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Ghana Medical Journal Mar 2022A tailgut cyst is a rare congenital lesion that develops from a residual posterior remnant of the intestine and presents as a mass in the presacral space. They are...
UNLABELLED
A tailgut cyst is a rare congenital lesion that develops from a residual posterior remnant of the intestine and presents as a mass in the presacral space. They are generally asymptomatic or have atypical symptoms, are usually benign but may rarely become malignant. We report a case of a 37-year-old female who initially presented to the Surgical Department of Korle Bu Teaching Hospital, Accra, Ghana with a malignant tailgut cyst after having repeated surgical procedures for recurrent perianal infective pathologies but still had persistence of symptoms. The lesion was initially excised and found to be a dermoid cyst histologically. The mass recurred after a year and had a re-excision; the lesion was diagnosed histologically as mucinous adenocarcinoma. This report emphasizes the different forms of presentation of a patient with a tailgut cyst and the possibility of malignant transformation, as well as the presentation of this tailgut cyst which can be diagnosed using radiological investigations and histological findings.
FUNDING
None.
Topics: Adenocarcinoma, Mucinous; Adult; Cysts; Female; Ghana; Hamartoma; Humans; Neoplasm Recurrence, Local
PubMed: 35919784
DOI: 10.4314/gmj.v56i1.8 -
European Journal of Medical Research May 2024Odontogenic keratocysts exhibit frequent recurrence, distinctive histopathological traits, a tendency towards aggressive clinical behavior, and a potential linkage to... (Review)
Review
OBJECTIVES
Odontogenic keratocysts exhibit frequent recurrence, distinctive histopathological traits, a tendency towards aggressive clinical behavior, and a potential linkage to the nevoid basal cell carcinoma syndrome. The aim of this systematic review is to compile insights concerning the control of this condition and assess the effectiveness of various treatment approaches in reducing the likelihood of recurrence.
MATERIALS AND METHODS
The following systematic review adhered to the PRISMA guidelines. The systematic revision was registered on PROSPERO and structured around the questions related to the population, intervention, control, outcome and study design (PICOS).
RESULTS
After conducting a search on the PubMed database, we initially identified 944 records. After using end-note software to remove duplicate entries, results totally with 462 distinct records. A thorough review of the titles and abstracts of these articles led to the selection of 50 papers for in-depth examination. Ultimately, following the application of our eligibility criteria, we incorporated 11 articles into our primary outcome analysis.
CONCLUSION
Among the studies examined, the most common location for these lesions was found to be in the area of the mandibular ramus and the posterior region of the mandible. In cases where the exact location wasn't specified, the mandible emerged as the predominant site. When we considered the characteristics of these lesions in studies that mentioned locularity, most were described as unilocular in two studies, while in two other studies, the prevalence of multilocular lesions was observed. Risk factors associated with keratocyst recurrence include younger patient age, the presence of multilocular lesions, larger lesion size, and a longer anteroposterior dimension. Certain treatment methods have demonstrated a lack of relapses. These include the use of 5-fluorouracil, marsupialization, enucleation with peripheral ostectomy or resection, enucleation and curettage, as well as resection without creating continuity defects. However, it is important to note that further research is essential. Prospective studies and randomized trials are needed to collect more comprehensive evidence regarding the effectiveness of various treatment approaches and follow-up protocols for managing odontogenic keratocysts.
CLINICAL RELEVANCE
Odontogenic keratocysts still enter into differential diagnoses with other lesions that affect the jaw bones such as ameloblastama and other tumor forms, furthermore it is not free from recurrence, therefore the therapeutic approach to the lesion aimed at its elimination can influence both the possible recurrence and complications, knowledge of the surgical methods that offer the most predictable and clinically relevant result for the management of follow-up and recurrences.
Topics: Humans; Odontogenic Cysts
PubMed: 38750607
DOI: 10.1186/s40001-024-01854-z -
Neurology Jul 2018Several clinical trials targeting cutaneous neurofibromas (cNF) have been conducted; however, none has resulted in meaningful changes to care. The Clinical Trial Design...
OBJECTIVE
Several clinical trials targeting cutaneous neurofibromas (cNF) have been conducted; however, none has resulted in meaningful changes to care. The Clinical Trial Design and Development subgroup's goals were to (1) define key considerations in the design of clinical trials for cNF, (2) summarize existing data in relation to these considerations, and (3) provide consensus recommendations about key elements of trial design to accelerate the clinical development of therapies for cNF.
METHODS
The subgroup, with experts from genetics, dermatology, neurology, oncology, and basic science, spanning academia, government research, and regulatory programs, and industry, reviewed published and unpublished data on clinical trials for cNF and other diseases in the skin. Discussions of these data resulted in formulation of a list of priority issues to address in order to develop efficient and effective clinical trials for cNF.
RESULTS
The subgroup identified 2 natural history studies of cNF, 4 priority outcome measures, and 6 patient-reported outcome tools for potential use in efficacy trials of cNF. Time to initiate intervention, patient eligibility, mechanism of action, route of administration, safety monitoring, and regulatory agency interactions were identified as key factors to consider when designing clinical trials for cNF.
CONCLUSIONS
Alignment on endpoints and methods for the measurement and quantification of cNF represent a priority for therapeutic development for cNF. Advances in technological methods and outcome tools utilized in other skin diseases may be applicable to cNF studies. Patient age is an important factor guiding trial design and clinical development path.
Topics: Clinical Trials as Topic; Humans; Neurofibroma; Outcome Assessment, Health Care; Patient Reported Outcome Measures; Research Design; Skin Neoplasms
PubMed: 29987133
DOI: 10.1212/WNL.0000000000005790 -
American Journal of Medical Genetics.... Sep 2022Diagnosis of rare, genetic diseases is challenging, but conceptual frameworks of the diagnostic process can guide quality improvement initiatives. Using the National... (Review)
Review
Diagnosis of rare, genetic diseases is challenging, but conceptual frameworks of the diagnostic process can guide quality improvement initiatives. Using the National Academy of Medicine diagnostic framework, we assessed the extent of, and reasons for diagnostic delays and diagnostic errors in schwannomatosis, a neurogenetic syndrome characterized by nerve sheath tumors and chronic pain. We reviewed the medical records of 97 people with confirmed or probable schwannomatosis seen in two US tertiary care clinics. Time-to-event analysis revealed a median time from first symptom to diagnosis of 16.7 years (95% CI, 7.5-26.0 years) and median time from first medical consultation to diagnosis of 9.8 years (95% CI, 3.5-16.2 years). Factors associated with longer times to diagnosis included initial signs/symptoms that were intermittent, non-specific, or occurred at younger ages (p < 0.05). Thirty-six percent of patients were misdiagnosed; misdiagnoses were of underlying genetic condition (18.6%), pain etiology (16.5%), and nerve sheath tumor presence/pathology (11.3%) (non-mutually exclusive categories). One-fifth (19.6%) of patients had a clear missed opportunity for genetics workup that could have led to an earlier schwannomatosis diagnosis. These results suggest that interventions in clinician education, genetic testing availability, expert review of pathology findings, and automatic triggers for genetics referrals may improve diagnosis of schwannomatosis.
Topics: Humans; Neurilemmoma; Neurofibromatoses; Neurofibromatosis 2; Rare Diseases; Skin Neoplasms
PubMed: 35678462
DOI: 10.1002/ajmg.a.62860 -
Head and Neck Pathology Jun 2022Sclerosing polycystic adenosis, initially considered a non-neoplastic salivary gland lesion and classified as such in the 2017 WHO Classification of Head and Neck...
Sclerosing polycystic adenosis, initially considered a non-neoplastic salivary gland lesion and classified as such in the 2017 WHO Classification of Head and Neck Tumors, has been the subject of controversy regarding its possible neoplastic nature. The reporting of recurrent PI3K pathway alteration represents evidence to support these lesions as being neoplastic and more appropriately referred to as sclerosing polycystic adenoma (SPA). Herein, we provide additional evidence that supports the classification of SPA as a true neoplasm. Eight cases of SPA were identified in our database and consultation files. All cases were subjected to PTEN immunohistochemistry (IHC) and next-generation sequencing (NGS). In addition, one patient underwent genetic counseling and germline testing. The cases included 5 men and 3 women with a mean age of 41 years (range 11-78) and all tumors arose in the parotid gland. One patient had multiple recurrences over a period of 2 years. Morphologically the tumors were circumscribed and characterized by an admixture of acini, ducts and cysts embedded in a fibrotic/sclerotic stroma. The cells lining the ducts and cysts showed variable granular, vacuolated, foamy and apocrine cytoplasmic features, as well as acinar cells contained intracytoplasmic brightly eosinophilic granules. The apocrine intraductal proliferations showed mild to moderate atypia in 6 cases. One case showed overt malignant morphology that ranged from intraductal carcinoma to invasive salivary duct carcinoma. Seven cases tested for PTEN IHC showed loss of nuclear expression in the acinar and ductal cells with retained PTEN expression in the myoepithelial cell and stroma. NGS detected PIK3CA or PIK3R1 genetic alterations in 7 cases, including a novel TFG-PIK3CA fusion. Coexisting PTEN mutations were seen in 4 cases, including in a patient with clinical stigmata of Cowden syndrome and confirmed by germline genetic testing. Our findings herein documented including recurrence of tumor, malignant transformation, high prevalence of PI3K pathway oncogenic alterations and the possible heretofore undescribed association with Cowden syndrome add support to classifying SPA as true neoplasms justifying their designation as adenoma, rather than adenosis.
Topics: Adenoma; Adolescent; Adult; Aged; Child; Class I Phosphatidylinositol 3-Kinases; Cysts; Female; Hamartoma Syndrome, Multiple; Humans; Hyperplasia; Male; Middle Aged; Phosphatidylinositol 3-Kinases; Young Adult
PubMed: 34410594
DOI: 10.1007/s12105-021-01374-w -
Orphanet Journal of Rare Diseases Jun 2009Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1:... (Review)
Review
Neurofibromatosis type 2 (NF2) is a tumour-prone disorder characterised by the development of multiple schwannomas and meningiomas. Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. The majority of patients present with hearing loss, which is usually unilateral at onset and may be accompanied or preceded by tinnitus. Vestibular schwannomas may also cause dizziness or imbalance as a first symptom. Nausea, vomiting or true vertigo are rare symptoms, except in late-stage disease. The other main tumours are schwannomas of the other cranial, spinal and peripheral nerves; meningiomas both intracranial (including optic nerve meningiomas) and intraspinal, and some low-grade central nervous system malignancies (ependymomas). Ophthalmic features are also prominent and include reduced visual acuity and cataract. About 70% of NF2 patients have skin tumours (intracutaneous plaque-like lesions or more deep-seated subcutaneous nodular tumours). Neurofibromatosis type 2 is a dominantly inherited tumour predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. More than 50% of patients represent new mutations and as many as one-third are mosaic for the underlying disease-causing mutation. Although truncating mutations (nonsense and frameshifts) are the most frequent germline event and cause the most severe disease, single and multiple exon deletions are common. A strategy for detection of the latter is vital for a sensitive analysis. Diagnosis is based on clinical and neuroimaging studies. Presymptomatic genetic testing is an integral part of the management of NF2 families. Prenatal diagnosis and pre-implantation genetic diagnosis is possible. The main differential diagnosis of NF2 is schwannomatosis. NF2 represents a difficult management problem with most patients facing substantial morbidity and reduced life expectancy. Surgery remains the focus of current management although watchful waiting with careful surveillance and occasionally radiation treatment have a role. Prognosis is adversely affected by early age at onset, a higher number of meningiomas and having a truncating mutation. In the future, the development of tailored drug therapies aimed at the genetic level are likely to provide huge improvements for this devastating condition.
Topics: Adolescent; Adult; Genes, Neurofibromatosis 2; Humans; Mutation; Neurofibromatosis 2; Prognosis; Young Adult
PubMed: 19545378
DOI: 10.1186/1750-1172-4-16 -
Laeknabladid Jul 2012The clinical manifestation of a choledochal cyst is diverse and can mimic common diseases like gallstones, cholecystitis or pancreatitis. Initial diagnosis is often... (Review)
Review
The clinical manifestation of a choledochal cyst is diverse and can mimic common diseases like gallstones, cholecystitis or pancreatitis. Initial diagnosis is often suspected after ultrasound of the biliary tract and confirmed with more specific studies as magnetic resonance cholangiopancreatography or endoscopic retrograde cholangiopancreatography. The risk of malignant transformation is well documented and the mainstay of therapy is excision of the choledochal cysts along with the gallbladder. Choledochal cysts are a rare phenomenon and only three cases were diagnosed in Iceland in the years 2000-2010. The following is a description of one of these cases along with an overview of the literature.
Topics: Cholangiopancreatography, Magnetic Resonance; Choledochal Cyst; Diagnosis, Differential; Humans; Predictive Value of Tests; Treatment Outcome
PubMed: 22947607
DOI: 10.17992/lbl.2012.0708.445 -
Stem Cell Research & Therapy Jul 2022Stem cell niche maintains stem cell population identity and is essential for the homeostasis of self-renewal and differentiation in Drosophila testes. However, the...
BACKGROUND
Stem cell niche maintains stem cell population identity and is essential for the homeostasis of self-renewal and differentiation in Drosophila testes. However, the mechanisms of CySC lineage signals-mediated soma-germline communications in response to external stimuli are unclear.
METHODS
Pre-initiation complex functions were evaluated by UAS-Gal4-mediated cell effects. RNA sequencing was conducted in NC and eIF5 siRNA-treated cells. Genetic interaction analysis was used to indicate the relationships between eIF5 and eIF1A/eIF2γ in Drosophila testes.
RESULTS
Here, we demonstrated that in CySCs, translation initiation factor eIF5 mediates cyst cell differentiation and the non-autonomously affected germ cell differentiation process. CySCs lacking eIF5 displayed unbalanced cell proliferation and apoptosis, forming testicular germ cell tumors (TGCTs) during spermatogenesis. eIF5 transcriptional regulation network analysis identified multiple metabolic processes and several key factors that might be involved in germ cell differentiation and TGCT formation. Importantly, knockdown of eIF1A and eIF2γ, key components of pre-initiation complex, mimicked the phenotype of knocking down eIF5 in the stem cell niche of Drosophila testes. Genetic interaction analysis indicated that eIF5 was sufficient to rescue the phenotype of tumorlike structures induced by down-regulating eIF1A or eIF2γ in CySCs.
CONCLUSIONS
These findings demonstrated that CySC lineage eIF5, together with eIF1A or eIF2γ, mediates soma-germline communications for the stem cell niche homeostasis in Drosophila testes, providing new insights for the prevention of TGCTs.
Topics: Animals; Cell Lineage; Cysts; Drosophila; Germ Cells; Male; Neoplasms, Germ Cell and Embryonal; Peptide Initiation Factors; Stem Cells; Testicular Neoplasms; Testis
PubMed: 35883200
DOI: 10.1186/s13287-022-03025-5 -
JSLS : Journal of the Society of... 1997The laparoscopic management of suspicious adnexal masses and early ovarian malignancies is discussed with the aim of maintaining accepted oncologic treatment principles.... (Review)
Review
BACKGROUND
The laparoscopic management of suspicious adnexal masses and early ovarian malignancies is discussed with the aim of maintaining accepted oncologic treatment principles. Comparative survival data of patients with gynecological malignancies managed by laparoscopy or laparotomy are still very scarce and the survival of cancer patients must not be compromised by new techniques. It is time to closely analyze laparoscopy and determine if it has a positive impact on the diagnosis and treatment of ovarian malignancies. In this paper we will address the following points: 1) Which ovarian cysts can be surgically treated by laparoscopy (pelviscopy)? 2) Is staging laparoscopy an accepted technique? 3) Is laparoscopy, as a second-look procedure, of benefit? 4) Is laparoscopic staging, together with histologic tissue sampling, adequate surgical technique in inoperable ovarian cancer with ascites and peritoneal carcinomatosis? 5) Does endoscopic biopsy of ovarian cancer stage Ia change the destiny of a patient into ovarian cancer Ic?
DATA BASE
The above questions are analyzed based on our experience with the laparoscopic treatment of 1,225 patients with ovarian cysts and 165 ovarian cancer patients stage I to IV treated immediately by laparotomy during the years 1992-1995.
CONCLUSIONS
Ovarian cystic tumors with no signs of malignancy can be dealt with by laparoscopic means with the option of immediate conversion to laparotomy or within one week if an ovarian malignancy is diagnosed. Today sampling laparoscopic lymphadenectomy of both pelvic and para-aortic is feasible and adequate. On a curative level, the number of lymph nodes to be resected has yet to be determined. The adnexa can be extracted from the abdominal cavity with bag extraction without the danger of spillage. The uterus can be removed transvaginally with laparoscopic assisted vaginal hysterectomy (LAVH). We must be cautious to advocate laparoscopy for ovarian cancer. However, it is an excellent tool when used as a staging procedure. A careful preoperative screening of the patient and an exact definition of existing cysts with imaging techniques allows us to frequently apply laparoscopic surgery for ovarian cysts, leaving only readily detectable cancer cases for laparotomy. Many gynecological oncologists employing staging and second-look procedures for ovarian cancer agree that initiating a case with laparoscopy may preclude laparotomy for many patients. Tumor propagation by performing a biopsy in FIGO stage Ia ovarian cancer patients does not occur if the patient receives adequate radical surgical treatment within one week. According to the reports of Sevelda et al. and Dembo et al., the degree of differentiation and the existence of ascites are more relevant to decreasing the five-year survival rate of patients with ovarian cancer stage I than the rupture of capsule or penetration of the tumor. A dependency on the first two parameters was found in these two large statistical studies. As the question of endoscopic operations for adnexal mass is predominantly put for the sanitation of small ovarian tumors (ovarian tumors with solid particles in the cysts can be put into the section of primary laparotomies) there remains a wide field of indications for the laparoscopic treatment of adnexal mass and ovarian cysts with benign indications. For many young patients with non-malignant ovarian lesions such as endometriosis, benign cysts, benign cystic proliferations and fibromas, a laparotomy can be avoided and these lesions treated by laparoscopy.
Topics: Adolescent; Adult; Female; Humans; Laparoscopy; Middle Aged; Neoplasm Staging; Ovarian Cysts; Ovarian Neoplasms; Prognosis; Sensitivity and Specificity; Treatment Outcome
PubMed: 9876656
DOI: No ID Found -
World Journal of Gastroenterology Aug 2019Pancreatic cysts are identified at an increasing frequency. Although mucinous cystic neoplasms represent a pre-malignant condition, the majority of these lesions do not... (Comparative Study)
Comparative Study Review
Pancreatic cysts are identified at an increasing frequency. Although mucinous cystic neoplasms represent a pre-malignant condition, the majority of these lesions do not progress to cancer. Over the last 10 years several societies have established guidelines for the diagnosis, initial evaluation and surveillance of these lesions. Here we provide an overview of five commonly used guidelines: 2015 American Gastroenterological Association, 2017 International Association of Pancreatology, American College of Gastroenterology 2018, European Study Group and American College of Radiology. We describe the similarities and differences between the methods used to formulate these guidelines, the population they target and their approaches towards initial evaluation and surveillance of cystic lesions.
Topics: Aftercare; Cystadenoma; Disease Progression; Europe; Gastroenterology; Humans; Magnetic Resonance Imaging; Pancreas; Pancreatectomy; Pancreatic Cyst; Pancreatic Neoplasms; Pancreatic Pseudocyst; Practice Guidelines as Topic; Radiology; Risk Assessment; Societies, Medical; United States; Watchful Waiting
PubMed: 31496620
DOI: 10.3748/wjg.v25.i31.4405