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1.
Cureus ; 16(4): e59087, 2024 Apr.
Article in English | MEDLINE | ID: mdl-38803760

ABSTRACT

Squamous cell carcinoma (SCC) is the second most common type of skin cancer. As ultraviolet exposure represents an important risk factor, SCC commonly occurs on the face, lips, scalp, hands, and heels. The foot is an unusual location to manifest SCC. In this report, we present a case of a 44-year-old woman with severe local recurrence of SCC in the right heel, four years after an initial excision of a primary, small lesion. For various reasons, the patient did not visit the clinic for follow-up assessment during this period. Considering the extent of the lesion and infection risk, the affected leg was amputated at one-third of the lower leg. This case report underlines the importance of educating patients about the risk of SCC and assisting them in attending follow-up visits. In addition, adequate attention should be given to foot lesions with suspicious appearance. Early detection would minimize systemic risks, including metastasis and infection, and maximize preserved function after surgical intervention.

2.
Radiat Environ Biophys ; 63(1): 71-80, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38078988

ABSTRACT

This study aims to compare dose escalation between two groups of reirradiated cancer patients, one with the previous contour and radiotherapy plan available on the treatment planning system and the other without. First group is identified as DICOM-group, while the other one is called non-DICOM group. The current study included 89 patients, 57 in the DICOM, and 32 in the non-DICOM group, who received reirradiation for recurrent or second primary tumours between 2019 and 2021. For the DICOM group, doses to 0.2cc volume for spine, brainstem, and optic apparatus from first radiation were converted into structures and transferred to reirradiation CT using deformable registration. First, one radiotherapy plan was created using the doctor prescribed dose (baseline prescription RxD_B); further an escalated dose (RxD_E) plan, taking into account all the dose volume parameters from previous radiation, was created only for DICOM group. In non-DICOM group patients were planned only for RxD_B. The maximum accepted dose escalation was 21 Gy. Radiotherapy prescription dose during earlier (first) treatment in DICOM and non-DICOM groups were 61 ± 5.6 Gy and 30-66 Gy, respectively. DICOM and non-DICOM groups had nearly identical baseline doses: 52.5 ± 10.7 Gy and 50.6 ± 6.9 Gy (difference 1.9 ± 12.7 Gy). Dose escalation was possible for 51 out of 57 patients in the DICOM-group. Average escalated dose in DICOM-group was 59.2 ± 6.2 Gy, with an incremental dose of 6.7 ± 12.4 Gy from the baseline prescription. No dose escalation was opted for in the non-DICOM group due to the unavailability of dose volume information from previous radiation. Reirradiation for head and neck cases allowed for a moderate to high dose escalation, facilitated by the presence of pertinent DICOM information from the initial radiotherapy.


Subject(s)
Neoplasms , Radiotherapy Planning, Computer-Assisted , Humans , Radiotherapy Dosage , Neoplasms/radiotherapy
3.
Cancer Sci ; 115(1): 94-108, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37962061

ABSTRACT

Analysis of T-cell receptor (TCR) repertoires in different stages of hepatocellular carcinoma (HCC) might help to elucidate its pathogenesis and progression. This study aimed to investigate TCR profiles in liver biopsies and peripheral blood mononuclear cells (PBMCs) in different Barcelona Clinic liver cancer (BCLC) stages of HCC. Ten patients in early stage (BCLC_A), 10 patients in middle stage (BCLC_B), and 10 patients in late stage (BCLC_C) cancer were prospectively enrolled. The liver tumor tissues, adjacent tissues, and PBMCs of each patient were collected and examined by TCR ß sequencing. Based on the ImMunoGeneTics (IMGT) database, we aligned the V, D, J, and C gene segments and identified the frequency of CDR3 sequences and amino acids sequence. Diversity of TCR in PBMCs was higher than in both tumor tissues and adjacent tissues, regardless of BCLC stage and postoperative recurrence. TCR clonality was increased in T cells from peripheral blood in advanced HCC, compared with the early and middle stages. No statistical differences were observed between different BCLC stages, either in tumors or adjacent tissues. TCR clonality revealed no significant difference between recurrent tumor and non-recurrent tumor, therefore PBMCs was better to be representative of TCR characteristics in different stages of HCC compared to tumor tissues. Clonal expansion of T cells was associated with low risk of recurrence in HCC patients.


Subject(s)
Carcinoma, Hepatocellular , Liver Neoplasms , Humans , Carcinoma, Hepatocellular/pathology , Liver Neoplasms/pathology , Leukocytes, Mononuclear/pathology , Treatment Outcome , Neoplasm Staging , Neoplasm Recurrence, Local/genetics , Neoplasm Recurrence, Local/pathology , Receptors, Antigen, T-Cell/genetics , Retrospective Studies
4.
Ultrasound Obstet Gynecol ; 63(3): 399-407, 2024 03.
Article in English | MEDLINE | ID: mdl-37774092

ABSTRACT

OBJECTIVE: To describe the clinical and ultrasound characteristics of recurrent granulosa cell and Sertoli-Leydig cell tumors. METHODS: This was a retrospective observational study performed at Fondazione Policlinico Universitario A. Gemelli, Istituto di Ricovero e Cura a Carattere Scientifico, IRCCS, Rome (Gemelli center), Italy. Patients with a histological diagnosis of recurrent granulosa cell tumor or Sertoli-Leydig cell tumor were identified from the database of the Department of Gynecological Oncology. Those who had undergone a preoperative ultrasound examination at the Gemelli center between 2012 and 2020 were included, and the data retrieved from the original ultrasound reports. In all of these reports, the recurrent tumors were described using International Ovarian Tumor Analysis (IOTA) terminology. If a patient had more than one episode of relapse, information from all episodes was collected. If there was more than one recurrent tumor at the same ultrasound examination, all tumors were included. One expert sonographer also reviewed all available ultrasound images to identify typical ultrasound patterns using pattern recognition. RESULTS: We identified 30 patients with a histological diagnosis of recurrent granulosa cell tumor (25 patients, 55 tumors) or Sertoli-Leydig cell tumor (five patients, seven tumors). All 30 had undergone at least one preoperative ultrasound examination at the Gemelli center and were included. These women had a total of 66 episodes of relapse, of which a preoperative ultrasound examination had been performed at the Gemelli center in 34, revealing 62 recurrent lesions: one in 22/34 (64.7%) episodes of relapse, two in 4/34 (11.8%) episodes and three or more in 8/34 (23.5%) episodes. Most recurrent granulosa cell tumors (38/55, 69.1%) and recurrent Sertoli-Leydig tumors (6/7, 85.7%) were classified as solid or multilocular-solid tumors, while 8/55 (14.5%) recurrent granulosa cell tumors and 1/7 (14.3%) recurrent Sertoli-Leydig cell tumors were unilocular cysts and 9/55 (16.4%) recurrent granulosa cell tumors were multilocular cysts. The nine unilocular cysts had contents that were anechoic (n = 2) or had low-level echogenicity (n = 7), had either smooth (n = 4) or irregular (n = 5) internal cyst walls, and ranged in largest diameter from 8 to 38 mm, with three being < 20 mm and five being 20-30 mm. On retrospective review of the images, two typical ultrasound patterns were described: small solid tumor measuring < 2 cm (15/62, 24.2%) and tumor with vascularized echogenic ground-glass-like content (12/62, 19.4%). CONCLUSIONS: Some granulosa cell and Sertoli-Leydig cell recurrences manifest one of two typical ultrasound patterns, while some appear as unilocular cysts. These are usually classified as benign, but in patients being followed up for a granulosa cell tumor or Sertoli-Leydig cell tumor, a unilocular cyst should be considered suspicious of recurrence. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.


Subject(s)
Cysts , Genital Diseases, Female , Granulosa Cell Tumor , Ovarian Neoplasms , Sertoli-Leydig Cell Tumor , Sex Cord-Gonadal Stromal Tumors , Pregnancy , Male , Humans , Female , Sertoli-Leydig Cell Tumor/diagnostic imaging , Granulosa Cell Tumor/diagnostic imaging , Neoplasm Recurrence, Local/diagnostic imaging , Ultrasonography , Ovarian Neoplasms/diagnostic imaging , Sex Cord-Gonadal Stromal Tumors/diagnostic imaging , Recurrence , Stromal Cells
5.
Cureus ; 15(10): e46587, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37933349

ABSTRACT

Oxidized regenerated cellulose, commonly known by the brand name Surgicel®, is a hemostatic agent widely used in various surgical procedures. While it is generally considered safe and effective, there have been reports of complications associated with its use, including the formation of pseudotumoral lesions. This article presents a case of a patient who developed a Surgicel® granuloma in the thyroid bed, mimicking a recurrent tumor. Surgicel® is known to cause a chronic inflammatory reaction, leading to foreign body giant cell formation and fibroblastic proliferation. Fine-needle aspiration (FNA) cytology is a valuable diagnostic tool for identifying pseudotumoral lesions caused by oxidized cellulose. The characteristic appearance of oxidized cellulose fragments and the presence of a granulomatous reaction can help distinguish these lesions from tumor recurrence or abscesses. To prevent Surgicel® granuloma, it is recommended to use the minimal amount necessary to achieve hemostasis. It is also important to document its use in the operative report. In cases where a recurrent mass lesion is suspected postoperatively, a comprehensive medical history, imaging studies, and FNA are essential for accurate diagnosis and management. This case report highlights the importance of considering Surgicel®-induced granuloma in the differential diagnosis of recurrent thyroid-bed tumors. A correct diagnosis can help avoid unnecessary aggressive interventions, particularly in cancer patients.

6.
Asian J Urol ; 10(4): 390-406, 2023 Oct.
Article in English | MEDLINE | ID: mdl-38024426

ABSTRACT

Objective: Robot-assisted partial nephrectomy (RAPN) has become widely used for treatment of renal cell carcinoma and it is expanding in the field of complex renal masses. The aim of this systematic review was to analyze outcomes of RAPN for completely endophytic renal masses, large tumors (cT2-T3), renal cell carcinoma in solitary kidney, recurrent tumors, completely endophytic and hilar masses, and simultaneous and multiple tumors. Methods: A comprehensive search in the PubMed, Scopus, Web of Science, and Cochrane Central Register of Controlled Trials databases was performed in December 2022 for English language papers. The primary endpoint was to evaluate the role of RAPN in the setting of each category of complex renal masses considered. The secondary endpoint was to evaluate the surgical and functional outcomes. Results: After screening 1250 records, 43 full-text manuscripts were selected, comprising over 8500 patients. Twelve and thirteen studies reported data for endophytic and hilar renal masses, respectively. Five and three studies reported outcomes for cT2-T3 and solitary kidney patients, respectively. Four studies focused on redo-RAPN for recurrent tumors. Two studies investigated simultaneous bilateral renal masses and five reports focused on multiple tumor excision in ipsilateral kidney. Conclusion: Over the past decade, evidence supporting the use of RAPN for the most challenging nephron-sparing surgery indications has continuously grown. Although limitations remain including study design and lack of detailed long-term functional and oncological outcomes, the adoption of RAPN for the included advanced indications is associated with favorable surgical outcomes with good preservation of renal function without compromising the oncological result. Certainly, a higher likelihood of complication might be expected when facing extremely challenging cases. However, none of these indications should be considered per se an exclusion criterion for performing RAPN. Ultimately, a risk-adapted approach should be employed.

7.
Mol Clin Oncol ; 19(4): 84, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37808248

ABSTRACT

Aggressive fibromatosis is a rare clonal proliferative tumor arising from mesenchymal cells in the fascia and musculoaponeurotic structures. The aim of the present study was to describe several cases of extra-abdominal recurrent aggressive fibromatosis. The present study was a single-center retrospective case series of patients with recurrent aggressive fibromatosis. The cases were managed at a single private facility. A total of 9 patients with recurrent fibromatosis were included. The mean and median ages of the patients were 29 and 30 years, respectively. In total, two thirds (66.67%) of the cases were female. A negative previous medical history was reported in 7 cases (77.7%), and diabetes and hypertension were reported in 1 case (11.1%). Overall, only 1 case (11.1%) had a family history of breast fibromatosis. The time interval between primary tumor resection and recurrent presentation was 28 months. In 6 cases (66.7%), the tumor was located in the extremities. Pain was the most common presenting symptom in 6 cases (66.7%). All patients had their recurring tumor surgically removed, followed by radiation in 5 cases. The resection margin was positive in 4 cases (44.4%). Each patient was subjected to a careful three-month follow-up for recurrences. On the whole, the present study demonstrates that despite the fact that several therapeutic approaches for extra-abdominal recurrent aggressive fibromatosis have been described in the literature, there is a significant likelihood of recurrence following resection.

8.
Cancers (Basel) ; 15(20)2023 Oct 20.
Article in English | MEDLINE | ID: mdl-37894449

ABSTRACT

Large fractions of radiotherapy of 8 Gy (ultra-hypofractionated RT, ultra-hypoRT) promote anti-tumor immune responses that have been clinically substantiated in combination trials with immune checkpoint inhibitors (ICIs). In the current study, we postulated that ultra-hypoRT in combination with ICIs may enhance tumor clearance in NSCLC patients with locoregional relapse after radical chemo-RT. Between 2019 and 2021, eleven patients received re-irradiation with one or two fractions of 8 Gy concurrently with anti-PD1 immunotherapy (nivolumab or pembrolizumab). RT-related toxicities were negligible, while immune-related adverse events enforced immunotherapy interruption in 36% of patients. The overall response rate was 81.8%. Tumor reduction between 80 and 100% was noted in 63.5% of patients. Within a median follow-up of 22 months, the locoregional relapse-free rate was 54.5%, while the projected 2-year disease-specific overall survival was 62%. The results were independent of PD-L1 status. The current report provides encouraging evidence that a relatively low biological dose of RT delivered with 8 Gy fractions is feasible and can be safely combined with anti-PD-1 immunotherapy. Despite the low number of patients, the significant tumor regression achieved and the long-lasting locoregional control and overall progression-free intervals provide a basis to pursue immuno-RT trials with U-hypoRT schemes in this group of NSCLC patients of poor prognosis.

9.
Int J Mol Sci ; 24(17)2023 Aug 30.
Article in English | MEDLINE | ID: mdl-37686276

ABSTRACT

The majority of glioblastomas (GBMs) recur shortly after tumor resection and recurrent tumors differ significantly from newly diagnosed GBMs, phenotypically and genetically. In this study, using a Gl261-C57Bl/6 mouse glioma implantation model, we identified significant upregulation of proline-rich tyrosine kinase Pyk2 and focal adhesion kinase (FAK) phosphorylation levels-pPyk2 (579/580) and pFAK (925)-without significant modifications in total Pyk2 and FAK protein expression in tumors regrown after surgical resection, compared with primary implanted tumors. Previously, we demonstrated that Pyk2 and FAK are involved in the regulation of tumor cell invasion and proliferation and are associated with reduced overall survival. We hypothesized that the use of inhibitors of Pyk2/FAK in the postsurgical period may reduce the growth of recurrent tumors. Using Western blot analysis and confocal immunofluorescence approaches, we demonstrated upregulation of Cyclin D1 and the Ki67 proliferation index in tumors regrown after resection, compared with primary implanted tumors. Treatment with Pyk2/FAK inhibitor PF-562271, administered through oral gavage at 50 mg/kg daily for two weeks beginning 2 days before tumor resection, reversed Pyk2/FAK signaling upregulation in recurrent tumors, reduced tumor volume, and increased animal survival. In conclusion, the use of Pyk2/FAK inhibitors can contribute to a delay in GBM tumor regrowth after surgical resection.


Subject(s)
Glioblastoma , Glioma , Mice , Animals , Glioblastoma/drug therapy , Glioblastoma/genetics , Mice, Inbred C57BL , Focal Adhesion Kinase 2/genetics , Embryo Implantation
10.
Acta Neuropathol ; 146(3): 527-541, 2023 09.
Article in English | MEDLINE | ID: mdl-37450044

ABSTRACT

Atypical teratoid/rhabdoid tumors (AT/RT) are the most common malignant brain tumors manifesting in infancy. They split into four molecular types. The major three (AT/RT-SHH, AT/RT-TYR, and AT/RT-MYC) all carry mutations in SMARCB1, the fourth quantitatively smaller type is characterized by SMARCA4 mutations (AT/RT-SMARCA4). Molecular characteristics of disease recurrence or metastatic spread, which go along with a particularly dismal outcome, are currently unclear. Here, we investigated tumor tissue from 26 patients affected by AT/RT to identify signatures of recurrences in comparison with matched primary tumor samples. Microscopically, AT/RT recurrences demonstrated a loss of architecture and significantly enhanced mitotic activity as compared to their related primary tumors. Based on DNA methylation profiling, primary tumor and related recurrence were grossly similar, but three out of 26 tumors belonged to a different molecular type or subtype after second surgery compared to related primary lesions. Copy number variations (CNVs) differed in six cases, showing novel gains on chromosome 1q or losses of chromosome 10 in recurrences as the most frequent alterations. To consolidate these observations, our cohort was combined with a data set of unmatched primary and recurrent AT/RT, which demonstrated chromosome 1q gain and 10 loss in 18% (n = 7) and 11% (n = 4) of the recurrences (n = 38) as compared to 7% (n = 3) and 0% (n = 0) in the primary tumors (n = 44), respectively. Similar to the observations made by DNA methylation profiling, RNA sequencing of our cohort revealed AT/RT primary tumors and matched recurrences clustering closely together. However, a number of genes showed significantly altered expression in AT/RT-SHH recurrences. Many of them are known tumor driving growth factors, involved in embryonal development and tumorigenesis, or are cell-cycle-associated. Overall, our work identifies subtle molecular changes that occur in the course of the disease and that may help define novel therapeutic targets for AT/RT recurrences.


Subject(s)
DNA Copy Number Variations , Disease Progression , Epigenesis, Genetic , Gene Expression Profiling , Recurrence , Rhabdoid Tumor , Teratoma , Child , Child, Preschool , Female , Humans , Infant , Male , Chromosomes, Human, Pair 1/genetics , Chromosomes, Human, Pair 10/genetics , Cohort Studies , Dendritic Cells , DNA Copy Number Variations/genetics , DNA Methylation , Histology , Mitosis , Rhabdoid Tumor/classification , Rhabdoid Tumor/genetics , Rhabdoid Tumor/immunology , Rhabdoid Tumor/pathology , Sequence Analysis, RNA , Teratoma/classification , Teratoma/genetics , Teratoma/immunology , Teratoma/pathology , Transcription Factors/genetics , Gene Expression Regulation, Neoplastic/genetics
11.
Front Oncol ; 13: 1157584, 2023.
Article in English | MEDLINE | ID: mdl-37260976

ABSTRACT

Introduction: The study assessed outcomes and toxicities of different treatment modalities for local and/or regional recurrent nasopharyngeal carcinoma (NPC) in a non-endemic area. Methods: Patients treated with curative intent for recurrent NPC with salvage surgery, photon-based radiotherapy, proton therapy (PT), with or without chemotherapy, at different Italian referral centers between 1998 and 2020 were included. Adverse events and complications were classified according to the Common Terminology Criteria for Adverse Events. Characteristics of the patients, tumors, treatments, and complications are presented along with uni- and multivariate analysis of prognostic factors. A survival predictive nomogram is also provided. Results: A total of 140 patients treated from 1998 to 2020 were retrospectively assessed. Cases with lower age, comorbidity rate, stage, and shorter disease-free interval (DFI) preferentially underwent endoscopic surgery. More advanced cases underwent re-irradiation, fairly distributed between photon-based radiotherapy and PT. Age and DFI were independent factors influencing overall survival. No independent prognostic effect of treatment modality was observed. No significant difference in the morbidity profile of treatments was observed, with 40% of patients experiencing at least one adverse event classified as G3 or higher. Conclusion: Recurrent NPC in a non-endemic area has dissimilar aspects compared to its endemic counterpart, suggesting the need for further studies that can guide the choice of the best treatment modality.

12.
Cureus ; 14(6): e26363, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35911351

ABSTRACT

Pleomorphic adenoma is the most common kind of major tumor of the major and minor salivary organs. Although pleomorphic adenoma is a benign tumor, it has a high chance of recurrence and malignancy. In the literature, lower rates of repetitive pleomorphic adenoma of the sense of taste have been detailed while the palate is a common location for an intraoral pleomorphic adenoma. Recurring tumors have been associated with a high risk of malignancy, and surgical excision is the basic treatment option for recurrent adenomas. Revision surgery is quite challenging and has never been standardized. We report a rare case of recurrent pleomorphic adenoma of the palate that occurred 7.5 years after primary ablation.

14.
Ann Palliat Med ; 11(6): 1855-1864, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35272473

ABSTRACT

BACKGROUND: Preoperative whole pelvic radiation therapy (RT) is used commonly for rectal cancer and is the standard field postoperatively in gynecological cancer. However, the ideal field (local vs. whole pelvis) has not been determined for local recurrence of these cancers. METHODS: We retrospectively reviewed the data for 52 patients who developed local tumor recurrence of rectal or gynecological cancer treated from 2013 to 2021. The initial treatment for all patients was total excision of the primary tumors without radiation therapy. Radiation therapy targets were surgical stumps, perianastomosis sites, and pelvic lymph nodes, classified according to the pelvic nodal volume atlas for radiation therapy. Patients were divided into the local recurrent tumor only radiation therapy group and the whole pelvis radiation therapy group. Whole pelvis radiation therapy included the common iliac lymph nodes or prophylactic lymph nodes below the L5/S1 junction. We recorded second recurrence after RT and the affected site(s) in each group. We also compared disease-specific survival using uni- and multivariate analyses. RESULTS: We found no significant differences between the groups regarding second recurrence or regarding the site(s) of recurrence. We also found no significant differences in disease-specific survival between the two RT groups. However, patients who did not receive chemotherapy after the initial surgery and before RT had significantly longer survival (P=0.015). CONCLUSIONS: In patients with locally recurrent rectal or gynecological cancer, we found no significant difference in second recurrence or survival between the local tumor only RT field and the whole pelvic RT field.


Subject(s)
Pelvis , Rectal Neoplasms , Humans , Lymph Nodes/pathology , Neoplasm Recurrence, Local/drug therapy , Neoplasm Staging , Pelvis/pathology , Pelvis/radiation effects , Rectal Neoplasms/pathology , Rectal Neoplasms/radiotherapy , Retrospective Studies
15.
Prog Brain Res ; 268(1): 259-270, 2022.
Article in English | MEDLINE | ID: mdl-35074084

ABSTRACT

GKNS has a limited role in the management of malignant gliomas. It has little or nothing to offer in primary treatment. However, there is evidence that with recurrent tumors which are 4cm in diameter or less, in younger patients, GKNS used together with bevacizumab can prolong overall survival. Nonetheless, more research is required to determine the precise role of the technique.


Subject(s)
Astrocytoma , Brain Neoplasms , Glioblastoma , Glioma , Astrocytoma/pathology , Brain Neoplasms/pathology , Brain Neoplasms/therapy , Glioblastoma/pathology , Glioma/pathology , Glioma/therapy , Humans , Neoplasm Recurrence, Local
16.
Head Neck Pathol ; 16(2): 550-559, 2022 Jun.
Article in English | MEDLINE | ID: mdl-34224080

ABSTRACT

Primordial odontogenic tumor (POT) is a rare, mixed odontogenic neoplasm composed of spindled and stellate-shaped cells in myxoid stroma resembling dental papilla, surfaced by cuboidal-to-columnar odontogenic epithelium. Most POTs present in the posterior mandible as a well-demarcated radiolucency associated with a developing tooth in children and adolescents. POT is treated conservatively with no recurrences documented to-date. To describe the clinicopathological features of a recurrent POT. A 19-year-old female presented with an asymptomatic swelling, and panoramic radiograph revealed a multiloculated radiolucency in the mandibular body and ramus, with buccal and lingual perforation. The tumor was composed of plump spindle and stellate cells in a delicately collagenous and myxoid stroma, surfaced by columnar epithelial cells with reverse nuclear polarization. There was extensive epithelial proliferation forming invaginations within the tumor mass and organoid/enamel organ-like structures with enameloid-like deposits, dentinoid, and dystrophic calcifications. This was similar to the POT that had been excised four years prior from the same location. The patient underwent hemi-mandibulectomy and currently is free of disease at a thirteen-month follow-up. This report describes the first recurrent POT exhibiting extensive epithelial proliferation.


Subject(s)
Odontogenic Tumors , Adolescent , Adult , Child , Epithelium/pathology , Female , Humans , Mandible/pathology , Odontogenic Tumors/pathology , Young Adult
17.
World Neurosurg ; 158: 152-155, 2022 02.
Article in English | MEDLINE | ID: mdl-34838771

ABSTRACT

BACKGROUND: Endoscopic surgery is widely used for intraventricular and skull base tumor resections; however, its utility is not limited to deep parts of the brain. METHODS: A 73-year-old female presented with left-side hemiparesis and seizures due to a relapsed atypical meningioma of convexity. The tumor was located just under a synthetic bone substitute and was covered by a delicate myocutaneous free flap, preventing the usual skin incision route to approach the lesion. RESULTS: The tumor was successfully removed using an endoscope without damaging the flap. CONCLUSIONS: With the aid of an endoscope, a superficial meningioma could be removed with the affected dura through a small craniotomy.


Subject(s)
Free Tissue Flaps , Meningeal Neoplasms , Meningioma , Aged , Brain/pathology , Female , Humans , Meningeal Neoplasms/pathology , Meningeal Neoplasms/surgery , Meningioma/pathology , Meningioma/surgery , Neoplasm Recurrence, Local/surgery
18.
Curr Issues Mol Biol ; 43(3): 2266-2275, 2021 Dec 17.
Article in English | MEDLINE | ID: mdl-34940133

ABSTRACT

Paragangliomas (PGLs) are rare neuroendocrine tumors that can develop from any paraganglion across the body. The carotid body is the most often location of PGLs in the head and neck region. Carotid PGLs (CPGLs) are characterized by predominantly non-aggressive behavior; however, all tumors have the potential to metastasize. To date, molecular mechanisms of paraganglioma progression remain elusive. We report a case of a 38-year-old woman with metastatic CPGL manifesting as a recurrent tumor with lymph node metastasis. The tumor was fast-growing and had a high Ki-67 proliferation index. Immunohistochemical (IHC) examination and whole-exome sequencing were performed for both recurrent tumor and metastasis. A germline pathogenic splice acceptor variant in the SDHB gene was found in the patient. Immunoreactivity of the SDHB subunit was weak diffuse in both samples, indicating deficiency of the succinate dehydrogenase. Moreover, the recurrent tumor exhibited loss of heterozygosity (LOH) at the SDHB locus, that is according to Knudson's "two-hit" hypothesis of cancer causation. We also identified a rare somatic promotor mutation in the TERT gene associated with the tumor progression. Obtained results confirmed the indicative role of the germline SDHB mutation for metastatic CPGLs, as well as the potential prognostic value of the TERT promoter mutation.


Subject(s)
Carotid Body/pathology , Genetic Association Studies , Genetic Predisposition to Disease , Genetic Variation , Paraganglioma/diagnosis , Paraganglioma/genetics , Adult , Biomarkers, Tumor , DNA Mutational Analysis , Disease Progression , Female , Genetic Testing , Humans , Immunohistochemistry , Mutation , Paraganglioma/therapy , Succinate Dehydrogenase/genetics , Succinate Dehydrogenase/metabolism
19.
Cells ; 10(10)2021 10 09.
Article in English | MEDLINE | ID: mdl-34685674

ABSTRACT

Neuroblastoma (NB) is the most common extra-cranial malignancy in preschool children. To portray the genetic landscape of an overly aggressive NB leading to a rapid clinical progression of the disease, tumor DNA collected pre- and post-treatment has been analyzed. Array comparative genomic hybridization (aCGH), whole-exome sequencing (WES), and pharmacogenetics approaches, respectively, have identified relevant copy number alterations (CNAs), single nucleotide variants (SNVs), and polymorphisms (SNPs) that were then combined into an integrated analysis. Spontaneously formed 3D tumoroids obtained from the recurrent mass have also been characterized. The results prove the power of combining CNAs, SNVs, and SNPs analyses to assess clonal evolution during the disease progression by evidencing multiple clones at disease onset and dynamic genomic alterations during therapy administration. The proposed molecular and cytogenetic integrated analysis empowers the disease follow-up and the prediction of tumor recurrence.


Subject(s)
Comparative Genomic Hybridization , Exome Sequencing , Neuroblastoma/genetics , Child, Preschool , Disease Progression , Drug Resistance, Neoplasm/genetics , Fatal Outcome , Humans , Immunophenotyping , Polymorphism, Single Nucleotide/genetics
20.
World J Surg Oncol ; 19(1): 194, 2021 Jul 02.
Article in English | MEDLINE | ID: mdl-34215276

ABSTRACT

BACKGROUND: Placement of a self-expanding metal stent (SEMS) in patients presenting with an acute colorectal obstruction (ACO) may obviate emergency surgery (ES), potentially effectively palliating incurable tumors, acting as a bridge to surgery (BTS) in patients with operable or potentially operable tumors and achieving effective decompression of other ACO. We present our experience with SEMS insertion by colorectal surgeons without fluoroscopic monitoring for ACO especially for acute malignant colorectal obstruction (AMCO) for nearly a 14-year period (2007-2020). AIM: To explore the safety and effectiveness of SEMS insertion in the management of ACO by colorectal surgeons using a two-person approach colonoscopy without fluoroscopic monitoring. METHODS: We reviewed the medical records of patients retrospectively to identify all patients presenting to our unit with ACO especially with AMCO who had stenting carried out to achieve colonic decompression. All 434 procedures were performed by colorectal surgeons using a two-person approach colonoscopy without fluoroscopic monitoring. RESULTS: The overall technique success rate and clinic success rate by SEMS insertion were 428/434 (98.6%) and 412/434 (94.9%). The overall incidence of complications by SEMS insertion was 19/434 (4.4%). The complications included clinical perforation (6/434, 1.4%); stent migration (2/434, 0.5%), 1 of which re-stent; stent detachment (fell off) (3/434, 0.7%), none of them with re-stent; stool impaction (6/434, 1.4%), 1 of which re-stent; and abdominal or anal pain (2/434, 0.5%). There was no hemorrhage in any of the 434 patients. CONCLUSIONS: SEMS insertion is a relatively safe and effective technique for colonic decompression in dealing with ACO as either a BTS or as a palliative measure. It is also a solution to other causes of ACO such as recurrent tumor, benign diseases, or extra-luminal compression. Therefore, ES was largely avoided.


Subject(s)
Colorectal Neoplasms , Intestinal Obstruction , Surgeons , Colonoscopy , Humans , Neoplasm Recurrence, Local , Palliative Care , Prognosis , Retrospective Studies , Stents , Treatment Outcome
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