A Subset of FOXO1‐Fusion Negative Rhabdomyosarcoma With Round Cell (Alveolar) and “Burkitt‐Like” Morphology Is Associated With High Amplification of MYCL: A Report From the Children's Oncology Group
Oct 2026· Genes, Chromosomes and Cancer· Vol 65· 0 citations· 23 references
Medicine
Abstract
Alveolar rhabdomyosarcoma (ARMS) is a distinct histologic subtype of rhabdomyosarcoma, associated with the presence of a PAX3 or PAX7::FOXO1 gene fusion in approximately 80% of cases. Adverse outcomes for patients with ARMS are associated with the presence of a FOXO1 gene fusion; however, additional genetic markers are necessary to better characterize FOXO1‐fusion negative ARMS.
ABSTRACT We report an 18‐year‐old female with GATA2 deficiency presenting with a WHIM‐like phenotype, including pancytopenia, monocytopenia, CD19+ B‐cell depletion, sensorineural hearing loss, and cutaneous warts. Subsequent cytogenetic evaluation revealed monosomy 7 and 7q22 deletion, with bone marrow progression to M...
Aziz Eghbali, Meshkat Poortavakol, Hamideh Sadat Mirmohammadi· Clinical Case Reports· 0 citations
Background: Spindle-cell and sclerosing rhabdomyosarcomas (ssRMSs) are recently described as a rare variant of rhabdomyosarcoma (RMS), categorized by the World Health Organization classification as a entity distinct from embryonal or alveolar RMSs. Recent studies have shown ssRMSs to be a group of entities with signifi...
A. Pancaldi, Marco Lecis, E. Evangelisti et al.· Current Oncology· 0 citations
RUNX1 rearrangements are recurrent in myeloid neoplasms, but rare fusion partners remain poorly characterized. We report the first acute myeloid leukemia (AML) with a RUNX1::ZFPM2 fusion generated by t(8;21)(q23;q22). A 72‐year‐old woman presented with acute myelomonocytic leukemia carrying concomitant IDH2 and NRAS mu...
Marie Templé, Romain Vazquez, E. Balducci et al.· eJHaem· 0 citations
The WHO Classification of Bone and Soft Tissue Tumors comprises more than 170 defined tumor entities. Moreover, an increasing number of very rare mesenchymal neoplasms with distinct molecular alterations are being described. In the present case of an intraosseous tumor in a 34-year-old woman, RNA-based targeted panel s...
Christine Bollwein, Sebastian Breden, Carolin Knebel et al.· Pathologie· 0 citations
Neurotrophic tyrosine receptor kinase‐rearranged spindle cell neoplasms (NTRK‐SCNs) are rare mesenchymal tumours defined by oncogenic rearrangements involving NTRK genes. NTRK fusions are exceedingly rare in the gastrointestinal tract and can closely resemble wild‐type gastrointestinal stromal tumours (GISTs), posing a...
Yoonji Seo, C. Leung, M. Fadia et al.· Case Reports in Surgery· 0 citations
Huriez syndrome is a rare SMARCAD1-associated genodermatosis with variable clinical expression and cutaneous cancer risk. We describe a multigenerational family with a SMARCAD1 splice-site duplication affecting the skin-specific isoform, associated with marked phenotypic heterogeneity. This case highlights the importan...
B. Doolan, Yi-Ming Wang, I. Lara-Corrales et al.· Clincal and Experimental Der...· 0 citations
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