Gene-level dissection of chromosome 3q locus amplification in squamous cell carcinoma of the lung using the nCounter assay.

BACKGROUND: Amplification of the 3q region has been identified as a useful biomarker for the diagnosis and treatment of squamous cell carcinoma (SqCC). This region contains genes such as PIK3CA and YEATS2, which have been linked to the prognosis of SqCC. METHODS: The NanoString nCounter assay is a powerful tool for identifying genetic alterations that affect the progression and prognosis of SqCC. The NanoString nCounter assay was used to identify a subgroup of patients with gene level gain in the 3q region. RESULTS: Gene level gain in the 3q region was more frequent in SqCC than in adenocarcinoma. We found that genes such as PIK3CA and YEATS2 in the 3q region were associated with the prognosis of SqCC. Therefore, identifying a subgroup of patients with gene level gain in the 3q region using the NanoString nCounter assay can aid in selecting appropriate treatment options and improving prognostic predictions for SqCC patients. CONCLUSION: Amplification of the 3q region in SqCC of lung cancer is a useful biomarker for diagnosis and treatment. The NanoString nCounter assay is a powerful tool for identifying specific genetic alterations that affect the progression and prognosis of SqCC. Our study highlights the importance 3q amplification and its associated genes in lung cancer.

Clinicopathological and molecular genetic characteristics of primary gastric follicular lymphoma.

Primary gastric follicular lymphomas (FLs) have been rarely reported, and little is known about their characteristics. In the present study, we report 5 cases of primary gastric FL and describe their clinicopathological and molecular genetic features. A total of 7 samples from 5 patients were investigated for clinicopathological characteristics and somatic mutations by the targeted sequencing of 50 lymphoma-related genes. Two cases were identified as slightly elevated submucosal tumors and 3 cases as polypoid tumors. Histologically, all cases were low-grade FLs. The immunoprofile was CD20+/CD10+/BCL2+ in 4 cases and CD20+/CD10+/BCL2- in 1 case. The immunostaining pattern for CD21 was similar to that of classic FL. BCL2 rearrangement was not identified in fluorescence in situ hybridization studies in any of the 5 cases. Next-generation sequencing analysis showed mutations in genes involved in epigenetic modifications (KMT2D, ARID1A, EP300, and CREBBP), NK-kB pathway (CARD11), and JAK-STAT pathway as found in classic FL. All cases presented with clinical I without the involvement of regional or systemic lymph nodes. Four patients were well, whereas 1 patient who received endoscopic mucosal resection of tumor without additional chemotherapy or radiotherapy experienced 3 relapses. In conclusion, primary gastric FL is characterized by a low-grade neoplasm with infrequent BCL2 rearrangement. After resection of the lesion, additional treatment such as radiation therapy or chemotherapy is required as there is a possibility of recurrence.

Extraskeletal Osteochondroma in the Posterior Neck of a Middle-Aged Female: A Case Report.

Extraskeletal osteochondroma, a variant of chondroma, typically arises in the para-articular location of hands and feet. It is a rare disease and is particularly uncommon when joint components are not involved or localized away from joints. Herein, we report a case of extraskeletal osteochondroma in the posterior neck of a 66-year-old female. The characteristic radiologic finding of our case is presented, along with the typical findings of the disease and review of related literature reports.

Epidemiological characteristics and importance of lobulation of giant epidermal cysts: An 18-year retrospective review of 19 cases.

Giant epidermal cysts, which have a diameter of ≥5 cm, have rarely been reported. Giant epidermal cysts that have multiple lobules are referred to as multilocular giant epidermal cysts. This study aims to establish the epidemiological characteristics and statistically determine the significance of lobulation in giant epidermal cysts. Data on 19 patients who developed giant epidermal cysts between January 2003 and February 2021 were retrospectively reviewed. Patients were divided into 2 groups based on the presence of septa and the differences in characteristics were analyzed. Among the 19 patients, 16 (84.2%) were male, and the mean age was 57.7 ±â€…10.6 years. The mean patient-reported tumor duration was 14.8 ±â€…12.5 years. Seven (36.8%) patients had multilocular giant epidermal cysts, whereas 12 (63.2%) had unilocular giant epidermal cysts. Compared with unilocular giant epidermal cysts, multilocular giant epidermal cysts had a significantly larger mean diameter (6.0 ±â€…0.7 vs 8.2 ±â€…1.8 cm, P = .02) and estimated volume (91.8 ±â€…43.3 vs 250.0 ±â€…157.0 mL, P = .02). Giant epidermal cysts have distinctive epidemiologic characteristics with predominance among males, those in their 50s, and a long tumor duration. Multilocular giant epidermal cysts are significantly larger in diameter and volume than unilocular ones.

A systematic study on phenotypical characteristics of invasive breast carcinoma and surrounding ductal carcinoma in situ in multifocal breast cancers.

Multifocal breast cancers are heterogeneous in terms of histologic characteristics and molecular types. In this study, we annotated multiple foci of invasive lesions and ductal carcinoma in situ lesions of 17 cases of multifocal breast cancer and investigated their immunohistochemical phenotypes (estrogen receptor [ER], progesterone receptor [PR], human epidermal growth factor 2 [HER2], and Ki-67 proliferative index). Tumor histologic grade, proliferative index, and phenotypes were varied within each patient. We observed that there were some cases in which the treatment consideration could be changed due to different phenotypes of lesions. The proliferative index tended to be higher in areas where the histologic grade was higher. The triple-negative (TN) type had the highest Ki-67 index, followed by luminal B/HER2-, HER2, luminal B/HER2+, and luminal A types sequentially. As the luminal B lesions comprised a considerable portion of multifocal cancer, we subcategorized them according to several criteria. The proliferation index of the luminal B group was significantly (P < .001) higher in the low hormone receptor (HR) group than in the HR group. When compared by the phenotypes of the surrounding lesions, the proliferative index of luminal B lesions were intimately related to the coexisting phenotypes. In conclusion, the immunohistochemical phenotypes of multifocal breast cancer are heterogeneous, and luminal B type is the commonest of the heterogeneous phenotypes.

Automated immunohistochemical assessment ability to evaluate estrogen and progesterone receptor status compared with quantitative reverse transcription-polymerase chain reaction in breast carcinoma patients.

BACKGROUND: This study aimed to investigate the capability of an automated immunohistochemical (IHC) evaluation of hormonal receptor status in breast cancer patients compared to a well-validated quantitative reverse transcription-polymerase chain reaction (RT-qPCR) method. METHODS: This study included 93 invasive breast carcinoma cases that had both standard IHC assay and Oncotype Dx assay results. The same paraffin blocks on which Oncotype Dx assay had been performed were selected. Estrogen receptor (ER) and progesterone receptor (PR) receptor status were evaluated through IHC stains using SP1 monoclonal antibody for ER, and 1E2 monoclonal antibody for PR. All ER and PR immunostained slides were scanned, and invasive tumor areas were marked. Using the QuantCenter image analyzer provided by 3DHISTECH, IHC staining of hormone receptors was measured and converted to histochemical scores (H scores). Pearson correlation coefficients were calculated between Oncotype Dx hormone receptor scores and H scores, and between Oncotype Dx scores and Allred scores. RESULTS: H scores measured by an automated imaging system showed high concordance with RT-qPCR scores. ER concordance was 98.9% (92/93), and PR concordance was 91.4% (85/93). The correlation magnitude between automated H scores and RT-qPCR scores was high and comparable to those of Allred scores (for ER, 0.51 vs. 0.37 [p=.121], for PR, 0.70 vs. 0.72 [p=.39]). CONCLUSIONS: Automated H scores showed a high concordance with quantitative mRNA expression levels measured by RT-qPCR.