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Indian Journal of Pathology &... Apr 2024Adult rhabdomyoma is an uncommon and benign striated muscle tumor consisting of striated muscular tissue. This neoplasm usually originates from cardiac muscle, and... (Review)
Review
Adult rhabdomyoma is an uncommon and benign striated muscle tumor consisting of striated muscular tissue. This neoplasm usually originates from cardiac muscle, and extracardiac rhabdomyoma is extremely rare. Herein, we report a case of adult rhabdomyoma in the lung, which has only been reported once in the 1970s. A 62-year-old woman presented to our hospital with a solid nodule on the right upper lobe. We performed tumor resection surgery and confirmed the diagnosis of adult rhabdomyoma by postoperative pathological examination. Herein, we report the clinical and pathologic characteristics of pulmonary adult rhabdomyoma (PAR) and review the literature about adult rhabdomyoma.
Topics: Humans; Rhabdomyoma; Female; Middle Aged; Lung Neoplasms; Lung; Tomography, X-Ray Computed; Immunohistochemistry
PubMed: 38391381
DOI: 10.4103/ijpm.ijpm_382_22 -
International Journal of Environmental... May 2021Cardiac rhabdomyomas (CRs) are the earliest sign of tuberous sclerosis complex (TSC). Most of them spontaneously regress after birth. However, multiple and/or large... (Review)
Review
BACKGROUND
Cardiac rhabdomyomas (CRs) are the earliest sign of tuberous sclerosis complex (TSC). Most of them spontaneously regress after birth. However, multiple and/or large tumors may result in heart failure or cardiac arrhythmia. Recently, the attempts to treat CRs with mTOR inhibitors (mTORi) have been undertaken. We reviewed the current data regarding the effectiveness and safety of mTORi in the treatment of CRs in children with TSC.
METHODS
The review was conducted according to the PRISMA guidelines. Medline, Embase, Cochrane library, and ClinicalTrial.gov databases were searched for original, full-text articles reporting the use of mTORi (everolimus or sirolimus) in the treatment of CRs in children with TSC.
RESULTS
Thirty articles describing 41 patients were identified (mostly case reports, no randomized or large cohort studies). Thirty-three children (80.5%) had symptomatic CRs and mTORi therapy resulted in clinical improvement in 30 of them (90.9%). CRs size reduction was reported in 95.1%. Some CRs regrew after mTORi withdrawal but usually without clinical symptoms recurrence. The observed side effects were mostly mild.
CONCLUSIONS
mTORi may be considered as a temporary and safe treatment for symptomatic CRs in children with TSC, especially in high-risk or inoperable tumors. However, high-quality, randomized trials are still lacking.
Topics: Child; Everolimus; Humans; Neoplasm Recurrence, Local; Rhabdomyoma; TOR Serine-Threonine Kinases; Tuberous Sclerosis
PubMed: 34062963
DOI: 10.3390/ijerph18094907 -
Annals of the Royal College of Surgeons... Jul 2017A rhabdomyomatous mesenchymal hamartoma (RMH) is a rare benign soft tissue tumour found in the face and neck region of children. A three-month-old male infant was...
A rhabdomyomatous mesenchymal hamartoma (RMH) is a rare benign soft tissue tumour found in the face and neck region of children. A three-month-old male infant was referred to our unit with a polypoid anal lesion that had been present from birth. Histopathological examination of the excised sample showed haphazard arrangement of mature striated skeletal muscle in among nerves and blood vessels, and immunohistochemistry confirmed the lesion to be a RMH. There was no evidence of recurrence during the follow-up period. This case emphasises two points: the unique histological characteristics associated with RMH and how this allows distinction from other differential diagnoses, and the consideration of RMH as a diagnosis in perianal lesions.
Topics: Anus Neoplasms; Hamartoma; Humans; Infant; Male; Rhabdomyoma
PubMed: 28660814
DOI: 10.1308/rcsann.2017.0115 -
Frontiers in Bioscience (Landmark... Oct 2021: The coronavirus disease 2019 pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has infected more than 210 million individuals...
: The coronavirus disease 2019 pandemic, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has infected more than 210 million individuals globally and resulted in over 4 million deaths since the first report in December 2019. The early use of traditional Chinese medicine (TCM) for light and ordinary patients, can rapidly improve symptoms, shorten hospitalization days and reduce severe cases transformed from light and normal. Many TCM formulas and products have a wide application in treating infectious and non-infectious diseases. Sieb. et Zucc. (), is an important Traditional Chinese Medicine with actions of clearing away heat and eliminating dampness, draining the gallbladder to relieve jaundice, removing blood stasis to alleviate pain, resolving phlegm and arrest cough. In the search for anti-SARS-CoV-2, was recommended as as a therapeutic drug of COVID-19 pneumonia.In this study, we aimed to identifies is the potential broad-spectrum inhibitor for the treatment of coronaviruses infections. : In the present study , we infected human malignant embryonal rhabdomyoma (RD) cells with the OC43 strain of the coronavirus, which represent an alternative model for SARS-CoV-2 and then employed the cell viability assay kit for the antiviral activity. We combined computer aided virtual screening to predicte the binding site and employed Surface plasmon resonance analysis (SPR) to comfirm the interaction between drugs and coronavirus. We employed fluorescence resonance energy transfer technology to identify drug's inhibition in the proteolytic activity of 3CLpro and Plpro. : Based on our results, polydatin and resveratrol derived from P. cuspidatum significantly suppressed HCoV-OC43 replication. 50% inhibitory concentration (IC) values of polydatin inhibited SARS-CoV-2 Mpro and Plpro, MERS Mpro and Plpro were 18.66, 125, 14.6 and 25.42 μm, respectively. IC values of resveratrol inhibited SARS-CoV-2 Mpro and Plpro, MERS Mpro and Plpro were 29.81 ,60.86, 16.35 and19.04 μM, respectively. Finally, SPR assay confirmed that polydatin and resveratrol had high affinity to SARS-CoV-2, SARS-CoV 3Clpro, MERS-CoV 3Clpro and PLpro protein. : we identified the antiviral activity of flavonoids polydatin and resveratrol on RD cells. Polydatin and resveratrol were found to be specific and selective inhibitors for SARS-CoV-2, 3CLpro and PLpro, viral cysteine proteases. In summary, this study identifies as the potential broad-spectrum inhibitor for the treatment of coronaviruses infections.
Topics: Antiviral Agents; COVID-19; Cell Line, Tumor; Cell Survival; Drugs, Chinese Herbal; Fallopia japonica; Glucosides; HEK293 Cells; Host-Pathogen Interactions; Humans; Medicine, Chinese Traditional; Pandemics; Protein Binding; Resveratrol; SARS-CoV-2; Stilbenes; Surface Plasmon Resonance; Viral Proteins; Virus Replication
PubMed: 34719206
DOI: 10.52586/4988 -
AJNR. American Journal of Neuroradiology Apr 2022Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether... (Review)
Review
BACKGROUND AND PURPOSE
Most patients with tuberous sclerosis complex (TSC) do not receive prenatal diagnosis. Our aim was to describe MR imaging findings to determine the following: 1. Whether normal fetal MR imaging is more common in fetuses imaged at ≤24 weeks' gestation compared with >24 weeks 2. The frequency of cardiac rhabdomyoma 3. The range of MR imaging phenotypes in fetal tuberous sclerosis complex.
MATERIALS AND METHODS
Our institutional fetal MR imaging data base was searched between January 1, 2011 and June 30, 2021, for cases of TSC confirmed either by genetic testing, postnatal imaging, postmortem examination, or composite prenatal imaging findings and family history. A MEDLINE search was performed on June 8, 2021.
RESULTS
Forty-seven published cases and 4 of our own cases were identified. Normal findings on fetal MR imaging were seen at a lower gestational age (mean, 24.7 [SD, 4.5 ] weeks) than abnormal findings on MR imaging (mean, 30.0 [SD, 5.3] weeks) (= .008). Nine of 42 patients with abnormal MR imaging findings were ≤24 weeks' gestation. Subependymal nodules were present in 26/45 cases (57.8%), and cortical/subcortical lesions, in 17/46 (37.0%). A foramen of Monro nodule was present in 15 cases; in 2/7 cases in which this was unilateral, it was the only abnormal cerebral finding. Cardiac rhabdomyoma was absent in 3/48 cases at the time of fetal MR imaging but was discovered later. Megalencephaly or hemimegalencephaly was observed in 3 cases.
CONCLUSIONS
Fetuses with abnormal cranial MR imaging findings were older than those with negative findings. Fetal hemimegalencephaly and megalencephaly should prompt fetal echocardiography. Cardiac rhabdomyoma was not always present at the time of fetal MR imaging.
Topics: Female; Fetal Diseases; Fetus; Heart Neoplasms; Hemimegalencephaly; Humans; Magnetic Resonance Imaging; Megalencephaly; Phenotype; Pregnancy; Prenatal Diagnosis; Rhabdomyoma; Tuberous Sclerosis; Ultrasonography, Prenatal
PubMed: 35332020
DOI: 10.3174/ajnr.A7455 -
The Egyptian Heart Journal : (EHJ) :... Aug 2021The impact of early diagnosis of fetal cardiac abnormalities on the postnatal outcome has been controversial in literature. We aimed to evaluate the role of fetal...
BACKGROUND
The impact of early diagnosis of fetal cardiac abnormalities on the postnatal outcome has been controversial in literature. We aimed to evaluate the role of fetal echocardiography (FE) as a diagnostic tool for early detection and proper management of fetal cardiac abnormalities, study the indications of referral and detect the perinatal outcome in our institution.
RESULTS
This is a cross-sectional observational and descriptive study that included one hundred and one singleton pregnant women (101 fetuses) who were referred for FE over a period of one year. Indications for referral and perinatal risk factors were documented. FE and postnatal transthoracic echocardiography were done. Fetal cardiac abnormalities were detected in 46.5% of cases. Congenital heart defects (CHDs) in 34.6%, fetal arrythmias in 9.9%, cardiomyopathy in 2.9% and cardiac mass (Rhabdomyoma) in 1% (combined structural and rhythm abnormalities were observed in two fetuses). Of the CHDs, complex heart lesions were diagnosed in 57.1%, common atrioventricular canal in 28.6% and conotrunchal anomalies in 14.3%. Of the ten cases with fetal arrythmias, five fetuses had tachyarrhythmias, four had ectopics and one fetus had congenital heart block in association with maternal lupus. The indications for referral were abnormal obstetric ultrasound (52.5%), maternal medical illnesses (23.8%), multiple neonatal deaths (13.9%) and positive family history of CHD (10.9%). The number of fetuses with cardiac abnormalities was significantly higher than those without cardiac abnormalities in mothers not exposed to perinatal risk factors (p = 0.009) and was statistically lower in mothers exposed to perinatal risk factors (p = 0.005). FE showed 100% accuracy in diagnosing complex lesions, common atrio-ventricular canals, cono-truncal anomalies, cardiac masses and fetal arrhythmias. It missed two cases of tiny muscular ventricular septal defects and one case of aortic coarctation. Cases of fetal supraventricular tachycardia were successfully treated in-utero.
CONCLUSIONS
CHDs exist in fetuses with no underlying perinatal risk factors. FE can accurately diagnose most of the cardiac anomalies though few errors remain challenging (aortic coarctation). It also offers a good chance for successful early life-saving management of some types of fetal arrhythmia.
PubMed: 34410524
DOI: 10.1186/s43044-021-00196-z -
BMC Pediatrics Jun 2023To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time. (Observational Study)
Observational Study
AIM
To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time.
METHODS
In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020.
RESULTS
Cardiac rhabdomyoma was detected prenatally/neonatally in 69.2% of the subjects born during the latest ten years of the study period. Epilepsy was diagnosed in 82.7% of subjects, and 10 (19%) were treated with everolimus, mainly (80%) for a neurological indication. Renal cysts were detected in 53%, angiomyolipomas in 47%, astrocytic hamartomas in 28% of the individuals. There was a paucity of standardized follow-up of cardiac, renal, and ophthalmological manifestations and no structured transition to adult care.
CONCLUSION
Our in-depth analysis shows a clear shift towards an earlier diagnosis of tuberous sclerosis complex in the latter part of the study period, where more than 60% of cases showed evidence of this condition already in utero due to the presence of a cardiac rhabdomyoma. This allows for preventive treatment of epilepsy with vigabatrin and early intervention with everolimus for potential mitigation of other symptoms of tuberous sclerosis complex.
Topics: Adult; Child; Humans; Aged; Tuberous Sclerosis; Everolimus; Rhabdomyoma; Sweden; Early Intervention, Educational; Heart Neoplasms
PubMed: 37386496
DOI: 10.1186/s12887-023-04137-4 -
International Journal of Surgery Case... Jun 2022Rhabdomyomas are benign and rare mesenchymal tumors. They are classified into cardiac and extracardiac. However, the majority of adult subtype, which are extracardiac,...
INTRODUCTION
Rhabdomyomas are benign and rare mesenchymal tumors. They are classified into cardiac and extracardiac. However, the majority of adult subtype, which are extracardiac, tend to occur in the head and neck region.
PRESENT OF CASE
A 57-year-old man with dysphagia, dysphonia and stertor one year ago. Head and neck endoscopy was the first step to detect a smooth mass at the base of the tongue, after that CT-scan showed great lobuled mass measured 7 × 5 × 6 cm. However, complete surgical excision was done and the histopathological examination play a central role to reveal an adult-type rhabdomyoma.
DISCUSSION
the tongue base is absolutely one of the rarest sites of oral adult-type rhabdomyoma (ARM), because since 1948 to 2021 there were only four English-language articles which described ARM in the base of the tongue, anyway this type mimics malignant tumors on CT-scan because of its unclear borders and The golden diagnosis depends on histopathological examination and immunohistochemistry staining when the desmin markers are positive after that the tumor was completely excisioned as the best treatment.
CONCLUSION
Base of the tongue is a very rare location for adult-rhabdomyoma which must be considered in the differential diagnosis of head and neck lesions.
PubMed: 35661501
DOI: 10.1016/j.ijscr.2022.107239 -
Anales de Pediatria (Barcelona, Spain :... Apr 2013Rhabdomyomatous mesenchymal hamartoma is a rare congenital lesion which consists of randomly arranged striated muscle fibers interspersed with mesenchymal elements. We... (Review)
Review
Rhabdomyomatous mesenchymal hamartoma is a rare congenital lesion which consists of randomly arranged striated muscle fibers interspersed with mesenchymal elements. We describe the clinical and histopathological features of a rhabdomyomatous mesenchymal hamartoma in a one year-old patient presenting a bilobulated lesion in the mid-cervical line. No associated congenital malformations were observed.
Topics: Hamartoma; Humans; Infant; Male; Neck; Rhabdomyoma; Skin Diseases
PubMed: 23044169
DOI: 10.1016/j.anpedi.2012.08.005