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    GENE:

    PAX8 (Paired box 8)

    i
    Other names: PAX8, Paired box 8
    1d
    Mullerian-Type Clear Cell Carcinoma in Late Metastasis of Testicular Teratoma: First Report of a Unique Association. (PubMed, Int J Surg Pathol)
    A component of teratoma was also present. We believe this to be the first report of such a unique association.
    Journal
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    TNFRSF8 (TNF Receptor Superfamily Member 8) • WT1 (WT1 Transcription Factor) • GPC3 (Glypican 3) • NKX2-1 (NK2 Homeobox 1) • MME (Membrane Metalloendopeptidase) • SALL4 (Spalt Like Transcription Factor 4) • PAX8 (Paired box 8)
    2d
    Cytopathology of Sister Mary Joseph nodules: the Johns Hopkins experience. (PubMed, J Am Soc Cytopathol)
    SMJN in current practice remains predominantly metastatic adenocarcinoma, most often gastrointestinal or gynecologic in origin. However, rare entities-including mesothelioma, melanoma, and lymphoma-underscore the need for a broad diagnostic differential. Fine-needle aspiration offers a rapid, minimally invasive diagnostic bridge and reinforces that the umbilicus remains a valuable clinical marker of an often occult malignancy.
    Journal
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    WT1 (WT1 Transcription Factor) • CDX2 (Caudal Type Homeobox 2) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8)
    8d
    NOX4-derived oxidative DNA damage impairs thyroid differentiation through an epigenetic mechanism in BRAF-mutated radioactive iodine refractory papillary thyroid cancer cells. (PubMed, Int J Biol Sci)
    Compared to normal tissue an increased expression of NOX4, OGG1, MSH2/MSH6 proteins and phospho-Smad3 was found in RAI Refractory BRAFV600E mutated tumors. Collectively, our findings reveal a mechanistic basis for NOX4's role in thyroid dedifferentiation.
    Journal
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    BRAF (B-raf proto-oncogene) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • DNMT1 (DNA methyltransferase 1) • TGFB1 (Transforming Growth Factor Beta 1) • OGG1 (8-Oxoguanine DNA glycosylase) • NOX4 (NADPH Oxidase 4) • PAX8 (Paired box 8) • SMAD3 (SMAD Family Member 3)
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    BRAF V600E • BRAF mutation • BRAF V600
    11d
    Postpartum-Onset Dermatomyositis Presenting With Malignant Pleural Effusion: A Case Report. (PubMed, Cureus)
    The patient was started on prednisolone and azathioprine, which significantly improved her DM symptoms...Postpartum-onset DM presenting with malignant pleural effusion is rare and may signal an occult malignancy. This case highlights the importance of early cancer screening in similar presentations, as well as the need for a coordinated, multidisciplinary approach to optimize patient management and outcomes.
    Journal • Pleural effusion
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    PAX8 (Paired box 8)
    14d
    Various genetic alterations observed in both benign and malignant oncocytic (Hürthle cell) neoplasms of the thyroid. (PubMed, Cytojournal)
    However, notably, certain mutations were exclusive to specific groups, such as B-Raf proto-oncogene, serine/threonine kinase (BRAF), anaplastic lymphoma kinase/echinoderm microtubule-associated protein-like 4 (ALK/EML4), and paired box 8 - peroxisome proliferator activator receptor gamma (PAX8-PPARG) in OPTCs or EIF1AX in OCs. Importantly, only 3.6% (1/28) of malignant OPTC/ONs were tested negative on molecular analysis, suggesting that ONs with negative molecular test results are more likely to be benign than malignant.
    Journal
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    BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • EML4 (EMAP Like 4) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TERT (Telomerase Reverse Transcriptase) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • PPARG (Peroxisome Proliferator Activated Receptor Gamma) • PAX8 (Paired box 8) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked)
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    BRAF mutation
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    ThyGeNEXT® + ThyraMIR®
    14d
    SOX17/PAX8 dual immunohistochemical expression in the diagnosis of Müllerian carcinomas. (PubMed, Diagn Pathol)
    Müllerian carcinomas can be distinguished from non-gynecological metastases using PAX8 and SOX17 immunohistochemistry, with PAX8-high/SOX17-high patterns strongly indicating endometrioid differentiation and double-negative results excluding gynecologic origin with consistency in colorectal, breast, and pulmonary carcinomas. Renal and thyroid carcinomas are the diagnostic traps on the basis of PAX8 expression and require additional markers for final classification in metastatic workups.
    Journal
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    SOX17 (SRY-Box Transcription Factor 17) • PAX8 (Paired box 8)
    15d
    Mixed epithelial and stromal tumor of the kidney: a case series of clinical diversity in atypical presentations. (PubMed, Transl Androl Urol)
    Robot-assisted partial nephrectomy is effective, and benign cases have a good prognosis. This study enriches MESTK clinical data, aiding in the differentiation of atypical cases and providing clinical evidence for standardized diagnosis and minimally invasive treatment of such cases.
    Journal
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    ER (Estrogen receptor) • PGR (Progesterone receptor) • PAX8 (Paired box 8)
    16d
    Primary peritoneal clear cell carcinoma with metastasis mimicking ovarian carcinoma: a case report and literature review. (PubMed, J Ovarian Res)
    This case highlights the diagnostic challenges of PPCCC and offers valuable insights into the clinical and pathological spectrum of this underrecognized malignancy.
    Journal
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PAX8 (Paired box 8)
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    PIK3CA mutation • ARID1A mutation
    17d
    PAX8-positive conventional urothelial carcinomas of the urinary bladder and their distinct molecular profiles - A clinicopathologic study of 101 consecutive cases with next-generation sequencing in 20 cases. (PubMed, Histopathology)
    A subset of conventional UCs of the urinary bladder without subtype morphology and/or divergent differentiation are PAX8-positive and have frequent alterations in TERT promoter, TSC1, NOTCH1, and WT1, with an absence of RB1 loss. PAX8 positivity should be interpreted with caution if UC is in the differential, and NGS could be helpful in diagnostic workups as this study shows PAX8-positive UCs may have a distinct molecular profile.
    Journal • Next-generation sequencing
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    RB1 (RB Transcriptional Corepressor 1) • NOTCH1 (Notch 1) • TERT (Telomerase Reverse Transcriptase) • WT1 (WT1 Transcription Factor) • TSC1 (TSC complex subunit 1) • PAX8 (Paired box 8)
    18d
    Ultra-late triple metastasis to the breast, lung, and brain 25 years after nephrectomy for clear cell renal cell carcinoma: a case report and literature review. (PubMed, Front Oncol)
    It underscores the necessity of lifelong follow-up for ccRCC survivors and demonstrates the integral role of imaging and pathological confirmation in guiding clinical diagnosis. Furthermore, the remarkable 25-year latency period challenges existing surveillance paradigms and provides a compelling rationale for the use of combined immunotherapy and targeted agents in managing ultra-late, multi-metastatic recurrences.
    Journal
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    HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • CA9 (Carbonic anhydrase 9) • MME (Membrane Metalloendopeptidase) • PAX8 (Paired box 8)
    18d
    Clinicopathological and molecular features of acquired cystic disease-associated renal cell carcinoma (PubMed, Zhonghua Bing Li Xue Za Zhi)
    ACD-RCC is a rare renal cell carcinoma that occurs in patients with end-stage renal disease and has unique morphological features. It is often associated with favorable prognosis and alterations in genes related to the MTOR/TSC pathway or chromatin modification.
    Journal
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    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • KMT2C (Lysine Methyltransferase 2C) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • MME (Membrane Metalloendopeptidase) • KMT2B (Lysine Methyltransferase 2B) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8) • TFEB (Transcription Factor EB 2)
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    TP53 mutation
    25d
    Primary malignant Brenner tumor of the ovary: a case report. (PubMed, Front Oncol)
    The patient was subsequently referred for adjuvant treatment. This case highlights the diagnostic challenge of MBT and underscores the critical role of immunohistochemistry (positive for GATA3 and p63, negative for Pax-8) in confirming the diagnosis and distinguishing MBT from its histological mimics.
    Journal
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    TP63 (Tumor protein 63) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8)