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Dermatologic Surgery : Official... Apr 2024Desmoplastic trichoepithelioma (DTE) is an uncommon benign adnexal tumor that histologically may mimic malignant tumors including basal cell carcinoma and microcystic...
A Systematic Review of the Epidemiology, Clinical Characteristics, Treatment, and Outcomes for Desmoplastic Trichoepithelioma: Underscoring Mohs Micrographic Surgery in Management.
BACKGROUND
Desmoplastic trichoepithelioma (DTE) is an uncommon benign adnexal tumor that histologically may mimic malignant tumors including basal cell carcinoma and microcystic adnexal carcinoma.
OBJECTIVE
To present a systematic review of the epidemiology, clinical characteristics, treatment, and outcome data on DTEs, with emphasis on comparing Mohs micrographic surgery (MMS) with other treatments.
METHODS
Using the OVID platform, MEDLINE and Embase were searched from inception for studies providing original data on DTEs.
RESULTS
A total of 338 cases of DTE from 61 articles were included. No recurrence/persistence (0%) was reported following MMS (n = 24, mean follow-up of 41.9 months), 13.1% with standard excision (n = 38, mean follow-up 16.9 months), and 2.1% for electrosurgery/cautery (n = 49, follow-up 3-72 months). 100% recurrence/persistence for imiquimod (n = 2) and liquid nitrogen (n = 4) were identified. In patients who underwent biopsy only, there was a 12.5% recurrence/persistence (n = 32, mean follow-up 16.5 months). Overall, duration of follow-up varied from 2 months to 6 years for the various management strategies.
CONCLUSION
Data are limited regarding DTE outcomes. In this review, surgical modalities, specifically MMS, had the lowest rates of recurrence/persistence compared with other options. Given that most lesions are found on cosmetically sensitive locations, MMS seems to be the optimal management strategy for actively managing DTEs.
PubMed: 38595132
DOI: 10.1097/DSS.0000000000004194 -
Dermatologic Surgery : Official... Apr 2023Few prospective studies have evaluated local recurrence rates (LRR) after excision of desmoplastic melanoma (DM); however, several retrospective studies have reported... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Few prospective studies have evaluated local recurrence rates (LRR) after excision of desmoplastic melanoma (DM); however, several retrospective studies have reported high LRR.
OBJECTIVE
To determine LRR after excision of DM and evaluate factors affecting LRR.
MATERIALS AND METHODS
Systematic review of the PubMed, Embase, and Web of Science databases was performed to identify studies reporting local recurrence after excision of DM with conventional wide local excision (WLE), Mohs micrographic surgery (MMS), or staged excision (SE). Meta-analysis was performed to calculate summary LRR and pooled risk ratios (RR).
RESULTS
Literature search identified 4 studies evaluating MMS or SE (total n = 61 DM). 53 studies assessed WLE ( n = 3,080) and were analyzed quantitatively. The overall LRR after WLE of DM was 21% (95% CI, 0.16-0.28; n = 2,308). Local recurrence rate was higher with positive/unknown histologic excision margins (49%, 95% CI, 0.25-0.74; n = 91) versus negative histologic margins (11%, 95% CI, 0.07-0.17; n = 1,075; [ p < .01]). Neurotropism was also associated with increased LRR (RR, 1.79; 95% CI, 1.34-2.38, p < .01; n = 644).
CONCLUSION
DM has high LRR after WLE. Local recurrence risk was greatest with positive excision margins, indicating the importance of achieving negative microscopic margins. Greater study of MMS and SE for DM is required.
Topics: Humans; Skin Neoplasms; Retrospective Studies; Margins of Excision; Prospective Studies; Neoplasm Recurrence, Local; Mohs Surgery; Melanoma
PubMed: 36857167
DOI: 10.1097/DSS.0000000000003699 -
Journal of Plastic, Reconstructive &... Dec 2022Desmoplastic melanoma (DM) is a less common form of cutaneous melanoma that has been described for decades; however, controversy remains regarding the management and use...
BACKGROUND
Desmoplastic melanoma (DM) is a less common form of cutaneous melanoma that has been described for decades; however, controversy remains regarding the management and use of sentinel lymph node biopsy (SLNB). The purpose of this study is to identify whether SLNB is indicated in all cases of DM, including the pure subtype.
METHODS
A systematic review was conducted using PubMed (with access to MEDLINE) along with the Cochrane Central Register of Controlled Trials from 2001 to 2019. Case series and case-control studies were included.
RESULTS
Eighteen studies were included for a total population of 3,914 patients. SLNB was performed in 2229 patients. The percentage of positive SLNB results was 8.5%. However, patients with pure DM (>90% desmoplastic component) were found to have a significantly lower rate of occult metastatic node positivity when compared with that of mixed DM (4.9% and 14.8%, respectively).
CONCLUSIONS
Our findings underscore the importance of the pathologist reporting percentage of desmoplastic component in melanoma. SLNB should be strongly considered for patients with mixed DM. However, the low rate of occult metastatic node positivity in pure DM is beneath the threshold for using SLNB as a staging procedure.
SUMMARY
Previous studies have suggested that desmoplastic melanoma is less likely to metastasize to regional lymph nodes when compared with conventional melanoma. This review suggests that it is imperative to distinguish the histologic subtype of desmoplastic melanoma to determine if staging procedure is indicated.
Topics: Humans; Sentinel Lymph Node Biopsy; Melanoma; Skin Neoplasms; Lymph Nodes; Case-Control Studies; Prognosis; Sentinel Lymph Node
PubMed: 36283925
DOI: 10.1016/j.bjps.2022.08.044 -
Frontiers in Oncology 2022Virtually every cell in the body releases extracellular vesicles (EVs), the contents of which can provide a "fingerprint" of their cellular origin. EVs are present in...
Virtually every cell in the body releases extracellular vesicles (EVs), the contents of which can provide a "fingerprint" of their cellular origin. EVs are present in all bodily fluids and can be obtained using minimally invasive techniques. Thus, EVs can provide a promising source of diagnostic, prognostic, and predictive biomarkers, particularly in the context of cancer. Despite advances using EVs as biomarkers in adult cancers, little is known regarding their use in pediatric cancers. In this review, we provide an overview of published clinical and studies in order to assess the potential of using EV-derived biomarkers in pediatric solid tumors. We performed a systematic literature search, which yielded studies regarding desmoplastic small round cell tumor, hepatoblastoma, neuroblastoma, osteosarcoma, and rhabdomyosarcoma. We then determined the extent to which the findings are supported by data, and vice versa. We also critically evaluated the clinical studies using the GRADE (Grading of Recommendations Assessment, Development, and Evaluation) system, and we evaluated the purification and characterization of EVs in both the and studies in accordance with MISEV guidelines, yielding EV-TRACK and PedEV scores. We found that several studies identified similar miRNAs in overlapping and distinct tumor entities, indicating the potential for EV-derived biomarkers. However, most studies regarding EV-based biomarkers in pediatric solid tumors lack a standardized system of reporting their EV purification and characterization methods, as well as validation in an independent cohort, which are needed in order to bring EV-based biomarkers to the clinic.
PubMed: 35686092
DOI: 10.3389/fonc.2022.887210 -
Frontiers in Oncology 2022Conventional parameters show limited and unreliable correlations with medulloblastoma prognosis.
BACKGROUND
Conventional parameters show limited and unreliable correlations with medulloblastoma prognosis.
AIM
To evaluate the factors influencing overall survival (OS), event-free survival (EFS), and progression-free survival (PFS) in patients with medulloblastoma.
METHODS
PubMed, EMBASE, the Cochrane Library, and Web of Science were searched for studies published up to May 2021. The associations between various clinical and treatment factors and survival parameters were assessed.
RESULTS
Twenty-nine studies (8455 patients) were included. Desmoplastic medulloblastoma (HR=0.41, 95%CI: 0.31-0.56), M0 disease (HR=2.07, 95%CI: 1.48-2.89), WNT, SSH, group 4 (all P<0.05 vs. group 3), GTR vs. STR (HR=1.37, 95%CI: 1.04-1.08), radiotherapy (HR=0.45, 95%CI: 0.20-0.80), craniospinal irradiation (HR=0.49, 95%CI: 0.38-0.64), and high 5hmC levels (HR=2.90, 95%CI: 1.85-4.55) were associated with a better OS. WNT, SSH, group 4 (all P<0.05 vs. group 3), residual tumor ≤1.5 cm (HR=2.08, 95%CI: 1.18-3.68), GTR vs. STR (HR=1.31, 95%CI: 1.03-1.68), craniospinal irradiation (HR=0.46, 95%CI: 0.37-0.57), high 5hmC levels (HR=3.10, 95%CI: 2.01-4.76), and <49 days between resection and radiotherapy (HR=2.54, 95%CI: 1.48-4.37) were associated with better PFS. Classic vs. desmoplastic medulloblastoma (HR=1.81, 95%CI: 1.04-3.16), SSH, WNT (both P<0.05 vs, non-SSH/non-WNT), GTR vs. STR (HR=2.01, 95%CI: 1.42-2.85), and radiotherapy (HR=0.31, 95%CI: 0.15-0.64) were associated with a better EFS.
CONCLUSION
Histology, molecular subgroup, GTR, and radiotherapy are significantly associated with survival parameters in patients with medulloblastoma. Nevertheless, high-quality prospective cohort studies are necessary to improve the conclusions.
PubMed: 35311074
DOI: 10.3389/fonc.2022.827054 -
Neuro-oncology Apr 2022Detailed prevalence estimates of BRAFV600 mutations and BRAF inhibitor (BRAFi) treatment responses in V600-mutant glioma will inform trial development.
BACKGROUND
Detailed prevalence estimates of BRAFV600 mutations and BRAF inhibitor (BRAFi) treatment responses in V600-mutant glioma will inform trial development.
METHODS
Our systematic review analyzed overall prevalence of BRAFV600 mutations in glioma and BRAFi treatment response.
RESULTS
Based on 13 682 patients in 182 publications, the prevalence of BRAFV600 in epithelioid glioblastoma (eGBM) was 69% [95% CI: 45-89%]; pleomorphic xanthoastrocytoma (PXA): 56% [48-64%] anaplastic pleomorphic xanthoastrocytoma (aPXA): 38% [23-54%], ganglioglioma (GG): 40% [33-46%], and anaplastic ganglioglioma (aGG): 46% [18-76%]. Prevalence in astroblastoma was 24% [8-43%], desmoplastic infantile astrocytoma (DIA): 16% [0-57%], subependymal giant cell astrocytoma (SEGA): 8% [0-37%], dysembryoplastic neuroepithelial tumor (DNET): 3% [0-11%], diffuse astrocytoma (DA): 3% [0-9%], and pilocytic astrocytoma (PA): 3% [2-5%]. We reviewed 394 V600-mutant gliomas treated with BRAFi from 130 publications. One hundred and twenty-nine pediatric low-grade gliomas showed 4 (3.1%) complete response (CR); 53 (41.1%) partial response (PR); 64 (49.6%) stable disease (SD) and 8 (6.2%) progressive disease (PD). 25 pediatric high-grade gliomas showed CR; PR; SD; PD in 4 (16.0%); 10 (40.0%), 4 (16.0%); and 7 (28.0%) respectively. Thirty-nine adult low-grade gliomas showed CR; PR; SD; PD of 4 (10.3%); 17 (43.6%); 16 (41.0%) and 2 (5.1%) respectively. Ninety-seven adult high-grade gliomas showed CR; PR; SD; PD of 6 (6.2%); 31 (32.0%); 27 (27.8%); and 33 (34.0%) respectively.
CONCLUSIONS
BRAFV600 prevalence is highest in eGBM, PXA, aPXA, GG, aGG, and lower in astroblastoma, DIA, SEGA, DNET, DA, and PA. Our data provide the rationale for adjuvant clinical trials of BRAFi in V600-mutant glioma.
Topics: Adult; Astrocytoma; Brain Neoplasms; Child; Glioma; Humans; Mutation; Prevalence; Proto-Oncogene Proteins B-raf
PubMed: 34718782
DOI: 10.1093/neuonc/noab247 -
Journal of Neuro-oncology Nov 2021Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile ganglioglioma (DIG) are classified together as grade I neuronal and mixed neuronal-glial tumor of the... (Meta-Analysis)
Meta-Analysis
PURPOSE
Desmoplastic infantile astrocytoma (DIA) and desmoplastic infantile ganglioglioma (DIG) are classified together as grade I neuronal and mixed neuronal-glial tumor of the central nervous system by the World Health Organization (WHO). These tumors are rare and have not been well characterized in terms of clinical outcomes. We aimed to identify clinical predictors of mortality and tumor recurrence/progression by performing an individual patient data meta-analysis (IPDMA) of the literature.
METHODS
A systematic literature review from 1970 to 2020 was performed, and individualized clinical data for patients diagnosed with DIA/DIG were extracted. Aggregated data were excluded from collection. Outcome measures of interest were mortality and tumor recurrence/progression, as well as time-to-event (TTE) for each of these. Participants without information on these outcome measures were excluded. Cox regression survival analyses were performed to determine predictors of mortality and tumor recurrence / progression.
RESULTS
We identified 98 articles and extracted individual patient data from 188 patients. The cohort consisted of 58.9% males with a median age of 7 months. The majority (68.1%) were DIGs, while 24.5% were DIAs and 7.5% were non-specific desmoplastic infantile tumors; DIAs presented more commonly in deep locations (p = 0.001), with leptomeningeal metastasis (p = 0.001), and was associated with decreased probability of gross total resection (GTR; p = 0.001). Gender, age, and tumor pathology were not statistically significant predictors of either mortality or tumor recurrence/progression. On multivariate survival analysis, GTR was a predictor of survival (HR = 0.058; p = 0.007) while leptomeningeal metastasis at presentation was a predictor of mortality (HR = 3.27; p = 0.025). Deep tumor location (HR = 2.93; p = 0.001) and chemotherapy administration (HR = 2.02; p = 0.017) were associated with tumor recurrence/progression.
CONCLUSION
Our IPDMA of DIA/DIG cases reported in the literature revealed that GTR was a predictor of survival while leptomeningeal metastasis at presentation was associated with mortality. Deep tumor location and chemotherapy were associated with tumor recurrence / progression.
Topics: Astrocytoma; Brain Neoplasms; Female; Ganglioglioma; Humans; Infant; Male; Meningeal Carcinomatosis; Neoplasm Recurrence, Local
PubMed: 34613581
DOI: 10.1007/s11060-021-03860-1 -
Frontiers in Oncology 2021Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare and highly malignant soft tissue neoplasm, which is characterized by rapid progression and poor...
Intra-abdominal desmoplastic small round cell tumor (IDSRCT) is a rare and highly malignant soft tissue neoplasm, which is characterized by rapid progression and poor prognosis. The mechanism underlying the development of this neoplasm remains elusive, but all cases are characterized by the chromosomal translocation t (11;22) (p13; q12), which results in a formation of EWSR1-WT1 gene fusion. The diagnosis of IDSRCT is often made with core-needle tissue biopsy specimens or laparoscopy or laparotomy. Immunohistochemical analyses have shown the co-expression of epithelial, neuronal, myogenic, and mesenchymal differentiation markers. FISH or reverse transcription polymerase chain reaction detecting EWS-WT1 fusion can be performed to assist in molecular confirmation. There is no standard of care for patients with IDSRCT currently, and majority of newly diagnosed patients received the aggressive therapy, which includes >90% resection of surgical debulking, high-dose alkylator-based chemotherapy, and radiotherapy. More recently, targeted therapy has been increasingly administered to recurrent IDSRCT patients and has been associated with improved survival in clinical conditions. Immunotherapy as a possible therapeutic strategy is being explored in patients with IDSRCT. In this review, we summarize currently available knowledge regarding the epidemiology, potential mechanisms, clinical manifestations, diagnosis, treatment, and prognosis of IDSRCT to assist oncologists in comprehensively recognizing and accurately treating this malignancy.
PubMed: 34604040
DOI: 10.3389/fonc.2021.705760 -
JPMA. the Journal of the Pakistan... Dec 2020To review evidence-based data on spontaneous retrogression of low-grade gliomas with respect to interval till regression, type of glioma and patient outcome. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To review evidence-based data on spontaneous retrogression of low-grade gliomas with respect to interval till regression, type of glioma and patient outcome.
METHODS
The systematic review comprised medical literature in English language published from January 1997 to January 2017 on Scopus, PubMed and Google Scholar databases to establish consensus about the possible mechanism of spontaneous regression, the role of therapeutic intervention and failure of management strategies in low-grade gliomas. Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines were followed during the review.
RESULTS
Of the 176 articles identified, 73(41.5%) were shortlisted for detailed assessment. Of them, 10(13.7%) were included; 5(50%) case reports and 5(50%) case series. There were 23 cases of spontaneous regression; 15(65.2%) males and 8(34.7%) females. The interval of regression varied from 3 months to 15.5 years, and the most commonly presenting low-grade glioma type was optic pathway glioma 11(47.4%).
CONCLUSIONS
The phenomenon of regression was most evident in optic pathway glioma. Literature suggested that low-grade gliomas should undergo serial imaging before implying any therapeutic intervention. However, the evidencebased proof, large-scale experimental studies and ethical considerations are still required to standardise this strategy.
Topics: Astrocytoma; Brain Neoplasms; Consensus; Female; Glioma; Humans; Language; Male
PubMed: 33475560
DOI: 10.47391/JPMA.581 -
JAMA Dermatology Apr 2020The clinical and dermoscopic features of the vast majority of uncommon variants of cutaneous melanoma have been rarely reported, leading to difficulty in making accurate...
IMPORTANCE
The clinical and dermoscopic features of the vast majority of uncommon variants of cutaneous melanoma have been rarely reported, leading to difficulty in making accurate diagnoses.
OBJECTIVE
To define the main clinical and dermoscopic features of the most frequently reported but uncommon histologic variants of cutaneous melanoma.
EVIDENCE REVIEW
A 2-step systematic review of the literature was performed (from inception to November 2018) using PubMed, Embase, and Cochrane Central Register of Controlled Trials databases. The first step identified those uncommon variants of melanoma for which at least 1 case reporting dermoscopy was described in the literature. The keywords searched were melanoma, uncommon, rare, dermoscopy, and dermatoscopy. In the second step, each previously identified uncommon variant was searched for in the same databases by combining the following terms with melanoma, dermoscopy, and dermatoscopy: amelanotic, hypopigmented, animal, melanocytoma, balloon, desmoplastic, follicular, nested, nevoid, dermal, spitz*, spindle, and verrucous. The institution's database was also searched from January 2012 to September 2019 for histopathologically confirmed cases of the same melanoma variants. Each reviewer also assessed the quality of reporting in the included articles based on previously described guidelines.
FINDINGS
In total, 62 articles met the inclusion criteria, reporting 433 melanoma cases. An additional 56 cases of uncommon melanoma variants were retrieved from the institution's database for a total of 489 cases: 283 cases of amelanotic superficial spreading melanoma, 18 cases of animal-type and pigmented epithelioid melanocytoma, 7 cases of balloon cell melanoma, 71 cases of desmoplastic melanoma, 3 cases of follicular melanoma, 10 cases of nested melanoma, 33 cases of nevoid melanoma, 2 cases of primary dermal melanoma, 57 cases of spitzoid melanoma, and 5 cases of verrucous melanoma. These variants of melanoma occurred more frequently in women than men (147 cases vs 132 cases). Clinically, these tumors were mainly palpable (162 of 217 [74.7%]) or amelanotic (283 of 489 [57.9%]) lesions that could resemble other benign or malignant skin conditions; dermoscopy typically revealed a homogeneous pinkish background, white structures, and polymorphic vessels. The mean age of all included was 58 years (range, 1-89 years).
CONCLUSIONS AND RELEVANCE
Uncommon melanoma variants may resemble both inflammatory disorders and other cutaneous neoplasms, representing a diagnostic pitfall even for the most experienced dermatologist. The purpose of this systematic review was to provide an extensive and detailed overview of specific clinical and dermoscopic features of each uncommon melanoma variant, highlighting the main criteria for differentiating these variants from other benign or malignant skin lesions.
Topics: Dermoscopy; Diagnosis, Differential; Humans; Melanoma; Skin Diseases; Skin Neoplasms
PubMed: 32101255
DOI: 10.1001/jamadermatol.2019.4912