Clinicopathological and molecular genetic alterations in monomorphic-epitheliotropic intestinal T-cell lymphoma of the small intestine.

BACKGROUND: Small intestinal monomorphic-epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare aggressive T-cell lymphoma originating in the gastrointestinal tract. This study aimed to investigate the clinicopathological features, immunophenotypes, and molecular genetic changes of MEITL. METHODS: The clinicopathological data for three patients with surgically resected MEITL of the small intestine were collected. Next, immunohistochemical labeling, Epstein-Barr virus (EBV) in situ hybridization, assessment of clonal rearrangement of T-cell receptor (TCR) genes, and next-generation sequencing (NGS) were performed. RESULTS: Of the three patients, two were male and one was female, with ages of 61, 67, and 73 years, respectively. Clinical manifestations were predominantly abdominal pain and distension. Histopathology revealed infiltrative growth of small-to-medium-sized lymphocytes with a consistent morphology between the intestinal walls, accompanied by an obvious pro-epithelial phenomenon. The expression of CD3, CD8, CD43, CD56, TIA-1, CD103, H3K36me3, and Bcl-2 was detected, and the Ki-67 proliferation index ranged from 50% to 80%. All three patients tested negative for EBER. However, monoclonal rearrangement of the TCR gene was detected in them. NGS testing showed a JAK3 mutation in all three cases. Further, STAT5B, SETD2, and TP53 mutations were each observed in two cases, and a BCOR mutation was found in one case. All patients were treated with chemotherapy after surgery. Two patients died 7 and 15 month post-operation, and one patient survived for 5 months of follow-up. CONCLUSIONS: Our findings demonstrate that mutations in JAK3 and STAT5B of the JAK/STAT pathway and inactivation of the oncogene SETD2 markedly contribute to the lymphomagenesis of MEITL.

Duodenal malignant melanoma: Primary and metastatic case series and literature review.

RATIONALE: Duodenal malignant melanoma is rare, and its early clinical symptoms are insidious, making it difficult to diagnose in its early stages. Combined with previous literature, We explored the clinicopathological characteristics and v-raf murine sarcoma viral oncogene homolog B1 mutations in primary and metastatic duodenal malignant melanoma, in order to provide some experience on its differential diagnosis and treatment. PATIENT CONCERNS: The 2 patients (a 63-year-old female [Patient 1] and a 54-year-old male [Patient 2]) experienced pain and discomfort in their upper abdomen. Additionally, one of them had a history of skin malignant melanoma. DIAGNOSES: Patient 1 was diagnosed with primary duodenal malignant melanoma; and Patient 2 was diagnosed with metastatic duodenal malignant melanoma. INTERVENTIONS: Patient 1 underwent pancreaticoduodenectomy; and patient 2 underwent complete surgical resection and lymph node dissection. OUTCOMES: After surgery, Patient 1 survived after 26 months follow-up, and Patient 2 died of systemic multi-organ circulatory failure after 1 month follow-up. LESSONS: Primary and metastatic cases should be diagnosed through previous medical history analysis and detailed physical and auxiliary examinations. This would enable a diagnosis based on characteristic histomorphology and immunohistochemical markers. An early diagnosis and surgical treatment can prolong patient survival and the molecular inspection of v-raf murine sarcoma viral oncogene homolog B1 mutations can guide follow-up treatment.

A cytodiagnosis of adenoid cystic carcinoma of the tracheobronchial tree through a systematic clinical case comparison and analysis.

BACKGROUND: Primary adenoid cystic carcinoma (AdCC) of the tracheobronchial tree is very rare with a high risk for recurrence and metastasis. The diagnosis of AdCC by histologic and immunohistochemical means has been well studied clinically. However, the identification of AdCC by cytologic features remains elusive due to the atypical features the cancer presents. This study aimed to describe the cytologic features of AdCC by using bronchial brushing, which could aid in distinguishing AdCC from other pulmonary carcinomas. METHODS: The cytopathological features of bronchial brushing smears collected from seven cases were histologically diagnosed as AdCC. The defined cytologic features, which could potentially be diagnostic, were systemically analyzed. RESULTS: Four out of the seven cytologic cases were inconcordance with the histologic diagnosis and cytologically classified as positive for malignant cells, small cell carcinoma, or atypical cells. Three cases showed a characteristic adenoid structure and magenta stroma forming globule, which was distinguished from the four cases. Cytologically, the above mentioned three cases were uniform with relatively small bland nuclei and little cytoplasm. In this study, only one case showed atypical polygonal medium-sized cells with conspicuous nucleoli. CONCLUSIONS: Unlike fine-needle aspiration cytology, magenta stroma globules might offer an alternate clue for cytodiagnosis of AdCC clinically. Bronchial brushings cytology was more present in bland uniform cells with high nuclear to cytoplasmic ratios and background mucoid substance. More cases should be collected and confirmed using histopathology with careful film reading to reduce the rate of misdiagnosis.

Relationship between miR-204 and ANGPTL2 expression and diagnosis, pathological stage, and prognosis in patients with colon cancer.

BACKGROUND: Angiopoietin-like protein 2 (ANGPTL2) is linked to various tumors. MicroRNA-204 (miR-204) is associated with colorectal cancer (CRC). Bioinformatic analysis has demonstrated a targeting relationship between miR-204 and ANGPTL2. The present study aimed to investigate the role of miR-204 in the proliferation and apoptosis of colorectal tumor cells. METHODS: Colorectal tumor tissues were collected. Normal colon mucosa was used as a control. The relationship between miR-204 and ANGPTL2 expression and tumor stage and prognosis was analyzed. The dual-luciferase reporter assay confirmed targeted regulation between miR-204 and ANGPTL2. SW480 cells were allocated to the miR-NC group and the miR-204 mimic group, followed by apoptotic analysis using flow cytometry and cellular proliferation analysis using EdU staining. RESULTS: Compared with normal colonic mucosa, miR-204 expression was decreased in colorectal tumor tissues and ANGPTL2 expression was increased, which correlated with TNM staging. The prognosis of patients with low miR-204 expression and high ANGPTL2 expression was worse than for patients with high miR-204 expression and low ANGPTL2 expression. The dual-luciferase reporter assay confirmed a targeting regulation relationship between miR-204 and ANGPTL2. Transfection of miR-204 mimic significantly inhibited the expression of ANGPTL2 and cell proliferation in SW480 cells and promoted apoptosis. CONCLUSIONS: Downregulating miR-204 expression plays a vital role in upregulating ANGPTL2 expression and promoting the pathogenesis of CRC. MiR-204 is able to hinder the proliferation of colorectal tumor cells and encourage apoptosis by targeting the inhibition of ANGPTL2 expression.