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BMJ Case Reports Sep 2023Rectal polyps are finger-like projections of the mucosal surface that generally present with complaints of bleeding or mass per rectum. Polyps are classified...
Rectal polyps are finger-like projections of the mucosal surface that generally present with complaints of bleeding or mass per rectum. Polyps are classified histopathologically as neoplastic and non-neoplastic. Here, we present one such rare case of a middle-childhood boy who presented with complaints of bleeding per-rectum and revealed a 1.5 cm long rectal polyp. Histopathological examination revealed an osseous change in the rectal polyp. A detailed literature review of reported cases of benign rectal polyps with osseous metaplasia was conducted and consolidated all postulated theories of pathogenesis. This case report shows an interesting incidental finding of osseous metaplasia of the rectal polyp.
Topics: Male; Humans; Child; Rectal Neoplasms; Calcinosis; Rectum; Intestinal Polyps; Metaplasia; Choristoma
PubMed: 37751981
DOI: 10.1136/bcr-2023-254819 -
Journal of Clinical Ultrasound : JCU Jun 2024Endometrial osseous metaplasia (EOM) is a rare condition characterized by abnormal bone formation in the endometrium. This acts as a foreign body in the uterus. The...
Endometrial osseous metaplasia (EOM) is a rare condition characterized by abnormal bone formation in the endometrium. This acts as a foreign body in the uterus. The commonest clinical presentation is secondary infertility. Transvaginal ultrasonography is the mainstay of first-line diagnosis. Hysteroscopy confirms the diagnosis and aids in complete removal. Diagnosis of this condition is crucial as post-treatment fertility outcomes are good. This case highlights the importance of three-dimensional ultrasonography before infertility treatment and after hysteroscopic removal of osseous metaplasia to look for reactive endometrial polyps which may interfere with the embryo implantation and spontaneous conception altering the post-surgical fertility outcome.
PubMed: 38830834
DOI: 10.1002/jcu.23738 -
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 -
International Journal of Gynaecology... Apr 2024Osseous metaplasia of the endometrium is a rare entity in which there is presence of mature or immature bone tissue in the endometrium. It is a rare disorder that... (Review)
Review
Osseous metaplasia of the endometrium is a rare entity in which there is presence of mature or immature bone tissue in the endometrium. It is a rare disorder that usually leads to secondary infertility and is frequently associated with recurrent miscarriages and can be rarely asymptomatic. We present the case of a patient with endometrial ossification associated with secondary infertility. The patient presented with excessive vaginal discharge and was undergoing evaluation for secondary infertility. Transvaginal sonography showed a hyperechoic elongated lesion in the endometrium suggestive of endometrial calcification with posterior acoustic shadowing. Diagnostic hysteroscopy was done and the endometrial cavity showed multiple white-colored, solid, fan-shaped structures and bony spicules all over the endometrium, which were removed with a hysteroscopic grasper and sent for histopathological examination (HPE). The HPE confirmed the presence of bony trabeculae along with secretory endometrial glands. There have only been a few cases of endometrial osseous metaplasia reported in India and it is usually an overlooked cause of infertility. Although rare, we should consider this as a probable cause of secondary infertility when the characteristic ultrasound features are visualized and that hysteroscopic resection is the gold standard treatment.
PubMed: 38682474
DOI: 10.1002/ijgo.15581 -
The American Journal of Surgical... Sep 2023We present the clinicopathologic and immunohistochemical features of 14 endometrial glandular proliferations with conspicuous corded and hyalinized (CH) features...
We present the clinicopathologic and immunohistochemical features of 14 endometrial glandular proliferations with conspicuous corded and hyalinized (CH) features comprised entirely or predominantly of endometrial hyperplasia. Endometrial glandular lesions ranged in severity from endometrial hyperplasia with and without cytologic atypia (5/14 [36%]) to hyperplasia with architectural complexity bordering on well-differentiated endometrioid adenocarcinoma (3/14 [21%]) to frank corded and hyalinized endometrial carcinoma ("CHEC") (6/14 [43%]). In addition to sex cord-like growth and hyalinized stroma, other common histologic features included prominent spindle cells (11/14 [79%]), keratinizing and/or morular squamous differentiation (10/14 [71%]), and osseous metaplasia (6/14 [43%]). Immunohistochemical characterization revealed aberrant nuclear beta-catenin in all cases (14/14 [100%]); additionally, all cases demonstrated positive estrogen receptors, intact PTEN, PMS2 and MSH6, and wild-type p53 expression. Patients ranged in age from 24 to 58 (mean 38) years. Of 5 patients with hyperplasia with CH features, 2 experienced complete resolution after progestin therapy and none progressed to adenocarcinoma (mean follow-up 15.6 mo, range 2 to 64). By contrast, of 2 patients with hyperplasia bordering on CHEC and with available follow-up, both subsequently developed adenocarcinoma, suggesting that even focal increased architectural complexity may predict an elevated risk of malignancy. We conclude that CH morphology is not limited to endometrioid carcinoma and may occur across a spectrum of neoplastic proliferations, including those without sufficient architectural complexity or cytologic atypia to warrant classification as adenocarcinoma. We propose the term "corded and hyalinized endometrial hyperplasia" to describe this precursor lesion and report favorable outcomes with conservative treatment.
Topics: Female; Humans; Adult; Endometrial Hyperplasia; Hyperplasia; Endometrium; Endometrial Neoplasms; Carcinoma, Endometrioid; Adenocarcinoma
PubMed: 37493099
DOI: 10.1097/PAS.0000000000002078 -
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 -
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 -
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 -
The American Journal of Pathology Jul 2023Intervertebral disc (IVD) degeneration (IVDD) is usually accompanied by nucleus pulposus (NP) fibrosis and pathologic angiogenesis, which are possibly associated with...
Inhibiting Heat Shock Protein 90 Attenuates Nucleus Pulposus Fibrosis and Pathologic Angiogenesis Induced by Macrophages via Down-Regulating Cell Migration-Inducing Protein.
Intervertebral disc (IVD) degeneration (IVDD) is usually accompanied by nucleus pulposus (NP) fibrosis and pathologic angiogenesis, which are possibly associated with macrophage infiltration. Previous research indicates a destructive role of macrophages and the protective effect of inhibiting heat shock protein 90 (HSP90) in IVDD. Herein, the effects of inhibiting HSP90 on NP fibrosis and pathologic angiogenesis induced by macrophages were investigated further. Single-cell RNA-sequencing analysis was used to classify fibrotic NP cell (NPC) clusters and healthy NPC clusters in human NP tissues. The fibrotic NPC clusters were possibly associated with angiogenesis-related biological processes. Immunostaining showed the spatial association between blood vessel ingrowth and macrophage infiltration, as well as elevated levels of cell migration-inducing protein (CEMIP) and vascular endothelial growth factor A in severely degenerated human IVD tissues. Particularly, HSP90 inhibitor tanespimycin (17-AAG) ameliorated macrophage-induced fibrotic phenotype of NPCs via inhibiting CEMIP. M2, but not M1, macrophages promoted the pro-angiogenic ability of endothelial cells, which was attenuated by 17-AAG or HSP90 siRNA. Reversing the fibrotic phenotype of NPCs by Cemip siRNA also mitigated the pro-angiogenic effects of M2-conditioned medium-treated NPCs. Moreover, the murine IVDD model supported the 17-AAG-induced amelioration of NP fibrosis and endothelial cell invasion in IVD tissues. In conclusion, inhibiting HSP90 attenuated two interrelated pathologic processes, NP fibrosis and pathologic angiogenesis, induced by macrophages via down-regulating CEMIP.
Topics: Humans; Mice; Animals; Nucleus Pulposus; Intervertebral Disc; Intervertebral Disc Degeneration; Vascular Endothelial Growth Factor A; Endothelial Cells; Cell Movement; Heat-Shock Proteins; Neovascularization, Pathologic; Macrophages; Fibrosis; RNA, Small Interfering
PubMed: 37088454
DOI: 10.1016/j.ajpath.2023.03.014