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Turk Patoloji Dergisi May 2024Bronchial involvement in pulmonary actinomycosis is rare and has been reported in the literature rarely. However, these reports describe endobronchial actinomycosis...
Bronchial involvement in pulmonary actinomycosis is rare and has been reported in the literature rarely. However, these reports describe endobronchial actinomycosis secondary to foreign body aspiration (for example, a fish bone). Our case did not have any history or clinical evidence suggesting foreign body aspiration, which makes it even more rare. A 55-year-old woman presented with complaints of on and off haemoptysis and cough for three weeks. In view of the haemoptysis and consolidation seen on imaging, a bronchoalveolar lavage was done and sent for cytological assessment. Few atypical cells with nuclear hyperchromasia and prominent nucleoli were noted. In view of the persistent haemoptysis, worsening symptoms, and non-resolution of the consolidation despite antibiotics, and the finding of atypical cells, segmental resection was done. A final diagnosis of bronchiectatic actinomycosis with osseous metaplasia was given. The patient was started on prolonged antibiotics with good response and recovery. Other risk factors associated with pulmonary actinomycosis include alcoholism, diabetes, haematological diseases, human immunodeficiency viral infection, use of immunosuppressants, and rarely chronic lung diseases, such as bronchiectasis. Our case had this rare association of bronchiectasis with bronchial actinomycosis. Bronchiectatic actinomycosis is a rare infection and it can mimic several lung disorders like unresolving pneumonia, pulmonary tuberculosis, foreign body, and even lung tumours. The pathologists and clinicians should be aware of this entity and thus help in the early diagnosis and better management of patients with this disease.
PubMed: 38801125
DOI: 10.5146/tjpath.2024.13407 -
Anais Brasileiros de Dermatologia Jun 2024
PubMed: 38853108
DOI: 10.1016/j.abd.2023.05.012 -
Gynecology and Minimally Invasive... 2023Endometrial osseous metaplasia (EOM) is an uncommon clinical entity with the presence of bone in the endometrium which requires clinical and therapeutic framework. It is...
Endometrial osseous metaplasia (EOM) is an uncommon clinical entity with the presence of bone in the endometrium which requires clinical and therapeutic framework. It is also described by various other names such as endometrial ossification, ectopic intrauterine bone, and heterotopic intrauterine bone. Ossification could have various locations as the cervix the ovary, and the vagina. This overview highlights the attention on the actual pivotal points of EOM.
PubMed: 38034103
DOI: 10.4103/gmit.gmit_89_22 -
Cureus May 2024Rectal mucosal prolapse is uncommon in children. While most patients present with rectal bleeding and constipation, the occurrence of osseous metaplasia within the...
Rectal mucosal prolapse is uncommon in children. While most patients present with rectal bleeding and constipation, the occurrence of osseous metaplasia within the prolapsed mucosa is extremely rare. Overlapping clinical, gross, and histological features between rectal mucosal prolapse polyps and malignancy pose a challenge for diagnoses. We describe a case of a 16-year-old male who had a rectal mucosal prolapsed polyp with osseous metaplasia. He initially presented due to periumbilical pain with a sore throat and fever. Incidentally, during the workup of his periumbilical pain, he was found to have a soft tissue mass in his rectum on a CT scan, with a biopsy confirming the diagnosis. The case was complicated by the development of sepsis. The patient was treated with empiric antibiotics and was discharged without further complications.
PubMed: 38826948
DOI: 10.7759/cureus.59480 -
Journal of Cytology 2024
PubMed: 38779610
DOI: 10.4103/joc.joc_115_23 -
Medicina (Kaunas, Lithuania) Oct 2023Osseous tissue in the endometrium is a rare find, and it is most often discovered when the patient presents with infertility. It is frequently associated with...
Osseous tissue in the endometrium is a rare find, and it is most often discovered when the patient presents with infertility. It is frequently associated with dysmenorrhea and abnormal menstrual bleedings. Although its etiology remains unclear, in almost all described cases until now, the patient has an obstetrical history. : In this report, we present a unique case of endometrial osseous metaplasia in a 27-year-old primary infertile patient. The transvaginal ultrasound revealed a 18/13/7 mm hyperechoic endometrial mass with posterior acoustic shadowing and no flow on color Doppler. A hysteroscopic examination found a polygonal calcification on the endometrial posterior face of the uterine cavity, in the corporeal isthmic region, which was extracted. The histopathological evaluation revealed microscopic elements compatible with endometrial calcification. The patient had a good postoperative course and the complex endocrinologic, immunologic and electrolytical investigation failed to prove any abnormality. Follow-up transvaginal ultrasound examinations revealed no modifications. Three years later, the patient conceived spontaneously, had an uneventful pregnancy and delivered a full-term fetus. : We assumed that this entity can be a serious cause of infertility since the patient had a long history of (primary) infertility and its resection made the pregnancy's occurrence possible. Finally, since neither history of abortion or chronic inflammation nor any abnormal laboratory test were noticed, we concluded that the etiology of this entity remained unclear.
Topics: Pregnancy; Female; Humans; Adult; Infertility, Female; Hysteroscopy; Ossification, Heterotopic; Endometrium; Calcinosis; Metaplasia
PubMed: 37893521
DOI: 10.3390/medicina59101803 -
Modern Pathology : An Official Journal... Jun 2024GLI1(12q13.3) amplification is identified in a subset of mesenchymal neoplasms with a distinct nested round cell/epithelioid phenotype. MDM2 and CDK4 genes are situated...
GLI1(12q13.3) amplification is identified in a subset of mesenchymal neoplasms with a distinct nested round cell/epithelioid phenotype. MDM2 and CDK4 genes are situated along the oncogenic 12q13-15 segment, amplification of which defines well-differentiated liposarcoma (WDLPS)/dedifferentiated liposarcoma (DDLPS). The 12q amplicon can occasionally include GLI1, a gene in close proximity to CDK4. We hereby describe the first cohort of GLI1/MDM2/CDK4 coamplified WD/DDLPS. The departmental database was queried retrospectively for all cases of WD/DDLPS having undergone next-generation (MSK-IMPACT) sequencing with confirmed MDM2, CDK4, and GLI1 coamplification. Clinicopathologic data was obtained from a review of the medical chart and available histologic material. Four hundred eighty-six WD/DDLPS cases underwent DNA sequencing, 92 (19%) of which harbored amplification of the GLI1 locus in addition to that of MDM2 and CDK4. These included primary tumors (n = 60), local recurrences (n = 29), and metastases (n = 3). Primary tumors were most frequently retroperitoneal (47/60, 78%), mediastinal (4/60, 7%), and paratesticular (3/60, 5%). Average age was 63 years, with a male:female ratio of 3:2. The cohort was comprised of DDLPS (86/92 [93%], 6 of which were WDLPS with early dedifferentiation) and WDLPS without any longitudinal evidence of dedifferentiation (6/92, 7%). One-fifth (13/86, 17%) of DDLPS cases showed no evidence of a well-differentiated component in any of the primary, recurrent, or metastatic specimens. Dedifferentiated areas mostly showed high-grade undifferentiated pleomorphic sarcoma-like (26/86,30%) and high-grade myxofibrosarcoma-like (13/86,16%) morphologies. A disproportionately increased incidence of meningothelial whorls with/without osseous metaplasia was observed as the predominant pattern in 16/86 (19%) cases, and GLI1-altered morphology as described was identified in a total of 10/86 (12%) tumors. JUN (1p32.1), also implicated in the pathogenesis of WD/DDLPS, was coamplified with all 3 of MDM2, CDK4, and GLI1 in 7/91 (8%) cases. Additional loci along chromosomal arms 1p and 6q, including TNFAIP3, LATS1, and ESR1, were also amplified in a subset of cases. In this large-scale cohort of GLI1 coamplified WD/DDLPS, we elucidate uniquely recurrent features including meningothelial whorl-like and GLI-altered morphology in dedifferentiated areas. Assessment of tumor location (retroperitoneal or mediastinal), identification of a well-differentiated liposarcoma component, and coamplification of other spatially discrete genomic segments (1p and 6q) might aid in distinction from tumors with true driver GLI1 alterations.
Topics: Humans; Male; Liposarcoma; Female; Middle Aged; Aged; Zinc Finger Protein GLI1; Adult; Cyclin-Dependent Kinase 4; Aged, 80 and over; Gene Amplification; Retrospective Studies; Proto-Oncogene Proteins c-mdm2; Biomarkers, Tumor
PubMed: 38621503
DOI: 10.1016/j.modpat.2024.100494 -
Journal of Medical Case Reports Dec 2023Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are...
BACKGROUND
Gastrointestinal stromal tumor is considered the most common mesenchymal neoplasm of the gastrointestinal tract. The majority of gastrointestinal stromal tumor cases are located in the stomach and usually affects older adults. Most of gastrointestinal stromal tumor cases are sporadic; however, few have a syndromic association, including Carney triad, Carney-Stratakis syndrome, familial gastrointestinal stromal tumor syndrome, and neurofibromatosis type 1.
CASE PRESENTATION
Herein, we report a rare case of a 54-year-old Middle-Eastern female with multifocal gastrointestinal stromal tumor mixed type (epithelioid and spindle cell type) with osseous metaplasia. Fluoresce in situ hybridization analysis of platelet-derived growth factor receptor alpha revealed deletion in 42% of the tumor cells studied. Interestingly, next generation sequencing revealed platelet-derived growth factor receptor alpha exon 12 mutation (p.Y555C) and exon 14 mutation (p.N659Y).
CONCLUSIONS
In conclusion, osseous metaplasia in GIST is a very rare event and only few cases are reported in the literature. The number of reported cases is inadequate to confirm the pathogenesis and the prognosis.
Topics: Humans; Female; Aged; Middle Aged; Gastrointestinal Stromal Tumors; Stomach Neoplasms; Metaplasia; Receptors, Platelet-Derived Growth Factor; Mutation
PubMed: 38098096
DOI: 10.1186/s13256-023-04262-9 -
Ear, Nose, & Throat Journal Mar 2024Choanal polyps belong to a special type of nasal polyps, which are quite uncommon if originating from the nasal septum, especially those with osseous metaplasia. In this...
Choanal polyps belong to a special type of nasal polyps, which are quite uncommon if originating from the nasal septum, especially those with osseous metaplasia. In this article, we report the case of a 63-year-old male patient with persistent nasal obstruction on the right side. An irregular light yellow lobulated mass with smooth surface could be visualized in the nasal cavity through nasal endoscopy, arising from the right nasal septum and extending to the nasopharynx. Computed tomography scan showed a large soft tissue shadow of the nasal meatus, with ossified structure in the center. Histopathological biopsy revealed nasopharyngeal mucositis. The patient underwent functional endoscopic sinus surgery and the polypoidal mass sent for histopathological examination proved to be choanal polyps.
PubMed: 38444148
DOI: 10.1177/01455613241234249 -
Frontiers in Endocrinology 2024Osteoporosis (OP) is a chronic systemic bone metabolism disease characterized by decreased bone mass, microarchitectural deterioration, and fragility fractures. With the... (Review)
Review
Osteoporosis (OP) is a chronic systemic bone metabolism disease characterized by decreased bone mass, microarchitectural deterioration, and fragility fractures. With the demographic change caused by long lifespans and population aging, OP is a growing health problem. The role of miRNA in the pathogenesis of OP has also attracted widespread attention from scholars in recent years. Type H vessels are unique microvessels of the bone and have become a new focus in the pathogenesis of OP because they play an essential role in osteogenesis-angiogenesis coupling. Previous studies found some miRNAs regulate type H vessel formation through the regulatory factors, including platelet-derived growth factor-BB (PDGF-BB), hypoxia-inducible factor 1α (HIF-1α), vascular endothelial growth factor (VEGF), and so on. These findings help us gain a more in-depth understanding of the relationship among miRNAs, type H vessels, and OP to find a new perspective on treating OP. In the present mini-review, we will introduce the role of type H vessels in the pathogenesis of OP and the regulation of miRNAs on type H vessel formation by affecting regulatory factors to provide some valuable insights for future studies of OP treatment.
Topics: Animals; Humans; Bone and Bones; MicroRNAs; Microvessels; Neovascularization, Pathologic; Osteogenesis; Osteoporosis
PubMed: 38883597
DOI: 10.3389/fendo.2024.1394785