These are reviewed studies whose abstracts concern Renal Sarcoma. Each describes only what that study reported. This is not a claim by OncoForge that any compound helps or harms Renal Sarcoma. Most are early lab, animal, or small human studies, and findings often conflict.
ReviewMechanismMixed resultsLimited evidenceTier 4 · clinical
Nature reviews. Urology · Aug 2025
clear-cell sarcoma of the kidneycongenital mesoblastic nephromamalignant rhabdoid tumour of the kidneyrenal-cell carcinomarenal medullary carcinomaWilms tumourother rare renal histologies
This review summarizes major discoveries in the biology of non-Wilms childhood kidney tumours, a heterogeneous group that makes up about 20% of paediatric and AYA renal tumours. It describes how clinicopathological observation, immunohistochemistry, molecular cytogenetics and next-generation sequencing improved tumour recognition and risk stratification, and how new models (cell lines, organoids, xenografts, genetically engineered mouse models) have aided understanding and target identification. The authors note that despite these advances, patients with these rare tumours still die at higher rates than those with Wilms tumour and call for international coordinated efforts to address unresolved questions.
Key findings
- Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumours.
- Differential diagnosis evolved from clinicopathological observation to immunohistochemistry, molecular cytogenetics and next-generation sequencing, enabling near-definitive recognition and risk stratification.
- New renal-tumour models (cell lines, organoids, xenografts and genetically engineered mouse models) have improved understanding of tumour development and facilitated identification of new therapeutic targets.
- Despite these advances, patients with these rare cancers continue to die at higher rates than patients with Wilms tumour.
- The authors recommend international coordinated efforts to answer unresolved questions and improve outcomes.
Limitations: Review article summarizing prior work rather than presenting new primary data.; Subject focuses on a heterogeneous group of rare tumours, limiting generalizability across all non-Wilms histologies.; Abstract indicates unresolved questions remain and that outcomes are still poor, implying limited definitive clinical evidence for improved outcomes..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
ReviewMechanismInconclusiveLimited evidenceTier 4 · clinical
Surgical pathology clinics · Jun 2025 · narrative review
Wilms tumordiffuse anaplastic Wilms tumorblastemal Wilms tumoranaplastic sarcoma of kidneyclear cell sarcoma of kidneypediatric renal tumor
This narrative review summarizes the clinical, histopathological, and molecular features of several uncommon and aggressive pediatric kidney tumors (including diffuse anaplastic Wilms tumor, blastemal Wilms tumor, anaplastic sarcoma of the kidney, and clear cell sarcoma of the kidney). The authors note these tumors are rare and can pose diagnostic challenges for pathologists, and they emphasize that accurate diagnosis is essential to ensure appropriate management.
Key findings
- Favorable-histology Wilms tumors are the most prevalent pediatric renal tumor, while the remainder comprises a small but diverse group of malignant neoplasms.
- Uncommon pediatric renal tumors discussed include diffuse anaplastic Wilms tumor, blastemal Wilms tumor, anaplastic sarcoma of kidney, and clear cell sarcoma of kidney.
- Because of their rarity, these tumors may pose diagnostic challenges for pathologists.
- Accurate diagnosis is essential to ensuring these aggressive tumors are managed appropriately.
- The article summarizes salient clinical, histopathological, and molecular features of these uncommon tumors.
Limitations: Narrative review rather than primary experimental or clinical research; no new patient-level data reported in the abstract.; Abstract does not report methods (e.g., systematic search strategy), so potential selection bias in included literature cannot be assessed from the abstract.; Rarity of the tumors discussed implies limited published data and possible incomplete characterization..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
ReviewInconclusiveLimited evidenceTier 4 · clinical
Surgical pathology clinics · Mar 2025
kidney mesenchymal neoplasmsperinephric soft tissue neoplasmsmetanephric stromal tumorcongenital mesoblastic nephroma (classic)congenital mesoblastic nephroma (cellular)anaplastic sarcoma of the kidneyclear cell sarcoma of the kidneymalignant rhabdoid tumorPEComa/angiomyolipomaanastomosing hemangiomaperinephric myxoid pseudotumor of fatwell-differentiated/dedifferentiated liposarcomasarcomatoid carcinoma
This is a narrative review that summarizes mesenchymal tumors of the kidney and tumors of the perinephric soft tissue. The author reviews specific entities (for example, metanephric stromal tumor, congenital mesoblastic nephroma, anaplastic and clear cell sarcomas, malignant rhabdoid tumor, PEComa/angiomyolipoma, and anastomosing hemangioma), discusses perinephric myxoid pseudotumor of fat, and highlights diagnostic pitfalls such as well-differentiated/dedifferentiated liposarcoma and sarcomatoid carcinoma.
Key findings
- Perinephric soft tissue biopsies are sometimes submitted as 'kidney' masses, which can cause diagnostic confusion.
- The review covers a range of renal mesenchymal neoplasms including metanephric stromal tumor, classic and cellular congenital mesoblastic nephroma, anaplastic sarcoma, clear cell sarcoma of the kidney, malignant rhabdoid tumor, PEComa/angiomyolipoma, and anastomosing hemangioma.
- Perinephric myxoid pseudotumor of fat is discussed as a distinct entity.
- The author discusses diagnostic pitfalls presented by well-differentiated/dedifferentiated liposarcoma and sarcomatoid carcinoma.
Limitations: Narrative review only; no original patient-level data or new experimental results are presented in the abstract.; Abstract does not state systematic review methods, so comprehensiveness and selection criteria are unclear.; No quantitative data, outcomes, or diagnostic performance metrics are reported in the abstract.; Focus is diagnostic/pathologic; therapeutic implications or clinical outcomes are not addressed in the abstract..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
Human · observationalReported positiveLimited evidenceTier 3 · early humann = 47
Pediatric blood & cancer · Aug 2024 · Registry cohort (International Pleuropulmonary Blastoma/DICER1 Registry) combined with comprehensive review/aggregation of previously published cases (pooled case series)
anaplastic sarcoma of the kidneykidney neoplasmDICER1-related tumor
Researchers combined cases from an international DICER1 registry and the published literature to assemble 47 cases of anaplastic sarcoma of the kidney (ASK). They report stage distribution, two-year event-free and overall survival by stage, and that chemotherapy was associated with markedly lower hazards of events and death (HR 0.09 for EFS and HR 0.08 for OS). Staging and outcome data were incomplete for some cases and the analysis is retrospective.
Reported effects: 2-year EFS stage I-II 81.8% [67.2–99.6], p p = .07, n=40 · 2-year EFS stage III-IV 46.6% [24.7–87.8], p p = .07, n=40 · +11 more
Key findings
- Ten cases of ASK were identified in the Registry and 37 previously published cases were aggregated, for a total of 47 cases.
- Staging data (available for 40 patients) were: 13 stage I, 12 stage II, 10 stage III, and 5 stage IV.
- Outcome data were available for 37 patients.
- Most (38 of 46) patients received upfront chemotherapy; 14 patients received upfront radiation.
- Two-year event-free survival (EFS) for stage I-II was 81.8% (95% CI: 67.2%-99.6%) versus 46.6% (95% CI: 24.7%-87.8%) for stage III-IV (p = .07).
- Two-year overall survival (OS) for stage I-II was 88.9% (95% CI: 75.5%-100.0%) versus 70.0% (95% CI: 46.7%-100.0%) for stage III-IV (p = .20).
- Chemotherapy was associated with improved outcomes: hazard ratio for EFS 0.09 (95% CI: 0.02-0.31) and for OS 0.08 (95% CI: 0.02-0.42).
Limitations: Retrospective registry and literature-aggregated case series with inherent selection and reporting biases.; Small overall sample size (47 cases) and incomplete data (staging data available for 40 patients; outcome data for 37 patients).; Heterogeneous and non-standardized treatments across cases; not a randomized comparison.; Short/limited follow-up reported (two-year EFS/OS emphasized).; Stage comparisons did not reach conventional statistical significance (p = .07 for EFS; p = .20 for OS)..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed · Full text
Human · observationalMechanismReported positiveLimited evidenceTier 3 · early humann = 365
Clinical genitourinary cancer · Feb 2023 · retrospective population-based cohort study (SEER database 2004-2015)
renal sarcomakidney neoplasmssarcoma
This retrospective population-based study used SEER data (2004–2015) to describe clinicopathologic features and overall survival for 365 patients with renal sarcoma and to evaluate a 3-stage TNM-based classification. Median overall survival differed markedly by proposed stage (stage I 105 months, stage II 46 months, stage III 8 months), and multivariable analysis showed age, higher stage, higher grade, and lacking medical insurance were significantly associated with worse survival. Nephrectomy showed a trend toward improved survival but did not reach conventional significance in multivariable analysis.
Reported effects: Sample size 365, n=365 · Stage I prevalence 28.5%, n=365 · +13 more
Key findings
- Identified 365 patients with renal sarcoma; 104 (28.5%) had stage I, 133 (36.4%) had stage II, and 117 (32.1%) had stage III at diagnosis.
- Median survival: stage I 105 months (IQR, 29 - not reached; n=104), stage II 46 months (IQR 14-118 months; n=133), stage III 8 months (IQR 3-28 months; n=117), entire cohort 32 months (IQR, 8-116 months; n=365).
- On multivariable analysis, age (HR per year 1.02, 95% CI 1.00-1.04) was associated with OS.
- Stage II vs I: HR 1.71 (95% CI 1.00-2.92); Stage III vs I: HR 4.93 (95% CI 2.68-9.05), both independently associated with worse OS.
- Higher grade associated with worse OS (grade 3 vs 1: HR 3.07, 95% CI 1.18-8.00; grade 4 vs 1: HR 3.66, 95% CI 1.41-9.49).
- Possessing medical insurance was independently associated with better OS (HR 0.40, 95% CI 0.16-0.94).
- Performance of nephrectomy trended toward improved OS (HR 0.23, 95% CI 0.05-1.09) but did not achieve conventional statistical significance.
Limitations: Retrospective observational design using registry data (SEER) with inherent potential for coding errors and unmeasured confounding.; No external validation cohort to confirm the proposed 3-stage TNM classification's prognostic performance.; Limited clinical detail in registry data (e.g., comorbidities, systemic therapies, performance status) not reported in the abstract.; Relatively small absolute numbers when stratified by stage/grade given disease rarity..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed · Full text
Human · observationalMechanismMixed resultsLimited evidenceTier 3 · early humann = 108
The journal of pathology. Clinical research · May 2022 · immunohistochemical survey of tissue specimens (PRAME and EZH2)
pituitary blastomapleuropulmonary blastomacystic nephromaanaplastic sarcoma of the kidneyembryonal rhabdomyosarcomasarcomakidney neoplasmspulmonary blastoma
The authors surveyed PRAME and EZH2 protein expression by immunohistochemistry in 75 DICER1-mutated and 33 non-mutated human specimens. PRAME staining among DICER1-mutated cases was seen only in malignant tumours (34/62 tumours, 7 of 11 histologic types) and was absent in non-tumourous lesions; staining patterns suggested PRAME is associated with progression in lesions such as pleuropulmonary blastoma and cystic nephroma. Embryonal rhabdomyosarcoma was PRAME-positive both with and without DICER1 pathogenic variants. EZH2 staining paralleled PRAME staining.
Reported effects: DICER1_mutated_specimens_count 75 · DICER1_non-mutated_specimens_count 33 · +9 more
Key findings
- The cohort comprised 75 DICER1-mutated specimens and 33 non-mutated specimens (surveyed by immunohistochemistry for PRAME and EZH2).
- In DICER1-mutated specimens, positive staining for PRAME was only seen in malignant tumours: 7 of 11 histological types and 34/62 individual tumours were PRAME-positive.
- Pleuropulmonary blastoma (PPB) showed a continuum: type I lesions were PRAME-negative (n = 7), while all type II and type III lesions were PRAME-positive (n = 7).
- Cystic nephroma (CN) samples were PRAME-negative (n = 8), whereas anaplastic sarcoma of the kidney was PRAME-positive (n = 2); one atypical CN with mesenchymal proliferation was PRAME-positive.
- Embryonal rhabdomyosarcoma (RMS) with DICER1 pathogenic variants was PRAME-positive in 5/6 cases, and RMS without DICER1 pathogenic variants was PRAME-positive in 9/15 cases, suggesting PRAME expression in RMS can be independent of DICER1 status.
- EZH2 immunostaining corresponded to PRAME staining, supporting the PRAME findings.
- Authors conclude: (1) PRAME expression occurs in two-thirds of DICER1-related malignancies; (2) PRAME may mark progression in certain DICER1-related lesions (e.g., PPB, CN); (3) PRAME expression in some tumours (e.g., RMS) may be intrinsic to the tumour rather than specifically related to DICER1 pathogenic variants.
Limitations: Observational, retrospective immunohistochemical study of archived specimens without functional or outcome correlation.; Many diagnostic subgroups have small case numbers (e.g., some n = 2 or n = 6), limiting generalisability.; IHC-based assessment may be subjective and lacks standardized scoring reported in the abstract.; No longitudinal clinical outcome data to link PRAME expression with prognosis or treatment response.; Funding sources not reported in the abstract..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed · Full text
ReviewMechanismReported positiveLimited evidenceTier 3 · early human
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · Jan 2022 · narrative review
pleuropulmonary blastomalung neoplasmsSertoli-Leydig cell tumorgynandroblastomaembryonal rhabdomyosarcomamultinodular goiterdifferentiated thyroid carcinomapoorly differentiated thyroid carcinomacervical-thyroid teratomacystic nephromaanaplastic sarcoma of kidneynasal chondromesenchymal hamartomaintestinal juvenile-like hamartomatous polypciliary body medulloepitheliomapituitary blastomapineoblastomaprimary central nervous system sarcomaembryonal tumor with multilayered rosettes-like cerebellar tumorPPB-like peritoneal sarcomapresacral malignant teratoid neoplasm
This narrative review summarizes DICER1 tumor predisposition syndrome, an autosomal dominant disorder caused by heterozygous germline DICER1 mutations, and describes pleuropulmonary blastoma (PPB) as the most common associated tumor in early childhood. The review lists a broad spectrum of extrapulmonary neoplasms linked to DICER1 (each typically showing a second somatic DICER1 mutation), highlights overlapping histopathologic features and cystic-to-solid progression, and recommends that such findings should prompt testing for DICER1 mutations.
Reported effect: age_range_of_progression
Key findings
- DICER1 syndrome is an autosomal dominant tumor predisposition disorder caused by a heterozygous germline DICER1 mutation.
- Pleuropulmonary blastoma (PPB) is the most common tumor seen clinically in this syndrome and is classified into types (IR, I, II, III) with progression from cystic (type I) to solid (type III).
- A wide spectrum of extrapulmonary neoplasms (e.g., Sertoli-Leydig cell tumor, embryonal rhabdomyosarcoma, thyroid carcinomas, cystic nephroma, pineoblastoma, pituitary blastoma, others) have been associated with germline DICER1 mutations.
- Each of these neoplasms is characterized by a second somatic mutation in DICER1.
- Many of the associated tumors share overlapping histopathologic features, particularly primitive mesenchyme with rhabdomyoblastic and chondroid differentiation, and several show an initial cystic stage with progression to higher-grade neoplasms.
- Pathologic recognition of these features should alert pathologists and clinicians to consider DICER1-associated neoplasm testing.
Limitations: Narrative review: abstract does not report new primary patient-level data.; Abstract provides descriptive summary without systematic review methods or quantitative synthesis.; No sample sizes, incidence rates, or outcome metrics provided in the abstract.; Primarily descriptive/pathologic correlations; clinical management implications not detailed in abstract..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed · Full text
ReviewInconclusiveLimited evidenceTier 3 · early human
Clinics in perinatology · Mar 2021
neonatal renal tumorsrenal leiomyosarcomarenal cell carcinomatransitional cell carcinomarenal sarcoma
This review summarizes how renal tumors present, are worked up, treated, and what outcomes are reported in the neonatal period. It notes that some lesions are detected prenatally but most present after birth, frequently as a palpable abdominal mass, and that cross-sectional imaging followed by radical nephrectomy is commonly used to obtain a specific histologic diagnosis. The abstract highlights that renal leiomyosarcoma is rare and aggressive with a high tendency for local recurrence and metastasis, and it reviews adult renal cell carcinoma epidemiology and subtypes for context.
Key findings
- Renal tumors are rare in the neonatal period; some may be detected prenatally but a greater proportion present after birth, most often with a palpable abdominal mass with or without other associated symptoms.
- Cross-sectional imaging is typically followed by radical nephrectomy to make a specific histologic diagnosis to determine the need for additional therapy.
- Renal leiomyosarcoma (LMS) is a rare and aggressive mesenchymal tumor that usually arises from smooth muscle cells of intrarenal blood vessels or the renal pelvis.
- Primary renal leiomyosarcomas represent 1%-2% of all malignant renal tumors, have a mean age at presentation of 50–60 years with female preponderance, show a high tendency of local recurrence, frequently metastasize via hematogenous spread, and carry an overall poor prognosis.
- Differentiation of primary renal leiomyosarcoma from sarcomatoid renal cell carcinoma is necessary because prognosis differs.
- Renal cell carcinoma (RCC) is the most common type of cancer arising in the kidney in adults, making up more than 9 out of 10 renal cancers in adults and accounting for over 3% of all adult malignancies; it is most commonly seen between ages 50 to 70 with an approximate 2:1 male to female ratio.
Limitations: Narrative review article; no new primary data or study-level results are presented in the abstract.; Abstract provides no sample sizes, quantitative neonatal outcome data, or details of methods used to identify or synthesize evidence.; Discussion includes adult epidemiology and age ranges that may not be applicable to neonatal patients..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
ReviewMechanismReported positiveModerate evidenceTier 3 · early human
Surgical pathology clinics · Dec 2020 · narrative review
pediatric cystic nephromametanephric tumorscongenital mesoblastic nephromatranslocation renal cell carcinomaclear cell sarcoma of the kidneyrhabdoid tumor of the kidneypediatric renal tumors
This narrative review summarizes recent molecular characterization of pediatric renal tumors. It highlights associations such as DICER1 with pediatric cystic nephromas, somatic BRAF mutations in the metanephric tumor family, characterization of ETV6-NTRK3-negative congenital mesoblastic nephromas, expanded gene fusions in translocation RCC, the link between clear cell sarcoma of the kidney and BCOR-altered tumors, and SMARCB1-altered pathways in rhabdoid tumors. The authors note these molecular findings have implications for diagnosis, classification, and treatment.
Key findings
- Association of pediatric cystic nephromas with DICER1 tumor syndrome.
- Metanephric family of tumors associated with somatic BRAF mutations.
- Characterization of ETV6-NTRK3-negative congenital mesoblastic nephromas.
- Expanded spectrum of gene fusions in translocation renal cell carcinoma.
- Relationship of clear cell sarcoma of the kidney with other BCOR-altered tumors.
- Pathways affected by SMARCB1 alterations in rhabdoid tumors of the kidney.
- These molecular advances have implications for diagnosis, classification, and treatment of pediatric renal tumors.
Limitations: Narrative review rather than primary research; no new patient-level data reported.; Abstract does not describe systematic review methods, study selection, or sample sizes.; No quantitative clinical outcome data presented in the abstract..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
ReviewMechanismInconclusiveModerate evidenceTier 4 · clinical
Anatomical record (Hoboken, N.J. : 2007) · Oct 2020 · Review
nephroblastoma (Wilms tumor)clear cell sarcoma of the kidneyrhabdoid tumor of the kidneyrenal cell carcinoma (pediatric renal cell tumors)congenital mesoblastic nephroma
This is a comprehensive review of the major pediatric renal neoplasms (including Wilms tumor, clear cell sarcoma of the kidney, rhabdoid tumor, pediatric renal cell tumors, and congenital mesoblastic nephroma). The authors summarize epidemiology, pathology, current treatments, underlying genetic and molecular mechanisms, and discuss proposed developmental origins and differential features, highlighting areas that could inform improved therapeutic strategies.
Key findings
- Provides a detailed overview of commonly diagnosed pediatric renal malignancies and their differential features.
- Summarizes epidemiology, pathology, and current treatment approaches for these pediatric renal tumors.
- Discusses underlying genetic and molecular mechanisms and proposes developmental origins for these cancers.
- Highlights potential avenues for improved therapeutic strategies based on developmental and molecular insights.
Limitations: Review article only — presents synthesis of existing studies rather than new primary data.; The abstract does not indicate whether this is a systematic review or how literature was selected, so comprehensiveness and selection bias cannot be assessed from the abstract..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
ReviewMechanismReported positiveModerate evidenceTier 3 · early human
Journal of clinical pathology · Jun 2020
clear cell sarcoma of the kidneyprimitive myxoid mesenchymal tumour of infancycentral nervous system high-grade neuroepithelial tumour with BCOR alterationundifferentiated round cell sarcomahigh-grade endometrial stromal sarcomaossifying fibromyxoid tumour
This article reviews the BCOR gene, its role in transcriptional repression and epigenetic silencing via PRC1, and summarizes BCOR genetic alterations found across multiple tumour types. It notes internal tandem duplications and recurrent BCOR fusion partners (CCNB3, MAML3, ZC3H7B) and states that BCOR immunohistochemistry is an established diagnostic marker.
Studied with: ccnb3, maml3, zc3h7b.
Key findings
- BCOR is located at Xp11.4 and encodes a protein involved in transcriptional repression with BCL-6 and epigenetic silencing via PRC1.
- BCOR mutations and alterations are identified in a growing and diverse set of tumours that share overlapping histological features (small round blue cell morphology, myxoid background with delicate capillary channels).
- Specific tumours (clear cell sarcoma of the kidney, primitive myxoid mesenchymal tumour of infancy, CNS high-grade neuroepithelial tumour with BCOR alteration) share similar internal tandem duplications in the BCOR RING finger-like domain.
- Translocations producing BCOR fusions with CCNB3, MAML3 and ZC3H7B have been identified in undifferentiated round cell sarcoma.
- ZC3H7B-BCOR fusions are present in subsets of high-grade endometrial stromal sarcoma and ossifying fibromyxoid tumour associated with a more aggressive clinical course.
- BCOR immunohistochemistry is an established marker with diagnostic utility.
Limitations: Review article summarizing previously reported findings; no new primary patient-level data presented in the abstract.; Abstract provides qualitative descriptions only; no quantitative results or sample sizes reported.; Mechanistic and clinical outcome details beyond genetic/diagnostic associations are not provided in the abstract..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed
ReviewMechanismInconclusiveLimited evidenceTier 3 · early human
Acta neuropathologica · Apr 2020
pleuropulmonary blastomaovarian Sertoli-Leydig cell tumorcystic nephromamultinodular goiterthyroid carcinomaanaplastic sarcoma of the kidneyembryonal rhabdomyosarcomanasal chondromesenchymal hamartomametastases of pleuropulmonary blastoma to the cerebrumpituitary blastomapineoblastomaciliary body medulloepitheliomaprimary DICER1-associated CNS sarcomasETMR-like infantile cerebellar embryonal tumormacrocephaly (non-neoplastic phenotype)
This is a review of the central nervous system (CNS) manifestations of DICER1 syndrome, a rare tumor predisposition syndrome that mainly affects children and young adults. The authors summarize the genetic basis (germline loss-of-function DICER1 alterations with somatic RNase IIIb hotspot missense mutations), the wide spectrum of pleiotropic benign and malignant lesions with pleuropulmonary blastoma as the hallmark tumor, and previously defined CNS manifestations including several primary CNS tumors and macrocephaly as a non-neoplastic phenotype.
Key findings
- DICER1 syndrome is typically caused by heterozygous germline loss-of-function DICER1 alterations accompanied by somatic missense mutations at hotspots in the RNase IIIb domain.
- DICER1 encodes a component of the microRNA biogenesis machinery.
- The syndrome is highly pleiotropic and includes a constellation of benign and malignant neoplastic and dysplastic lesions.
- Pleuropulmonary blastoma (PPB) is the hallmark tumor of the syndrome.
- Other reported manifestations include ovarian Sertoli-Leydig cell tumor, cystic nephroma arising in childhood, multinodular goiter, thyroid carcinoma, anaplastic sarcoma of the kidney, embryonal rhabdomyosarcoma, and nasal chondromesenchymal hamartoma.
- CNS manifestations defined in the literature include PPB metastases to the cerebrum, pituitary blastoma, pineoblastoma, ciliary body medulloepithelioma, primary DICER1-associated CNS sarcomas, and ETMR-like infantile cerebellar embryonal tumor.
- Macrocephaly has been reported as a non-neoplastic, haploinsufficient phenotype associated with DICER1.
Limitations: Review article: no new primary patient-level data presented in the abstract.; DICER1 syndrome is rare, so the literature is likely composed of small case series and individual reports, limiting generalizability.; Abstract does not indicate systematic review methods or quantitative synthesis.; Heterogeneous and pleiotropic manifestations make it difficult to derive uniform clinical conclusions from a narrative review..
AI summary of the abstract, human-reviewed · Jun 2026. Describes what this study reported, not medical advice. View on PubMed