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International Journal of Surgery Case... Jun 2024A solitary infantile myofibroma tumor arises as a hard, painless cutaneous or subcutaneous nodule and is defined as an uncommon soft tissue neoplasm that is usually seen...
INTRODUCTION
A solitary infantile myofibroma tumor arises as a hard, painless cutaneous or subcutaneous nodule and is defined as an uncommon soft tissue neoplasm that is usually seen in childhood.
CASE PRESENTATION
A nine-month-old female infant presented with a solid mass that appeared one month ago. The mass gradually increased in size within the right posterior triangle of the neck, without any local or systemic accompanying symptoms. Laboratory tests were normal. Ultrasonography revealed a homogeneous tissue mass measuring 1.5 × 3 cm, with blood flow within it. Multislice CT scan accurately localized the isolated tumor. The mass was surgically excised and found within the sternocleidomastoid muscle, without any adhesions to adjacent tissues. Histological examination of the tumor and immunohistochemical tests confirmed infantile myofibroma.
CLINICAL DISCUSSION
IM is one of the most common soft tissue tumors in children and mainly consists of myofibroblasts. 90 % of IM cases are diagnosed before the age of two years. Possible therapeutic measures for this tumor include conservative management, surgical resection, chemotherapy, radiation therapy, and steroid injections into the tumor. Surgical removal of the tumor is often performed, and if it is single and completely removed, the prognosis is good with a recurrence rate of less than 10 %.
CONCLUSION
Infantile myofibroma is considered a benign tumor, but it may be fatal in some cases. Each case is treated individually according to the number (single or multicentric), size, location, symptoms, and visceral involvement. Surgical resection remains the therapeutic procedure of choice in most cases.
PubMed: 38788637
DOI: 10.1016/j.ijscr.2024.109797 -
DEN Open Apr 2025Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor. Some papers have reported that colonoscopy could be used to treat PEComa with a predominantly...
Perivascular epithelioid cell tumor (PEComa) is a rare mesenchymal tumor. Some papers have reported that colonoscopy could be used to treat PEComa with a predominantly pedunculated polyp, whereas surgical intervention is often required for cases with submucosal-type tumors. These findings suggest that the morphology of PEComa changes dramatically with disease progression. Because of the rapid progression of PEComa, endoscopic treatment remains challenging, and early-stage PEComa morphology is not well understood. A 64-year-old man presented to our hospital for a follow-up colonoscopy after undergoing multiple polypectomies. He had a medical history of colorectal adenoma and prostate cancer. A 4-mm pale blue elevated but not pedunculated lesion was observed in the transverse colon, an area where he had not had polyps previously. Since no epithelial change was observed, the presence of a submucosal tumor, such as a gastrointestinal stromal tumor, was suspected. Cold snare polypectomy was performed, and the lesion was completely resected. Histological evaluation using hematoxylin and eosin staining identified that the submucosal tumor included thickened vascular walls and adipose tissue. Although fragmented due to significant degeneration, spindle-shaped cells staining positive for smooth muscle actin were observed within and surrounding the unstructured hyalinized tissue with calcifications. Based on these findings, the lesion was diagnosed as angiomyolipoma, a subtype of PEComa. Complete resection was confirmed by histopathology. To our knowledge, this PEComa is the smallest of any PEComa reported in the literature. Our finding provides valuable insights into the very early stage of colorectal PEComas.
PubMed: 38774472
DOI: 10.1002/deo2.390 -
The World Journal of Men's Health Apr 2024Precise control of proliferation and differentiation of Leydig cells is important for gonadal androgenesis and spermatogenesis. Though cyclin-dependent kinase inhibitors...
PURPOSE
Precise control of proliferation and differentiation of Leydig cells is important for gonadal androgenesis and spermatogenesis. Though cyclin-dependent kinase inhibitors are crucial for cell proliferation and differentiation, their role in the development of early adult Leydig cells (ALCs) remained unanswered. To understand mechanism for ALC development, functional expression of p57KIP2 (cdkn1c) was investigated in the stem Leydig cells (SLCs) and progenitor Leydig cells (PLCs) in mice.
MATERIALS AND METHODS
The roles of p57KIP2 in the proliferation, differentiation, apoptosis, and steroidogenesis in SLCs and PLCs were investigated by antibodies and bromodeoxyuridine (BrdU) labeling in the early neonatal testes and siRNA in the isolated SLCs and PLCs. Steroidogenic differentiation of PLCs was examined by progesterone and testosterone production in cell culture.
RESULTS
From postnatal day (PND) 1 to 14, p57KIP2(+) spindle-shaped cells in the testis interstitium were α-smooth muscle actin (αSMA)(-), a peritubular myoid cells marker, suggesting that they are SLCs and PLCs. Besides, p57KIP2 was also expressed in HSD3β(+) fetal Leydig cells. From PND1 to 14, BrdU(+)/αSMA(-), Ki67(+)/p57KIP2(+), and BrdU(+)/p57KIP2(+) spindle-shaped cells were gradually decreased. From PND1 to 14, p57KIP in the αSMA(-)/p57KIP2(+) cells was peaked at PND7 and decreased thereafter. In THY1(+) isolated SLCs, siRNA significantly increased and mRNA and mRNA, a differentiation marker and decreased mRNA, a SLC marker. No significant difference in apoptosis related genes mRNA was found after siRNA treatment. In HSD3β(+) PLCs, siRNA increased proapoptotic genes mRNA, annexin V(+) early-apoptotic cells. Importantly, siRNA significantly decreased and mRNA and progesterone production.
CONCLUSIONS
p57KIP2 may suppress proliferation and support stemness of SLCs. In PLCs, p57KIP2 may suppress apoptosis and potentiate the steroidogenic differentiation.
PubMed: 38772531
DOI: 10.5534/wjmh.230299 -
International Journal of Surgery Case... Jun 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 -
Annals of Anatomy = Anatomischer... May 2024Voice production has been an area of interest in science since ancient times, and although advancing research has improved our understanding of the anatomy and function...
Voice production has been an area of interest in science since ancient times, and although advancing research has improved our understanding of the anatomy and function of the larynx, there is still little general consensus on these two topics. This review aims to outline the main developments in this field and highlight the areas where further research is needed. The most important hypotheses are presented and discussed highlighting the four main lines of research in the anatomy of the human larynx and their most important findings: (1) the arrangement of the muscle fibers of the thyroarytenoid muscle is not parallel to the vocal folds in the internal part (vocalis muscle), leading to altered properties during contraction; (2) the histological structure of the human vocal cords differs from other striated muscles; (3) there is a specialized type of heavy myosin chains in the larynx; and (4) the neuromuscular system of the larynx has specific structures that form the basis of an intrinsic laryngeal nervous system. These approaches are discussed in the context of current physiological models of vocal fold vibration, and new avenues of investigation are proposed.
PubMed: 38763330
DOI: 10.1016/j.aanat.2024.152283 -
Indian Journal of Pathology &... May 2024Leiomyosarcoma of the esophagus is a very rare disease, accounting for less than 0.5% of malignant esophageal tumors. Esophageal leiomyosarcoma combined with squamous...
Leiomyosarcoma of the esophagus is a very rare disease, accounting for less than 0.5% of malignant esophageal tumors. Esophageal leiomyosarcoma combined with squamous cell carcinoma is even rarer than solitary leiomyosarcoma. To our knowledge, there are less than ten cases of simultaneously diagnosed leiomyosarcoma and squamous cell carcinoma of the esophagus. A 66-year-old male was admitted to our hospital suffering from epigastric pain, asthenia, weight loss, and difficulties when feeding with solid food which had been present for 2 weeks. A computed tomography scan showed a large tumor tissue mass in the mid-to-distal part of the esophagus. The patient underwent robot-assisted surgery-an esophagectomy with esophagogastrostomy. Histologically, the tumor consisted of highly pleomorphic spindle cells with multiple atypical mitosis and necrotic areas. An immunohistochemical examination was performed to distinguish leiomyosarcoma from spindle cell squamous carcinoma or malignant GIST. Tumor cells stained diffusely positive for smooth muscle actin, but negative for p63, CD117, and CKAE1/AE3. Tumor invasion involved mucosa and submucosa, without tunica muscularis propria. Microinvasive well-differentiated squamous cell carcinoma was also noted in the mucosa at the borders between the tumor and the healthy part of the esophagus. The aim of the manuscript is to present an extremely rare case of combined polypoid leiomyosarcoma and microinvasive squamous cell carcinoma of the esophagus, cured by robot-assisted surgical intervention and to emphasize that such cases should be examined carefully, including additional diagnostic tests such as Immunohistochemistry (IHC) in order to define the correct diagnosis.
PubMed: 38727414
DOI: 10.4103/ijpm.ijpm_383_23 -
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 -
Thoracic Cancer Jun 2024Solitary pulmonary papillomas (SPPs) are rare lung neoplasms. Histologically, SPP is classified into three subtypes, and mixed squamous and glandular papilloma (MP) is...
Solitary pulmonary papillomas (SPPs) are rare lung neoplasms. Histologically, SPP is classified into three subtypes, and mixed squamous and glandular papilloma (MP) is the rarest subtype. Although SPPs are considered benign tumors, there have been several reports on the synchronous malignant transformation in SPPs. An 82-year-old asymptomatic man was referred to our hospital for further examination of a 2.2 cm-sized left lung tumor. Pathology of bronchoscopic specimens showed the possibility of pulmonary papilloma but did not reveal any malignancy. The patient complained of bloody sputum during the eighth month after the initial visit. The size of the lesion had increased to 4.3 cm. These data suggested the existence of malignancy, and the patient underwent an operation. Histologically, the tumor was composed of fibrovascular cores and papillomatous fronds lined by pseudostratified columnar cells and mucin-filled goblet cells. Keratinizing squamous epithelium was also observed. Overall, the diagnosis of MP was obtained by fundamental histology. In addition, a solid part beneath mild atypical squamous epithelia, which was composed of malignant-appearing squamous cells and spindle-shaped atypical cells, was observed. The spindle portion was positive for cytokeratin AE1/AE3 and vimentin, and focally positive for alpha-smooth muscle actin (αSMA). The final diagnosis was pulmonary pleomorphic carcinoma (PPC) arising in the MP. Only two cases have been reported for atypical spindle tumor cells that are found in MP or bronchiolar adenoma/ciliated muconodular papillary tumor (BA/CMPT), which has histologically similar features to MP. This is the second case report of PPC arising in MP.
Topics: Humans; Male; Papilloma; Lung Neoplasms; Aged, 80 and over; Carcinoma, Squamous Cell
PubMed: 38690654
DOI: 10.1111/1759-7714.15322 -
Clinical Case Reports May 2024Giant cell tumor of bone (GCT) is a rare neoplasm which often presents as a lytic lesion in the epiphyseal region of long bones and which are usually accompanied by...
KEY CLINICAL MESSAGE
Giant cell tumor of bone (GCT) is a rare neoplasm which often presents as a lytic lesion in the epiphyseal region of long bones and which are usually accompanied by pain, swelling, and restricted movement.
ABSTRACT
Giant cell tumor of bone (GCT) is a rare neoplasm that affects individuals in their third and fourth decades of life. Clinically, it often presents as a lytic lesion in the epiphyseal region of bones, notably the distal femur and proximal tibia. Radiologically, GCT appears as a distinct lytic lesion in the epiphyseal region. Histopathologically, GCTs are composed of mononuclear cells, macrophages, and multinuclear giant cells, indicative of osteoclastogenic stromal tumors. A 37-year-old man presented with left wrist pain, swelling, and restricted movement persisting for a year, worsening over the last 7 months. Radiographic assessments revealed a distal radius bone mass involving the radiocarpal joint. Biopsy confirmed a GCT with extension into peripheral muscle. PET/CT scan showed localized pathology without metastasis. Histopathologically, GCT exhibited multinucleated giant cells, spindle cells, and aneurysmal bone cyst-like regions with coagulation necrosis. Surgical resection involved en-bloc removal and reconstruction with a non-vascularized radius bone graft. Postoperatively, the patient showed no complications at the one-year follow-up, suggesting successful intervention.
PubMed: 38681027
DOI: 10.1002/ccr3.8830 -
Genes Mar 2024Rare sarcomas present significant treatment challenges compared to more prevalent soft tissue sarcomas due to limited treatment options and a poor understanding of their...
Rare sarcomas present significant treatment challenges compared to more prevalent soft tissue sarcomas due to limited treatment options and a poor understanding of their biology. This study investigates a unique case of penile sarcoma, providing a comprehensive morphological and molecular analysis. Through the creation of experimental patient-derived models-including patient-derived xenograft (PDX), 3D, and monolayer primary cultures-we successfully replicated crucial molecular traits observed in the patient's tumor, such as smooth muscle actin and CD99 expression, along with specific mutations in genes like and . These models are helpful in assessing the potential for an in-depth exploration of this tumor's biology. This comprehensive approach holds promise in identifying potential therapeutic avenues for managing this exceedingly rare soft tissue sarcoma.
Topics: Animals; Humans; Male; Mice; Mutation; Penile Neoplasms; Sarcoma; Tuberous Sclerosis Complex 2 Protein; Middle Aged
PubMed: 38674359
DOI: 10.3390/genes15040424