Case reportReported negativeLimited evidenceTier 3 · early humann = 1
International medical case reports journal · Jul 2026 · case report
intra-abdominal sarcomaprimary high-grade intraperitoneal sarcomapediatric abdominal tumor
This case report describes an 8-year-old girl in Somaliland who presented with a large abdominopelvic mass initially suspected to be a germ cell tumor. Empiric germ cell chemotherapy produced no response; surgery and histopathology revealed a high-grade intra-peritoneal sarcoma (desmin+, myogenin-), and the patient died about three months after treatment. The report emphasizes the diagnostic challenges when biopsy and molecular testing are limited.
Reported effects: cycles without response 2, n=1 · time to death 3 mo, n=1
Key findings
- Imaging suggested a germ cell tumor, and empiric germ cell tumor-directed chemotherapy was started.
- No clinical or radiological response was observed after two cycles of empiric chemotherapy.
- Exploratory laparotomy and cytoreductive surgery identified a large intra-peritoneal mass with omental and nodal involvement.
- Histopathology showed a high-grade malignant neoplasm with pleomorphic round-to-spindle cells and rhabdoid features; immunohistochemistry was diffusely desmin positive and myogenin negative; INI1 testing was unavailable.
- Despite postoperative chemotherapy the disease progressed and the patient died approximately 3 months after treatment.
Limitations: Single-patient case report (n=1).; Empiric therapy was given without pre-treatment histopathological confirmation.; Incomplete diagnostic work-up: INI1 testing and other molecular diagnostics were unavailable.; Short clinical follow-up (patient died ~3 months after treatment).; Findings from one case in a resource-limited setting may not generalize..
AI summary of the abstract, human-reviewed · Jul 2026. Describes what this study reported, not medical advice. View on PubMed · Full text
ReviewMechanismInconclusiveLimited evidenceTier 3 · early human
Advances in anatomic pathology · Jan 2026 · narrative review
gynecologic neoplasmsembryonal rhabdomyosarcomaSertoli-Leydig cell tumorpleuropulmonary blastoma-like peritoneal sarcomaadenosarcomagynandroblastomajuvenile granulosa cell tumorSertoli cell tumorDICER1-related Wilms-like uterine tumor
This narrative review summarizes how germline and somatic DICER1 mutations are associated with a range of benign and malignant gynecologic neoplasms and describes their shared morphologic features. The authors note that a germline loss-of-function DICER1 mutation is often followed by a somatic hotspot (second-hit) mutation in tumors, and they recommend that recognition of characteristic morphology should prompt genetic testing and surveillance for patients and families. The review proposes the term "DICER1-related primitive polyphenotypic neoplasm" to encompass the diverse histologic features of these tumors.
Key findings
- DICER1 is crucial for microRNA biogenesis and maturation.
- Germline DICER1 mutations are associated with increased risk of a wide range of benign and malignant neoplasms; the same tumors can also arise sporadically via somatic DICER1 mutations.
- In syndromic patients, a germline loss-of-function DICER1 mutation is usually followed by a somatic hotspot mutation in the tumor as a second hit.
- DICER1-associated gynecologic neoplasms most commonly include embryonal rhabdomyosarcoma and moderately to poorly differentiated Sertoli-Leydig cell tumor, with several less frequent tumor types also described.
- DICER1-mutant gynecologic neoplasms frequently share characteristic morphology (primitive mesenchyme, fetal-type epithelium/cartilage, rhabdomyoblastic and/or neuroectodermal differentiation, osteoid formation, and anaplasia).
- Recognition of these distinctive morphologic features should prompt consideration of DICER1-associated neoplasm and genetic testing to facilitate surveillance for patients and families.
- The morphologic spectrum of most DICER1-mutant gynecologic neoplasms appears wider than that of any known type of sarcoma.
- The authors propose the term "DICER1-related primitive polyphenotypic neoplasm" to better capture the diverse histologic features.
Limitations: Narrative review without description of systematic search or methods — potential selection bias in included reports.; No primary data or quantitative synthesis (no new experimental or cohort data presented).; Extent of evidence, frequency estimates, and outcomes are not quantified in the abstract..
Summarizes the association between DICER1 mutations and a spectrum of gynecologic tumors and highlights implications for pathologic recognition and genetic testing.
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed