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International Journal of Surgery Case... Jul 2022An adenomatoid odontogenic tumor is a rare medical condition. Large tumor (or several) often appears in the maxillae. In a minority of cases, the tumor(s) appear in the...
INTRODUCTION AND IMPORTANCE
An adenomatoid odontogenic tumor is a rare medical condition. Large tumor (or several) often appears in the maxillae. In a minority of cases, the tumor(s) appear in the mandible.
CASE PRESENTATION
We report on a case of a 24-year-old female diagnosed with a mandibular adenomatoid odontogenic tumor, a giant tumor measuring approximately 22 × 25 × 17 cm. The tumor was located on the side of the mandible, causing facial deformity, malnutrition, and hemorrhaging. We assessed the patient's overall condition, carried out a resection of the tumor and mandible from the right condyle to the left mandibular angle, and reconstructed the mandibular defect with a fibula free flap. After the treatment, the patient was followed up for 1 year, with no recurrence detected over this period.
CLINICAL DISCUSSION
Because adenomatoid odontogenic tumors are benign odontogenic lesions, which are painless and slow-growing, most are surgically removed or treated conservatively. However, the above treatment measures cannot be applied in the case of a giant tumor that causes facial deformity, destroys the entire jawbone, and has complications such as hemorrhaging and malnutrition. After the tumor resection, the defect is still significant. Accordingly, reconstruction using a microsurgical bone flap is an effective method instead.
CONCLUSION
Large adenomatoid odontogenic tumors in the mandible are rare, and treatment cannot follow conventional methods. Accordingly, defect reconstruction after tumor resection is essential.
PubMed: 35714392
DOI: 10.1016/j.ijscr.2022.107295 -
Frontiers in Oral Health 2021To perform a comprehensive and systematic critical appraisal of the genetic alterations reported to be present in adenomatoid odontogenic tumor (AOT) compared to...
To perform a comprehensive and systematic critical appraisal of the genetic alterations reported to be present in adenomatoid odontogenic tumor (AOT) compared to ameloblastoma (AM), to aid in the understanding in their development and different behavior. An electronic search was conducted in PubMed, Scopus, and Web of Science during March 2021. Eligibility criteria included publications on humans which included genetic analysis of AOT or AM. A total of 43 articles reporting 59 AOTs and 680 AMs were included. Different genomic techniques were used, including whole-exome sequencing, direct sequencing, targeted next-generation sequencing panels and TaqMan allele-specific qPCR. Somatic mutations affecting were identified in 75.9% of all AOTs, mainly G12V; whereas a 71% of the AMs harbored mutations, mainly V600E. The available genetic data reports that AOTs and AM harbor somatic mutations in well-known oncogenes, being KRAS G12V/R and BRAFV600E mutations the most common, respectively. The relatively high frequency of ameloblastoma compared to other odontogenic tumors, such as AOT, has facilitated the performance of different sequencing techniques, allowing the discovery of different mutational signatures. On the contrary, the low frequency of AOTs is an important limitation for this. The number of studies that have a assessed the genetic landscape of AOT is still very limited, not providing enough evidence to draw a conclusion regarding the relationship between the genomic alterations and its clinical behavior. Thus, the presence of other mutational signatures with clinical impact, co-occurring with background mutations or in wild-type cases, cannot be ruled out. Since BRAF and RAS are in the same MAPK pathway, it is interesting that ameloblastomas, frequently associated with BRAFV600E mutation have aggressive clinical behavior, but in contrast, AOTs, frequently associated with RAS mutations have indolent behavior. Functional studies might be required to solve this question.
PubMed: 35048068
DOI: 10.3389/froh.2021.767474 -
Head and Neck Pathology Jun 2023Respiratory Epithelial Adenomatoid Hamartoma (REAH) is an uncommon, benign tumor of the sinonasal tract. It can, however, be confused with a sinonasal malignancy causing... (Review)
Review
BACKGROUND
Respiratory Epithelial Adenomatoid Hamartoma (REAH) is an uncommon, benign tumor of the sinonasal tract. It can, however, be confused with a sinonasal malignancy causing undo morbidity to patients. Therefore, the clinical as well as histological diagnosis is crucial in order to correctly care for patients.
METHODS
This review of a patient, to include their clinical pictures, radiologic pictures, and histologic pictures, allow for the clinician to accurately evaluate and diagnose REAH.
RESULTS
Our patient presented with a classic bilateral olfactory cleft mass on endoscopic exam. CT was obtained showing a non-enhancing homogenous mass, widening the olfactory cleft, with no evidence of skull base defects or bony erosion. MRI was additionally obtained, given the location, showing a homogenous cribriform mass with clearly defined borders with post-contrast enhancement on T1-weighted images and hyperintense T2-weighted images. A biopsy in clinic was done, showing small to medium, round to oval shaped glands lined with ciliated respiratory epithelium and separated by stroma. The surface epithelium extends into the submucosa, communicating with the proliferating glands.
CONCLUSION
Our patient, presented in this case report, shows a classic presentation of REAH. Using these findings, patients can be better counseled on this benign entity, ranging from observation to surgical intervention.
Topics: Humans; Paranasal Sinuses; Adenoma; Hamartoma; Epithelium; Biopsy; Diagnosis, Differential
PubMed: 36622533
DOI: 10.1007/s12105-022-01519-5 -
Archives of Pathology & Laboratory... May 2024Molecular testing has increasingly been utilized in the evaluation of mesothelioma. Diffuse mesothelioma comprises multiple distinct genetic subgroups. While most... (Review)
Review
CONTEXT.—
Molecular testing has increasingly been utilized in the evaluation of mesothelioma. Diffuse mesothelioma comprises multiple distinct genetic subgroups. While most diffuse mesotheliomas lack oncogenic kinase mutations and instead harbor alterations involving tumor suppressors and chromatin regulators, a minor subset of tumors is characterized by uncommon alterations such as germline mutations, genomic near-haploidization, ALK rearrangement, ATF1 rearrangement, or EWSR1::YY1 fusion.
OBJECTIVE.—
To provide updates on the salient molecular features of diffuse mesothelioma, mesothelioma in situ, and other mesothelial lesions: well-differentiated papillary mesothelial tumor, adenomatoid tumor, peritoneal inclusion cyst, and others. We consider the diagnostic, prognostic, and predictive utility of molecular testing in mesothelial lesions.
DATA SOURCES.—
We performed a literature review of recently described genetic features, molecular approaches, and immunohistochemical tools, including BAP1, MTAP, and merlin in mesothelioma and other mesothelial lesions.
CONCLUSIONS.—
Our evolving understanding of the molecular diversity of diffuse mesothelioma and other mesothelial lesions has led to considerable changes in pathology diagnostic practice, including the application of immunohistochemical markers such as BAP1, MTAP, and merlin (NF2), which are surrogates of mutation status. In young patients and/or those without significant asbestos exposure, unusual mesothelioma genetics such as germline mutations, ALK rearrangement, and ATF1 rearrangement should be considered.
Topics: Humans; Mesothelioma; Immunohistochemistry; Biomarkers, Tumor; Neoplasms, Mesothelial; Mesothelioma, Malignant; Mutation; Tumor Suppressor Proteins; Ubiquitin Thiolesterase
PubMed: 38190277
DOI: 10.5858/arpa.2023-0213-RA -
Asian Journal of Surgery Feb 2022
Topics: Adenomatoid Tumor; Fallopian Tube Neoplasms; Fallopian Tubes; Female; Humans
PubMed: 34955345
DOI: 10.1016/j.asjsur.2021.11.045 -
Human Pathology May 2021Adenomatoid tumors (ATs) are benign mesothelial tumors with a good prognosis and usually occur in female and male genital tracts, including in the uterus. ATs are... (Comparative Study)
Comparative Study
Adenomatoid tumors (ATs) are benign mesothelial tumors with a good prognosis and usually occur in female and male genital tracts, including in the uterus. ATs are genetically defined by tumor necrosis factor receptor-associated factor (TRAF) 7 mutations, and a high number of AT cases show immunosuppression. On the other hand, malignant mesotheliomas (MMs) are malignant mesothelial tumors with a very poor prognosis. Genetic alterations in TRAF, methylthioadenosine phosphorylase(MTAP), and BRCA-associated nuclear protein 1 (BAP1) in ATs derived from the uterus and MMs of pleural or peritoneal origin were compared by gene sequence analysis or immunohistochemical approaches. Formalin-fixed paraffin-embedded tissues derived from patients were used for immunohistochemical staining of L1 cell adhesion molecule (L1CAM), BAP1, MTAP, and sialylated protein HEG homolog 1 (HEG1) in 51 uterine AT cases and 34 pleural or peritoneal MM cases and for next-generation sequencing of the TRAF7 gene in 44 AT cases and 21 MM cases. ATs had a significantly higher rate of L1CAM expression than MMs, whereas MMs had a significantly higher rate of loss of MTAP and BAP1 expression than ATs. There was no difference in the rate of HEG1 expression between the tumor types. Most of the ATs (37/44; 84%) had somatic mutations in TRAF7, but none of the MMs had somatic mutations in TRAF7 (0/21; 0%). In addition, a low number of AT cases were associated with a history of immunosuppression (9/51; 17.6%). TRAF7 mutation is one of the major factors distinguishing the development of AT from MM, and immunosuppression might not be associated with most AT cases.
Topics: Adenomatoid Tumor; Adult; Biomarkers, Tumor; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Mesothelioma, Malignant; Middle Aged; Mutation; Tumor Necrosis Factor Receptor-Associated Peptides and Proteins; Uterine Neoplasms
PubMed: 33667423
DOI: 10.1016/j.humpath.2021.02.007 -
Oral Radiology Jan 2022Calcifying odontogenic cysts (COC) and adenomatoid odontogenic tumors (AOT) have similar radiographic findings. We examined the radiographic and computed tomography (CT)...
OBJECTIVES
Calcifying odontogenic cysts (COC) and adenomatoid odontogenic tumors (AOT) have similar radiographic findings. We examined the radiographic and computed tomography (CT) images of patients histologically diagnosed with COC or AOT and identified their characteristic findings.
METHODS
The subjects included 12 patients histologically diagnosed with COC or AOT (one female and five males per group), who underwent CT at our hospital between Nov 1998 and Jun 2019. The location of the lesion, impacted tooth, bone expansion, root resorption, tooth migration, calcified body, and presence or absence of a high-intensity zone in the marginal area of the lesion were examined.
RESULTS
In patients with COC, five patients with COC exhibited bone expansion toward the buccal side. The lesion encompassing the crown was attached to the cement-enamel junction and contained a radiopaque lesion with a calcified body. In 6 patients with COC, irregularly shaped calcified bodies were observed with small tooth-like structures. In patients with AOT, all six patients with AOT exhibited bone expansion toward the buccal and lingual sides. The lesion encompasses a part of the tooth root or the entire tooth. Punctate calcification was observed within the lesion and the marginal area in three patients, and a high-intensity zone was observed in the marginal area of the lesion in two patients.
CONCLUSION
We report imaging findings that may be characteristic of COC and AOT, suggesting that CT findings may be useful for differentiating between COC and AOT.
Topics: Ameloblastoma; Diagnosis, Differential; Female; Humans; Male; Odontogenic Cyst, Calcifying; Odontogenic Cysts; Odontogenic Tumors; Tomography, X-Ray Computed
PubMed: 33907948
DOI: 10.1007/s11282-021-00531-9 -
Andrology Sep 2021Ultrasound (US) is the primary modality for the investigation of scrotal pathology, including both intra- and paratesticular abnormalities. (Review)
Review
BACKGROUND
Ultrasound (US) is the primary modality for the investigation of scrotal pathology, including both intra- and paratesticular abnormalities.
OBJECTIVE
To describe the abnormalities of the paratesticular space.
MATERIALS/METHODS
The paratesticular space contains the epididymis, spermatic cord and the tunica vaginalis cavity and is affected by a variety of inflammatory or tumoral entities. Differential diagnosis based on US criteria is frequently problematic, as the findings are non-specific.
RESULTS
Some general rules apply: (i) unlike testicular lesions, extra-testicular entities are usually benign in the adult, (ii) the first steps to accurate diagnosis include careful localization of the lesion and assessment of its consistency (solid or cystic) and (iii) magnetic resonance imaging can be useful for further tissue characterization of lesions suspected to contain fat, but surgical biopsy will often provide the definite diagnosis. Contrast-enhanced ultrasound (CEUS) has been applied with limited experience indicating a narrow role, primarily for the differential diagnosis of echogenic cystic entities and the delineation of a necrotic abscess from a solid neoplasm.
DISCUSSION
The various abnormalities are discussed and illustrated.
CONCLUSION
This manuscript summarizes the literature on paratesticular lesions and the value of US in diagnosis.
Topics: Adult; Contrast Media; Diagnosis, Differential; Epididymis; Genital Diseases, Male; Humans; Male; Scrotum; Spermatic Cord; Testicular Diseases; Testis; Ultrasonography
PubMed: 33864338
DOI: 10.1111/andr.13021 -
Seminars in Diagnostic Pathology Jan 2023Germ cell neoplasia in situ (GCNIS) is the precursor of both seminomatous and non-seminomatous germ cell tumors. It consists of distended tubules that may have either... (Review)
Review
Germ cell neoplasia in situ (GCNIS) is the precursor of both seminomatous and non-seminomatous germ cell tumors. It consists of distended tubules that may have either intratubular seminoma or intratubular embryonal carcinoma cells. Many invasive non-seminomatous tumors contain a mixture of tumor types, which are reviewed here. Morphology, aided by a panel of immunostains, can determine the presence and percent of embryonal carcinoma, yolk sac tumor, choriocarcinoma, or teratoma in such tumors. Use of immunostains, required for diagnosis in perhaps 25% of testicular neoplasms, is reviewed. Changes of classification in the AJCC (8 edition) in 2016 are discussed, including the partitioning of two tumor types: the central role of chromosome 12p amplification allows both teratoma and yolk sac tumor to be divided into prepubertal types (lacking amplification) and post-pubertal types. Occasionally, sex cord-stromal tumors, hematolymphoid tumors, or epididymal adenomatoid tumors enter the differential diagnosis of germ cell neoplasms.
Topics: Male; Humans; Endodermal Sinus Tumor; Neoplasms, Germ Cell and Embryonal; Testicular Neoplasms; Carcinoma, Embryonal; Teratoma; Seminoma
PubMed: 35840444
DOI: 10.1053/j.semdp.2022.07.001 -
Radiographics : a Review Publication of... Mar 2023A diverse spectrum of benign entities and malignant neoplasms originate from the monotonous mesothelium that lines the serosal membranes of the pleural, pericardial, and...
A diverse spectrum of benign entities and malignant neoplasms originate from the monotonous mesothelium that lines the serosal membranes of the pleural, pericardial, and peritoneal cavities. The mesothelium of myriad sites shows a common origin from the lateral plate mesoderm; primary mesothelial tumors thus demonstrate similar pathogenesis, imaging findings, and treatment options. Significant changes have been made in the 2021 World Health Organization (WHO) classification schemata of the pleural and pericardial tumors on the basis of recent advances in pathology and genetics. While malignant mesotheliomas are biologically aggressive malignancies that occur primarily in patients exposed to asbestos with attendant poor survival rates, well-differentiated papillary mesothelial tumors and adenomatoid tumors charter a benign clinical course with an excellent prognosis. Mesothelioma in situ is a newly characterized entity represented by recurrent unexplained pleural effusions without any identifiable mass at imaging or thoracoscopy. Immunohistochemical markers based on , and gene mutations help differentiate diffuse mesotheliomas from benign mesothelial proliferations and localized mesotheliomas. Cross-sectional imaging modalities, including US, CT, MRI, and fluorine 18-fluorodeoxyglucose (FDG) PET/CT, permit diagnosis and play a major role in staging and assessing surgical resectability. Imaging studies are invaluable in providing noninvasive and quantitative assessment of tumor response in patients with unresectable disease. Owing to significant overlap in patient characteristics and pathomorphology, accurate diagnosis based on advanced histopathology techniques and genetic abnormalities is imperative for optimal management and prognostication. While patients with nonepithelioid pleural mesotheliomas benefit from immunotherapy, novel targeted therapies for -, -, and -altered mesotheliomas are under consideration. RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.
Topics: Humans; Adenomatoid Tumor; Positron Emission Tomography Computed Tomography; Mesothelioma; Mesothelioma, Malignant; Pleural Neoplasms; Neoplasms, Mesothelial; Biomarkers, Tumor
PubMed: 36757881
DOI: 10.1148/rg.220128