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BMC Cardiovascular Disorders May 2024Sudden cardiac death (SCD) is a major public health issue worldwide. In the young (< 40 years of age), genetic cardiomyopathies and viral myocarditis, sometimes in...
Sudden cardiac death (SCD) is a major public health issue worldwide. In the young (< 40 years of age), genetic cardiomyopathies and viral myocarditis, sometimes in combination, are the most frequent, but underestimated, causes of SCD. Molecular autopsy is essential for prevention. Several studies have shown an association between genetic cardiomyopathies and viral myocarditis, which is probably underestimated due to insufficient post-mortem investigations. We report on four autopsy cases illustrating the pathogenesis of these combined pathologies. In two cases, a genetic hypertrophic cardiomyopathy was diagnosed in combination with Herpes Virus Type 6 (HHV6) and/or Parvovirus-B19 (PVB19) in the heart. In the third case, autopsy revealed a dilated cardiomyopathy and virological analyses revealed acute myocarditis caused by three viruses: PVB19, HHV6 and Epstein-Barr virus. Genetic analyses revealed a mutation in the gene coding for desmin. The fourth case illustrated a channelopathy and a PVB19/HHV6 coinfection. Our four cases illustrate the highly probable deleterious role of cardiotropic viruses in the occurrence of SCD in subjects with genetic cardiomyopathies. We discuss the pathogenetic link between viral myocarditis and genetic cardiomyopathy. Molecular autopsy is essential in prevention of these SCD, and a close collaboration between cardiologists, pathologists, microbiologists and geneticians is mandatory.
Topics: Humans; Myocarditis; Death, Sudden, Cardiac; Autopsy; Male; Adult; Female; Herpesvirus 6, Human; Parvovirus B19, Human; Cardiomyopathy, Dilated; Roseolovirus Infections; Cardiomyopathy, Hypertrophic; Parvoviridae Infections; Young Adult; Genetic Predisposition to Disease; Fatal Outcome; Epstein-Barr Virus Infections; Herpesvirus 4, Human; Coinfection; Cause of Death; Mutation; Middle Aged
PubMed: 38811883
DOI: 10.1186/s12872-024-03913-z -
Surgical Case Reports May 2024Glomus tumors (GT) generally occur in the skin. However, esophageal GT, an extremely rare condition, has no established standardized treatment guidelines. Herein, we...
BACKGROUND
Glomus tumors (GT) generally occur in the skin. However, esophageal GT, an extremely rare condition, has no established standardized treatment guidelines. Herein, we report the case of an esophageal GT successfully removed by thoracoscopic enucleation in the prone position using intra-esophageal balloon compression.
CASE PRESENTATION
A 45-year-old man underwent an annual endoscopic examination and was found to have a submucosal tumor in the lower esophagus. Endoscopic ultrasound (EUS) revealed a hyperechoic mass originating from the muscular layer. Contrast-enhanced computed tomography identified a 2 cm mass lesion with high contrast enhancement in the right side of the lower esophagus. Pathologic findings of EUS-guided fine needle aspiration biopsy (EUS-FNA) revealed round to spindle shaped atypical cells without mitotic activity. Immunohistochemically, the tumor was positive for alpha-smooth muscle actin, but negative for CD34, desmin, keratin 18, S-100 protein, melan A, c-kit, and STAT6. He was diagnosed with an esophageal GT and a thoracoscopic approach to tumor resection was planned. Under general anesthesia, a Sengstaken-Blakemore (SB) tube was inserted into the esophagus. The patient was placed in the prone position and a right thoracoscopic approach was achieved. The esophagus around the tumor was mobilized and the SB tube balloon inflated to compress the tumor toward the thoracic cavity. The muscle layer was divided and the tumor was successfully enucleated without mucosal penetration. Oral intake was initiated on postoperative day (POD) 3 and the patient discharged on POD 9. No surgical complications or tumor metastasis were observed during the 1-year postoperative follow-up.
CONCLUSIONS
As malignancy criteria for esophageal GT are not yet established, the least invasive procedure for complete resection should be selected on a case-by-case basis. Thoracoscopic enucleation in the prone position using intra-esophageal balloon compression is useful to treat esophageal GT on the right side of the esophagus.
PubMed: 38805072
DOI: 10.1186/s40792-024-01934-6 -
Journal of Oral and Maxillofacial... 2024Undifferentiated pleomorphic sarcoma (UPS) is a rare entity found in the oral cavity which involves the mandible in only 3% of all UPS bone lesions. The correlation of...
Undifferentiated pleomorphic sarcoma (UPS) is a rare entity found in the oral cavity which involves the mandible in only 3% of all UPS bone lesions. The correlation of the clinical presentation of the neoplasm with the histopathological and immunohistochemistry findings is very important for appropriate diagnosis. Its incidence in membranous bone like mandible is rare. According to our literature search in the PubMed database, there are only four reported cases from India some of which does not have any immunohistochemistry findings to confirm the diagnosis. We present a rare case of UPS of mandible which was clinically mimicking squamous cell carcinoma. Upon immunohistochemical analysis, we found vimentin, KI67, CD68 positive and desmin, Melan A, LCA, S100 and myogenin negative, which lead us to the diagnosis of UPS.
PubMed: 38800448
DOI: 10.4103/jomfp.jomfp_142_23 -
Cureus Apr 2024This case reports a 35-year-old man who presented with a painful erythematous nodule on his right posterior calf. He first noticed this nodule several years ago and it...
This case reports a 35-year-old man who presented with a painful erythematous nodule on his right posterior calf. He first noticed this nodule several years ago and it often bled upon contact with clothing. An excisional biopsy of the skin lesion revealed two distinct populations of cells. One population of epithelioid cells stained positive for Mart-1, HMB45, and SOX-10, confirming the diagnosis of malignant melanoma. The second population of cells stained positive for desmin and calponin, confirming the diagnosis of sarcoma with muscular differentiation. Subsequently, these unusual findings led to the diagnosis of a collision tumor comprising malignant melanoma and rhabdomyosarcoma. Follow-up PET/CT and brain MRI revealed no metastasis from the primary skin lesion. This case highlights a rare combination of cell types found within a collision tumor in addition to providing details on how to diagnose this skin lesion.
PubMed: 38800207
DOI: 10.7759/cureus.58910 -
Tislelizumab combined with GT chemotherapy for intimal sarcoma of inferior vena cava: A case report.Medicine May 2024Intimal sarcoma of inferior vena cava (IVC) is a rare soft tissue sarcoma with no typical symptoms and specific imaging features in the early stage, and there is a lack...
RATIONALE
Intimal sarcoma of inferior vena cava (IVC) is a rare soft tissue sarcoma with no typical symptoms and specific imaging features in the early stage, and there is a lack of standardized treatment and methods.
PATIENT CONCERNS
A 54-year-old female patient presented to Fenghua District People's Hospital with a post-active cough and hemoptysis and was subsequently referred to our hospital.
DIAGNOSES
The patient was pathologically diagnosed as intimal sarcoma of IVC complicating multiple intrapulmonary metastases. Chest CT revealed left lung malignant tumor with multiple intrapulmonary metastases; while enhanced upper abdominal CT showed cancer embolus of IVC with extension to right atrium and bilateral renal veins. Besides, hematoxylin and eosin staining suggested intimal sarcoma of veins. Immunohistochemical staining showed positivity for PD-L1, Ki-67, CD31, Desmin and ERG.
INTERVENTIONS
The patient initially received GT chemotherapy (gemcitabine injection + docetaxel). Then, immunotherapy (tislelizumab) was added based on the results of genetic testing (TP53 gene mutation).
OUTCOMES
The disease was stabilized after receiving the treatment.
LESSONS
Given the lack of characteristic clinical manifestations in patients with intimal sarcoma of IVC, imaging examination combined with immunohistochemical index were helpful for diagnosis of intimal sarcoma of IVC. Furthermore, the combination of tislelizumab and GT chemotherapy was feasible in such patients with positive PD-L1 expression and TP53 mutation.
Topics: Humans; Female; Middle Aged; Vena Cava, Inferior; Sarcoma; Antibodies, Monoclonal, Humanized; Vascular Neoplasms; Antineoplastic Combined Chemotherapy Protocols; Gemcitabine; Deoxycytidine; Lung Neoplasms
PubMed: 38788046
DOI: 10.1097/MD.0000000000038056 -
Radiology Case Reports Aug 2024A 44-year-old woman was referred to our hospital for the examination and treatment of a presumed gallbladder tumor. Both ultrasound and computed tomography showed an...
A 44-year-old woman was referred to our hospital for the examination and treatment of a presumed gallbladder tumor. Both ultrasound and computed tomography showed an intracystic tumor but failed to point out the discontinuity between the cystic lesion and the gallbladder. Magnetic resonance imaging, however, could clearly depict the presumed intracystic tumor and the discontinuity between the gallbladder and the target lesion. Both contents of the gallbladder and the cystic lesion showed hypo and hyper intense patterns, though both with slightly different intensities, on T1- and T2-weighted images, respectively. Under the preoperative diagnosis of early gallbladder cancer despite these image findings, laparoscopic cholecystectomy was attempted to the patient. Laparoscopic observation, however, revealed that the target lesion was not continuous with the gallbladder and was located in the round ligament of the liver. Intraoperative findings led us to do cholecystectomy and resection of the adjacent cystic tumor. The intracystic tumor was 3 cm in size and had minute solid component inside the cyst wall. Pathological study of the presumed gallbladder cancer showed epithelioid cells and spindle cells growing in sheet like and storiform fashions, respectively. Cystic walls mainly consisted of hypo cellular fibrous components. Immunohistochemical staining of the tumor was positive for CD117 and negative both for desmin and S100, leading to the diagnosis of gastrointestinal stromal tumor. MIB-1 labelling index of the gastrointestinal stromal tumor was 8%. The patient recovered uneventfully and has been well without any recurrences for 3 months.
PubMed: 38779196
DOI: 10.1016/j.radcr.2024.04.067 -
International Journal of Surgery Case... May 2024Primary thyroid leiomyosarcoma is an extremely rare soft tissue sarcoma, characterized by high malignancy and poor prognosis. Currently, only 13 cases of primary thyroid...
INTRODUCTION
Primary thyroid leiomyosarcoma is an extremely rare soft tissue sarcoma, characterized by high malignancy and poor prognosis. Currently, only 13 cases of primary thyroid leiomyosarcoma have been described in the medical literature (limited to English).
CASE PRESENTATION
A 76-year-old female presented with a giant neck mass. Physical examination revealed a large, firm mass in the left thyroid gland. No symptoms such as hoarseness or dysphagia were noted at the time of presentation. The patient underwent unilateral thyroidectomy and cervical lymph node dissection.
CLINICAL DISCUSSION
Pathologic findings revealed a low-grade sarcoma with spindle-shaped tumor cells in an interwoven, sheet-like distribution. Immunohistochemistry showed positivity for desmin, SMMHC, STAT6, CK19, and Galectin3, but negativity for S-100, MyoD1, CD34, CK (AE1/AE3), CD117, and CD56. The findings were consistent with thyroid leiomyosarcoma.
CONCLUSION
The treatment of primary thyroid LMS presents challenges due to its atypical symptoms and high malignance, highlighting the imperative for further exploration of therapeutic strategies to improve the outcomes.
PubMed: 38772244
DOI: 10.1016/j.ijscr.2024.109773 -
European Journal of Obstetrics,... May 2024Aggressive angiomyxoma is an uncommon mesenchymal neoplasm characterized by a high recurrence rate, usually observed in the lower genital tract of women during their...
OBJECTIVE
Aggressive angiomyxoma is an uncommon mesenchymal neoplasm characterized by a high recurrence rate, usually observed in the lower genital tract of women during their reproductive age.
STUDY DESIGN
Seventeen cases of aggressive angiomyxoma confirmed by pathology from January 2007 to December 2021 in Beijing Chao-yang Hospital were included. We collected clinical data and summarized the clinical and immunohistochemical features.
RESULTS
All seventeen included patients were females, aged between 23 and 57 years (mean, 37.7 years; median, 42 years). Fourteen patients were newly diagnosed and three were recurrent. The tumors were located in vulva (58.8 %), vagina (23.5 %), buttock (11.8 %), and cervix (5.9 %). The tumors size were 2 to 15 cm in greatest dimension (mean 8 ± 4.4 cm, median 6 cm). Follow-up data was available for nine patients, which ranged from 25 to 124 months (mean, 82 months; median, 80 months). At the end of follow-up, no other recurrence or metastasis was reported. Immunohistochemical analysis showed immunoreactive for estrogen (10/11) and progesterone (8/11) receptor, desmin (6/8), smooth muscle actin (4/10), and vimentin (4/4), S-100 (1/8) and CD34 (1/7). The Ki67 level was less than 5 % in five cases.
CONCLUSIONS
AAM is a hormone-sensitive, distinct rare mesenchymal neoplasm with high incidence of local recurrence. Surgery is the preferred treatment, with complete resection being an essential prerequisite for minimizing the risk of recurrence.
PubMed: 38762952
DOI: 10.1016/j.ejogrb.2024.05.012 -
Experimental and Therapeutic Medicine Jun 2024Ossifying fibromyxoid tumor (OFMT) of the soft parts is a mesenchymal neoplasm of uncertain lineage. Fibromyxoid matrix and peripheral metaplastic bone are common...
Ossifying fibromyxoid tumor (OFMT) of the soft parts is a mesenchymal neoplasm of uncertain lineage. Fibromyxoid matrix and peripheral metaplastic bone are common histological features of this type of tumor. In the present study, a case of OFMT in a 33-year-old female was reported. The patient was referred to the First Affiliated Hospital of China Medical University (Shenyan, China) in January 2018. The patient had developed a mass in the left upper arm 6 months prior to presentation, which was slowly enlarging. The tumor was 1.5 cm in diameter, with hard texture. Histologically, the tumor showed a clear boundary with no invasion into the adjacent tissue. The majority of tumor cells were round and medium-sized, with abundant pale cytoplasm, without obvious atypia and densely arranged in sheets. The tumor tissue was characterized by cartilage-like morphology and fibromyxoid and hyalinization matrix. Mitotic index was <1/10 high-power fields. Additionally, tumor cells were positive for S-100 and vimentin expression, but negative for smooth muscle actin, CD34, cytokeratin, desmin, human melanoma black 45 and melanoma A. Ki67 index was ~1%. The patient underwent surgery and the tumor was totally removed. No recurrence was observed at the final 6-year follow-up. Based on the aforementioned findings, the patient was diagnosed as typical OFMT. Slow growth and clear boundaries often suggest an indolent nature to this type of tumor. However, close follow-up should be performed due to its malignant potential.
PubMed: 38756906
DOI: 10.3892/etm.2024.12549 -
Journal of Medical Case Reports May 2024The greater omentum comprises peritoneal, adipose, vascular, and lymphoid tissues. Most omental malignancies are metastatic tumors, and the incidence of primary tumors...
BACKGROUND
The greater omentum comprises peritoneal, adipose, vascular, and lymphoid tissues. Most omental malignancies are metastatic tumors, and the incidence of primary tumors is rare. We report on a prior omental smooth muscle tumor case in an adult male patient.
CASE PRESENTATION
A 54-year-old Japanese male patient with no relevant medical history was diagnosed with an abdominal mass during a routine medical checkup. Subsequent contrast-enhanced computed tomography revealed a mass of approximately 3 cm in size in the greater omentum, and a laparotomy was performed. A 27 × 25 × 20 mm raised lesion was found in the omentum. Microscopically, spindle cells were observed and arranged in whorls and fascicles. Individual tumor cells had short spindle-shaped nuclei with slightly increased chromatin and were characterized by a slightly eosinophilic, spindle-shaped cytoplasm. The mitotic count was less than 1 per 50 high-power fields. The tumor cells showed positive immunoreactivity for α smooth muscle actin, HHF35, and desmin on immunohistochemical examination. The Ki-67 labeling index using the average method was 1.76% (261/14806). No immunoreactivity was observed for any of the other tested markers. We considered leiomyoma owing to a lack of malignant findings. However, primary omental leiomyoma has rarely been reported, and it can be difficult to completely rule out the malignant potential of smooth muscle tumors in soft tissues. Our patient was decisively diagnosed with a primary omental smooth muscle tumor considering leiomyoma. Consequently, the patient did not undergo additional adjuvant therapy and was followed up. The patient was satisfied with treatment and showed neither recurrence nor metastasis at the 13-month postoperative follow-up.
DISCUSSION AND CONCLUSION
We encountered a primary smooth muscle tumor of the greater omentum with no histological findings suggestive of malignancy in an adult male patient. However, omental smooth muscle tumors are extremely difficult to define as benign, requiring careful diagnosis. Further case reports with long-term follow-up and case series are required to determine whether a true omental benign smooth muscle tumor (leiomyoma) exists. In addition, proper interpretation of the Ki-67 labeling index should be established. This case study is a foundation for future research.
Topics: Humans; Male; Omentum; Middle Aged; Leiomyoma; Smooth Muscle Tumor; Peritoneal Neoplasms; Tomography, X-Ray Computed; Diagnosis, Differential
PubMed: 38704583
DOI: 10.1186/s13256-024-04537-9