Diagnostic Pathology最新文献

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Clinical analysis of lymphoma with malignant solid tumor simultaneously: a retrospective case series. 淋巴瘤合并恶性实体瘤的临床分析:回顾性病例系列。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-26 DOI: 10.1186/s13000-025-01653-y
Ning Zhu, Yuan Gao, Yu Pan, Liling Song, Yan Yang, Ying Yin, Yunjun Wang, Liyan Zhang, Shishou Wu, Guohua Yu
{"title":"Clinical analysis of lymphoma with malignant solid tumor simultaneously: a retrospective case series.","authors":"Ning Zhu, Yuan Gao, Yu Pan, Liling Song, Yan Yang, Ying Yin, Yunjun Wang, Liyan Zhang, Shishou Wu, Guohua Yu","doi":"10.1186/s13000-025-01653-y","DOIUrl":"10.1186/s13000-025-01653-y","url":null,"abstract":"<p><p>This study aimed to investigate the clinical features and potential pathogenesis of lymphoma complicated with malignant solid tumors. Clinical data from 35 patients treated at Yantai Yuhuangding Hospital between January 2018 and March 2023 were retrospectively analyzed. Among 1726 lymphoma patients, 35 (2.03%) were found to have solid tumors, including 22 males and 13 females, with a median age of 62 years (range: 49-83 years). The lymphoma subtypes included 14 cases of diffuse large B-cell lymphoma (DLBCL), 8 cases of small lymphocytic lymphoma/chronic lymphocytic leukemia (SLL/CLL), 7 cases of marginal zone lymphoma (MZL), 3 cases of peripheral T-cell lymphoma (PTCL), 2 cases of follicular lymphoma (FL), and 1 case of Waldenström macroglobulinemia (WM). The solid tumors included 9 cases of papillary thyroid carcinoma (PTC), 8 cases of colorectal cancer (CRC), 7 cases of lung cancer (LC), 5 cases of gastric cancer (GC), 2 cases of prostate cancer (PCa), and 1 case each of breast cancer (BC), clear cell renal cell carcinoma (ccRCC), pharyngeal squamous cell carcinoma (PSCC), and bladder cancer (BLCA). Lymphoma with solid tumors is rare, often affecting elderly males. Non-Hodgkin's lymphoma, especially DLBCL, was the most common subtype, and PTC was the most frequent solid tumor. Clinicians should focus on these cases to improve diagnosis and treatment.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"54"},"PeriodicalIF":2.4,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12034125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Molecular subtyping of endometrial cancer via a simplified one-step NGS classifier, ARID1A and ZFHX4 mutations help further subclassify CNL/MSI-H patients. 通过简化的一步NGS分类器、ARID1A和ZFHX4突变对子宫内膜癌的分子分型有助于进一步对CNL/MSI-H患者进行亚分。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-25 DOI: 10.1186/s13000-025-01652-z
Qiuli Teng, Zeng Yuan, Yulong Mu, Xinyue Ma, Shuaixin Wang, Chenggong Sun, Linhan Chin, Zhan Huang, Changbin Zhu, Aijun Yin, Ruifen Dong
{"title":"Molecular subtyping of endometrial cancer via a simplified one-step NGS classifier, ARID1A and ZFHX4 mutations help further subclassify CNL/MSI-H patients.","authors":"Qiuli Teng, Zeng Yuan, Yulong Mu, Xinyue Ma, Shuaixin Wang, Chenggong Sun, Linhan Chin, Zhan Huang, Changbin Zhu, Aijun Yin, Ruifen Dong","doi":"10.1186/s13000-025-01652-z","DOIUrl":"https://doi.org/10.1186/s13000-025-01652-z","url":null,"abstract":"<p><strong>Background: </strong>Molecular subtyping has changed the prognostic stratification and therapeutic guidance for patients with endometrial cancer (EC). However, simultaneous application of sanger sequencing and immunohistochemistry under ProMisE criteria may be time- and tissue-consuming. This study attempted to measure subtype-specific biomarkers by one-step next-generation sequencing (NGS) resulting in a shorter turnaround time and less requirement of tissue samples.</p><p><strong>Methods: </strong>FFPE samples from 233 EC patients were retrospectively collected. Overall survival (OS) information was available for 131 patients with a median follow-up of 66 months. Genomic DNA was extracted and subjected to a one-step NGS panel including TP53, POLE and MSI measurement. Further comprehensive genomic analyses were performed on DNA from MSI-H and copy number low (CNL) subtypes.</p><p><strong>Results: </strong>The molecular typing ratio of the 233 patients was 8.15% for POLE subtype, 18.88% for MSI-H subtype, 11.59% for copy number high (CNH) subtype and 61.37% for CNL subtype. The 10-year OS and disease-specific survival (DSS) rate was 100% in POLE subtype, while only 33.51% and 39.69% in CNH subtype. In patients with CNL and CNL/MSI-H subtypes, ARID1A and ZFHX4 mutations were significantly associated with worse prognosis respectively.</p><p><strong>Conclusion: </strong>This simplified one-step NGS panel can effectively subgroup EC patients into four prognostically different subtypes. New biomarkers are able to potentially refine the classification of patients with CNL/MSI-H subtypes into groups with distinct clinical outcomes.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"52"},"PeriodicalIF":2.4,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12023587/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Gastric SMARCA4-deficient undifferentiated tumors: clinicopathological analysis of two cases in a single center. 胃smarca4缺失未分化肿瘤:单中心2例临床病理分析
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-24 DOI: 10.1186/s13000-025-01651-0
Xiaolin Cheng, Shuyue Chen, Xushui Jiang, Tao Li, Hong Zhang, Fengbo Huang, Tianhui Bao
{"title":"Gastric SMARCA4-deficient undifferentiated tumors: clinicopathological analysis of two cases in a single center.","authors":"Xiaolin Cheng, Shuyue Chen, Xushui Jiang, Tao Li, Hong Zhang, Fengbo Huang, Tianhui Bao","doi":"10.1186/s13000-025-01651-0","DOIUrl":"10.1186/s13000-025-01651-0","url":null,"abstract":"<p><strong>Objectives: </strong>Gastric SMARCA4-deficient undifferentiated tumors are rare and have a poor prognosis. We analyzed two cases of gastric SMARCA4-deficient undifferentiated tumors with clinicopathologic characteristics, treatment and flow-up.</p><p><strong>Methods: </strong>Immunohistochemistry was used to evaluate the expression of BRG1 (SAMRCA4), SMARCB1 (INI-1), CKpan, Ki-67, CD3, CD20, CD163, PD-1, and PD-L1 in gastric SMARCA4-deficient undifferentiated tumors. Additionally, the clinical characteristics, imaging features, diagnosis, and treatment were analyzed.</p><p><strong>Results: </strong>Two elderly male patients (69 and 61 years old) with a large ulcerated mass located in the gastric fundus and cardia. Histologically, the tumor is of low adhesion, diffusely infiltrating lamellar growth, without any percentage of epithelial differentiation zones, and with little stromal component. Tumor cells round, oval, a small amount of irregular shape, easy to see mitotic figures. Some of them had obvious nucleoli, and a few had multiple nucleoli. The cytoplasm varies, and some cells are more abundant. Significant vascular and neural invasion. BRG1(SMARCA4) was absent, INI-1 was present, and Ki-67 proliferation index was highly expressed (≥ 80%). The remaining sarcoma-specific markers were negative. In case 1, the epithelial markers were negative and the PD-L1 combined positive score was 5. In case 2, CKpan was weakly expressed in only a dozen cells, and the PDL1 CPS was 10. The two patients received chemotherapy and anti-PD1 immunotherapy after radical gastrectomy for gastric cancer. The postoperative follow-up time of the two patients was 16 (case 1) and 3 months (case 2), respectively. The general condition was good, no recurrence or metastasis was observed, and the plasma tumor markers were in the normal range.</p><p><strong>Conclusions: </strong>Large SMARCA4-deficient tumors are more likely to have massive necrosis on the surface, leading to negative biopsy results. This tumor has a diffuse lamellar growth and needs to be differentiated from a variety of tumors with similar morphology, such as lymphoma, malignant melanoma, neuroendocrine carcinoma and undifferentiated sarcoma. The tumor cells were negative or only slightly positive for CKpan increases the difficulty of pathological diagnosis of this disease. However, loss of BRG1 (SMARCA4) expression can confirm the diagnosis. Chemotherapy combined with anti-PD1 treatment may have potential benefits in the management of gastric SMARCA4-deficient undifferentiated tumors. However, given the rarity of these tumors and the limited number of cases in our study, further research with larger cohorts is needed to validate these preliminary results.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"51"},"PeriodicalIF":2.4,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12020037/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143956645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High B7-H3 protein expression in Medulloblastoma is associated with metastasis and unfavorable patient outcomes. 髓母细胞瘤中B7-H3蛋白的高表达与转移和不良的患者预后相关。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-23 DOI: 10.1186/s13000-025-01645-y
Patrícia Fontão, Gustavo Ramos Teixeira, Daniel Antunes Moreno, Rui Ferreira Marques, João Norberto Stavale, Suzana Maria Fleury Malheiros, Carlos Almeida Júnior, Bruna Minniti Mançano, Rui Manuel Reis
{"title":"High B7-H3 protein expression in Medulloblastoma is associated with metastasis and unfavorable patient outcomes.","authors":"Patrícia Fontão, Gustavo Ramos Teixeira, Daniel Antunes Moreno, Rui Ferreira Marques, João Norberto Stavale, Suzana Maria Fleury Malheiros, Carlos Almeida Júnior, Bruna Minniti Mançano, Rui Manuel Reis","doi":"10.1186/s13000-025-01645-y","DOIUrl":"https://doi.org/10.1186/s13000-025-01645-y","url":null,"abstract":"<p><strong>Background: </strong>Medulloblastoma (MB) is the most common malignant brain tumor in children. Although the 5-year survival rate is approximately 70-80%, the current standard treatment results in severe and long-term side effects. The search for new anticancer immunotherapeutic targets has identified B7-H3 as a promising candidate in various solid tumors. However, the role of B7-H3 in MB remains unclear, and studies reporting its protein expression and association with clinicopathological characteristics are still limited.</p><p><strong>Methods: </strong>In this study, B7-H3 protein expression was evaluated by immunohistochemistry in seven non-tumor samples and 43 molecularly characterized MB tissues. Its expression profile was correlated with B7-H3 (CD276) mRNA levels, which were previously determined by nCounter, as well as with the patients' clinical features.</p><p><strong>Results: </strong>Only 14.3% (1/7) of non-tumor brain and cerebellum tissues showed B7-H3 positivity, whereas 95.6% (41/43) of the MB samples expressed this protein at distinct levels. B7-H3 was found in the cytoplasm and on the membrane of cancer cells. A significant positive correlation was observed between CD276 mRNA and B7-H3 protein levels. Moreover, high expression of B7-H3 protein was associated with worse overall survival and the presence of metastasis at diagnosis.</p><p><strong>Conclusions: </strong>This is the first study to associate CD276 mRNA and B7-H3 protein levels in MB, revealing a significant positive correlation. We observed that B7-H3 was overexpressed in MB compared to non-tumor brain tissue. High B7-H3 expression was associated with a worse outcome and with the presence of metastasis at diagnosis.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"49"},"PeriodicalIF":2.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
At the crossroad between Ewing sarcoma and neuroblastoma: a report of two cases of Ewing sarcoma with post treatment neuroblastoma-like differentiation. 尤因肉瘤与神经母细胞瘤的十字路口:尤因肉瘤治疗后出现神经母细胞瘤样分化2例报告。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-23 DOI: 10.1186/s13000-025-01649-8
Giorgia Arcovito, Giacomo Aringhieri, Virna Zampa, Luca Coccoli, Lorenzo Andreani, Alessandro Franchi
{"title":"At the crossroad between Ewing sarcoma and neuroblastoma: a report of two cases of Ewing sarcoma with post treatment neuroblastoma-like differentiation.","authors":"Giorgia Arcovito, Giacomo Aringhieri, Virna Zampa, Luca Coccoli, Lorenzo Andreani, Alessandro Franchi","doi":"10.1186/s13000-025-01649-8","DOIUrl":"https://doi.org/10.1186/s13000-025-01649-8","url":null,"abstract":"<p><strong>Background: </strong>Ewing sarcoma (ES) is the second most frequent sarcoma of bone, often affecting young patients and pursuing an aggressive clinical course. Among therapeutic choices, radio- and chemotherapy are employed in neoadjuvant setting, and they yield variable histological changes in neoplastic tissue, which mainly include necrosis and fibrosis. Cytodifferentiation is seldom observed in pediatric tumors such as nephroblastoma and rhabdomyosarcoma following treatment. Nevertheless, it represents an extremely rare phenomenon in ES.</p><p><strong>Case presentation: </strong>In this study we present the clinico-pathologic and molecular features of two cases of ES undergoing neuroblastoma-like differentiation after treatment. Both tumors were primarily located in bone and presented the histologic and immunohistochemical features of classic ES in needle biopsies. They were treated with standard chemotherapy protocols followed by surgical resection. The resection specimens of the primary tumor of patient 1 and pleural metastases of patient 2 presented foci of eosinophilic fibrillary stroma resembling neuropil and containing cellular elements with wide granular eosinophilic cytoplasm, eccentric nuclei containing vesicular chromatin and prominent nucleoli, reminiscent of ganglion cells. These cells were positive for chromogranin, synaptophysin and CD56, while CD99 was negative. Molecular confirmation of EWSR1 rearrangement was provided in both cases by next generation sequencing and FISH analysis.</p><p><strong>Conclusions: </strong>Evidence of neural differentiation in ES unravels interesting hints about its controversial histogenesis. Furthermore, awareness of this event must be increased to avoid misdiagnosis with neuroblastoma, which shows significant morphological overlap.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"50"},"PeriodicalIF":2.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016484/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploration of risk factors for the occurrence and recurrence of papillary thyroid carcinoma with Hashimoto's thyroiditis based on next-generation sequencing. 基于新一代测序的乳头状甲状腺癌合并桥本甲状腺炎发生和复发的危险因素探讨。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-23 DOI: 10.1186/s13000-025-01639-w
Wanxue Zhang, Bin Liu
{"title":"Exploration of risk factors for the occurrence and recurrence of papillary thyroid carcinoma with Hashimoto's thyroiditis based on next-generation sequencing.","authors":"Wanxue Zhang, Bin Liu","doi":"10.1186/s13000-025-01639-w","DOIUrl":"https://doi.org/10.1186/s13000-025-01639-w","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the risk factors for the occurrence and recurrence of Hashimoto's thyroiditis (HT) combined with papillary thyroid carcinoma (PTC) using Next-Generation Sequencing (NGS).</p><p><strong>Methods: </strong>A total of 249 patients who underwent thyroid cancer surgery at the First Affiliated Hospital of Anhui Medical University from October 2020 to December 2020 were included in this study. They were divided into two groups: HT and non-HT (NHT) groups based on whether they were diagnosed with HT or not. Clinical data, NGS results, and 4-year follow-up recurrence were collected and analyzed using binary logistic regression and COX regression analysis to identify factors influencing the occurrence and recurrence of PTC with HT.</p><p><strong>Results: </strong>Patients in the HT group had a higher percentage of low age, multifocality, high TgAb, and RET rearrangement compared to the NHT group. However, they had a lower rate of extrathyroidal extension (ETE), lymph node metastasis (LNM), and BRAF mutation (P < 0.05). Among patients with RET rearrangement in the HT group, there was a higher rate of LNM and recurrence (P < 0.05). Patients with BRAF mutation in the HT group were more likely to be male and have multifocal tumors (P < 0.05). Binary logistic regression analysis showed that multifocality, RET rearrangement, low age, and lymph node negativity were risk factors for HT combined with PTC. Univariate COX analysis revealed that multifocality, LNM, ETE, recurrence risk stratification, TSH, RET rearrangement, and the interaction between RET rearrangement and Hashimoto's effect were risk factors for recurrence after PTC. Multifactorial COX regression analysis showed that ETE and recurrence risk stratification were risk factors for recurrence after PTC surgery.</p><p><strong>Conclusions: </strong>Multifocality, high TgAb, low age, and lymph node negativity can assist in the preoperative diagnosis of HT combined with PTC. BRAF mutations are less common in HT combined with PTC but do not significantly affect recurrence. Patients with RET rearrangement in addition to HT have a higher risk of recurrence, and special attention should be paid to intraoperative clearance in these patients.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"48"},"PeriodicalIF":2.4,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12016337/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990504","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Family adenomatous polyposis come across dome type adenocarcinoma: a case report and literature review. 家族性腺瘤性息肉病偶遇圆顶型腺癌1例报告及文献复习。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-17 DOI: 10.1186/s13000-025-01633-2
Ying-Ying Chang, Xiao-Long Zhang, Yao-Hui Wang, Ting-Sheng Ling
{"title":"Family adenomatous polyposis come across dome type adenocarcinoma: a case report and literature review.","authors":"Ying-Ying Chang, Xiao-Long Zhang, Yao-Hui Wang, Ting-Sheng Ling","doi":"10.1186/s13000-025-01633-2","DOIUrl":"https://doi.org/10.1186/s13000-025-01633-2","url":null,"abstract":"<p><p>Dome-type carcinoma (DC), also referred as Gut-associated lymphoid tissue (GALT) carcinoma, is a rare variant of colorectal adenocarcinoma which has been seldomly reported up to now. We report a case of a DC lesion developed in a 33-year-old male diagnosed with family adenomatous polyposis (FAP). A 1.5 × 1.5 cm well-demarcated lesion exhibited a 0-Is + IIc figure was detected near the anastomotic stoma during regular colonoscopic polypectomy. Surgical specimen showed well-differentiated adenocarcinoma consisted of dilated cystic glands and the lymphoid stroma with reactive germinal centers exhibited a destructive manner of infiltration into SM2 level. The immunohistochemical findings revealed MUC1 positive but MUC2 negative of the carcinomas epithelial which retained all the 4 mismatch repair proteins (MMRs) (MLH1, PMS2, MSH2, and MSH6) and was negative for EBV-encoded small RNA-1 (EBER). Considered a rare category of colorectal adenocarcinoma, more cases will help uncover the nature of GALT/dome-type carcinoma. Clinicians and pathologists should be aware of recognizing this special type of carcinoma and making necessary differential diagnostics.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"47"},"PeriodicalIF":2.4,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004612/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A case of phosphoglyceride crystal deposition disease in the maxilla. 上颌骨甘油三酯晶体沉积病1例。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-16 DOI: 10.1186/s13000-025-01641-2
Emi Saitou, Takaaki Sano, Mai Seki, Takahiro Yamaguchi, Tetsunari Oyama, Satoshi Yokoo
{"title":"A case of phosphoglyceride crystal deposition disease in the maxilla.","authors":"Emi Saitou, Takaaki Sano, Mai Seki, Takahiro Yamaguchi, Tetsunari Oyama, Satoshi Yokoo","doi":"10.1186/s13000-025-01641-2","DOIUrl":"https://doi.org/10.1186/s13000-025-01641-2","url":null,"abstract":"<p><strong>Background: </strong>Phosphoglyceride crystal deposition disease (PCDD) is a rare disorder in which phosphoglyceride crystals accumulate in soft tissues and bones. It tends to occur years after surgery, trauma, or repeated injections.</p><p><strong>Case presentation: </strong>An 81-year-old woman was referred to our department because of swelling of the left maxillary gingiva. The left maxillary second molar had been extracted more than 10 years earlier. Surgical biopsy was performed, and histopathological findings indicated a foreign body granuloma. The patient underwent tumorectomy, during which we found a yellowish tumor. The pathologic findings were the characteristic crystal deposition, fibril-like crystals, and giant cells around the crystals. Gold hydroxamic acid staining revealed positivity for the crystals. The final pathological diagnosis was PCDD. The patient had no further symptoms and no disease recurrence.</p><p><strong>Conclusions: </strong>It is relatively easy to diagnose PCDD from the characteristic histopathological findings; however, it may be overlooked by pathologists who are unaware of the disease. T2-weighted magnetic resonance imaging of PCDD in the jawbone has depicted low intensity, a finding that differs from those of ordinary cancers and odontogenic tumors. The oral cavity often undergoes surgical procedures, and PCDD may form, and grow.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"45"},"PeriodicalIF":2.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004582/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991284","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The ability of anexelekto (AXL) expression and TERT promoter mutation to predict radioiodine-refractory differentiated thyroid carcinoma. anexelekto (AXL)表达和TERT启动子突变预测放射性碘难治性分化甲状腺癌的能力。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-16 DOI: 10.1186/s13000-025-01643-0
Hasrayati Agustina, Tutik Nur Ayni, Yohana Azhar, Erwin Affandi Soeriadi, Bethy Suryawathy Hernowo
{"title":"The ability of anexelekto (AXL) expression and TERT promoter mutation to predict radioiodine-refractory differentiated thyroid carcinoma.","authors":"Hasrayati Agustina, Tutik Nur Ayni, Yohana Azhar, Erwin Affandi Soeriadi, Bethy Suryawathy Hernowo","doi":"10.1186/s13000-025-01643-0","DOIUrl":"https://doi.org/10.1186/s13000-025-01643-0","url":null,"abstract":"<p><strong>Background: </strong>Differentiated thyroid carcinoma (DTC) generally has a favourable prognosis with standard treatments; however, the risks of local recurrence and distant metastases remain a concern, affecting a substantial proportion of patients. Radioactive iodine (RAI) refractoriness further complicates DTC management, leading to substantially reduced survival rates. In this study, we aimed to identify anexelekto (AXL) expression and TERT promoter mutation as potential predictors of RAI-refractory DTC.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of 81 DTC patients who underwent thyroidectomy and received at least two courses of RAI therapy. After a median follow-up period of 30 months (range: 6-60 months), therapy response was categorized as nonrefractory or refractory. AXL expression and TERT promoter mutation were evaluated in all patients to discern any associations with the development of RAI refractoriness.</p><p><strong>Results: </strong>The overall prevalence of refractory RAI in DTC patients was 44.4% (36/81). AXL expression was high in 30/36 patients (83.3%) with RAI-refractory DTC and negative/low in 24/45 patients (53.3%) with non-RAI-refractory DTC (OR adjusted: 44.98, CI 95%: 1.41-1439.03, p = 0.031). TERT promoter mutation occurred in 21/36 (58.3%) RAI-refractory DTCs and in 2/45 (4.4%) non-RAI-refractory DTCs (OR adjusted: 10.95, CI 95%: 1.06-112.92, p = 0.044). Despite similar age, sex, and histological type distributions between the RAI-refractory and non-RAI-refractory groups, significant differences in clinicopathological characteristics emerged. Multivariate analysis confirmed that aggressive subtype, elevated AXL expression, and TERT promoter mutation independently correlated with RAI-refractory status.</p><p><strong>Conclusions: </strong>Our predictive model highlights the association of elevated AXL expression, TERT promoter mutation, and an aggressive tumour subtype with the risk of RAI refractoriness. This information has the potential to aid in making informed treatment decisions. Furthermore, AXL is a potential therapeutic target for RAI-refractory disease.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"46"},"PeriodicalIF":2.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12004822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multiple pulmonary mucinous cystadenoma with Ovarian-like stroma: a case report. 多发性肺粘液囊腺瘤伴卵巢样间质1例。
IF 2.4 3区 医学
Diagnostic Pathology Pub Date : 2025-04-16 DOI: 10.1186/s13000-025-01642-1
Lei Wang, Xieraili Wumener, Wenting Huang
{"title":"Multiple pulmonary mucinous cystadenoma with Ovarian-like stroma: a case report.","authors":"Lei Wang, Xieraili Wumener, Wenting Huang","doi":"10.1186/s13000-025-01642-1","DOIUrl":"https://doi.org/10.1186/s13000-025-01642-1","url":null,"abstract":"<p><strong>Background: </strong>Pulmonary mucinous cystadenoma with ovarian-like stroma has rarely been reported. To the best of our knowledge, only two prior cases have been reported to date.</p><p><strong>Case presentation: </strong>A 47-year-old female underwent an <sup>18</sup>F-fluorodeoxyglucose(FDG) positron emission tomography/computed tomography(PET/CT) scan, revealig multiple solid and cystic nodules with mild FDG uptake in both lungs. The tumor exhibited an adenoid or papillary structure, covered by monolayer mucous columnar epithelium and pseudostratified ciliated columnar epithelium, with abundant mesenchymal cells. Nuclei were oval, fusiform, or polygonal, resembling ovarian-like stroma, and showed mild nuclear atypia without atypical mitoses. Immunohistochemical analysis indicated: CK (epithelial cell +), P63 (epithelial basal cells +), CK7 (epithelial cell +), CK20 (-), TTF-1 (epithelial cell +), napsin A (partial epithelial cell +), α-inhibin (-), S100 (-), SMA (-), EMA (epithelial cell +), CEA (-), WT-1 (mesenchymal cells +), ER (mesenchymal cells +), P16 (partial mesenchymal cells +), CD10 (mesenchymal cells +), and Ki-67 (2% +).</p><p><strong>Conclusion: </strong>Pulmonary mucinous cystadenoma with ovarian-like stroma is rare, and its pathological nature and classification are not yet fully understood.</p>","PeriodicalId":11237,"journal":{"name":"Diagnostic Pathology","volume":"20 1","pages":"44"},"PeriodicalIF":2.4,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12001701/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143964245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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