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The American Journal of Case Reports Oct 2023BACKGROUND Papillary intralymphatic angioendothelioma (PILA) is a rare vascular tumor affecting children and young adults, with less than 50 cases reported in the...
BACKGROUND Papillary intralymphatic angioendothelioma (PILA) is a rare vascular tumor affecting children and young adults, with less than 50 cases reported in the literature. This tumor typically presents in the extremities, exhibits borderline behavior, and has a prominent lymphatic phenotype. Originally thought to be malignant, PILA was later recognized for its borderline behavior and lymphatic features, leading to its current classification as a "rarely metastasizing lymphatic vascular neoplasm". CASE REPORT We present the case of a 10-year-old girl with a 6-year history of a right facial venous malformation, which was ultimately diagnosed as PILA in the background of lymphatic/venous malformation (LVM). After undergoing surgical excision of a right facial soft-tissue tumor, histopathological examination revealed scattered lymphatics and thin-walled vascular channels with blood in skeletal muscle and fibroadipose tissue. Intraluminal papillary proliferation of vascular spaces lined by cytologically bland spindle cells was observed, along with Kaposiform morphology and small-vessel proliferation. Immunohistochemical staining confirmed endothelial cell markers (D2-40, ERG, CD34, and CD31) and numerous CD3(+) lymphocytes in the lumen, surrounded by CD3(+) T lymphocytes and CD20(+) B lymphocytes in the surrounding stroma. The tumor lacked pleomorphism, significant mitotic activity, and necrosis. CONCLUSIONS PILA presents a diagnostic challenge and should be considered in the differential diagnosis of cutaneous vascular neoplasms. Long-term follow-up is crucial due to its borderline behavior and potential for local invasiveness and metastasis. Accurate diagnosis, aided by characteristic histological and immunohistochemical features, is essential for appropriate management of this rare vascular tumor.
Topics: Child; Female; Young Adult; Humans; Vascular Neoplasms; Hemangioendothelioma; Vascular Diseases; Soft Tissue Neoplasms; Skin Neoplasms
PubMed: 37803820
DOI: 10.12659/AJCR.940602 -
BMC Veterinary Research Jul 2023Testicular tumours are common in dogs and, among them, interstitial cell tumours, seminomas and sustentacular cell tumours are the most reported. Mesenchymal testicular...
BACKGROUND
Testicular tumours are common in dogs and, among them, interstitial cell tumours, seminomas and sustentacular cell tumours are the most reported. Mesenchymal testicular tumours are rarely reported in humans as in veterinary medicine where only three cases of sarcomas (leiomyomas and leomyosarcomas) have been described in two stallions and in a ram.
CASE PRESENTATION
The present cases regarded a 12-year-old mixed-breed dog and a 10-year-old American Staffordshire Terrier that underwent bilateral orchiectomy. Formalin fixed testes were referred for histopathological diagnosis. At gross examination, in one of the testes of both dogs, a white, firm and variably cystic testicular mass, effacing and replacing the testicular parenchyma was detected. Samples were collected from both neoplastic and contralateral testes, routinely processed for histology and serial sections were also examined immunohistochemically with primary antibodies against cytokeratins, vimentin, Von Willebrand factor, inhibin-α, α-smooth muscle actin, smooth muscle myosin and desmin. Histopathological features as well as the immunohistochemical results, positive for vimentin, actin, myosin and desmin, confirmed the mesenchymal origin and the myoid phenotype of both testicular tumours supporting the diagnoses of leiomyosarcoma.
CONCLUSIONS
To the authors knowledge these are the first cases of primary testicular sarcoma reported in the canine species. However, even rare, these tumours deserve to be considered in routine diagnosis when a testicular spindle cell tumour is observed. The immunohistochemical panel applied was useful to distinguish the present tumours from undifferentiated Sertoli cell tumours confirming the diagnosis of leiomyosarcoma.
Topics: Animals; Dogs; Male; Actins; Desmin; Dog Diseases; Immunohistochemistry; Leiomyosarcoma; Sarcoma; Sertoli Cell Tumor; Testicular Neoplasms; Vimentin
PubMed: 37525233
DOI: 10.1186/s12917-023-03658-5 -
Cellular and Molecular Life Sciences :... Apr 2024Aberrant remodeling of uterine spiral arteries (SPA) is strongly associated with the pathogenesis of early-onset preeclampsia (EOPE). However, the complexities of SPA...
Aberrant remodeling of uterine spiral arteries (SPA) is strongly associated with the pathogenesis of early-onset preeclampsia (EOPE). However, the complexities of SPA transformation remain inadequately understood. We conducted a single-cell RNA sequencing analysis of whole placental tissues derived from patients with EOPE and their corresponding controls, identified DAB2 as a key gene of interest and explored the mechanism underlying the communication between Extravillous trophoblast cells (EVTs) and decidual vascular smooth muscle cells (dVSMC) through cell models and a placenta-decidua coculture (PDC) model in vitro. DAB2 enhanced the motility and viability of HTR-8/SVneo cells. After exposure to conditioned medium (CM) from HTR-8/SVneo cells, hVSMCs exhibited a rounded morphology, indicative of dedifferentiation, while CM-HTR-8/SVneo cells displayed a spindle-like morphology. Furthermore, the PDC model demonstrated that CM-HTR-8/SVneo was less conducive to vascular remodeling. Further in-depth mechanistic investigations revealed that C-X-C motif chemokine ligand 8 (CXCL8, also known as IL8) is a pivotal regulator governing the dedifferentiation of dVSMC. DAB2 expression in EVTs is critical for orchestrating the phenotypic transition and motility of dVSMC. These processes may be intricately linked to the CXCL8/PI3K/AKT pathway, underscoring its central role in intricate SPA remodeling.
Topics: Pregnancy; Humans; Female; Interleukin-8; Phosphatidylinositol 3-Kinases; Pre-Eclampsia; Placenta; Arteries; Culture Media, Conditioned; Adaptor Proteins, Signal Transducing; Apoptosis Regulatory Proteins; Eosine Yellowish-(YS); Phosphatidylethanolamines
PubMed: 38613672
DOI: 10.1007/s00018-024-05212-4 -
Histopathology Feb 2024NTRK-rearranged sarcomas of the female genital tract mainly occur in the uterus (more commonly cervix than corpus) and are characterized by a "fibrosarcoma-like"...
AIMS
NTRK-rearranged sarcomas of the female genital tract mainly occur in the uterus (more commonly cervix than corpus) and are characterized by a "fibrosarcoma-like" morphology and NTRK gene rearrangements. These neoplasms may exhibit histological overlap with other entities and can present diagnostic difficulties without molecular confirmation. Pan-TRK immunohistochemistry was developed to identify tumours harbouring NTRK rearrangements. The aim of this study was to characterize pan-TRK immunohistochemical expression in a large cohort of gynaecological mesenchymal neoplasms and investigate the utility of pan-TRK immunohistochemistry to distinguish NTRK-rearranged sarcoma from its mimics.
METHODS AND RESULTS
A total of 473 gynaecological mesenchymal tumours (461 without known NTRK fusions and 12 NTRK-rearranged sarcomas) were selected. Pan-TRK immunohistochemistry (EPR17341, Abcam) was performed on whole tissue sections and tissue microarrays. Molecular interrogation of pan-TRK positive tumours was performed by RNA sequencing or fluorescence in situ hybridization (FISH). Of the 12 NTRK-rearranged sarcomas, 11 (92%) exhibited diffuse (≥70%) cytoplasmic pan-TRK staining with moderate/marked intensity, while the other was negative. Eleven (2.4%) additional tumours also exhibited pan-TRK immunohistochemical expression: three low-grade endometrial stromal sarcomas, seven high-grade endometrial stromal sarcomas, and an undifferentiated uterine sarcoma. Molecular confirmation of the absence of NTRK rearrangements was possible in nine of these tumours. Of these nine neoplasms, seven exhibited focal/multifocal (<70%) pan-TRK cytoplasmic staining with weak/moderate intensity.
CONCLUSION
Even though pan-TRK immunohistochemical expression is not entirely sensitive or specific for NTRK-rearranged sarcomas, these neoplasms tend to exhibit diffuse staining of moderate/strong intensity, unlike its mimics. Pan-TRK should be performed in monomorphic uterine (corpus and cervix) spindle cell neoplasms that are negative for smooth muscle markers and hormone receptors and positive for CD34 and/ or S100. Ultimately, the diagnosis requires molecular confirmation.
Topics: Female; Humans; Biomarkers, Tumor; Endometrial Neoplasms; Immunohistochemistry; In Situ Hybridization, Fluorescence; Neoplasms, Connective and Soft Tissue; Oncogene Proteins, Fusion; Sarcoma; Sarcoma, Endometrial Stromal; Soft Tissue Neoplasms; Receptor, trkA
PubMed: 37988282
DOI: 10.1111/his.15082 -
International Journal of Surgical... Aug 2023Penile myointimoma is a rare, benign tumor occurring within the corpus spongiosum vasculature of the glans penis. Thus far, there have been twenty-three reported tumors...
Penile myointimoma is a rare, benign tumor occurring within the corpus spongiosum vasculature of the glans penis. Thus far, there have been twenty-three reported tumors in the literature. We present four additional tumors of this unique myointimal proliferation. Patients ranged in age from 20 to 68 years and presented with a firm mass on the glans penis. All four tumors displayed distinctive morphologic features consisting of a myointimal proliferation with plexiform architecture of bland myofibroblastic cells in a myxoid background in the corpus spongiosum vasculature. Characteristic cytoplasmic immunoreactivity of lesional cells with smooth muscle actin in addition to a desmin positive collarette of native vessel smooth muscle was seen in all four tumors. No disease was reported in any of the patients at last clinical follow-up (9 months to 15 years) after biopsy or excision. Myointimoma is part of a rare group of mesenchymal tumors that has been recently classified by its distinctive location, morphology, and immunohistochemical reactivity. For any nodular, spindle cell lesion of the corpus spongiosum, myointimoma should be included in the differential diagnosis given its unique characteristics and favorable clinical outcome.
Topics: Male; Humans; Young Adult; Adult; Middle Aged; Aged; Penile Neoplasms; Penis; Vascular Neoplasms; Diagnosis, Differential; Neoplasms, Connective and Soft Tissue
PubMed: 35946081
DOI: 10.1177/10668969221117236 -
Journal of Comparative Pathology Nov 2023This report documents the pathological features of primary cardiac myxoid tumour (MT) in 11 dogs. Macroscopically, all the tumours were located in the tricuspid valve... (Review)
Review
This report documents the pathological features of primary cardiac myxoid tumour (MT) in 11 dogs. Macroscopically, all the tumours were located in the tricuspid valve (TV), its septal leaflet being predominantly affected. Therefore, it appears that the TV is the most common site of occurrence for cardiac MT in dogs. Two gross anatomical types of canine valvular MT were evident. Seven of the 11 tumours were round or oval with a smooth or gently lobulated and glistening surface, while the other four were gelatinous, multilobulated and polypoid, with an irregular surface. Microscopically, in nine cases the tumours had an abundant myxoid matrix within which elongated spindle-shaped cells with no remarkable cytological atypia were sparsely embedded, suggesting a benign character (ie, myxoma). In the other two cases the tumours consisted of variably dense, haphazardly arranged, interlacing streams of anaplastic spindle-shaped or polygonal cells containing many mitotic figures, indicative of a malignant form of myxoma (ie, myxosarcoma). Isolated or clustered collections of myxoma cells (eg, cords, rings, syncytia) characteristic of human atrial myxoma were only rarely evident or lacking in all 11 cases, indicating that rarity or absence of such structural features may be specific to valvular MTs. Immunohistochemical findings were indicative of smooth muscle differentiation of the neoplastic cells. Tumour embolization to the intrapulmonary arteries and/or tumour implantation on the endocardium of the right heart chambers was evident only in the four cases of irregular-surfaced MT.
Topics: Humans; Dogs; Animals; Heart Neoplasms; Myxoma; Endocardium; Myxosarcoma; Dog Diseases
PubMed: 37944473
DOI: 10.1016/j.jcpa.2023.10.004 -
Journal of Liver Cancer Sep 2023Cancer-associated fibroblasts (CAFs) play an immunosuppressive role in the tumor microenvironment (TME) of human cancers; however, their characteristics and role in...
BACKGROUND/AIM
Cancer-associated fibroblasts (CAFs) play an immunosuppressive role in the tumor microenvironment (TME) of human cancers; however, their characteristics and role in hepatocellular carcinoma (HCC) remain to be elucidated.
METHODS
Nine tumor and surrounding liver tissue samples from patients with HCC who underwent surgery were used to isolate patient-derived CAFs. Cell morphology was observed using an optical microscope after culture, and cell phenotypes were evaluated using flow cytometry and immunoblotting. Cytokines secreted by CAFs into culture medium were quantified using a multiplex cytokine assay.
RESULTS
CAFs were abundant in the TME of HCC and were adjacent to immune cells. After culture, the CAFs and non-tumor fibroblasts exhibited spindle shapes. We observed a robust expression of alpha-smooth muscle actin and fibroblast activation protein in CAFs, whereas alpha-fetoprotein, epithelial cell adhesion molecule, platelet/endothelial cell adhesion molecule-1, and E-cadherin were not expressed in CAFs. Furthermore, CAFs showed high secretion of various cytokines, namely C-X-C motif chemokine ligand 12, interleukin (IL)-6, IL-8, and C-C motif chemokine ligand 2.
CONCLUSIONS
CAFs are abundant in the TME of HCC and play a crucial role in tumor progression. These fibroblasts secrete cytokines that promote tumor growth and metastasis.
PubMed: 37488925
DOI: 10.17998/jlc.2023.04.30 -
Histopathology Feb 2024Mesenchymal neoplasms involving TFE3 gene fusions are diverse, mainly include alveolar soft part sarcoma (ASPS) that is characterised by ASPSCR1::TFE3 fusion, and a...
AIMS
Mesenchymal neoplasms involving TFE3 gene fusions are diverse, mainly include alveolar soft part sarcoma (ASPS) that is characterised by ASPSCR1::TFE3 fusion, and a small subset of perivascular epithelioid cell tumours (PEComas) referred to as TFE3-rearranged PEComa, that most frequently harbours SFPQ::TFE3 fusion. Historically, ASPS and TFE3-rearranged PEComa are considered two distinctive entities despite their known morphological overlap. However, recent studies have suggested a potential histogenetic relationship between them, and several neoplasms that showed morphological features more closely fit PEComa rather than ASPS but harboured ASPSCR1::TFE3 fusion have been documented. In this study, we report three cases of PEComa with ASPSCR1::TFE3 fusion.
METHODS AND RESULTS
Clinicopathological features were assessed and partner agnostic targeted next-generation sequencing on clinically validated platforms were performed. The patients are two females and one male with age at presentation ranging from 21 to 51 years. All three tumours were located in the viscera (rectum, kidney and cervix). On a relatively limited follow-up period (range = 9-15 months), all patients are alive without evidence of recurrent or metastatic disease. The neoplasms were composed of tight nested architecture of epithelioid clear cells separated by a delicate vascular network, two of which were associated with sheets of plump spindle cells, and none showed significant discohesive tumour morphology. Immunohistochemically, in addition to TFE3 protein, all three neoplasms demonstrated co-expression of melan-A and smooth muscle actin. RNA-sequencing identified ASPSCR1::TFE3 fusion in all three cases that were confirmed by subsequent fluorescence in-situ hybridisation analyses.
CONCLUSIONS
Our study expands the molecular genetic spectrum of TFE3-rearranged PEComa and further indicates its close relationship to ASPS.
Topics: Female; Humans; Male; Young Adult; Adult; Middle Aged; Sarcoma, Alveolar Soft Part; Gene Fusion; Perivascular Epithelioid Cell Neoplasms; Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; Molecular Biology; Intracellular Signaling Peptides and Proteins
PubMed: 37936565
DOI: 10.1111/his.15087 -
Sleep Advances : a Journal of the Sleep... 2024Brain oscillations of non-rapid eye movement sleep, including slow oscillations (SO, 0.5-1.5 Hz) and spindles (10-16 Hz), mirror underlying brain maturation across...
Brain oscillations of non-rapid eye movement sleep, including slow oscillations (SO, 0.5-1.5 Hz) and spindles (10-16 Hz), mirror underlying brain maturation across development and are associated with cognition. Hence, age-associated emergence and changes in the electrophysiological properties of these rhythms can lend insight into cortical development, specifically in comparisons between pediatric populations and typically developing peers. We previously evaluated age-associated changes in SOs in male patients with Duchenne muscular dystrophy (DMD), finding a significant age-related decline between 4 and 18 years. While primarily a muscle disorder, male patients with DMD can also have sleep, cognitive, and cortical abnormalities, thought to be driven by altered dystrophin expression in the brain. In this follow-up study, we characterized the age-associated changes in sleep spindles. We found that age-dependent spindle characteristics in patients with DMD, including density, frequency, amplitude, and duration, were consistent with age-associated trends reported in the literature for typically developing controls. Combined with our prior finding of age-associated decline in SOs, our results suggest that SOs, but not spindles, are a candidate intervention target to enhance sleep in patients with DMD.
PubMed: 38525359
DOI: 10.1093/sleepadvances/zpae015 -
Diagnostic Cytopathology Aug 2023Intranodal palisaded myofibroblastoma (IPM) is an exceedingly rare benign mesenchymal tumor of the lymph nodes. Magnetic resonance imaging (MRI) findings are unspecific,... (Review)
Review
INTRODUCTION
Intranodal palisaded myofibroblastoma (IPM) is an exceedingly rare benign mesenchymal tumor of the lymph nodes. Magnetic resonance imaging (MRI) findings are unspecific, which may present diagnostic challenges to fine-needle aspiration cytology (FNAC). The histological and immunohistochemical features of IPM are unique.
CASE REPORT
A previously healthy 40-year-old male patient presented a slow-growing solitary left inguinal mass. FNAC revealed clustered cells within a metachromatic stroma, single spindle cells without atypia, hemosiderin pigment, and siderophages. An MRI showed a central hyperintense septum in fat-suppressed, T2-weighted sequences. The excised lymph node contained central haphazard fascicles of spindle cells with focal nuclear palisading, hemosiderin pigment, extravasated erythrocytes, and hemorrhagic areas. Vimentin and smooth muscle actin were diffusely positive. Amianthoid collagen fibers were not clearly observed.
CONCLUSION
IPM is an extremely rare mesenchymal benign intranodal tumor that should be included in the differential diagnosis of spindle cell lesions in the inguinal region.
Topics: Male; Humans; Adult; Hemosiderin; Lymph Nodes; Biopsy, Fine-Needle; Neoplasms, Muscle Tissue; Cytodiagnosis
PubMed: 37243568
DOI: 10.1002/dc.25172