Objective:To analyze the clinical significance of molecular classification and hereditary phenotype in endometrial carcinoma (EC) based on high throughput sequencing (NGS).Methods:97 EC samples were collected retrospectively from December 2019 to October 2022 in China-Japan Friendship Hospital. NGS technique was used to analyze the molecular classification, POLE hypermutation, microsatellite high Instability/mismatch repair dysfunction (MSI-H/MMRd), P53 protein abnormality (P53 abn), and non-specific molecular profile (NSMP). Lynch syndrome related genes and BRCA1/2 genes were detected by NGS and their genetic characteristics were analyzed. Results:Of the 97 EC cases, 77 were endometrial adenocarcinoma and 20 were other pathological subtypes. The proportions of the four molecular subtypes were 9.3% (9/97) POLE hypermutation, 16.5% (16/97) MSI-H, 17.5% (17/97) P53 abn and 56.7% (55/97) NSMP, respectively. There were significant differences in age, histological type, lymph node metastasis, pathological stage and other parameters among the four molecular types ( P＜0.05). 8.2% (8/97) were multiple molecular typing and four multiple molecular typings detected, including POLEmut-MSI-H, POLEmut-P53abn, MSI-H-P53abn, P53abn-P53abn, which accounted for 1.0% (1/97), 3.1% (3/97), 1.0% (1/97) and 3.1% (3/97), respectively. The consistent rate of MSI-H and MMR protein expression was 92.9% ( Kappa=0.818, P＜0.001). The coincidence rate between TP53 gene sequencing and P53 protein expression was 88.9% ( Kappa=0.661, P＜0.001). In MSI-H type, 25.0% (4/16) were diagnosed as Lynch syndrome, and 75.0% (12/16) were diagnosed as Lynch like syndrome. 7.2% (7/97) BRCA2 somatic variation was detected, while BRCA1/2 germline variation was not detected in 97 cases. Conclusions:EC molecular classification has feasibility and clinical value. High throughput sequencing can detect low frequency mutations of TP53 gene, suggesting that it can provide more accurate molecular information and more accurate molecular typing effect. It is suggested to further detect Lynch syndrome related genes in patients with MSI-H, so as to carry out genetic management for patients and their families and achieve better therapeutic effect.

Objective:To analyze the clinical significance of molecular classification and hereditary phenotype in endometrial carcinoma (EC) based on high throughput sequencing (NGS).Methods:97 EC samples were collected retrospectively from December 2019 to October 2022 in China-Japan Friendship Hospital. NGS technique was used to analyze the molecular classification, POLE hypermutation, microsatellite high Instability/mismatch repair dysfunction (MSI-H/MMRd), P53 protein abnormality (P53 abn), and non-specific molecular profile (NSMP). Lynch syndrome related genes and BRCA1/2 genes were detected by NGS and their genetic characteristics were analyzed. Results:Of the 97 EC cases, 77 were endometrial adenocarcinoma and 20 were other pathological subtypes. The proportions of the four molecular subtypes were 9.3% (9/97) POLE hypermutation, 16.5% (16/97) MSI-H, 17.5% (17/97) P53 abn and 56.7% (55/97) NSMP, respectively. There were significant differences in age, histological type, lymph node metastasis, pathological stage and other parameters among the four molecular types ( P＜0.05). 8.2% (8/97) were multiple molecular typing and four multiple molecular typings detected, including POLEmut-MSI-H, POLEmut-P53abn, MSI-H-P53abn, P53abn-P53abn, which accounted for 1.0% (1/97), 3.1% (3/97), 1.0% (1/97) and 3.1% (3/97), respectively. The consistent rate of MSI-H and MMR protein expression was 92.9% ( Kappa=0.818, P＜0.001). The coincidence rate between TP53 gene sequencing and P53 protein expression was 88.9% ( Kappa=0.661, P＜0.001). In MSI-H type, 25.0% (4/16) were diagnosed as Lynch syndrome, and 75.0% (12/16) were diagnosed as Lynch like syndrome. 7.2% (7/97) BRCA2 somatic variation was detected, while BRCA1/2 germline variation was not detected in 97 cases. Conclusions:EC molecular classification has feasibility and clinical value. High throughput sequencing can detect low frequency mutations of TP53 gene, suggesting that it can provide more accurate molecular information and more accurate molecular typing effect. It is suggested to further detect Lynch syndrome related genes in patients with MSI-H, so as to carry out genetic management for patients and their families and achieve better therapeutic effect.

Objective:To investigate the clinicopathological features and genetic mutation status of pulmonary intravascular large B cell lymphoma.Methods:The clinicopathological data of eight patients diagnosed with pulmonary intravascular large B cell lymphoma, from April 2018 to May 2023, were retrospectively analyzed. The genetic profile of six patients was detected via next-generation sequencing (NGS) and followed up.Results:All patients included one male and seven females, with a median age of 64 years (ranging from 45 to 66 years). Respiratory symptoms were the most common (7 cases), B symptoms in two cases, hemophagocytic syndrome in two cases. Multiple diffuse ground-glass opacities in both lungs were observed based on the high-resolution chest CT scan. Six cases of mild to moderate ventilation or diffusion dysfunction were observed based on the pulmonary function tests. Moreover, two cases of hypoxemia and two cases with type Ⅰ respiratory failure were recorded. The serum lactate dehydrogenase level increased (7/8), β2-MG level increased (2/8), neuron-specific enolase level increased (7/8), total number of peripheral blood lymphocytes decreased (7/8), and clinical stages were all stage Ⅳ. The neoplastic lymphoid cells were lodged in the lumina of venules and capillaries of the alveolar septum; the tumor cells were large, with prominent nucleoli and frequent mitotic figures. The malignant cells were detected in the extravascular surrounding lung tissue in all cases. The tumor cells expressed mature B cell-associated antigens CD20 and CD79a, and the vascular endothelial markers CD31 and CD34 showed that the tumor cells were filled in the blood vessels, infiltrated blood vessel walls, and perivascular areas. One case was germinal center-type, seven cases were non-germinal center-type, two cases were double-expressing lymphoma, and all cases were EBER-negative. Furthermore, the top five genes with mutation frequencies detected by NGS were MYD88 (5/6), PIM1 (5/6), CD79B (4/6), TCF3 (4/6), and TP53 (3/6). Of the eight cases, seven patients received R-CHOP-based chemotherapy, six cases had complete remission after chemotherapy, one case died, and one case was lost to follow-up.Conclusions:Pulmonary vascular large B cell lymphoma is rare, which shares similar patterns with interstitial lung disease on imaging. Transbronchial lung biopsy is an effective method to confirm the diagnosis. Immunochemotherapy with BTK inhibitors can provide a survival advantage for patients in the future based on molecular typing.

Breast implant associated-anaplastic large cell lymphoma (BIA-ALCL) is very rare. This 39-year-old female patient, more than 10 years after breast augmentation surgery, had suffered left breast swelling and pain for more than 1 year. The original implant (domestic anatomic shape silicone implant, 260 ml) was surgically removed and the capsule of the left breast implant was completely removed. Postoperative pathology confirmed the diagnosis of BIA-ALCL. The patient recovered well after the surgery. This case is the first reported in China mainland, suggest that doctors should attach great importance to the diseases, and diagnose and treat it timely and accurately.

Breast implant associated-anaplastic large cell lymphoma (BIA-ALCL) is very rare. This 39-year-old female patient, more than 10 years after breast augmentation surgery, had suffered left breast swelling and pain for more than 1 year. The original implant (domestic anatomic shape silicone implant, 260 ml) was surgically removed and the capsule of the left breast implant was completely removed. Postoperative pathology confirmed the diagnosis of BIA-ALCL. The patient recovered well after the surgery. This case is the first one reported in China mainland, which suggest that doctors should attach great importance to the diseases, and diagnose and treat it timely and accurately.

Objective:To sum up the experience and improve the capability of clinical diagnosis and treatment of thyroid tuberculosis (TTB) .Methods:In Apr. 2020, the Second Department of General Surgery, Friendship Hospital of Yili Kazakh Autonomous Prefecture, Xinjiang, treated a patient with a huge thyroid cancer (TC), who had no history of tuberculosis. Thyroid cancer was considered for surgical treatment after the assessment by ultrasound and enhanced CT scan, yet the postoperative pathological diagnosis was thyroid tuberculosis. The clinical and pathological data of 357 cases of TTB reported in domestic literature were retrospectively analyzed by searching the relevant databases.Results:This reported case was diagnosed eventually with TTB by postoperative pathology, cured by operation, local and systemic anti-tuberculosis treatment. Among the 357 cases of TTB, there were 95 males and 262 females and the ratio of male to female was 1.0:2.8. Most patients had neck mass as the first symptom (95.5%, 256/268), and 53 patients (19.8%, 53/268) merged with tuberculosis poisoning symptoms. There were 59 cases (21%, 59/281) complicated with extra-thyroid tuberculosis. Among 51 cases, 37 cases (73%, 37/51) were diagnosed with TTB. Eighty cases (30%, 80/265) were suspected of TC before the operation.25 patients (8.5%, 25/294) received antituberculosis treatment, and 269 patients (91.5%, 269/294) received surgical treatment, among which 100 patients (37%, 100/269) underwent unilateral lobectomy. The caseation type was the most common pathology with 154 cases (57.9%, 154/266). Two patients died of TTB after an operation, and the remaining patients were followed up for 6 months to 33 years without recurrence.Conclusions:TTB often lacks typical clinical manifestations and is easily confused with TC. The diagnosis mainly relies on puncture pathological examination. Good results can be achieved with appropriate treatment based on a definite diagnosis.

Breast implant associated-anaplastic large cell lymphoma (BIA-ALCL) is very rare. This 39-year-old female patient, more than 10 years after breast augmentation surgery, had suffered left breast swelling and pain for more than 1 year. The original implant (domestic anatomic shape silicone implant, 260 ml) was surgically removed and the capsule of the left breast implant was completely removed. Postoperative pathology confirmed the diagnosis of BIA-ALCL. The patient recovered well after the surgery. This case is the first reported in China mainland, suggest that doctors should attach great importance to the diseases, and diagnose and treat it timely and accurately.

Breast implant associated-anaplastic large cell lymphoma (BIA-ALCL) is very rare. This 39-year-old female patient, more than 10 years after breast augmentation surgery, had suffered left breast swelling and pain for more than 1 year. The original implant (domestic anatomic shape silicone implant, 260 ml) was surgically removed and the capsule of the left breast implant was completely removed. Postoperative pathology confirmed the diagnosis of BIA-ALCL. The patient recovered well after the surgery. This case is the first one reported in China mainland, which suggest that doctors should attach great importance to the diseases, and diagnose and treat it timely and accurately.

Objective: To investigate the clinicopathologic and molecular genetic characteristics of myxoid pleomorphic liposarcoma (MPLPS). Methods: Six cases of MPLPS diagnosed and consulted in Fujian Provincial Hospital from 2015 to 2021 were collected for histomorphological observation, immunohistochemistry, and fluorescence in situ hybridization (FISH) detection of DDIT3 (CHOP) gene translocation and MDM2/CDK4 gene amplification. Results: There were four males and two females, aged 26-74 years (mean 53.8 years). The tumor size was 3.8-16.0 cm (mean 11.8 cm). All six cases had similar histopathologic features, showing overlapping histologic morphology of myxoid liposarcoma and pleomorphic liposarcoma. Four cases (4/6) were positive for S-100 protein, and the Ki-67 index was 50%-95%. All cases (6/6) were negative for DDIT3 (CHOP) translocation and MDM2/CDK4 amplification by FISH. TP53 (p.R248w) germline mutation was found in one case. Conclusions: MPLPS is a rare subtype of liposarcoma, characterized by overlapping morphology of myxoid liposarcoma and pleomorphic liposarcoma. Genetically, a few of them have TP53 gene germline mutations, but they lack of DDIT3 (CHOP) translocation or MDM2/CDK4 amplification.
Female ; Humans ; Immunohistochemistry ; In Situ Hybridization, Fluorescence ; Liposarcoma/pathology* ; Liposarcoma, Myxoid/diagnosis* ; Male ; Molecular Biology ; Proto-Oncogene Proteins c-mdm2/genetics* ; Translocation, Genetic

Objective:To explore the clinicopathological features of end-stage lung disease complicated with neuroendocrine carcinoma after lung transplantation (LT).Methods:From April 2017 to December 2021, 5 cases of neuroendocrine cancer were diagnosed as end-stage lung disease by hematoxylin-eosin (HE) and immunohistochemical stain.Clinical follow-up data, histological characteristics and immunophenotyping were analyzed retrospectively.Results:The ratio of male-to-female in five recipients was 4: 1 and the average age 64(56-73) years.Three cases were idiopathic pulmonary fibrosis concomitant with small cell carcinoma (including 1 case of combined small cell carcinoma), bronchiectasis plus carcinoid carcinoma (n=1) and connective tissue disease-related fibrosis plus carcinoid carcinoma (n=1). HE stain indicated that morphological spectrum changed from neuroendocrine cell hyperplasia to carcinoid in transplanted lung of bronchiectasis.Immunohistochemical stain indicated that neuroendocrine markers CgA, Syn, CD56 and epithelial markers AE1/AE3, TTF-1 were positive for small cell carcinoma and carcinoid.Ki-67 index of small cell carcinoma (n=2) and combined small cell carcinoma (n=1) was 80% and Ki-67 index of carcinoid (n=2) was ≤1%.Until the last follow-up, 3/5 patients survived and the remaining 2 died of Klebsiella pneumoniae, Corynebacterium striatus and Acinetobacter baumannii infections at Days 33 and 196 post-transplantation.Conclusions:Neuroendocrine carcinoma in transplanted lung is more common in elderly males and end-stage lung disease is mostly idiopathic pulmonary fibrosis.Small cell carcinoma is a major type of neuroendocrine carcinoma.Specific neuroendocrine markers and TTF-1 aid in a definite diagnosis of neuroendocrine carcinoma.Postoperative infection is an important prognostic factor.