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Ecancermedicalscience 2023Mucoepidermoid carcinoma starts in the salivary glands and accounts for 5%-10% of all salivary gland tumours. Its intraosseous occurrence is rare and only accounts for...
BACKGROUND
Mucoepidermoid carcinoma starts in the salivary glands and accounts for 5%-10% of all salivary gland tumours. Its intraosseous occurrence is rare and only accounts for 2%-3% of all mucoepidermoid carcinomas. This neoplasm often follows a long and indolent course. Also, given its ambiguous presentation and similarities to other dental pathologies, it often has a late diagnosis. In this instance, we present the case of a patient with an asymptomatic mandibular lesion, who underwent mandibular resection and reconstruction with fibula free flap.
CASE REPORT
A 32-year-old male patient reported discomfort when chewing, which was attributable to a self-detected mass localised in proximity to teeth 47 and 48. The lesion presented as a slight swelling without clear expression in the oral cavity mucosa. The rest of the physical examination revealed no abnormalities. Both the panoramic radiograph and computed tomography of the maxillary bones revealed lytic lesions in proximity to teeth 47 and 48, close to the mandibular angle. An incisional biopsy was performed, for which the pathological anatomy showed low-grade mucoepidermoid carcinoma. A resection was then performed, which involved a right hemimandibulectomy with ipsilateral cervical lymphadenectomy. The reconstruction was performed with a right fibula-free flap. Upon histological evaluation of the surgical specimen, an intermediate-grade mucoepidermoid carcinoma was found. The patient presented good post-operative evolution. Following a multidisciplinary assessment, the use of adjuvant radiation therapy was deemed necessary. The patient currently presents good evolution and has regular check-ups.
CONCLUSION
Intraosseous mucoepidermoid carcinoma is a rare salivary gland tumour. Given its low frequency, there are no studies that accurately describe its biological behaviour and prognosis.
PubMed: 37799952
DOI: 10.3332/ecancer.2023.1599 -
Asian Journal of Neurosurgery 2018Intraparenchymal or intradiploic epidermoid cysts are very rare. Most of these cysts, when present, tend to involve the frontal and temporal lobes, and occasionally, the...
Intraparenchymal or intradiploic epidermoid cysts are very rare. Most of these cysts, when present, tend to involve the frontal and temporal lobes, and occasionally, the pineal gland or the brain stem. Here, we report a 45-year-old female, who presented with localized occipital headache and a tender occipital swelling, gradually increasing in size. She was hemodynamically and neurologically stable and did not have any focal neurological deficits. Whole skull and brain imaging revealed a well-demarcated expansile lytic lesion in the right occipital bone, which was hypointense on T1-weighted and hyperintense on both T2-weighted imaging and diffusion-weighted imaging without any contrast enhancement. The patient underwent a right occipital craniotomy and total excision of the intradiploic space occupying lesion. Histopathological examination confirmed the lytic bone lesion over occipital bone as intradiploic epidermoid cyst.
PubMed: 29682075
DOI: 10.4103/1793-5482.181146 -
Cureus Aug 2022The unusual disorder known as Langerhans cell histiocytosis, which is most frequently seen in children and young adults, is caused by the clonal proliferation of...
The unusual disorder known as Langerhans cell histiocytosis, which is most frequently seen in children and young adults, is caused by the clonal proliferation of Langerhans cells. Even if clinical signs and radiographic evidence of destructive bone lesions may raise suspicion of the disease, a reliable diagnosis without a thorough pathological examination is challenging. This report describes a case of eosinophilic granuloma of the mandible in a nine-year-old child with characteristic radiological, histopathological, and immunohistochemical features.
PubMed: 36158441
DOI: 10.7759/cureus.28222 -
Therapeutic Advances in Hematology Feb 2017Multiple myeloma (MM) is the second most common hematologic malignancy. The diagnosis of MM requires ⩾10% clonal plasma cells in the bone marrow or biopsy-proven... (Review)
Review
Multiple myeloma (MM) is the second most common hematologic malignancy. The diagnosis of MM requires ⩾10% clonal plasma cells in the bone marrow or biopsy-proven plasmacytoma, plus evidence of end-organ damage (hypercalcemia, renal failure, anemia, and lytic bone lesions). The definition of MM has recently been expanded to include a ⩾60% clonal plasma cell burden in the bone marrow, serum involved/uninvolved light chain ratio of ⩾100, or more than one focal lesion on magnetic resonance imaging ⩾5 mm in the absence of end-organ damage. MM is an incurable malignancy previously associated with poor survival rates. However, over the past two decades, the introduction of novel treatment options has resulted in a dramatic improvement in response rates and overall survival (OS). The combination of a proteasome inhibitor and an immunomodulator (IMiD) is the preferred induction treatment for newly diagnosed transplant-eligible MM patients. After induction, high-dose therapy with autologous stem cell transplant (ASCT) is still the standard of care for these patients. In patients who are transplant ineligible, dose adjusted IMiDs or proteasome inhibitor-based combinations are the preferred treatment option. With the recent approval of novel drugs like carfilzomib, ixazomib, pomalidomide, panobinostat, and monoclonal antibodies (elotuzumab and daratumumab), as well as improved understanding of risk stratification, management of comorbidities and treatment side effects, clinicians can optimize anti-MM therapy, particularly in relapse/refractory MM patients. In this review, we outline the current therapeutic approach to the management of MM.
PubMed: 28203342
DOI: 10.1177/2040620716680548 -
Otology & Neurotology Open Sep 2023This report describes a case of sarcoidosis that presented as a lytic bone lesion in the squamous part of the temporal bone.
OBJECTIVE
This report describes a case of sarcoidosis that presented as a lytic bone lesion in the squamous part of the temporal bone.
PATIENTS
A 64-year-old woman presented with right-sided aural fullness, pulsatile tinnitus, and intermittent otalgia.
INTERVENTIONS
CT and MRI were performed without contrast and suggested an osseodestructive, lytic bone lesion. An excisional biopsy was performed, showing granulomatous infiltration suggestive of osseous sarcoidosis.
MAIN OUTCOME MEASURES
Removal of mass and resolution of symptoms.
RESULTS
Initial findings from patient imaging suggested a lytic bone lesion. An excisional biopsy was required for diagnosis and was performed with little patient morbidity. Biopsy findings showed granulomatous infiltration suggestive of osseous sarcoidosis. Osseous involvement of sarcoidosis is a rare manifestation and typically occurs secondary to other disease manifestations. After the removal of the mass and a short unrelated course of steroids, the patient's symptoms resolved.
CONCLUSIONS
Sarcoidosis should be added to the differential diagnosis of lytic bone lesions in the temporal bone.
PubMed: 38515640
DOI: 10.1097/ONO.0000000000000039 -
World Journal of Surgical Oncology Dec 2022Cystic angiomatosis is a rare benign disease manifesting as multiple lytic and sclerotic bone lesions, described as the proliferation of vascular and lymphatic channels... (Review)
Review
BACKGROUND
Cystic angiomatosis is a rare benign disease manifesting as multiple lytic and sclerotic bone lesions, described as the proliferation of vascular and lymphatic channels lined by a single layer of endothelial cells. However, the potential pathogenetic mechanism of the disease still remains unknown. Here, we reported a case of cystic angiomatosis with multifocal bone lesion evaluated by whole exome sequencing.
CASE DESCRIPTION
In this presentation, we reported a case of an 11-year-old boy with pain in his chest. Computed tomography (CT) revealed the multiple lytic of the bone in the ribs, clavicle, vertebra thoracalis, skull, mandibula, shoulder blade, etc. The blood test showed ALP to be 393U/L and VEGF to be 287.26 pg/ml. The patient was performed with an open biopsy in the ribs and was diagnosed with cystic angiomatosis. Besides, the whole exome sequencing reported the single-nucleotide substitutions in the coding region of BRIP1, CHEK2, GRM4, and MUC16. Then, the upregulated genes involved CASC15, CENPF, ABCA13, ALK, BLM, and FGFR3.
CONCLUSIONS
In this article, we report a rare case of cystic angiomatosis in a child with abnormal VEGF and ALP reported by peripheral blood examination. The whole exome sequencing could provide the reference for the potential molecular mechanism in the diagnosis and treatment of cystic angiomatosis.
Topics: Child; Humans; Endothelial Cells; Vascular Endothelial Growth Factor A
PubMed: 36482360
DOI: 10.1186/s12957-022-02864-z -
The Neuroradiology Journal Oct 2018Background and purpose Sacral intraosseous schwannomas represent a rare subset of schwannomas. The existing literature detailing the radiographic appearance of... (Review)
Review
Background and purpose Sacral intraosseous schwannomas represent a rare subset of schwannomas. The existing literature detailing the radiographic appearance of intraosseous schwannomas is limited. The aim of this study is to formally characterize the radiological appearance of sacral intraosseous schwannomas to differentiate them from other lytic lesions. Materials and methods Imaging studies of 13 pathologically proven intraosseous schwannomas were reviewed from multiple institutions by fellowship-trained radiologists. A PubMed search was performed and identified four papers pertaining to the imaging characteristics of sacral intraosseous schwannomas. The results of these papers were compared to findings from our cases. Results All tumors had heterogeneous signals and were predominately solid but cystic components with fluid-fluid levels were present. The tumors caused a mass effect but none infiltrated the surrounding soft tissues. Post-contrast T1-weighted images revealed heterogeneous enhancement in all 13 tumors and four possessed non-enhancing cysts. A literature review identified 16 other cases of sacral intraosseous schwannomas forming a total of 29 cases examined. Conclusions Sacral intraosseous schwannomas should be considered in the differential diagnosis for both radiologists and pathologists when dealing with large expansile, lytic lesions, with well-defined sclerotic margins involving the sacrum. This is particularly important in middle-aged adults presenting with pathology centered around S2-3.
Topics: Humans; Magnetic Resonance Imaging; Neurilemmoma; Sacrum; Spinal Neoplasms
PubMed: 29890877
DOI: 10.1177/1971400918782321 -
Frontiers in Oncology 2021Metastatic tumor deposits in bone marrow elicit differential bone responses that vary with the type of malignancy. This results in either sclerotic, lytic, or mixed bone... (Review)
Review
Metastatic tumor deposits in bone marrow elicit differential bone responses that vary with the type of malignancy. This results in either sclerotic, lytic, or mixed bone lesions, which can change in morphology due to treatment effects and/or secondary bone remodeling. Hence, morphological imaging is regarded unsuitable for response assessment of bone metastases and in the current Response Evaluation Criteria In Solid Tumors 1.1 (RECIST1.1) guideline bone metastases are deemed unmeasurable. Nevertheless, the advent of functional and molecular imaging modalities such as whole-body magnetic resonance imaging (WB-MRI) and positron emission tomography (PET) has improved the ability for follow-up of bone metastases, regardless of their morphology. Both these modalities not only have improved sensitivity for visual detection of bone lesions, but also allow for objective measurements of bone lesion characteristics. WB-MRI provides a global assessment of skeletal metastases and for a one-step "all-organ" approach of metastatic disease. Novel MRI techniques include diffusion-weighted imaging (DWI) targeting highly cellular lesions, dynamic contrast-enhanced MRI (DCE-MRI) for quantitative assessment of bone lesion vascularization, and multiparametric MRI (mpMRI) combining anatomical and functional sequences. Recommendations for a homogenization of MRI image acquisitions and generalizable response criteria have been developed. For PET, many metabolic and molecular radiotracers are available, some targeting tumor characteristics not confined to cancer type (e.g. F-FDG) while other targeted radiotracers target specific molecular characteristics, such as prostate specific membrane antigen (PSMA) ligands for prostate cancer. Supporting data on quantitative PET analysis regarding repeatability, reproducibility, and harmonization of PET/CT system performance is available. Bone metastases detected on PET and MRI can be quantitatively assessed using validated methodologies, both on a whole-body and individual lesion basis. Both have the advantage of covering not only bone lesions but visceral and nodal lesions as well. Hybrid imaging, combining PET with MRI, may provide complementary parameters on the morphologic, functional, metabolic and molecular level of bone metastases in one examination. For clinical implementation of measuring bone metastases in response assessment using WB-MRI and PET, current RECIST1.1 guidelines need to be adapted. This review summarizes available data and insights into imaging of bone metastases using MRI and PET.
PubMed: 34869009
DOI: 10.3389/fonc.2021.772530 -
Maedica Mar 2024Enchordoma of the distal phalange of the thumb is extremely rare. We report a case of 31-year-old man who presented with a pathological fracture of the left thumb....
Enchordoma of the distal phalange of the thumb is extremely rare. We report a case of 31-year-old man who presented with a pathological fracture of the left thumb. Imaging evaluation revealed a lytic lesion and surgical curettage with bone graft was performed after fracture healing. Histological examination confirmed the diagnosis of enchordoma. The postoperative period was uncomplicated without signs of recurrence. Lytic lesions in the thumb are uncommon occurrences and necessitate a comprehensive examination to determine their potential causes. Given the significant functional role of the thumb compared to other fingers, it is crucial to undergo radiological assessment and further investigation of these lytic lesions.
PubMed: 38736932
DOI: 10.26574/maedica.2024.19.11.177 -
Bone May 2021Multiple myeloma (MM) patients frequently present with extensive osteolytic bone lesions. However, the impact of myeloma treatment on focal lytic lesion remineralization...
Multiple myeloma (MM) patients frequently present with extensive osteolytic bone lesions. However, the impact of myeloma treatment on focal lytic lesion remineralization has not been extensively studied. In this study, the effect of anti-myeloma treatment on the extent of bone remineralization was examined and potential mediators identified. Newly diagnosed MM patients enrolled in the Total Therapy 4 and 5 (TT4; n = 231, TT5; n = 64) protocols were longitudinally evaluated for changes in radiological parameters for a median of 6.1 years. Bone remineralization was defined as a sclerotic CT change within the lytic lesion and quantified as a percentage of remineralization, using the initial lesion size as a reference. Such changes were correlated to clinical and biochemical parameters, and the gene expression profile of bone marrow biopsy. Overall, remineralization occurred in 72% of patients (213/295). Of those patients that experienced remineralization, 36% (107/295) achieved at least 25% of bone remineralization. Patients with high-risk disease defined by gene expression profile signature (GEP70 ≥ 0.66) experienced significant remineralization compared to low-risk MM. Female patients were also more likely to experience bone remineralization and in a shorter median time (2.0 vs. 3.3 y). Factors such as serum alkaline phosphatase along with high levels of RUNX2 and SOX4 gene expression correlated with increasing extent of bone remineralization. This analysis demonstrated significant remineralization of lytic lesions in MM patients treated on TT clinical trials. While the underlying mechanism remains elusive these findings support the hypothesis that patient baseline bone-related factors play a fundamental role in the skeletal repair of bone lesions in MM that provide new opportunities for improving patient outcomes.
Topics: Arkansas; Bone Diseases; Bone Marrow; Bone and Bones; Female; Humans; Multiple Myeloma; SOXC Transcription Factors
PubMed: 33556629
DOI: 10.1016/j.bone.2021.115876