Penile schwannoma, though rare, should be considered in the differential diagnosis of penile masses. Accurate diagnosis relies on histopathological and immunohistochemical evaluation. Complete surgical excision with nerve preservation offers favorable outcomes and minimal functional impairment.
No recurrence was observed after 18 months. This case highlights the role of histological and immunohistochemical evaluation in diagnosing this rare cause of unilateral proptosis.
6 days ago
Journal
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MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • GLI1 (GLI Family Zinc Finger 1) • HMGA2 (High mobility group AT-hook 2) • NAV3 (Neuron Navigator 3 )
Given the risk of late recurrence-especially in large tumors-long-term imaging follow-up is mandatory. This case highlights the importance of considering SFT in the differential diagnosis of large pulmonary masses, the critical role of STAT6-based histopathologic confirmation, and the necessity for prolonged surveillance even after complete resection.
13 days ago
Journal
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STAT6 (Signal transducer and activator of transcription 6)
Immunohistochemistry demonstrated nuclear β-catenin positivity with negative C-kit (CD117), discovered on GIST 1 (DOG1), and desmin, confirming mesenteric desmoid fibromatosis. Surgery remains the mainstay of treatment in symptomatic cases.
LGFMS in the posterior knee compartment poses unique diagnostic and surgical challenges due to proximity to critical neurovascular structures. Despite negative margins and favorable short-term outcome, the tumor's known potential for late recurrence necessitates prolonged, structured surveillance.
Given the tumour's low-grade, hormone-receptor-positive biology and microscopic radial margin involvement, adjuvant endocrine therapy with letrozole (2.5 mg daily) was initiated...Accurate diagnosis and optimal management depend on comprehensive histology and immunohistochemistry, supported by fusion-gene testing, to guide individualised surgical and adjuvant management. Given the tumour's potential for very late relapse, prolonged surveillance is warranted despite the favourable short-term outcome.
These tumors are relatively aggressive and often associated with multiple mutations, including those associated with their aggressive clinical behavior. A review of similar reported tumors in the literature is discussed herewith.
They exhibit significant overlap with USP6-associated lesions and PDGFR-altered myofibromas. Recognizing these fusions is critical to avoid diagnostic pitfalls and overtreatment, particularly when they present in unusual sites, such as the heart.
The patient was started on doxorubicin and ifosfamide chemotherapy. This case emphasizes that systematic cutaneous assessment in children with deep, rapidly growing soft tissue masses can be pivotal for identifying NF1, refining the differential diagnosis toward MPNST, and accelerating appropriate staging and multidisciplinary management.
This case underscores that a large, well-circumscribed retroperitoneal peripheral nerve sheath tumor in a young adult may still be malignant. Pathology-driven risk stratification with quantified mitotic activity and Ki-67 is essential for accurate classification and for planning structured post-resection surveillance.
After a dose of ifosfamide/etoposide elsewhere, therapy was revised to ifosfamide, carboplatin, and etoposide plus brentuximab vedotin, with marked improvement by 2 cycles and cutaneous resolution by 5; she died of cardiopulmonary failure before the sixth cycle. This case underscores generous sampling, focused immunohistochemistry, and staging; negative ALK/EMA does not exclude systemic disease, and CD30-directed therapy can yield rapid cutaneous responses.
24 days ago
Journal
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ALK (Anaplastic lymphoma kinase) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C)
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ALK positive • LDH elevation • ALK negative
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carboplatin • ifosfamide • etoposide IV • Adcetris (brentuximab vedotin)
No additional adjuvant treatment was given, and the patient is alive without disease, 8 months after the major resection. Long term follow-up of 6 years with only local recurrence lends further support to the notion that these neoplasms are a class of indolent/low-grade rhabdomyoblastic tumors that are biologically and clinically distinct from fully malignant spindle cell rhabdomyosarcomas.
24 days ago
Journal
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MYOD1 (Myogenic Differentiation 1) • PAX7 (Paired Box 7) • TCF12 (Transcription Factor 12) • VGLL3 (Vestigial Like Family Member 3)