These findings will not only aid in understanding the mechanisms by which EV71 infection impacts the host immune system but also provide a scientific basis for identifying early diagnostic biomarkers and developing new therapeutic strategies.
Key messages Fine‑needle aspiration appears to be at least as effective as core-needle biopsy for these malignancies. Cytomorphological features, together with the immunohistochemical profile and detection of CIC rearrangements, can help accurately diagnose this rare malignancy.
1 month ago
Journal
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CD99 (CD99 Molecule) • NUTM1 (NUT Midline Carcinoma Family Member 1) • DUX4 (Double Homeobox 4)
MT with targeted drugs shows comparable efficacy in VHR and HR pediatric RMS patients, with manageable adverse reactions. Longitudinal ct-DNA testing could guide treatment decision-making and prognostic stratification for these patients.
This case report emphasizes the challenges in the diagnosis of RMS confined to the bone marrow due to its atypical presentation. It also highlights the poor prognosis and aggressiveness of this entity compared to conventional RMS.
These findings support L1CAM as a rational target for L1CAM-positive RMS cases and demonstrate that CAR optimization can enhance activity against moderate-density antigens. The potent antitumor activity and favorable selectivity profile of L1CAM.III-CAR T cells support their development for pediatric sarcoma immunotherapy.
The median time to progression was 7 months (range 2-16.5 months). The existence of a parallel relationship between the lesion and the ipsilateral inguinal region, as well as the vascular ball sign, is helpful in differentiating testicular ERMS from testicular seminoma.
Genetic testing of the rhabdomyosarcoma revealed a pathogenic c.4102dup (p.R1368fs) germline frameshift variant and a second c.5425G > A (p.G1809R) somatic missense variant in DICER1, as well as a somatic variant in BCOR. With this report, we advocate for further investigation of DICER1-associated rhabdomyosarcoma to improve management of this rare presentation.
Here, we describe two patients with EWSR1::PATZ1 sarcoma, of which one patient was initially misdiagnosed as synovial sarcoma and RMS on two occasions. These patients underscore the diagnostic challenges and therapeutic uncertainties surrounding EWSR1::PATZ1 fusion sarcomas, emphasizing the need for further large collaborative studies to establish optimal prognostic implications and management strategies for this rare entity.
2 months ago
Journal
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EWSR1 (EWS RNA Binding Protein 1) • PATZ1 (POZ/BTB And AT Hook Containing Zinc Finger 1)
A complete blood count obtained locally after return home showed severe cytopenias, prompting growth-factor support and close hematology-oncology follow-up. This case highlights that PPB should be prioritized in the differential diagnosis of aggressive pediatric intrathoracic masses with pneumothorax and mass effect, and demonstrates the value of adequate tissue sampling, expert pathology review, and early integration of molecular testing to prevent protocol misdirection and to trigger DICER1-directed genetic counseling and surveillance.