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International Journal of Surgical... Jun 2024The occurrence of fumarate hydratase-deficient leiomyoma of the abdominal wall is exceptionally rare. A 50-year-old female patient with a past medical history of...
Fumarate Hydratase-Deficient Abdominal Wall Leiomyoma Presenting a Decade Post-Fumarate Hydratase-Deficient Uterine Leiomyoma Excision: An Incidental or Syndromic Association?
The occurrence of fumarate hydratase-deficient leiomyoma of the abdominal wall is exceptionally rare. A 50-year-old female patient with a past medical history of fumarate hydratase-deficient uterine leiomyoma presented with a left lower quadrant abdominal mass that has been present for the past 2 years. An ultrasound revealed a 3.5 cm oval hypoechoic mass. A subsequent CT scan showed a 3.5 cm hyperdense mass within the left internal oblique musculature. No family history is noted. A biopsy of the mass exhibited bundles of spindle cell neoplasm exhibiting bizarre ovoid nuclei and eosinophilic cytoplasm. No evidence of mitotic figures or tumor necrosis was noted. Immunohistochemical staining showed positive staining for desmin and smooth muscle actin (SMA), but negative staining for MART-1, S100, and CD34. Lesional cells showed expression of 2-succinocysteine and loss of fumarate hydratase expression. A diagnosis of fumarate hydratase-deficient leiomyoma was rendered. This report reinforces the importance of considering genetic testing for fumarate hydratase mutations in the evaluation of extra-uterine leiomyomatous lesions. Comprehensive follow-up and clinical screening in individuals with new lesions and a known history of fumarate hydratase-deficient neoplasms is mandatory. Recent recommendations support the integration of morphology-based evaluation along with immunohistochemical staining and genetic testing as a part of the standard evaluation for all uterine leiomyomas.
PubMed: 38847132
DOI: 10.1177/10668969241256118 -
Cureus May 2024Solitary fibrous tumor (SFT) is a rare type of tumor characterized by spindle-shaped cells originating from mesenchymal tissue. This case series presents a collection of...
Solitary fibrous tumor (SFT) is a rare type of tumor characterized by spindle-shaped cells originating from mesenchymal tissue. This case series presents a collection of 14 intracranial solitary fibrous tumors treated between 2014 and 2022 in our institute in Bucharest, Romania. Through a systematic investigation, key aspects spanning the preoperative, intraoperative, and postoperative phases of patient care were highlighted. Our study examines various factors including tumor location (which was very heterogeneous), size (median of 49 mm, ranging between 22 mm and 70 mm), surgical techniques employed, and recurrence rates. The data was analyzed using Python version 3.10 (Python Software Foundation, Wilmington, Delaware, United States). Gender disparities in SFT were noted, particularly the male-to-female ratio which was 5:9. The use of the Medical Research Council (MRC) Scale for Muscle Strength aided in evaluating severity and postoperative outcomes. GTR was achieved in nine out of 14 cases (64.28%), prolonging the period of recurrence-free survival.
PubMed: 38846236
DOI: 10.7759/cureus.59798 -
Cureus May 2024Gastric leiomyomas are benign, submucosal tumors found incidentally on unrelated imaging or during autopsy. The majority of leiomyomas are asymptomatic; however,...
Gastric leiomyomas are benign, submucosal tumors found incidentally on unrelated imaging or during autopsy. The majority of leiomyomas are asymptomatic; however, patients can develop central ulcerations on the lesions leading to upper gastrointestinal (GI) bleeding. A 75-year-old female, with a past medical history of hypertension, hyperlipidemia, and a cerebrovascular accident, presented with complaints of melena, near-syncope events, lightheadedness, weakness, and hematemesis. A computed tomography (CT) of the abdomen with contrast found a heterogeneous low-attenuation mass of 4×4×3 cm within the gastric fundus and near the gastroesophageal (GE) junction. After an open gastrostomy and excisional biopsy, the mass was identified as a leiomyoma. This case report reviews the presentation, diagnostic assessments, and treatment of a gastric leiomyoma in a complex location proximal to the gastroesophageal junction. Gastric leiomyomas should be considered as a differential diagnosis for patients presenting with an upper gastrointestinal bleed.
PubMed: 38846219
DOI: 10.7759/cureus.59810 -
Frontiers in Neuroanatomy 2024The overall distribution pattern of intramuscular nerves and the regions with the highest spindle abundance in deep cervical muscles have not been revealed. This study...
Division of neuromuscular compartments and localization of the center of the highest region of muscle spindles abundance in deep cervical muscles based on Sihler's staining.
PURPOSE
The overall distribution pattern of intramuscular nerves and the regions with the highest spindle abundance in deep cervical muscles have not been revealed. This study aimed to reveal neuromuscular compartmentalization and localize the body surface position and depth of the center of the region of highest muscle spindle abundance (CRHMSA) in the deep cervical muscles.
METHODS
This study included 36 adult cadavers (57.7 ± 11.5 years). The curved line joining the lowest point of the jugular notch and chin tip was designated as the longitudinal reference line (line L), and the curved line connecting the lowest point of the jugular notch and acromion was designated as the horizontal reference line (line H). Modified Sihler's staining, hematoxylin-eosin staining and computed tomography scanning were employed to determine the projection points (P) of the CRHMSAs on the anterior surfaces of the neck. The positions (P and P) of point P projected onto the H and L lines, and the depth of each CRHMSA, and puncture angle were determined using the Syngo system.
RESULTS
The scalenus posterior and longus capitis muscles were divided into two neuromuscular compartments, while the scalenus anterior and longus colli muscles were divided into three neuromuscular compartments. The scalenus medius muscle can be divided into five neuromuscular compartments. The P of the CRHMSA of the scalenus muscles (anterior, medius, and posterior), and longus capitis and longus colli muscles, were located at 36.27, 39.18, 47.31, 35.67, and 42.71% of the H line, respectively. The P positions were at 26.53, 32.65, 32.73, 68.32, and 51.15% of the L line, respectively. The depths of the CRHMSAs were 2.47 cm, 2.96 cm, 2.99 cm, 3.93 cm, and 3.17 cm, respectively, and the puncture angles were 87.13°, 85.92°, 88.21°, 58.08°, and 77.75°, respectively.
CONCLUSION
Present research suggests that the deep cervical muscles can be divided into neuromuscular compartments; we recommend the locations of these CRHMSA as the optimal target for administering botulinum toxin A injections to treat deep cervical muscle dystonia.
PubMed: 38840810
DOI: 10.3389/fnana.2024.1340468 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Jun 2024To investigate the clinicopathological, immunophenotypic and molecular genetic characteristics, and differential diagnosis of NTRK-rearranged spindle cell neoplasms...
To investigate the clinicopathological, immunophenotypic and molecular genetic characteristics, and differential diagnosis of NTRK-rearranged spindle cell neoplasms (NTRK-RSCNs) in the gastrointestinal tract. Two NTRK-RSCNs diagnosed at the Department of Pathology of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China and one case diagnosed at Zhengzhou Central Hospital, Zhengzhou, China from 2019 to 2022 were collected. The clinical data, histopathology, immunophenotypes and prognosis were analyzed. Fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS) were used to detect NTRK gene rearrangements, while relevant literature was also reviewed and discussed. Two patients were male and one was female, with the age of 17, 47 and 62 years, respectively. The tumors were located in the duodenum, ascending colon and descending colon, respectively. The tumors were protuberant masses with gray and rubbery sections. Their maximum diameter was 2.5, 5.0 and 10.0 cm, respectively. Histologically, the tumors invaded mucosa, intrinsic muscle and serosal adipose tissue. Tumor cells consisted of spindle or oval shaped cells with monotonous morphology and arranged in bundles or stripes pattern. Spindle cells were mildly to moderately atypical, with slightly eosinophilic cytoplasm and inconspicuous nucleoli. Necrosis and mitotic figures were observed in one high-grade tumor. All tumors expressed CD34, S-100 and pan-TRK in varying degrees. FISH analysis showed that NTRK1 gene was break-apart in 1 case and NTRK2 gene break-apart in 2 cases. NGS technologies showed LMNA::NTRK1 fusion in one case, STRN::NTRK2 fusion in another case. All patients recovered well after the surgery without recurrence at the end of the follow-up. NTRK-RSCN is rarely diagnosed in the gastrointestinal tract and has significant variations in morphology. It overlaps with various other mesenchymal tumors which should be considered as differential diagnoses. Be familiar with the features of histological morphology in combination with immunophenotype and molecular genetic characteristics can not only help diagnose NTRK-RSCNs, but provide therapeutic targets for clinical treatment.
Topics: Humans; Male; Female; Middle Aged; Receptor, trkA; Gastrointestinal Neoplasms; Adolescent; In Situ Hybridization, Fluorescence; Gene Rearrangement; Diagnosis, Differential; High-Throughput Nucleotide Sequencing; Receptor, trkB
PubMed: 38825906
DOI: 10.3760/cma.j.cn112151-20231020-00280 -
Frontiers in Physiology 2024This study investigated whether abnormal peak inversion spontaneous potentials (PISPs) recorded at resting myofascial trigger points (MTrPs) stem from the discharge of...
This study investigated whether abnormal peak inversion spontaneous potentials (PISPs) recorded at resting myofascial trigger points (MTrPs) stem from the discharge of muscle spindles. Forty-eight male Sprague-Dawley rats were randomly divided into six groups. Five groups underwent MTrP modeling intervention, whereas one group did not receive intervention and was duly designated as the blank control. After model construction, five rat models were randomly subjected to ramp-and-hold stretch tests, succinylcholine injection, eperisone hydrochloride injection, saline injection, and blank drug intervention. By contrast, the rats in the blank control group were subjected to ramp-and-hold stretch tests as a control. Frequencies and amplitudes of PISPs were recorded pre- and post-interventions and compared with those of the blank group. Stretch tests showed that the depolarization time and amplitude of PISPs ranged from 0.4 ms to 0.9 ms and from 80 uV to 140 μV, respectively. However, no PISPs were observed in the control rats. The frequency of PISPs in the ramp and hold phases and the first second after the hold phase was higher than that before stretching ( < 0.01). Succinylcholine and eperisone exerted excitatory and inhibitory effects on PISPs, respectively. In the group injected with 0.9% saline, no considerable differences of the PISPs were observed during the entire observation period. In conclusion, PISPs recorded at resting MTrPs are closely related to muscle spindles. The formation of MTrPs may be an important factor that regulate dysfunctional muscle spindles.
PubMed: 38808356
DOI: 10.3389/fphys.2024.1353407 -
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 -
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