Diagnostic pathology

Diagn Pathol · ISSN (e) 1746-1596 · 73 papers in corpus
review 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…

review 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…

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

BACKGROUND: Retroperitoneal 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 lipomato…

review 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…

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

BACKGROUND: Abnormal 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 …

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

BACKGROUND: 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. CASE PRESENTATION: A 47-year-old female underwent an 18F-fluorodeo…

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

BACKGROUND: Benign 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 met…

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

BACKGROUND: Müllerian 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 screen…

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

OBJECTIVE: To explore the relative sensitivity of different methods for detecting cervical glandular lesions. METHODS: A total of 225 patients with cervical glandular lesions diagnosed from January 2018 to February 2023 were retrieved from…

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

BACKGROUND: Ovarian 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 dete…

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

BACKGROUND: Clear 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 aberratio…

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

BACKGROUND: Uterine 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…

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

BACKGROUND: Mucinous 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…

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

BACKGROUND: The 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. METHODS: Ninetee…

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

BACKGROUND: PTEN 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 recto…

review 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…

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

BACKGROUND: Hyperparathyroidism-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 present…

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: …

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

BACKGROUND: Vulvar 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 origi…

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

BACKGROUND: Impaired 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_00194…

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

BACKGROUND: Ovarian 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 o…

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

BACKGROUND: Uterine 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 primar…

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

BACKGROUND: Lymphoepithelioma-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 lymphoepitheliom…

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

BACKGROUND: Mesonephric-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 adenoca…

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

BACKGROUND: Primary ovarian mucinous tumors with mural nodules are very rare. The histogenesis of the mural nodules remains unclear. METHODS: We investigated the clincopathological and molecular features in 3 cases with mural nodules. RES…