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Objective:To investigate the genomic manifestation and pathogenesis of osteosarcoma with different relapse pattens, which were respectively initially presented with bone metastasis or pulmonary metastasis.Methods:From May 1, 2021 to October 1, 2021, 38 fresh tumor specimens and some paraffin-embedded specimens of high-grade osteosarcoma were collected in Peking University People's Hospital, including 29 males and 9 females, aged 19.6±2.2 years (range, 6-61 years). Among the 38 cases, 12 cases had initial bone metastasis (group A) and 26 cases had initial lung metastasis (group B), of which 15 cases (40%, 15/38) had paired specimens of primary and metastatic lesions. Based on Illumina NovaSeq 6000, we analyzed whole-exome sequencing (WES) as well as transcriptome for osteosarcoma with paired samples in different relapse patterns. During all their treatment courses, we also collected their paired samples to reveal these tumors' evolution. We sought to redefine disease subclassifications for osteosarcoma based on genetic alterations and correlate these genetic profiles with clinical treatment courses to elucidate potential evolving cladograms.Results:We found that osteosarcoma in group A mainly carried single-nucleotide variations (83%, 10/12), displaying higher tumor mutation burden [4.9 (2.8, 12.0) & 2.4 (1.4, 4.5), P=0.010] and neoantigen load [743.0 (316.5, 1,034.5) & 128.5 (49.0, 200.5), P=0.003], while those in group B mainly exhibit structural variants (58%, 15/26). The mutation spectrum showed that there was a significant difference in age-related gene imprinting 1 between the bone metastasis group and the lung metastasis group ( P=0.005). Samples were randomly selected from group A (3 patients) to investigate immunologic landscape by multiplex immunohistochemistry, from which we noticed tertiary lymphatic structure from one patient from group A. High conservation of reported genetic sequencing over time was found in their evolving cladograms. Conclusion:Osteosarcoma with mainly single-nucleotide variations other than structural variants might exhibit biological behavior predisposing toward bone metastases with older in age as well as better immunogenicity in tumor microenvironment.
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Purpose@#The unique chromosomal rearrangements of endometrial stromal sarcoma (ESS) make it possible to distinguish high-grade ESS (HGESS) and low-grade ESS (LGESS) from the molecular perspective. Analysis of ESS at the genomic and transcriptomic levels can help us achieve accurate diagnosis of ESS and provide potential therapy options for ESS patients. @*Materials and Methods@#A total of 36 ESS patients who conducted DNA- and/or RNA-based next-generation sequencing were retrospectively enrolled in this study. The molecular characteristics of ESS at genomic and transcriptomic levels, including mutational spectrum, fusion profiles, gene expression and pathway enrichment analysis and features about immune microenvironment were comprehensively explored. @*Results@#TP53 and DNMT3A mutations were the most frequent mutations. The classical fusions frequently found in HGESS (ZC3H7B-BCOR and NUTM2B-YWHAE) and LGESS (JAZF1-SUZ12) were detected in our cohort. CCND1 was significantly up-regulated in HGESS, while the expression of GPER1 and PGR encoding estrogen receptor (ER) and progesterone receptor (PR) did not differ significantly between HGESS and LGESS. Actionable mutations enriched in homologous recombination repair, cell cycle, and phosphoinositide 3-kinase/AKT/mammalian target of rapamycin pathways were detected in 60% of HGESS patients. Genes with up-regulated expression in HGESS were significantly enriched in five immune-related pathways. Most HGESS patients (85.7%) had positive predictors of immunotherapy efficacy. Moreover, immune microenvironment analysis showed that HGESS had relatively high immune infiltration. The degree of immune infiltration in HGESS patients with ZC3H7B-BCOR fusion was relatively higher than that of those with NUTM2B-YWHAE fusion. @*Conclusion@#This study investigated the molecular characteristics of ESS patients at the genomic and transcriptomic levels and revealed the potentially high sensitivity of targeted therapy and immunotherapy in a subset of HGESS with specific molecular features, providing a basis for guiding decision-making of treatment and the design of future clinical trials on precision therapy.
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Objective:To investigate the molecular classification of endometrial carcinoma (EC) and atypical endometrial hyperplasia (AEH) treated with fertility-sparing therapy, and to analyze its relationship with clinicopathological factors and treatment efficacy.Methods:A total of 46 EC and AEH patients who received fertility-sparing therapy and molecular classification tested by next generation sequencing in Peking University People's Hospital from June 2020 to December 2021, were retrospectively collected. The relationships between molecular classification and clinicopathological factors and treatment outcomes were analyzed.Results:(1) Of the 46 patients, including 40 EC and 6 AEH patients, 32 cases (71%, 32/45) had complete response (CR) after treatment, with median CR time of 8 months, 6 cases (13%, 6/45) had partial response, and 8 cases (25%, 8/32) had recurrence. (2) The cases were distributed as no specific molecular profile (NSMP) 34 cases (74%, 34/46) subtype mainly, high microsatellite instability (MSI-H) 7 cases (15%, 7/46), POLE ultra-mutated 3 cases (7%, 3/46), and copy number high (CNH) 2 cases (4%, 2/46). Patients with CNH had the hightest serum cancer antigen 125 (CA 125) level [(34.3±35.2) kU/L]. MSI-H subtype had more family history of tumors (6/7), more with loss of mismatch repair (MMR) protein expression by immunohistochemical (7/7), and higher nuclear antigen associated with cell proliferation (Ki-67) expression level (3/3). (3) Patients in MSI-H subgroup had the lowest CR rate at 6 months (0/6; P=0.019), and survival analysis showed that they were less likely to achieve CR than those with NSMP subtype ( P=0.022). Subgroup analysis of patients with NSMP showed that age ≥30 years related with longer treatment time to CR ( P=0.010). In addition, CR was obtained after treatment in 2/3 POLE ultra-mutated cases and 2/2 CNH, respectively. Conclusions:Molecular classification relates with the treatment response in patients with EC and AEH treated with fertility-sparing therapy. Patients with MSI-H subtype have poor treatment efficacy, and patients with NSMP need to be further studied and predict treatment benefit. However, there are few cases in POLE ultra-mutated and CNH subtypes, which need further clinical research.
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Objective:To investigate the significance of MLH1 protein expression and MLH1 gene methylation rate between metastatic solid pseudopapillary tumor of pancreas (SPT) and non-metastatic SPT, and to explore the correlation between MLH1 gene methylation and SPT metastasis.Methods:Twelve metastatic SPT patients admitted to Peking University People's Hospital, Rizhao Central Hospital and Chaoyang Central Hospital of Liaoning Province from January 2009 to May 2022 were studied retrospectively, including 3 males and 9 females, with a median age of 47 years old, ranging from 21 to 73 years old. Thirty non-metastatic SPT patients with clear diagnosis, clear medical history and complete follow-up data from pathological database of Peking University People's Hospital from January 2009 to May 2017 were selected as the control group, including 12 males and 18 females, with a median age of 42 years old, ranging from 34 to 69 years old. Clinical data such as gender, age and pathological data were collected. Immunohistochemical expression of MLH1 protein and methylation of MLH1 gene were detected by pathological paraffins.Results:There was no significant difference in general data between the two groups (all P>0.05). Among the 12 metastatic SPT patients, 4 cases metastasized to liver, 2 to spleen, 2 to lung, 2 to lymph nodes, 1 to mediastinum, and 1 to sacrum. Compared with the non-metastatic tissue, the MLH1 protein deletion in metastatic pancreatic lesions (metastatic SPT-P) and metastatic lesions (metastatic SPT-M) were increased [both 33.3%(4/12)], and the difference was statistically significant (both Chi square=5.00, both P=0.041). Compared with 0 (0/30) MLH1 gene methylation rate in non-metastatic SPT tissues, the methylation rate of MLH1 gene in metastatic SPT-M and metastatic SPT-P tissues [both 30% (3/10)] were higher, with statistical significance (both Chi square=0.96, both P=0.032). Conclusion:Compared with non-metastatic SPT, the loss rate of MLH1 protein expression and MLH1 gene methylation are increased in metastatic SPT. MLH1 methylation may occur before metastasis, which can be used as a predictor of SPT metastasis.
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Objective:To study the clinicopathological features of metaplastic breast cancer (MBC) , and its prognostic factors.Methods:Data of 49 MBC cases and 30 cases of invasive ductal carcinoma (IDC) during the same period as matched control were collected. The immunohistochemistry staining of CK5/6, CK, P63, ER, HER2, Ki67 was performed in all MBC samples.Results:In MBC cases, the median age was 55 years. Median tumor size was 2.5 cm (range, 0.6-19 cm). Fifteen cases were classified as metaplastic carcinoma with heterologous mesenchymal differentiation (8 as matrix-producing carcinoma), 12 as spindle cell carcinoma, 7 as squamous cell carcinoma, 2 as low-grade adenosquamous carcinoma, 2 as fibromatosis-like metaplastic carcinoma, and 11 as mixed metaplastic carcinoma. The 5-, 10-year overall survival rate was 50%, 41%, respectively, lower than those of IDC (76%,63%) (all P<0.05). Lymph node metastasis rate, and expression of ER, PR, HER2 in MBC were lower than those in IDC (all P<0.05). Triple-negative cases in MBC were more than those of IDC ( χ2=26.244, P=0.000). The proliferative index of Ki67 was statistically different between the two groups ( t=2.624, P=0.011). Conclusions:MBC is a rare and heterogenous breast cancer. Compared to IDC, MBCs are usually larger, lower in lymph nodes metastasis, higher in proliferative index of Ki67, more triple-negative, hence with a poorer prognosis.
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Objective:To investigate the efficacy and pregnancy outcome of fertility-preserving treatment for patients with stage Ⅰa, grade 2 endometrial cancer (EC).Methods:Clinical data was retrospectively collected for EC or atypical endometrial hyperplasia (AEH) patients treated in Peking University People's Hospital, Foshan First People's Hospital of Guangdong Province and First Affiliated Hospital of Sun Yat-sen University, from 2010 to 2019. Inclusion criteria for fertility-preserving treatment included: (1) Age ≤45 years. (2) EC with histological differentiation of G 1, G 2 or endometrial AEH. (3) EC disease should be stage Ⅰa, confined to the endometrium without myometrial invasion, lymph node or extrauterine metastasis. Treatment regimen: patients were given oral progestin therapy and endometrial pathology was evaluated every three months. Patients were divided into three groups as G 2 EC group, G 1 EC group and AEH group based on the histological differentiation. Oncological and pregnancy outcomes were compared among them. Results:(1) Totally 57 eligible patients were included in this study, including 11 cases with G 2 EC, 22 cases with G 1 EC, and 24 cases with AEH. (2) Oncological outcome: among the three groups of G 2 EC, G 1 EC and AH, the complete remission rates (9/11, 91% and 96%, respectively) and recurrence rates (3/9, 30% and 22%, respectively) were not significantly different (all P>0.05). Median remission time was significantly longer in the G 2 EC group than those in the other two groups (8, 6 and 4 months; P=0.046). Among 9 G 2 EC patients who recurred after complete remission, three patients relapsed at 7, 18 and 53 months, respectively. All 3 patients chose fertility-sparing treatment again, and all achieved complete remission after retreatment. (3) Pregnancy outcome: among the three groups, the assisted reproduction technology rates (4/8, 5/18 and 36%, respectively) and pregnancy rates (6/8, 5/18 and 36%, respectively) had no significant difference ( P>0.05). However, time interval to pregnancy was shorter in G 2 EC patientsthan the other two groups (4, 9 and 22 months, respectively; P=0.006). Conclusions:Fertility-preserving treatment for patients with stageⅠa, G 2 endometrial cancer, may obtain a relatively high remission rate and an acceptable pregnancy rate. However, further exploration is needed due to the limited number of cases.
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Objective:To investigate the clinical manifestations, imaging features, histopathological features, diagnostic pitfalls, treatment and prognosis of clear cell chondrosarcoma (CCCS).Methods:23 cases of CCCS admitted and operated from January 2010 to January 2020 were analyzed retrospectively. Among the 23 cases, 21 were males and 2 were females. There were 8 cases (35%) aged 21-40, 10 cases (43%) aged 41-60 and 5 cases (23%) aged 61-80. There were 8 femurs, 7 pelvis, 4 thoracolumbar spine, 3 sacrum and 1 tibia. The specimens were fixed with 10% phosphate-buffered formalin, decalcified with 5% nitric acid, embedded in paraffin and stained with hematoxylin and eosin (HE) and immunohistochemistry (Envision). The preoperative imaging and clinical symptoms, and the postoperative histopathological and immunophenotype under the microscope were collected. And the relevant literature was reviewed to summarize the clinical, imaging and pathomorphological characteristics of CCCS.Results:23 cases of CCCS showed bone destruction in imaging, some cases were well-circumscribed lytic lesions, some cases had sclerotic margin. The serum alkaline phosphatase was increased in 7 patients before operation. The tumor tissue was gray-white and gray-red in general and some cases showed porcelain white cartilage-like areas. Microscopically, the tumor cells are round or polygonal, some of them have clear cytoplasm and boundary, some of them are eosinophilic, some of them have round and centrally located nuclei, and mitotic image is rare. It is often seen that there are nodular distribution of cartilage-like matrix and immature woven bone, multinucleated osteoclast-like giant cell scattered in those components. Immunohistochemical staining: S-100, D2-40, EMA, Vimentin, p16, SATB2 can be positive in varying degrees. The surgical treatment is mainly through en bloc excision. 10 patients had recurrence and no distant metastasis.Conclusion:CCCS is a rare subtype of chondrosarcoma, which has low-grade malignant biological behavior and is easy to be misdiagnosed clinically and pathologically. Pathological diagnosis needs to be careful. Careful observation of microscopic histology is necessary in order to avoid over-diagnosis of osteosarcoma leading to clinical treatment errors. Once the biopsy is confirmed, it needs en bloc excision in order to reduce the recurrence rate. Long-term follow-up is needed after the operation, the overall prognosis was good.
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Objective To investigate the clinicopathological characteristics and significance of solid, endometrioid and transitional (SET) ovarian high-grade serous carcinoma (HGSC). Methods A total of 408 cases of ovarian HGSC admitted to Peking University People's Hospital from January 2011 to September 2016 were collected. (1) According to the proportion of tumors with SET form in all tumors, they were divided into three groups: HGSC-classic group (<25%), HGSC-SET Ⅰ (25%-50%) and HGSC-SETⅡ (>50%) group. The clinical and pathological characteristics of three groups of ovarian HGSC patients were compared respectively. (2) According to the growth pattern, that was, the proportion of pushing/expanding invasive tumors in the whole pelvic disseminated tumors of pelvic disseminated tumors, the three groups were divided into four subgroups: group A (0-25%), group B (26%-50%), group C (51%-75%) and group D (>75%). Differences in progression-free survival (PFS) among the four subgroups in each group were compared respectively. Results The median age of 408 cases with ovarian HGSC was 63.3 years (47-78 years), including 152 cases premenopausal and 256 cases postmenopausal. Among 408 cases of ovarian HGSC, 290 cases were in HGSC-classic group, 91 cases in HGSC-SETⅠand 27 cases in HGSC-SET Ⅱ group. (1) There were significant differences in age, proportion of menopausal patients, tumor necrosis (including map necrosis or acne necrosis), response rate to primary chemotherapy, 5-year mortality rate and PFS between HGSC-SET Ⅰ and HGSC-SET Ⅱ (P<0.05). There was no significant difference among the above indexes between HGSC-SETⅠand HGSC-SETⅡ(P>0.05). In HGSC-classic group, HGSC-SET Ⅰ and HGSC-SET Ⅱ, the proportion of family members or patients with history of epithelial ovarian cancer or breast cancer increased in turn, and the detection rate of serous tutal intraepithelial carcinoma (STIC) in fallopian tube tissue decreased in turn. There were significant differences between the two groups (P<0.05). (2) In HGSC-classic group, there were 147 cases in group A, 124 cases in group B and 19 cases in group C (0 case in group D), with median PFS of 17.4, 17.7 and 16.5 months respectively (P<0.05); 10, 6, 29 and 46 cases in group A, B, C and D in HGSC-SETⅠ, with median PFS of 9.6, 12.7, 30.1 months and 39.0 months respectively, which there were significant difference among group A and C and D (all P<0.05); among group B, C and D group in HGSC-SET Ⅱ, there were respectively 3, 12 and 12 cases (0 case in group A), and the median PFS was 13.5, 34.2 and 47.8 months (P<0.05). PFS was positively correlated with the increase of push/expansive infiltration ratio. Conclusions The detection rate of STIC in ovarian HGSC patients with SET is higher, the effect of primary chemotherapy is better, and PFS is prolonged. PFS was significantly prolonged in patients with pelvic disseminated tumors of HGSC-SET, the infiltration of which were predominated by pushing or expanding boarder.
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Objective To investigate the clinicopathological features of solid papillary carcinoma of the breast.Methods A retrospective study was performed to analyze the clinical and histopathologic manifestations in 44 cases of SPC in Peking University People's Hospital from 2013.7 to 2017.10.Results All the patients were female and mean age was 66.5 years.17 cases complained of nipple discharge and 27 cases had breast mass.Pathologically tumors were of solid-papillary growth pattern.The tumor cells were polygonal or oval with mucin production and neuroendocrine differentiation.22 cases were associated with invasive carcinoma,among which 15 cases were non-special invasive carcinomas.7 cases were mucinous carcinoma.Six cases underwent modified radical mastectomy and axillary lymph nodes excision with two metastasis in an axillary lymph node.38 cases underwent breast conserving surgery or mastectomy.There were no local recurrence or distant metastasis during the follow-up periods of 12-48 months.Conclusion Solid papillary carcinoma of breast is a rare pathology type with predilection in older women.The postoperative prognosis is fair.
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Objectives To study the significance of SATB2 expression in colon adenocarcinoma and its differential diagnosis function for ovarian metastatic adenocarcinoma.Methods Immunohistochemistry was used to detect the expression level of SATB2 in 130 cases of colon adenocarcinoma.The relationship between the positive rate of SATB2 expression in colon cancer and clinicopathological factors was studied.Forty-seven cases of pancreatic ductal adenocarcinoma,22 cases of cholangiocarcinoma,46 cases of gastric adenocarcinoma,and 53 cases of ovarian mucinous adenocarcinoma were studied respectively.Results The positive expression rate of SATB2 in 130 cases of colon adenocarcinoma is 73.8%.The SATB2 expression bears no correlation with gender,age,tumor size,location,histology type,lymph node metastasis,staging,local recurrence,distant metastasis,survival,Kras mutation,and microsatellite stability.The expression rate of SATB2 is significantly higher in well differentiated and moderately differentiated colon adenocarcinoma than that in poorly differentiated adenocarcinoma (x2 =12.804,P =0.002);the expression rate in the cases without tumor deposit is significantly higher than in cases with tumor deposit (x2 =6.485,P =0.011).There was no positive expression in all cases of pancreatic adenocarcinoma,cholangiocarcinoma,gastric adenocarcinoma,nor in ovarian mucinous adenocarcinoma.Conclusion The expression of SATB2 is associated with the differentiation of colon adenocarcinoma and the formation of tumor deposit.SATB2 can be used as an effective tumor marker for identifying colorectal cancer ovarian metastases.
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Objectives@#To study the significance of SATB2 expression in colon adenocarcinoma and its differential diagnosis function for ovarian metastatic adenocarcinoma.@*Methods@#Immunohistochemistry was used to detect the expression level of SATB2 in 130 cases of colon adenocarcinoma. The relationship between the positive rate of SATB2 expression in colon cancer and clinicopathological factors was studied. Forty-seven cases of pancreatic ductal adenocarcinoma, 22 cases of cholangiocarcinoma, 46 cases of gastric adenocarcinoma, and 53 cases of ovarian mucinous adenocarcinoma were studied respectively.@*Results@#The positive expression rate of SATB2 in 130 cases of colon adenocarcinoma is 73.8%. The SATB2 expression bears no correlation with gender, age, tumor size, location, histology type, lymph node metastasis, staging, local recurrence, distant metastasis, survival, Kras mutation, and microsatellite stability. The expression rate of SATB2 is significantly higher in well differentiated and moderately differentiated colon adenocarcinoma than that in poorly differentiated adenocarcinoma (χ2=12.804, P=0.002); the expression rate in the cases without tumor deposit is significantly higher than in cases with tumor deposit (χ2=6.485, P=0.011). There was no positive expression in all cases of pancreatic adenocarcinoma, cholangiocarcinoma, gastric adenocarcinoma, nor in ovarian mucinous adenocarcinoma.@*Conclusion@#The expression of SATB2 is associated with the differentiation of colon adenocarcinoma and the formation of tumor deposit. SATB2 can be used as an effective tumor marker for identifying colorectal cancer ovarian metastases.
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Objective@#To investigate the clinicopathological characteristics and significance of solid, endometrioid and transitional (SET) ovarian high-grade serous carcinoma (HGSC).@*Methods@#A total of 408 cases of ovarian HGSC admitted to Peking University People's Hospital from January 2011 to September 2016 were collected. (1) According to the proportion of tumors with SET form in all tumors, they were divided into three groups: HGSC-classic group (<25%), HGSC-SET Ⅰ (25%-50%) and HGSC-SET Ⅱ (>50%) group. The clinical and pathological characteristics of three groups of ovarian HGSC patients were compared respectively. (2) According to the growth pattern, that was, the proportion of pushing/expanding invasive tumors in the whole pelvic disseminated tumors of pelvic disseminated tumors, the three groups were divided into four subgroups: group A (0-25%), group B (26%-50%), group C (51%-75%) and group D (>75%). Differences in progression-free survival (PFS) among the four subgroups in each group were compared respectively.@*Results@#The median age of 408 cases with ovarian HGSC was 63.3 years (47-78 years), including 152 cases premenopausal and 256 cases postmenopausal. Among 408 cases of ovarian HGSC, 290 cases were in HGSC-classic group, 91 cases in HGSC-SET Ⅰ and 27 cases in HGSC-SET Ⅱ group. (1) There were significant differences in age, proportion of menopausal patients, tumor necrosis (including map necrosis or acne necrosis), response rate to primary chemotherapy, 5-year mortality rate and PFS between HGSC-SET Ⅰ and HGSC-SET Ⅱ (P<0.05). There was no significant difference among the above indexes between HGSC-SET Ⅰ and HGSC-SET Ⅱ (P>0.05). In HGSC-classic group, HGSC-SET Ⅰ and HGSC-SET Ⅱ, the proportion of family members or patients with history of epithelial ovarian cancer or breast cancer increased in turn, and the detection rate of serous tutal intraepithelial carcinoma (STIC) in fallopian tube tissue decreased in turn. There were significant differences between the two groups (P<0.05). (2) In HGSC-classic group, there were 147 cases in group A, 124 cases in group B and 19 cases in group C (0 case in group D), with median PFS of 17.4, 17.7 and 16.5 months respectively (P<0.05); 10, 6, 29 and 46 cases in group A, B, C and D in HGSC-SET Ⅰ, with median PFS of 9.6, 12.7, 30.1 months and 39.0 months respectively, which there were significant difference among group A and C and D (all P<0.05); among group B, C and D group in HGSC-SET Ⅱ, there were respectively 3, 12 and 12 cases (0 case in group A), and the median PFS was 13.5, 34.2 and 47.8 months (P<0.05). PFS was positively correlated with the increase of push/expansive infiltration ratio.@*Conclusions@#The detection rate of STIC in ovarian HGSC patients with SET is higher, the effect of primary chemotherapy is better, and PFS is prolonged. PFS was significantly prolonged in patients with pelvic disseminated tumors of HGSC-SET, the infiltration of which were predominated by pushing or expanding boarder.
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Objective@#To investigate the clinicopathological features of solid papillary carcinoma of the breast.@*Methods@#A retrospective study was performed to analyze the clinical and histopathologic manifestations in 44 cases of SPC in Peking University People′s Hospital from 2013.7 to 2017. 10.@*Results@#All the patients were female and mean age was 66.5 years. 17 cases complained of nipple discharge and 27 cases had breast mass .Pathologically tumors were of solid-papillary growth pattern. The tumor cells were polygonal or oval with mucin production and neuroendocrine differentiation. 22 cases were associated with invasive carcinoma, among which 15 cases were non-special invasive carcinomas. 7 cases were mucinous carcinoma.Six cases underwent modified radical mastectomy and axillary lymph nodes excision with two metastasis in an axillary lymph node.38 cases underwent breast conserving surgery or mastectomy. There were no local recurrence or distant metastasis during the follow-up periods of 12-48 months.@*Conclusion@#Solid papillary carcinoma of breast is a rare pathology type with predilection in older women. The postoperative prognosis is fair.
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Objective: To evaluate whether clinical imaging findings of sarcomas after preoperative chemotherapy correlate with tumor responses by pathological evaluation using the rate of necrosis, so as to develop reliable and quantitative evaluation of clinical re-sponse. Methods: We retrospectively reviewed the medical records of 190 patients with high-grade sarcomas (mainly osteosarcomas and Ewing's sarcomas) that originated from the bone and who received neoadjuvant chemotherapy from June 1, 2014 to March 1, 2017 at Peking University People's Hospital. Finally, 157 lesions were evaluated by clinical imaging, including X-ray, computed tomogra-phy, magnetic resonance imaging, and bone scans or PET/CT. All patients underwent surgery at our center and pathological evaluation by tumor necrosis rates, which were graded by Huvos'classification, where gradeⅠis 0 to 49%, gradeⅡis 50% to 89%, gradeⅢis 90% to 99%, and gradeⅣis 100% necrosis. Statistical diversity analysis was performed by different pathological groups and receiver operating characteristic (ROC) curves. ROC curves were generated to determine the dividing clinical parameters (cut-off values) to dis-tinguish different pathological groups. Results: The cut-off values of the rate change in maximum diameters of tumors located in the extremities were 86%, 50.7%, and 0.02% for Huvos'Ⅳ,Ⅲ,Ⅱ, andⅠgroups, respectively. The differentiation was not obvious using bone scans to distinguish different pathological responses. The cut-off value for SUVmax for Huvos'Ⅲ,Ⅱ, andⅠgroups were 60.7% and 31.4%, respectively. We did not identify any valuable clinical parameters to evaluate the lesion restricted inside the bone. For sar-comas that originated from the axial skeleton, because of the small size of the sample, the differentiation was not so obvious. Conclu-sions: This study clearly defined the measuring methods for sarcomas primarily originating from the bone and attempted to determine meaningful cut-off values for multiple pathological response groups. A prospective multicenter trial is warranted to expand the sample size to make this clinical evaluation more precise and practical.
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Objective@#To investigate the expression of immunomarkers CK7, CK20, CK17, CDX2, MUC1 and MUC2 in primary adenocarcinoma of the ampulla of Vater, to explore the role of these markers in the histopathologic subclassification of ampullary carcinoma; and to provide biologic basis for precision treatment of patients with different types of ampullary carcinoma.@*Methods@#Forty-two cases of primary ampullary carcinoma were collected at Peking University People′s Hospital, from 2012 to 2018 year. There were 22 males and 20 females. Aged range 42 to 88 years old, with mean aged (62±11) years. Among the patients, 6 was high differentiation, 19 median differentiation, and 17 low differentiation. Immunohistochemical studies on the expression of CK7, CK20, CK17, CDX2, MUC1 and MUC2 were performed in 42 cases of primary ampullary carcinoma. The relationship between different ampullary carcinoma subtypes and clinicopathologic survival data was analyzed using SPSS 16.0 statistical software.@*Results@#Three histopathologic subtypes were observed. Among 42 cases, 8(19.0%)were classified as intestinal subtype, which showed a positive expression rate of 8/8 for both CK20 and CDX2, and 5/8 for MUC2. Both CK7 and CK17 were weakly expressed in one case (1/8). No expression was observed for MUC1 in this subtype. Twenty-two (52.4%,22/42) cases were classified as pancreaticobiliary subtype, which showed a positive expression rate of 100.0%(22/22) for both CK7 and MUC1, and 90.9% (20/22) for CK17. No expression was observed for CK20, CDX2 and MUC2.The remaining 12 (28.6%) cases were classified as mixed subtype, which showed variable expression patterns. The expression frequencies of these 6 immunomarkers in different subtypes of ampullary carcinoma did not correlate with various clinicopathologic factors such as patient gender and age, tumor size, histologic differentiation, pancreatic and bile duct invasion, or the depth of duodenal invasion. However, stage Ⅲ+Ⅳ diseases were more commonly seen in pancreaticobiliary type (63.6%,14/22) than intestinal type (2/8) and mixed type (3/9; χ2=6.508, P=0.039). Follow-up data showed a trend of better survival rate for patients with intestinal subtype than those with mixed and pancreaticobiliary subtypes.@*Conclusions@#Ampullary carcinoma can be subclassified into three different subtypes using a panel of six immunomarkers, especially for the identification of subtypes of poorly differentiated carcinoma. CK7, CK17 and MUC1 are major markers of pancreaticobiliary subtype, whereas CK20, CDX2 and MUC2 are useful markers for intestinal subtype. The mixed subtype variably expresses these markers. The prognosis of patients with intestinal subtype appears better than that of pancreaticobiliary and mixed subtypes. Accurate subtyping of ampullary carcinoma is clinically important to patient management and prognosis assessment.
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Objective To study the clinicopathologic features,diagnosis and differential diagnosis of tumors of haematopoietic and lymphoid tissue in the female productive tract. Methods Eleven cases of myeloid sarcoma and leukemia, 9 of non Hodgkin lymphoma(NHL),13 of cervical lymphoma-like lesions were selected from Peking University People′s Hospital from January 2006 to August 2017. According to WHO classification of tumors of haematopoietic and lymphoid tissues(2008)and updated classification(2016),the cases were studied by microscopy,immunohistochemistry and in situ hybridization.Results In 20 cases of tumors of haematopoietic and lymphoid tissue,the mean and median age was 48.5 and 56 years old(range:16-77 years old).In cases of lymphoma-like lesion of uterine cervix,the mean and median age was 45.9 and 48 years old(range:23-62 years old).The patients with neoplasm present as fever,fatigue, hypogastralgia, colporrhagia and mass etc. Eight cases had history of acute myeloid leukemia, and 3 had myeloid leukemia while pregnancy. One case of chronic lymphocytic leukaemia/small lymphocytic lymphoma(CLL/SLL)had history of ovary small cell carcinoma and high grade serous carcinoma resected with chemotherapy.One case of diffuse large B cell lymphoma(DLBCL)had history of renal transplantation. Lactic dehydrogenase(LDH)was elevated in 9 cases(9/18).The cases of lymphoma-like lesion present as contact bleeding in most cases and all located in cervix. Four cases of neoplasm located in vulva, 1 in vagina,4 in cervix, 4 in uterine corpus, 8 in ovary and 2 in placenta.Clinical staging of NHL: 4 case was stageⅠ,1 case of stageⅢ,and 4 cases of stageⅣ.Pathological morphology:9 cases were myeloid sarcoma, 2 cases were placenta invaded by myeloid leukemia. Six cases were DLBCL, and 1 case was CLL/SLL, 1 case was mucosa associated lymphoid tissuse lymphoma(MALToma), and 1 case was anaplastic large cell lymphoma. Resected mass, chemotherapy was performed in tumors of haematopoietic and lymphoid tissue. Five cases of myeloid sarcoma and 2 of NHL died. In 13 cases of lymphoma-like lesion of uterine cervix, the general condition was good as following up. Conclusions The clinical history, pathological morphology and immunohistochemistry are very important for diagnosing tumors of haematopoietic and lymphoid tissue in the female productive tract.Resection with chemotherapy is recommended in treatment. The prognosis of lymphoma-like lesion of uterine cervix is good,and should be differentiated from lymphoma.
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Objective To study the clinicopathological features of sarcomatoid hepatocellular carcinoma (SHC).Methods The clinical data of 42 patients with SHC who underwent surgical resection in the Peking University People's Hospital (n =33) and the Department of Pathology of the Peking University Health Science Center (n=9) from January 2008 to May 2017 were retrospectively analyzed.Results The average age was 58.3 (aged 32~84) years;the ratio of male to female was 2.2 ∶ 1;the average diameter of the lesions was 8.2 cm;the median AFP value was 45.2 ng/ml.The median survival time was 10.5 months,the average progression-free survival time was 2.9 months,and the 5-year survival rate was 25.0%.On histopathology,the tumor consisted of various degrees of different differentiated carcinomas with aligned sarcomatoid spindle cells.Immunohistochemical results in the sarcomatoid region expressed both mesenchymal markers and epithelial-derived markers.Conclusions SHC tumors were highly aggressive,with high rates of lymph node metastasis and poor prognosis.The diagnosis of SHC mainly depended on histopathology.Immunohistochemistry was very important for its diagnosis and differential diagnosis.Surgical resection was the treatment modality of choice to achieve prolonged survival time.
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Objective To assess the clinical value for the clinicopathological features of microcystic elongated and fragmented(MELF)invasion in endometrial carcinoma(EEC). Methods The clinicopathological data of 108 cases of endometrial carcinoma with total hysterectomy, bilateral adnexectomy, and pelvic dissection were retrospectively analysis in Peking University People′s Hospital from April 2015 to October 2016. Twenty-five patients with endometrial carcinoma showing MELF invasion pattern were collected. We analyzed retrospectively the association of MELF pattern invasion with clinical pathology data and prognosis of the patients,partial immunohistochemical staining was implemented. MELF invasion was a special invasion pattern and characterized by microcystic, elongated, fragmented(composed of cluster cells)gland in muscular layer. Results The incidence rate was 23.1%(25/108). These patients mean age was (59.3 ± 10.9)years old. Four cases were premenopausal, and 21 were postmenopausal. Abnormal vaginal bleeding was the main clinical presentation. The lesions tend to appear adjacent to the tumor body. Sometimes, it may be appears away from the tumor body in the deep muscle layer. Lymph node metastasis were present in 5 cases(20%,5/25). Thirteen cases(52%,13/25)of them demonstrated lymph vascular space involvement(LVSI). The immunohischemical expression of ER,PR, Ki-67 and galectin-3 showing MELF invasion pattern were weaker than no showing MELF invasion pattern endometrial carcinoma, cktokeratin (CK) was showed diffuse strong positive expression, E-cadherin was moderately positive expression. All 25 cases were followed up for(23.2±5.9)months(14-33 months)after the therapy with no recurrence on metastasis. Conclusions MELF invasion pattern is a special invasion pattern in low-grade EEC. The incidence of LVSI and lymph node metastasis rate in endometrial carcinoma with MELF invasion are significantly increased. The prognosis of MELF invasion pattern may be poor.
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Objective To study the clinicopathological characteristics and diagnosis of hepatic perivascular epithelioid cell tumour (PEComa).Methods Retrospective analysis was made on the clinicopathological and immunohistochemical phenotype of the 9 PEComa cases.Results The average age was 39 years,male to female ratio was 1∶ 8.Tumours were grossly well-circumscribed and solid.The maximum diameter were from 1.0 cm to 9.0 cm,with the average of 3.6 cm.The tomours were of nested architecture and composed of uniform epithelioid cells with clear cytoplasm and round nuclei.A subset of tumours was dominated by spindle cells.Thick-wall blood vessels and fat cells were common.Tumour cells were positive for HMB45,MelanA,and SMA (8/8,7/7,4/4).Some of them were positive for S-100 (4/ 8).All of the 9 cases were negitive for hepatocyte (0/9).Ki-67 index of the tumours were below 10% (9/ 9).All 9 cases were followed up from 3 months to 6 years,all were alive and recurrence free.Conclusion Hepatic PEComa is often seen in adult women with some specific histological patterns and immunophenotypes.Definite diagnosis of PEComa can be made by combining clinicopathological characteristics with a panel of immunohistochemical marks.PEComas grow slowly,often responds to surgical resection and rarely recur.
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Objective@#To evaluate the diagnostic value of fluorescence in situ hybridization (FISH) combined with bronchial brushing cytology for detecting lung cancer.@*Methods@#Centromeric enumeration probes (CEPs) for chromosomes 7, 8 and 17 were used in FISH assay. The combination of FISH and cytology was analyzed in 69 bronchial brushing specimens.@*Results@#The positive rates of CEP7, CEP8 and CEP17 in malignant cases diagnosed by cytology were 50.0%, 80.8% and 65.4%, respectively. CEP8 probe showed significantly higher positive rate than CEP7 (P=0.015). In the samples of suspicious of malignancy, the positive rates of CEP7, CEP8 and CEP17 were 46.6%, 66.7% and 58.8%, respectively. While in atypical cases, the positive rates of these three probes were 20.0%, 33.3% and 25.0%, respectively. There was no statistical difference between suspicious of malignancy and atypical cases (P>0.05) as well as between malignant and suspicious of malignancy (P>0.05). No chromosome aberrations were found in normal cases diagnosed by cytology. The positive rates of these three probes in adenocarcinoma (ADC) were slightly higher than those in squamous cell carcinoma and small cell lung cancer. However, only CEP8 probe showed statistically difference between ADC and small cell lung cancer (P=0.044). The combination of cytology and FISH using any one of the three-probe set (CEP7, CEP8 and CEP17) showed the sensitivity and specificity of 80.3% and 100.0%, while those of cytology were 54.1% and 100.0%, respectively.@*Conclusions@#FISH combined with cytomorphology assisted the cytology diagnosis of suspicious of malignancy and atypical cases. Therefore, it significantly improved the diagnostic sensitivity for lung cancer without sacrificing specificity.