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Modern Pathology : An Official Journal... Feb 2020Localized pleural mesothelioma is a rare solitary circumscribed pleural tumor that is microscopically similar to diffuse malignant pleural mesothelioma. However, the...
Localized pleural mesothelioma is a rare solitary circumscribed pleural tumor that is microscopically similar to diffuse malignant pleural mesothelioma. However, the molecular characteristics and nosologic relationship with its diffuse counterpart remain unknown. In a consecutive cohort of 1110 patients with pleural mesotheliomas diagnosed in 2005-2018, we identified six (0.5%) patients diagnosed with localized pleural mesotheliomas. We gathered clinical history, evaluated the histopathology, and in select cases performed karyotypic analysis and targeted next-generation sequencing. The cohort included three women and three men (median age 63; range 28-76), often presenting incidentally during radiologic evaluation for unrelated conditions. Neoadjuvant chemotherapy was administered in two patients. All tumors (median size 5.0 cm; range 2.7-13.5 cm) demonstrated gross circumscription (with microscopic invasion into lung, soft tissue, and/or rib in four cases), mesothelioma histology (four biphasic and two epithelioid types), and mesothelial immunophenotype. Of four patients with at least 6-month follow-up, three were alive (up to 8.9 years). Genomic characterization identified several subgroups: (1) BAP1 mutations with deletions of CDKN2A and NF2 in two tumors; (2) TRAF7 mutations in two tumors, including one harboring trisomies of chromosomes 3, 5, 7, and X; and (3) genomic near-haploidization, characterized by extensive loss of heterozygosity sparing chromosomes 5 and 7. Localized pleural mesotheliomas appear genetically heterogeneous and include BAP1-mutated, TRAF7-mutated, and near-haploid subgroups. While the BAP1-mutated subgroup is similar to diffuse malignant pleural mesotheliomas, the TRAF7-mutated subgroup overlaps genetically with adenomatoid tumors and well-differentiated papillary mesotheliomas, in which recurrent TRAF7 mutations have been described. Genomic near-haploidization, identified recently in a subset of diffuse malignant pleural mesotheliomas, suggests a novel mechanism in the pathogenesis of both localized pleural mesothelioma and diffuse malignant pleural mesothelioma. Our findings describe distinctive genetic features of localized pleural mesothelioma, with both similarities to and differences from diffuse malignant pleural mesothelioma.
Topics: Adult; Aged; Biomarkers, Tumor; Cyclin-Dependent Kinase Inhibitor p16; Female; Gene Deletion; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Mutation; Neurofibromin 2; Phenotype; Pleural Neoplasms; Solitary Fibrous Tumor, Pleural; Tumor Necrosis Factor Receptor-Associated Peptides and Proteins; Tumor Suppressor Proteins; Ubiquitin Thiolesterase
PubMed: 31371807
DOI: 10.1038/s41379-019-0330-9 -
Medicine Dec 2023Adenomatoid tumors are rare benign tumors, mainly involving the reproductive tract, such as the epididymis in men and the uterus and fallopian tubes in women. However, a... (Review)
Review
RATIONALE
Adenomatoid tumors are rare benign tumors, mainly involving the reproductive tract, such as the epididymis in men and the uterus and fallopian tubes in women. However, a few cases can occur outside the reproductive tract. Herein, we report a rare case of a primary adenomatoid tumor of the adrenal gland.
PATIENT CONCERNS
A 50-year-old man underwent ultrasound examination and was found to have a right adrenal mass without elevated blood pressure, weakness after fatigue, frequent nocturnal urination urgency, pain, or a history of hematuria. The patient's general health was normal. Computed tomography revealed a polycystic mixed-density lesion in the right adrenal region, approximately 7.3 × 4.5 cm in size.
DIAGNOSES
Based on the clinical information, morphological features, and immunohistochemistry results, a pathological diagnosis of primary adenomatoid tumor of the adrenal gland was made.
INTERVENTION
Excision of the right adrenal gland and tumor through the 11 ribs.
OUTCOMES
The patient's postoperative course was uneventful.
LESSONS
Preventing misdiagnosis adenomatoid tumors with other types of adrenal gland tumors or metastatic tumors is imperative. Morphological and immunohistochemical features can help diagnose primary adenomatoid tumors of the adrenal gland.
Topics: Humans; Male; Middle Aged; Adenomatoid Tumor; Adrenal Gland Neoplasms; Adrenal Glands; Immunohistochemistry; Tomography, X-Ray Computed
PubMed: 38115250
DOI: 10.1097/MD.0000000000036739 -
Medicina Oral, Patologia Oral Y Cirugia... Jan 2022This study reviews the demographic, clinical and radiographic features of adenomatoid odontogenic tumor(AOT) diagnosed in an Indian population over 50 years and also... (Review)
Review
BACKGROUND
This study reviews the demographic, clinical and radiographic features of adenomatoid odontogenic tumor(AOT) diagnosed in an Indian population over 50 years and also evaluate and compare follicular AOT(F-AOT) and extra-follicular AOT(EF-AOT).
MATERIAL AND METHODS
55 diagnosed cases of AOT from 1971-2020 were studied retrospectively. The data regarding the age, sex, location, variant of AOT, duration, clinical features, radiographic appearance, treatment and recurrence were collected and analysed.
RESULTS
Of the 722 odontogenic tumors diagnosed, 7.6% were AOTs with higher prevalence of extra-follicular (67.3%) than follicular (32.7%) variant. All the tumors were intraosseous with a marked predilection for maxilla over mandible, ratio 2:1. The patients mean age was 19.8 years with slightly higher female predilection (male:female ratio - 1:1.5). The anterior region (76.4%) was more frequently affected and entire quadrant was involved in 21.8% cases. Clinically, asymptomatic, slow-growing swelling was seen in 81.8% cases with duration of 15 days to 10 years. Radiographically, AOT appeared as well-corticated radiolucent lesion. Canine was the most commonly impacted tooth. Recurrence was seen in 3 cases.
CONCLUSIONS
Interestingly, in this series extra-follicular was twice more common than follicular AOT. Few cases involved the entire quadrant or crossed the midline of either jaws.
Topics: Adolescent; Adult; Ameloblastoma; Child; Female; Humans; India; Male; Odontogenic Tumors; Retrospective Studies; Tooth, Impacted; Young Adult
PubMed: 34874924
DOI: 10.4317/medoral.24977 -
Histopathology Jul 2022Malignant mesothelioma (MM) of the tunica vaginalis (TV) is a rare and aggressive tumour, and the molecular features and staining profile with contemporary...
AIMS
Malignant mesothelioma (MM) of the tunica vaginalis (TV) is a rare and aggressive tumour, and the molecular features and staining profile with contemporary immunohistochemical (IHC) biomarkers are largely unexplored. We characterise the clinicopathological, molecular and IHC features of MM (n = 13) and mesothelial neoplasms of uncertain malignant potential (MUMP) (n = 4).
METHODS AND RESULTS
Targeted next-generation sequencing was performed on seven MMs and two MUMPs. IHC was performed for methylthioadenosine phosphorylase (MTAP), BRCA1-associated protein 1 (BAP1) and SRY-box transcription factor 6 (SOX6). Thirteen adenomatoid tumours were also assessed with SOX6. MM were epithelioid (seven of 13) or biphasic (six of 13). In MM, NF2 (five of seven; 71%), CDKN2A (three of seven; 43%) and BAP1 (two of seven; 29%) were most frequently altered. Non-recurrent driver events were identified in PTCH1 and TSC1. In contrast, none of these alterations were identified in MUMPs; however, one MUMP harboured a TRAF7 missense mutation. By IHC, loss of MTAP (two of 12; 17%) and BAP1 (two of nine; 22%) was infrequent in MM, whereas both were retained in the MUMPs. SOX6 was positive in nine of 11 (82%) MMs and negative in all MUMPs and adenomatoid tumours.
CONCLUSIONS
Testicular MM exhibit a similar mutational profile to those of the pleura/peritoneum; however, alterations in CDKN2A and BAP1 are less common. These findings suggest that although MTAP and BAP1 IHC are specific for MM, their sensitivity in testicular MMs appears lower. In addition, rare tumours may harbour targetable alterations in driver genes (PTCH1 and TSC1) that are unusual in MMs at other anatomical sites. SOX6 is sensitive for MM; accordingly, the presence of SOX6 expression argues against a benign neoplastic process.
Topics: Adenomatoid Tumor; Biomarkers, Tumor; Humans; Immunohistochemistry; Male; Mesothelioma, Malignant; Purine-Nucleoside Phosphorylase; SOXD Transcription Factors; Testicular Neoplasms; Tumor Suppressor Proteins; Ubiquitin Thiolesterase
PubMed: 35460532
DOI: 10.1111/his.14669 -
Journal of Conservative Dentistry : JCD 2022The objective of the study is to describe the clinical and radiographic features of nonmalignant nonendodontic periapical lesions (NMNPLs) mimicking lesions of... (Review)
Review
The objective of the study is to describe the clinical and radiographic features of nonmalignant nonendodontic periapical lesions (NMNPLs) mimicking lesions of endodontic cause. Five electronic databases, PubMed, Web of Science, Scopus, Embase, and ProQuest, were searched (till July 2021) for case reports, case series, and cross-sectional studies, in English language, reporting NMNPLs, which were clinically and/or radiographically simulating periapical pathosis of endodontic origin. Data extraction was done followed by quality assessment of the included articles using the Joanna Briggs Institute tool for case reports and case series. Seventy-three articles comprising 176 cases were included. Sixty-one articles were case reports, nine articles were case series, and three articles were retrospective studies. Male:female ratio was 1.5:1, with a higher prevalence of lesions occurring in the fourth and second decades of life. The majority of the lesions were located in the anterior maxilla. Radiographically, most of the lesions were well defined, radiolucent, and unilocular. Histologically, 29 different types of NMNPLs were reported, with the most common ones being odontogenic keratocyst (25.56%), dentigerous cyst (17.61%), ameloblastoma (11.36%), nasopalatine duct cyst (10.79%), and adenomatoid odontogenic tumor (5.68%). As all the included studies were observational, the quality of available evidence is considered low. Various features such as loss of tooth vitality, history of trauma, and presence of periapical radiolucency may lead to misdiagnosis of NMNPLs and must be considered during diagnosis of the lesion. Additional imaging modalities and histopathology can aid in right diagnosis.
PubMed: 35836562
DOI: 10.4103/jcd.jcd_13_22 -
Magnetic Resonance in Medical Sciences... Apr 2024Adenomatoid tumor is a rare benign genital tract neoplasm of mesothelial origin. Uterine adenomatoid tumors occur in the outer myometrium and may mimic leiomyomas....
PURPOSE
Adenomatoid tumor is a rare benign genital tract neoplasm of mesothelial origin. Uterine adenomatoid tumors occur in the outer myometrium and may mimic leiomyomas. Because hormonal treatment is not applicable to adenomatoid tumors and laparoscopic enucleation is not easy as myomectomy, it is important to differentiate adenomatoid tumors from leiomyomas for the adequate treatment. The purpose of this study is to evaluate the MRI findings of adenomatoid tumor for the differentiation from leiomyoma.
METHODS
MRI findings of surgically proven 10 uterine adenomatoid tumors in 9 women were retrospectively evaluated with correlation to histopathological findings.
RESULTS
All 10 tumors appeared as solid myometrial masses and showed heterogeneous signal intensity with admixture of partially ill-defined slight high-intensity areas containing abundant tubular tumor cells and well-defined myoma-like low-intensity areas reflecting smooth muscle hypertrophy on T2WI including 4 lesions with peripheral ring-like high intensity. High-intensity areas on T2WI tended to show high intensity on diffusion-weighted imaging (DWI) with relatively high apparent diffusion coefficient (ADC), suggesting T2 shine-through effect due to abundant tubules. Intra-tumoral hemorrhage revealed on MRI was rare. Early intense contrast-enhanced areas on dynamic contrast-enhanced study were observed dominantly within the high-intensity areas but rarely within the low-intensity areas on T2WI.
CONCLUSION
The outer myometrial mass with the admixture of well-defined low- and ill-defined high-intensity areas on T2WI may be suggestive of adenomatoid tumor. Peripheral ring-like high intensity on T2WI and DWI may also be suggestive. Dynamic contrast-enhanced MR study may be helpful for the differentiation from leiomyoma.
Topics: Female; Humans; Adenomatoid Tumor; Uterine Neoplasms; Retrospective Studies; Magnetic Resonance Imaging; Leiomyoma; Diffusion Magnetic Resonance Imaging
PubMed: 36697028
DOI: 10.2463/mrms.mp.2022-0067 -
Quintessence International (Berlin,... Feb 2022Adenomatoid odontogenic tumor (AOT) is a benign odontogenic tumor with an excellent prognosis, often seen in children and young adults. The aim was to examine the...
OBJECTIVE
Adenomatoid odontogenic tumor (AOT) is a benign odontogenic tumor with an excellent prognosis, often seen in children and young adults. The aim was to examine the spectrum of clinical, radiographic, and histologic attributes of AOT and assess clinician recognition of this entity. In addition, diagnostic considerations and treatment modalities were explored.
METHOD AND MATERIALS
With Institutional Review Board approval, archival cases of AOT from the University of Florida Oral Pathology Biopsy Service (1994-2019) were examined. Clinical and demographic data along with accompanying radiographs and original slides were reviewed.
RESULTS
A total of 28 cases of AOT were identified. These were all solitary in nature, with a mean age of 20.6 years (range 12-67 years). Most patients were under 20 (75.0%) with a definite female predilection (64.3%). Anterior jaws remained the most common location (85.2%), with a higher maxillary predilection (57.1%). Clinical impression included odontogenic lesions such as dentigerous cyst, lateral periodontal cyst, and odontogenic keratocyst.
CONCLUSION
The spectrum of features of AOT is described. As clinicians were unfamiliar with AOT, highly characteristic features of AOT and more unique variants are discussed extensively to improve diagnostic aptitude. Clinicians must remain aware of this entity, as treatment is minimal compared to other odontogenic entities.
Topics: Adolescent; Adult; Aged; Ameloblastoma; Biopsy; Child; Female; Humans; Maxilla; Middle Aged; Odontogenic Tumors; Young Adult
PubMed: 34709771
DOI: 10.3290/j.qi.b2218723 -
Heliyon May 2023The occurrence of hybrid odontogenic lesions with two or more morphologically distinct components is a rare phenomenon and poses a diagnostic challenge. We aimed to...
BACKGROUND
The occurrence of hybrid odontogenic lesions with two or more morphologically distinct components is a rare phenomenon and poses a diagnostic challenge. We aimed to study the clinical, radiological, and pathological features and behavior of hybrid odontogenic lesions, to enhance awareness about these rare lesions.
METHOD
Hematoxylin and Eosin slides of hybrid odontogenic lesions diagnosed between January 01, 2012 and December 31, 2020, were reviewed. Demographic and radiological information were obtained from the patient's medical records.
RESULTS
8 cases were diagnosed with a mean age of 19.1 years and male to female ratio of 1:1.7. Involvement of mandible was more common (n = 5) as compared to maxilla (n = 3). All patients presented with swelling for an average of 9.75 months (3-25 months) duration. Bleeding, loose teeth, pain and facial asymmetry were reported in 5,3, 3, and 2 cases, respectively. Radiologically, 7 cases were well demarcated, 75% cases (n = 6) were radiolucent, and average radiological size was 4.8 cm. All patients were managed with surgery alone. 5 cases (62.5%) underwent enucleation and curettage, while local excision, en-block resection and segmental mandibulectomy were performed in 1 case each. Histologically, ossifying fibroma/cemento-ossifyiong fibroma were the most lesion, occurring in 5 cases (62%), followed by giant cell granuloma like lesions (GCG) i.e., central and peripheral giant cell granuloma (n = 3), Adenomatoid Odontogenic tumor (AOT) (n = 2), and DC (n = 2), ameloblastic fibroma (AF) (n = 1), Ameloblastoma (n = 1), calcifying odontogenic cyst (COC) (n = 1), and complex odontoma (n = 1). No evidence of recurrence was noted after 4-99 months of surgery (mean: 32.9) in cases with available data (n = 7). Long-term complaints included facial asymmetry (n = 2) and pain (n = 1).
CONCLUSION
Most hybrid odontogenic lesions affect young females in the second decade of life and commonly show COF and OF as hybrid components. A conservative approach to management appears adequate.
PubMed: 37251860
DOI: 10.1016/j.heliyon.2023.e16221 -
Human Pathology Sep 2020The testicular hilum and paratestis contain several embryologically diverse anatomic structures, including the spermatic cord, tunica vaginalis, epididymis, rete testis,...
The testicular hilum and paratestis contain several embryologically diverse anatomic structures, including the spermatic cord, tunica vaginalis, epididymis, rete testis, and several other embryonic remnants. Several benign and malignant lesions arise from these morphologically distinct structures, and owing to their proximity, it is challenging to classify and subsequently stage these tumors. Herein, we conducted a retrospective review of the paratesticular appendageal and rete testis tumors and tumor-like lesions diagnosed at our department from 1985 to 2016. Soft-tissue lesions/tumors were excluded. A total of 146 paratesticular appendageal and rete testis tumors and tumor-like lesions were identified. Most were benign (n = 107; 73%). Adenomatoid tumor (26%) was the most common benign tumor, followed by different types of cysts (19%), mesothelial hyperplasia (18%), serous cystadenoma (5.5%), and rete testis adenoma (4%). Malignant lesions comprised 23% of the cases, with mesothelioma the most common (15%), followed by adenocarcinoma of the rete testis (4%), serous cystadenocarcinoma (2%), and papillary and clear cell adenocarcinoma of the epididymis (2%). Finally, serous borderline tumors and melanotic neuroectodermal tumor (retinal anlage tumors) comprised the remaining 4% of cases. In conclusion, a wide range of benign and malignant lesions can arise from the paratesticular region. Awareness of these lesions and their histologic spectrum is crucial to avoid diagnostic pitfalls and to allow pathologists to establish a correct diagnosis and subsequent treatment plan.
Topics: Humans; Male; Retrospective Studies; Testicular Diseases; Testicular Neoplasms
PubMed: 32619438
DOI: 10.1016/j.humpath.2020.06.006 -
Advances in Anatomic Pathology Jul 2022Chromophobe renal cell carcinoma (ChRCC) is the third most common renal cell carcinoma in adults. The aim of this review is to provide a comprehensive overview... (Review)
Review
Chromophobe renal cell carcinoma (ChRCC) is the third most common renal cell carcinoma in adults. The aim of this review is to provide a comprehensive overview highlighting the broad morphologic spectrum of ChRCC, and offer a practical approach for handling cases in daily practice. For the purpose of this review, we classify ChRCC subtypes as (1) classic, (2) eosinophilic, (3) sarcomatoid, and (4) other rare patterns. The concept of eosinophilic ChRCC has significantly evolved, yet it still is one of the major diagnostic challenges pathologists face in routine practice due to its morphologic overlap with renal oncocytoma. Rare patterns of ChRCC have been described over the last few decades, showing a wide histologic spectrum including those with adenomatoid microcystic pigmented, multicystic, neuroendocrine, small cell, and papillary features. ChRCC represents a heterogenous group of neoplasms, demonstrating varied but unique morphologic and genetic profiles. Although the field of ChRCC knowledge is still evolving, rare patterns can present diagnostic challenges if they are not known to pathologists and/or clinicians. Proper and generous tumor sampling along with careful histologic examination allow for recognition of these rare morphologies. The role of routine molecular testing appears to be limited. From a clinical management standpoint, the rare patterns of ChRCC seem to have no definite clinical implications at present and likely can be managed similarly to usual ChRCC. Finally, we will discuss distinctive novel/emerging renal neoplasms previously considered under the spectrum of ChRCC, low-grade oncocytic renal tumor and eosinophilic vacuolated tumor, with regard to their current significance and implications for future classification strategies.
Topics: Adenoma, Oxyphilic; Adult; Biomarkers, Tumor; Carcinoma, Renal Cell; Diagnosis, Differential; Humans; Kidney Neoplasms
PubMed: 35470289
DOI: 10.1097/PAP.0000000000000349