Diagnostic pathology

Diagn Pathol · ISSN (e) 1746-1596 · 73 papers in corpus
2025
doi:10.1186/s13000-025-01656-9 ·PMID:40420135

MEIS1::NCOA1/2 fusions have been identified in spindle cell tumors of the gynecologic and genitourinary tracts, as well as in two cases of intraosseous spindle cell rhabdomyosarcomas. These tumors typically exhibit an infiltrative growth pa…

2025
doi:10.1186/s13000-025-01741-z ·PMID:41372966

Seronegative spondyloarthropathy (SpA) and Takayasu's arteritis (TA) are distinct chronic inflammatory conditions with autoimmune characteristics. While both conditions are relatively common, their concurrent occurrence is rare. This case r…

2025
doi:10.1186/s13000-025-01619-0 ·PMID:40016768

BackgroundRetroperitoneal dedifferentiated liposarcoma is a rare, aggressive malignancy, characterized by high rates of recurrences and the potential for metastasis. On imaging, these tumors typically present as a solid mass with lipomatous…

2025
doi:10.1186/s13000-025-01633-2 ·PMID:40247408

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-ol…

2025
doi:10.1186/s13000-025-01717-z ·PMID:41214795

BackgroundAbnormal uterine bleeding (AUB) is a prevalent clinical concern, particularly in women approaching or beyond menopause. With a myriad of possible etiologies ranging from benign hyperplasia to malignant transformations, accurate di…

2025
doi:10.1186/s13000-025-01642-1 ·PMID:40241216

BackgroundPulmonary 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.Case presentationA 47-year-old female underwent an 18F-fluorodeoxygluc…

2024
doi:10.1186/s13000-023-01427-4 ·PMID:38172926

BackgroundBenign metastasizing leiomyoma (BML) is a rare disease with an unknown etiopathogenesis that mostly affects middle-aged women with uterine leiomyoma. Many metastatic nodules outside the uterus characterize the condition. The metas…

2024
doi:10.1186/s13000-024-01477-2 ·PMID:38570882

BackgroundMüllerian adenosarcoma, a rare malignancy, presents diagnostic and therapeutic challenges. In this study, we conducted an analysis of the clinicopathological characteristics of 22 adenosarcomas, with a particular focus on screenin…

2024
doi:10.1186/s13000-023-01428-3 ·PMID:38279171

ObjectiveTo explore the relative sensitivity of different methods for detecting cervical glandular lesions.MethodsA total of 225 patients with cervical glandular lesions diagnosed from January 2018 to February 2023 were retrieved from the p…

2024
doi:10.1186/s13000-024-01510-4 ·PMID:38879528

BackgroundOvarian clear cell carcinoma (OCCC), well known for its chemoresistance to platinum-based chemotherapy, exhibited a good response in clinical trials of anti-PD-1/PD-L1 inhibitors. By assessing PD-L1 expression, we sought to determ…

2023
doi:10.1186/s13000-023-01304-0 ·PMID:36707859

BackgroundClear cell (hemangioblastoma-like) stromal tumor of the lung (CCSTL) is a rare pulmonary neoplasm. Recently, 9 cases of CCSTL harboring the YAP1-TFE3 gene fusion have been described, and it has been suggested that this aberration …

2023
doi:10.1186/s13000-022-01279-4 ·PMID:36639698

BackgroundUterine adenosarcoma is a rare malignant tumor that accounts for 8% of all uterine sarcomas, and less than 0.2% of all uterine malignancies. However, it is frequently misdiagnosed in clinical examinations, including pathological d…

2023
doi:10.1186/s13000-023-01340-w ·PMID:37081552

BackgroundMucinous carcinoma (MC) is a histological subtype of ovarian cancer that has a worse prognosis at advanced stages than the most prevalent histological subtype, high-grade serous carcinomas. Invasive patterns have been recognized a…

2023
doi:10.1186/s13000-023-01419-4 ·PMID:38031157

BackgroundThe study of pathologic diagnosis of placental TB is rare. The aim of this study is analyzing the pathomorphological characteristics of tuberculosis (TB) placenta during pregnancy and its clinical significance.MethodsNineteen case…

2023
doi:10.1186/s13000-023-01331-x ·PMID:37016356

BackgroundPTEN hamartoma tumour syndrome (PHTS) is a rare hereditary disorder caused by germline pathogenic mutations in the PTEN gene. This study presents a case of PHTS referred for genetic evaluation due to multiple polyps in the rectosi…

2022
doi:10.1186/s13000-022-01258-9 ·PMID:36253781

Ovarian fibroma is the most common benign pure stromal tumor. It has no specific clinical manifestation, most of which are pelvic or adnexal masses. 10-15% of cases with hydrothorax or ascites, after tumor resection, hydrothorax and ascites…

2022
doi:10.1186/s13000-022-01248-x ·PMID:36153594

BackgroundHyperparathyroidism-Jaw Tumor (HPT-JT) is caused by inactivating germline mutations of CDC73. This hereditary disease can present with a range of symptoms. Jaw ossifying fibroma (OF) is one of the most important clinical presentat…

other 2022
doi:10.1186/s13000-022-01269-6 ·PMID:36320040

BACKGROUND: Clear cell adenocarcinoma of the lower urinary tract (CCACLUT) is a rare primary malignant neoplasm with heterogenous morphology. There is a paucity of data in the literature regarding its immunohistochemical profile. METHODS: …

2022
doi:10.1186/s13000-022-01268-7 ·PMID:36307835

BackgroundVulvar cancer is a rare disease, accounting for approximately 5% of gynecological malignancies. Primary adenocarcinoma of intestinal-type of the vulva or its precancerous lesion is extremely rare, and details regarding its origin,…

2021
doi:10.1186/s13000-021-01104-4 ·PMID:33993878

BackgroundImpaired endometrial receptivity is a major reason for embryo implantation failure. There's a paucity of information regarding the role of circRNAs on endometrial receptivity. Here, we investigated the function of hsa_circ_001946 …

2021
doi:10.1186/s13000-021-01071-w ·PMID:33541386

BackgroundOvarian clear cell carcinoma (OCCC) is the second subtype of ovarian epithelial carcinoma reported to be closely related to Lynch syndrome (LS). ARID1A mutation is an important pathogenetic mechanism in OCCC that leads to loss of …

2020
doi:10.1186/s13000-020-01036-5 ·PMID:32972432

BackgroundUterine adenosarcoma, a rare uterine tumor subtype, is a biphasic tumor consisting of epithelial and mesenchymal elements. To date, there is no research comparing the histopathological features and immunohistochemistry of primary …

2020
doi:10.1186/s13000-020-01035-6 ·PMID:32967689

BackgroundLymphoepithelioma-like carcinoma is a rare distinctive variant of liver cancer with unique epidemiological and pathological characteristics, characterized by dense lymphocyte infiltration. It can be divided into lymphoepithelioma-…

2020
doi:10.1186/s13000-020-01012-z ·PMID:32693840

BackgroundMesonephric-like adenocarcinoma (M-LAC) is a rare, recently described tumor occurring in the uterine corpus and ovary, which shares the same morphological and immunohistochemical features with the more common mesonephric adenocarc…

2020
doi:10.1186/s13000-020-00956-6 ·PMID:32290854

BackgroundPrimary ovarian mucinous tumors with mural nodules are very rare. The histogenesis of the mural nodules remains unclear.MethodsWe investigated the clincopathological and molecular features in 3 cases with mural nodules.ResultsPati…