-negative form of the protein. Therefore, we aimed to investigate whether mismatch repair protein deficiency occurr in MCC cases or not, in addition to the overall survival association with histopathologic features.

Material and method: A retrospective review of 15 patients diagnosed with a biopsy-proven Merkel Cell Carcinoma between 2012 and 2019 was performed. Mismatch repair (MMR) protein expressions were evaluated by immunohistochemistry.

Results: The median follow-up time was 36 months (mean 41, range 2-103 months). Six (40%) patients died during follow-up. The overall survival (OS) at 1 year, 2 years, 3 years, and 5 years were 87%, 80%, 62%, and 53%, respectively. The patients diagnosed at < 60 years had an improved OS compared to those ≥60 years of age (p=0.016). Patients in clinical stage I had better OS than patients in clinical stage IV (p=0.011). Cases with pathological tumor stage (pT) 1 had better OS than pT3 and pT4 (p=0.045). Adjuvant radiotherapy or adjuvant radiotherapy+chemotherapy treatment improved OS compared to adjuvant chemotherapy (p=0.003). MMR protein nuclear expression was intact in 12 cases available for immunohistochemical study.

Conclusion: To the best of our knowledge, this is the second study that preferentially investigated the mismatch repair protein status of Merkel Cell Carcinoma. No mismatch repair protein deficiency of MCC cases was identified in the current study.

Objective: Sarcomatoid carcinomas of the lung are a group of aggressive tumors. It has been reported that losses of SMARCA4 and SMARCA2, which play a role in the repair and remodeling of chromatin, contribute to the initiation, progression, and differentiation of neoplasms. The aim of our study was to examine SMARCA4 and SMARCA2 profiles in sarcomatoid carcinomas of the lung.

Material and method: We screened pleomorphic carcinomas (PCs), carcinosarcomas (CSs), and pulmonary blastomas (PBs). The loss of SMARCA4 and SMARCA2 expression in the tumors was evaluated using immunohistochemical methods. The tumors were also examined to determine immunophenotype, histological tumor diagnosis, surgical resection, tumor histological component, largest tumor diameter, and lymph node metastasis status.

Results: Sixty-nine cases were screened, of which 84% were PCs, 13% were CSs, and 2.8% were PBs. In PCs components, 84.4% were biphasic and 15.5% were monophasic. The PCs showed the most frequent loss of SMARCA4 (25.8%) and SMARCA2 (44.8%). A loss of SMARCA4 and SMARCA2, respectively, was detected in 14.2% and 24.4% in both components of biphasic PCs; 12.2% and 14.2% in the sarcoma component of biphasic PCs; 0% and 8.1% in the carcinoma component of biphasic PCs; 22.2% and 33.3% in monophasic PCs; 0% and 22.2% in both components of CSs; and 0% and 22.2% in the sarcoma component of CSs.

Conclusion: These findings demonstrate a loss of expression of SMARCA4 and SMARCA2 in pulmonary sarcomatoid carcinomas. Loss of the SMARCA complex may be caused by the heterogeneous morphological profile of sarcomatoid carcinomas, independent of tumor histopathological parameters.

Epithelioid hemangioendothelioma is a rare malignant vascular neoplasm caused by the proliferation of neoplastic endothelial cells. Epithelioid hemangioendothelioma may develop in any organ, but it is commonly observed in the extremities. The tongue is a very unusual location for epithelioid hemangioendothelioma. A 55-year-old male patient presented to the outpatient head and neck clinic with lumps in the tongue, pain, and limitation of motion. The polypoid mass detected in the anterior midline of the tongue was excised. Microscopically, the tumor cells included slightly pleomorphic oval or round vesicular nuclei with an eosinophilic cytoplasm that variably contained vacuoles. There were 4 mitoses per 10 high power fields and there was no necrosis. In immunohistochemical study, the tumor cells were positively stained with CD31 and CD34 whereas they were negatively stained with TFE3, SMA, S-100, HHV-8 and EMA. The patient was diagnosed with "epitheloid hemangioendothelioma". Only ten cases have been reported in the tongue in the literature. Our case was the eleventh case, and we aimed to report this case as a rare entity with an unusual location.

Objective: Lung adenocarcinomas are divided into acinar, lepidic, papillary, micropapillary, and solid predominant subtypes according to the current World Health Organization (WHO) classification. We designed this retrospective study to demonstrate profiles of MUC expression (MUC1, MUC2, MUC5AC, and MUC6) of different histologic patterns within the same tumor among pulmonary adenocarcinomas and investigate correlations of MUC expression with clinicopathologic features.

Material and method: We analyzed the expression of mucins (MUC1, MUC2, MUC5AC, and MUC6) in a series of 99 resected lung adenocarcinomas, which included a total of 193 patterns (71 acinar, 30 lepidic, 25 papillary, 20 micropapillary, 34 solid and 13 mucinous) and calculated a final immune reactivity score (FIRS) per tumor.

Results: MUC1 IRS scores were significantly higher in lepidic and solid patterns compared with mucinous patterns (p=0.013). MUC2 expression was seen only in three cases (1 acinar, 2 mucinous). MUC5AC and MUC2 expression was more common in mucinous patterns (p < 0.001 and p=0.028, respectively). MUC6 expression was only detected in seven patterns and the expression was weak. No significant difference was seen among histologic patterns for the staining scores of MUC6. Mucinous adenocarcinoma differed from other histologic subtypes regarding MUC1 and MUC5AC expression. Mucinous adenocarcinoma showed less MUC1 expression with lower IRS scores and higher MUC5AC expression. Tumor size (p=0.006), lymphatic invasion (p=0.018), vascular invasion (p=0.025), perineural invasion (p=0.019), MUC1 IRS scores (p=0.018), and MUC1 IRS scores > 8.5 (p=0.018) were significant predictors for lymph node metastasis.

Conclusion: An alternative scoring for MUC1 can be used as a predictor for lymph node metastasis regardless of the histologic subtype.

Several types of cutaneous tumors can show palisading features or the so-called rippled pattern. The list includes adnexal tumors such as trichoblastoma and sebaceoma, basal cell carcinoma, leiomyoma, perineuroma, myofibroblastoma, and even malignant melanoma. Dermatofibroma, which is known for having a large variety of histological patterns, is also in the list. Here we present a case of dermatofibroma with palisading features strikingly similar to Verocay bodies of schwannoma.

Objective: IDH wild-type glioblastomas (GBM) are one of the most malignant and complex tumors for treatment. The urgent question of new therapeutic and diagnostic tools searching should be resolved based on cellular and molecular pathogenesis mechanisms, which remain insufficiently studied. In this study, we aimed to investigate GBM pathogenesis.

Material and method: /b > Using the isolation of different GBM cell populations and the cell cultures, animal models, and molecular genetic methods, we tried to clarify the picture of GBM pathogenesis by constructing a projection from different glioma stem cells types to an integral neoplasm.

Results: We have shown a potential transformation pathway for both glioma stem cells and four definitive cell populations during gliomagenesis. Moreover, we have characterized each population, taking into account its place in the pathogenetic continuum, with a description of the most fundamental molecular and functional properties.

Conclusion: Finally, we have formed a complex holistic concept of the pathogenetic evolution of GBM at the cell-population level by integrating our results with the data of the world literature.

A perivascular epithelioid cell tumor (PEComa) is an uncommon mesenchymal tumor composed of perivascular epithelioid cells. These tumor cells show variable immunoreactivity for both melanocytic and myogenic markers. Occurrence of PEComa has been reported at various anatomical sites, including the gynecological tract, uterus being the most common. Although most patients have sporadic PEComas, a subset may be associated with the inactivation of TSC1 or TSC2 genes and the occurrence of TFE3 gene fusions. However, a relationship between PEComas and other tumors is rare. We report a 41-year-old female patient with malignant PEComa who was admitted to the hospital with a complaint of vaginal bleeding. Because she had previously been diagnosed with colorectal and breast carcinomas at an early age, we performed a comprehensive genetic analysis to identify molecular alterations present in her background that unveiled multiple malignancy predispositions. Next-generation sequencing (NGS) analysis revealed two heterozygous germline pathogenic variants in the ATM and TP53 genes and a heterozygous variant of unknown significance (VUS) in the BRCA2 gene. The patient was diagnosed with the Li-Fraumeni Syndrome owing to the medical and family history and also the presentation of a pathogenic mutation of the TP53 gene. There are very few case reports in the literature describing PEComa in the Li-Fraumeni syndrome, and this is the first report of a uterine PEComa in a patient with Li-Fraumeni syndrome.