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Diagnostic Pathology Jul 2019The bone formation within bladder tumors could be encountered in 3 conditions. These might consist of malignant bone formation in mesenchymal tumors; mixed mesenchymal... (Review)
Review
BACKGROUND
The bone formation within bladder tumors could be encountered in 3 conditions. These might consist of malignant bone formation in mesenchymal tumors; mixed mesenchymal and epithelial tumors; and epithelial tumors with stromal osseous metaplasia (SOM). This last is relatively rare. According to the English literature, only 12 cases have been reported in primary tumor and 7 in metastatic deposits of bladder primaries. Herein, we presented an additional case.
CASE PRESENTATION
An 83-year-old man was admitted 13 years ago for prostatic adenocarcinoma, treated with radical prostatectomy. Biochemical recurrence was detected 2 years after surgery (prostate-specific-antigen (PSA) level: 4.60 ng/mL) and progressively normalized (<1.0 ng/mL) after adjuvant radiotherapy and annual injection of leuprorelin (enantone). He was referred after 8 years for hematuria, PSA level having slightly increased (0.60 ng/ml). Cystoscopy showed a nodular growth in the bladder wall, visualized as a calcified tumor on computed tomography (CT) and removed with transurethral resection. Histologically, the tumor consists of a non-muscle-invasive high grade papillary urothelial carcinoma with metaplastic bone within the stroma. Immunohistochemical analysis particularly demonstrated positive expression of respectively CD56 on osteoblasts, and CD68 on osteoclasts. MDM2 and CDK4 were negatives on osteoid and bone tissue. Six courses of Bacillus Calmette-Guerin (BCG) therapy have been administered. Two local recidives have occurred during an 8-month follow-up period after immunotherapy and were treated with six further courses of BCG therapy. At one-month follow-up, the patient was well without remaining symptoms.
CONCLUSION
SOM is a rare benign condition whose pathogenesis remains uncompletely defined. Sarcomatoïd carcinoma represents the main differential diagnosis that influences therapeutic procedures. Prognosis depends essentially on the extent of the carcinomatous component .
Topics: Aged, 80 and over; Carcinoma, Papillary; Diagnosis, Differential; Follow-Up Studies; Humans; Immunohistochemistry; Male; Metaplasia; Prognosis; Stromal Cells; Urinary Bladder; Urinary Bladder Neoplasms; Urologic Neoplasms; Urothelium
PubMed: 31299983
DOI: 10.1186/s13000-019-0851-z -
Cureus Oct 2022Pilomatricomas are frequently misdiagnosed benign neoplasms of the skin derived from hair matrix cells. Pilomatricomas may undergo calcification and ossification...
Pilomatricomas are frequently misdiagnosed benign neoplasms of the skin derived from hair matrix cells. Pilomatricomas may undergo calcification and ossification although the latter is rare and poorly documented, with only eight cases reported since 2006. We present a case of pilomatricoma with osseous metaplasia arising from the scalp in an 87-year-old female patient. She was referred by her general practitioner via the two-week cancer referral pathway, for a suspicious lesion. On examination, there was a 2 x 1cm nodule, with protruding hardened yellow material, on the right side of the patient's occipital scalp. The lump was hard, non-tender and had been present for 17 years. The surrounding area was bleeding and slightly ulcerated. A clinical diagnosis of a ruptured epidermal cyst was made, and the patient was prepared for excision under local anaesthesia. The excised lesion of 23 x 18 x 10mm with 22 x 9mm of skin was sent for histology. This revealed a partially ulcerated dermal lesion composed of islands of keratin with 'ghost cell' outlines. Foreign body granulomas, transition to mature lamellar bone, and foci of calcification were noted. There were no definite populations of basaloid cells and features of malignancy were not seen. These findings are consistent with benign pilomatricoma with osseous metaplasia. The patient was discharged 4 weeks later with satisfactory wound healing. Differentiating this tumour from other commonly encountered benign masses remains a challenge, as seen in this case which was initially misdiagnosed as a ruptured epidermal cyst.
PubMed: 36311481
DOI: 10.7759/cureus.30661 -
Surgical Case Reports Feb 2023Tumor embolization due to venous infiltration of breast cancer pulmonary metastases is very rare.
BACKGROUND
Tumor embolization due to venous infiltration of breast cancer pulmonary metastases is very rare.
CASE PRESENTATION
A 72-year-old female was diagnosed with triple-negative breast cancer. Neoadjuvant chemotherapy was discontinued because of progressive disease, and a right mastectomy with sentinel lymph node biopsy was performed. The pathological analysis of surgical specimens revealed carcinoma with cartilaginous and/or osseous metaplasia. At 22 months after surgery, lung metastasis was observed, and 6 months after initiating treatment for lung metastases, she complained of sudden numbness in the left-lower limb with trouble walking. Ultrasonography showed an embolism in the left popliteal artery, and contrast computed tomography showed enlarged lung metastases and infiltration of the left-upper lobe disease into the left superior pulmonary vein and left atrium. Acute arterial occlusive disease in the left-lower limb caused by the tumor embolism was suspected, so an endovascular thrombectomy was performed. Tumor emboli were removed by embolectomy catheter.
CONCLUSION
This report of lung metastasis from breast cancer with cartilaginous and/or osseous metaplasia and acute lower-limb artery occlusion due to a tumor thrombus adds useful information to the literature on these extremely rare cases.
PubMed: 36723693
DOI: 10.1186/s40792-023-01598-8 -
The American Journal of Case Reports Mar 2020BACKGROUND Osseous metaplasia is a heterotopic normal bone in soft tissues. It is occasionally found in mucosal polyps of the external auditory canal, tongue, gut,... (Review)
Review
BACKGROUND Osseous metaplasia is a heterotopic normal bone in soft tissues. It is occasionally found in mucosal polyps of the external auditory canal, tongue, gut, stomach, nasal cavity, and uterus. Choanal polyp with osseous metaplasia originating from the lateral wall of the nasopharynx has not been previously reported. In fact, osseous metaplasia in nasal polyps represents a very uncommon histological finding with only 12 cases described in the literature. CASE REPORT We reported here, the clinical, radiological, and therapeutic management of a nasopharynx choanal polyp in a patient with severe nasal obstruction and rhinolalia history. Endoscopic examination of nasal cavities revealed a polypoid-like mass in the left nasal fossa, extending to the choanal area and nasopharynx. Computed tomography scan and contrast-enhanced magnetic resonance imaging confirmed the presence of a solitary and lobulated mass in the choanal area and nasopharynx. We performed the removal of the mass through careful hemostasis of left sphenopalatine artery using both transnasal and transoral paths, with no complications for the patient. Histopathological examination of the biopsy revealed a benign inflammatory polyp with osseous metaplasia. No recurrence was noted 24 months after surgery. CONCLUSIONS The incidence of ossifying areas in nasal polyps is very low, with only 12 cases reported in the literature. Ossifying polyps originating from the lateral wall of nasopharynx has never been reported before. The use of a combined endoscopic and transoral surgical approach was shown to be reliable in terms of adequate exposure and visualization of the lesion, control of bleeding, and complete removal of the mass.
Topics: Female; Humans; Metaplasia; Middle Aged; Nasal Obstruction; Nasal Polyps; Nasopharynx
PubMed: 32225129
DOI: 10.12659/AJCR.921494 -
Journal of Cytology 2024
PubMed: 38779610
DOI: 10.4103/joc.joc_115_23 -
Breast Cancer (Dove Medical Press) 2021Metaplastic breast cancer (MpBC) is a fascinating morphologic sub-type of breast cancer, characterised by intra-tumoural heterogeneity. By definition, these tumors show... (Review)
Review
Metaplastic breast cancer (MpBC) is a fascinating morphologic sub-type of breast cancer, characterised by intra-tumoural heterogeneity. By definition, these tumors show regions of metaplasia that can present as spindle, squamous, chondroid or even osseous differentiation. MpBC are typically triple-negative, and are therefore not targetable with hormone therapy or anti-HER2 therapies, leaving only chemotherapeutics for management. MpBC are known for their aggressive course and poor response to chemotherapy. We review herein the pathology and molecular landscape of MpBC and discuss opportunities for targetted therapies as well as immunotherapies.
PubMed: 33664587
DOI: 10.2147/BCTT.S296784 -
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 -
Ear, Nose, & Throat Journal Feb 2023Thyroid nodules are frequently accompanied by degenerative changes, such as hemorrhage, cholesterol crystallization, fibrous tissue deposition, or filling with fat....
Thyroid nodules are frequently accompanied by degenerative changes, such as hemorrhage, cholesterol crystallization, fibrous tissue deposition, or filling with fat. Although calcification is also a common phenomenon, osteogenesis, characterized by mature bone formation, is very rare. Here, we describe a case of Hashimoto's thyroiditis with osseous metaplasia and ectopic bone formation case and discuss its possible causes.
Topics: Humans; Thyroiditis, Autoimmune; Osteogenesis; Hashimoto Disease; Calcinosis; Metaplasia
PubMed: 36112898
DOI: 10.1177/01455613221125922 -
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 -
The Indian Journal of Radiology &... 2019Osseous metaplasia of inflammatory sinonasal polyp is an extremely rare entity. Correct preoperative diagnosis by noncontrast CT scan is needed to rule out other more...
Osseous metaplasia of inflammatory sinonasal polyp is an extremely rare entity. Correct preoperative diagnosis by noncontrast CT scan is needed to rule out other more common bony neoplasms in paranasal sinuses and for accurate surgical planning. Here, we present a case of 20-year-old patient with an antrochoanal polyp with osseous metaplasia. We describe the lesion and discuss the radiological differential diagnosis thereby providing a brief review of literature of the few published cases worldwide along with histopathological correlation.
PubMed: 31949355
DOI: 10.4103/ijri.IJRI_488_18