Ask about this productRelated genes to: PAX8 antibody
- Gene:
- PAX8 NIH gene
- Name:
- paired box 8
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 2q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-11-16
- Date modifiied:
- 2017-07-07
Related products to: PAX8 antibody
Related articles to: PAX8 antibody
- Autosomal dominant polycystic kidney disease (ADPKD) arises from mutations in polycystin-1/ or polycystin-2/ that induce injury-repair pathways and dysregulate cAMP and Yes-associated protein (YAP) signaling to promote cyst growth. Cystic kidneys with elevated cAMP levels also develop in mouse embryos lacking the BicC family RNA-binding protein 1 (Bicc1). To prevent embryonic lethality, we flanked exon 4 with sites for conditional knockout (cKO) in renal tubules using inducible Pax8-rtTA-driven Cre in adults, or distal segment-specific deletion using Ksp-Cre. Whereas -deficient adult kidneys formed relatively few cysts within six months, distal nephron-specific deletion induced aggressive PKD-like disease. Automated renal tubule and cyst quantification (ARTCyQ), a novel machine-learning pipeline to analyze immunofluorescent stainings, revealed increasing ambiguity in nephron segment identity and activation of ADPKD-related pathways, including YAP signaling. Accordingly, transcriptional profiling revealed overlap with PKD and injury-repair signatures, supporting a role for Bicc1 in polycystin signaling. - Source: PubMed
Publication date: 2026/08/03
Gagnieux CélineBernet FlorianKroese LonaGuiet RomainBurns AllisonCombe RoyHuijbers IvoConstam Daniel BRothé Benjamin - Steroid cell tumours of the ovary, not otherwise specified (SCT-NOSs), are rare sex cord-stromal neoplasms with a poorly characterised molecular landscape, in which only exceptional mutations have so far been reported and no recurrent driver alteration is firmly established. A better characterisation of their molecular spectrum has clinical significance for accurate diagnostic categorisation of ovarian sex cord-stromal tumours and for the identification of potentially targetable pathway alterations in this rare entity. We report two consecutive SCT-NOSs of the right ovary, retrieved from the archives of the Department of Pathology of the Hôpital Universitaire de Bruxelles and of Curepath. Both underwent comprehensive sex cord-stromal and differential immunohistochemistry and targeted next-generation sequencing on a 168-gene panel with a mean coverage of 2690× (Case 1) and a 17-gene panel (Case 2) (MGI DNBSEQ-T7 for Case 1; Ion GeneStudio S5 for Case 2). A 56-year-old post-menopausal woman (Case 1) and a 50-year-old immunosuppressed woman with a history of renal transplantation and lymphoma (Case 2) both presented with rapidly progressive virilisation. The two right ovarian tumours (20 to 25 mm, no Reinke crystals) displayed an unambiguous sex cord-stromal immunophenotype (α-inhibin, calretinin, SF-1 and Melan-A positive; CD10, WT1, EMA, AE1/AE3 and PAX8 negative), with aberrant nuclear and cytoplasmic β-catenin staining. Sequencing identified a pathogenic c.133T>C p.(Ser45Pro) variant in Case 1 and a pathogenic c.95A>T p.(Asp32Val) variant in Case 2, with wild-type in both. Three of the four molecularly characterised -mutated SCT-NOSs converge on the two principal GSK-3β phosphorylation residues of β-catenin, identifying Wnt/β-catenin-pathway dysregulation as a potentially recurrent event and providing additional evidence for the involvement of the Wnt/β-catenin pathway in an emerging molecular subset of SCT-NOS. In a tumour with the canonical sex cord-stromal immunophenotype, an exon 3 hotspot mutation should not be regarded as evidence against the diagnosis of SCT-NOS and may help define a distinct molecular subset. - Source: PubMed
Publication date: 2026/08/05
Bouri SarahLavis PhilomèneNoël Jean-Christophe - The most common sites of breast cancer metastasis include the bone, lung, liver, and brain. Metastasis to the uterine cervix and endometrium is uncommon and can mimic primary gynecologic malignancies, leading to substantial diagnostic challenges. The authors have reported a 56-year-old postmenopausal woman with metastatic invasive mammary carcinoma of the left breast, including biopsy-confirmed liver metastasis, who presented after a syncopal event following an episode of heavy vaginal bleeding. Following her presentation, she underwent cervical and endometrial biopsies. Cervical biopsy revealed scattered discohesive tumor cells positive for GATA3, mammoglobin, TRPS1, AE1/3, and CAM5.2 and negative for PAX8, which were consistent with metastatic breast carcinoma. Endometrial biopsy showed cohesive nests of atypical carcinoma with diffuse p16, p63, and CK5/6 positivity and negative staining for mammoglobin, TRPS1, SOX10, and PAX8, initially raising concern for a human papillomavirus-associated squamous cell carcinoma. Following multidisciplinary evaluation, it was established that these features represented metastatic breast human papillomavirus-associated squamous cell carcinoma to the endometrium rather than a new primary gynecologic malignancy. This case highlighted the importance of considering metastatic disease in patients with breast cancer presenting with abnormal uterine bleeding and demonstrated the value of multidisciplinary evaluation in determining an accurate diagnosis. - Source: PubMed
Publication date: 2026/08/12
Basmajian KarinaThai DannyGajanayake HansiKhan ZiadSaadat Siamak - Hepatic adrenal rest tumours (HARTs) are rare benign lesions arising from ectopic adrenocortical tissue. Their radiological resemblance to hepatocellular carcinoma (HCC) presents a significant diagnostic challenge. We report a case of HART in a woman in her 60s with chronic hepatitis B (CHB) without cirrhosis who underwent surgical resection following a preoperative diagnosis of HCC. The patient, who was of Filipino descent, was being treated with entecavir and underwent a routine six-monthly HCC surveillance, during which a lesion of concern was identified on ultrasound. Liver synthetic function and serum transaminases were within normal limits, hepatitis B viral load was undetectable, and serum alpha-fetoprotein was normal. MRI demonstrated a 14-mm fat-containing lesion in segment VI according to the Couinaud classification, exhibiting homogeneous arterial phase hyperenhancement and portal venous washout, findings considered radiologically consistent with HCC. Following multidisciplinary review, she underwent laparoscopic hepatectomy. Histopathological examination revealed a well-circumscribed lesion composed of compact nests of uniform cells with regular round nuclei and finely vacuolated clear cytoplasm. Immunohistochemistry demonstrated positivity for inhibin and Melan-A, with negative staining for PAX8, HepPar-1, AE1/AE3, S100, HMB45, synaptophysin, and chromogranin, establishing the diagnosis of HART. This case highlights the difficulty in distinguishing HART from HCC based on imaging alone, particularly in patients with established HCC risk factors. Recognition of HART as a potential differential diagnosis for hypervascular hepatic lesions may support more informed multidisciplinary evaluation and management. - Source: PubMed
Publication date: 2026/07/11
Thio JoelMouline OmarWillemse Sophie - Endoscopic ultrasound is a minimally invasive diagnostic technique that combines endoscopic and ultrasonographic imaging to evaluate gastrointestinal and adjacent tissue lesions. This report describes its use in the diagnosis of mesorectal metastases from renal clear cell carcinoma. - Source: PubMed
Publication date: 2026/03/31
Kahn Nicole MarieDefanti Mayra FlorenciaCarlino Yanina Gabriela