Tumor nasal de músculo liso de comportamiento maligno incierto: informe de un caso / Nasal smooth muscle tumor of uncertain malignant potential: A case report

Los tumores de músculo liso que no pueden ser clasificados según su histología como leiomiomas o leiomiosarcomas se denominan tumores de músculo liso de comportamiento maligno incierto. La localización nasal de estos tumores es muy infrecuente y la extensión adecuada de la cirugía para tratar estas neoplasias no está bien definida. Se describe el caso clínico de una adolescente de 16 años, que consultó por padecer un tumor de aspecto vascular en la cavidad nasal derecha y que fue tratada con éxito mediante cirugía intranasal. El diagnóstico histológico fue tumor de músculo liso de comportamiento maligno incierto. Por la rareza de estas neoplasias, su infrecuente localización nasal y la falta de evidencia que soporte cuál debe ser la extensión de la cirugía, es relevante la descripción y discusión del caso clínico.

Smooth muscle tumors that cannot be histologically classified as leiomyomas or leiomyosarcomas are defined as smooth muscle tumors of uncertain malignant potential. The location of these tumors in the nose is very rare, and the appropriate surgical extent to manage these neoplasms has not been adequately defined. Here we describe the case of a 16-year-old female adolescent who consulted due to a vascular-like tumor in the right nasal cavity who was successfully treated with intranasal surgery. The histological diagnosis was smooth muscle tumor of uncertain malignant potential. Given that these neoplasms are rare, the uncommon location in the nose, and the lack of evidence indicating the extent of surgery, it is relevant to describe and discuss this clinical case.

FOXO3a deregulation in uterine smooth muscle tumors.

OBJECTIVE: The present study aimed to investigate FOXO3a deregulation in Uterine Smooth Muscle Tumors (USMT) and its potential association with cancer development and prognosis. METHODS: The authors analyzed gene and protein expression profiles of FOXO3a in 56 uterine Leiomyosarcomas (LMS), 119 leiomyomas (comprising conventional and unusual leiomyomas), and 20 Myometrium (MM) samples. The authors used techniques such as Immunohistochemistry (IHC), FISH/CISH, and qRT-PCR for the present analyses. Additionally, the authors conducted an in-silico analysis to understand the interaction network involving FOXO3a and its correlated genes. RESULTS: This investigation revealed distinct expression patterns of the FOXO3a gene and protein, including both normal and phosphorylated forms. Expression levels were notably elevated in LMS, and Unusual Leiomyomas (ULM) compared to conventional Leiomyomas (LM) and Myometrium (MM) samples. This upregulation was significantly associated with metastasis and Overall Survival (OS) in LMS patients. Intriguingly, FOXO3a deregulation did not seem to be influenced by EGF/HER-2 signaling, as there were minimal levels of EGF and VEGF expression detected, and HER-2 and EGFR were negative in the analyzed samples. In the examination of miRNAs, the authors observed upregulation of miR-96-5p and miR-155-5p, which are known negative regulators of FOXO3a, in LMS samples. Conversely, the tumor suppressor miR-let7c-5p was downregulated. CONCLUSIONS: In summary, the outcomes of the present study suggest that the imbalance in FOXO3a within Uterine Smooth Muscle Tumors might arise from both protein phosphorylation and miRNA activity. FOXO3a could emerge as a promising therapeutic target for individuals with Unusual Leiomyomas and Leiomyosarcomas (ULM and LMS), offering novel directions for treatment strategies.

Nasal smooth muscle tumor of uncertain malignant potential: A case report. / Tumor nasal de músculo liso de comportamiento maligno incierto: informe de un caso.

Smooth muscle tumors that cannot be histologically classified as leiomyomas or leiomyosarcomas are defined as smooth muscle tumors of uncertain malignant potential. The location of these tumors in the nose is very rare, and the appropriate surgical extent to manage these neoplasms has not been adequately defined. Here we describe the case of a 16-year-old female adolescent who consulted due to a vascular-like tumor in the right nasal cavity who was successfully treated with intranasal surgery. The histological diagnosis was smooth muscle tumor of uncertain malignant potential. Given that these neoplasms are rare, the uncommon location in the nose, and the lack of evidence indicating the extent of surgery, it is relevant to describe and discuss this clinical case.

Los tumores de músculo liso que no pueden ser clasificados según su histología como leiomiomas o leiomiosarcomas se denominan tumores de músculo liso de comportamiento maligno incierto. La localización nasal de estos tumores es muy infrecuente y la extensión adecuada de la cirugía para tratar estas neoplasias no está bien definida. Se describe el caso clínico de una adolescente de 16 años, que consultó por padecer un tumor de aspecto vascular en la cavidad nasal derecha y que fue tratada con éxito mediante cirugía intranasal. El diagnóstico histológico fue tumor de músculo liso de comportamiento maligno incierto. Por la rareza de estas neoplasias, su infrecuente localización nasal y la falta de evidencia que soporte cuál debe ser la extensión de la cirugía, es relevante la descripción y discusión del caso clínico.

Leiomyoma and Leiomyosarcoma (Primary and Metastatic) of the Oral and Maxillofacial Region: A Clinicopathological and Immunohistochemical Study of 27 Cases.

Smooth muscle neoplasms represent an important group of lesions which is rare in the oral cavity. Leiomyoma (LM) is benign smooth muscle/pericytic tumor usually presenting as non-aggressive neoplasm, while leiomyosarcoma (LMS) represents its malignant counterpart. The rarity of these lesions, together with its unspecific clinical presentation and a variable histopathological appearance, lead to a broad list of differential diagnoses, hampering their diagnoses. Therefore, in this study we describe the clinical and microscopic features of a series of oral and maxillofacial LMs and LMSs. A retrospective search from 2000 to 2019 was performed and all cases diagnosed as LM and LMS affecting the oral cavity and gnathic bones were retrieved. Clinical and demographic data were obtained from the patients' pathology records, while microscopic features and immunohistochemistry were reviewed and completed when necessary to confirm the diagnoses. Twenty-two LMs and five LMSs were obtained. In the LM group, males predominated, with a mean age of 45.7 years. The upper lip was the most affected site, and 18 cases were classified as angioleiomyomas and four as solid LM. In the LMS group, females predominated, with a mean age of 47.6 years. The mandible was the most affected site. Diffuse proliferation of spindle cells, with necrosis and mitotic figures, were frequent microscopic findings. LMs and LMSs were positive for α-smooth muscle actin, HHF-35 and h-caldesmon. In conclusion, oral LM/LMS are uncommon neoplasms with the latter usually presenting as metastatic disease. H&E evaluation may be very suggestive of oral LMs, but h-caldesmon staining is strongly recommended to confirm LMS diagnosis.

"Epstein-Barr virus associated smooth muscle tumour as an unusual cause of ureteric graft obstruction in a child".

BACKGROUND: Epstein-Barr virus (EBV) is a DNA virus with oncogenic potential, especially in immunocompromised patients. EBV can promote smooth muscle proliferation, resulting in EBV-associated smooth muscle tumors (EBV-SMT). METHODS: We report a case of a 10-year-old child with end-stage renal disease secondary to hypoplastic crossed and fused kidneys who underwent kidney transplantation. EBV serology was unknown for the donor and negative for the recipient; three months after he had a primary EBV infection. Two years after the transplantation, percutaneous nephrostomy was performed because of a drop in the estimated glomerular filtration rate and severe dilatation of the graft. Nephrography showed contrast enhancement of the pelvis of the graft kidney and proximal ureter, with a clear blockage at the level of the mid ureter and no passage towards the bladder. A 1.5-cm tumor was found causing intraluminal compression of the mid ureter. RESULTS: Complete resection of the tumor and distal ureter was performed leaving a short proximal ureter. A tension-free uretero-ureteroanastomoses was achieved using the native ureter. There were no surgical complications. Histologic evaluation showed spindle-shaped muscle cells, moderate pleomorphism, and inflammatory infiltration. Immunohistochemical staining was positive for muscle-specific actin. Epstein-Barr encoding region (EBER) in situ hybridization was positive, confirming the diagnosis of EBV-associated SMT. CONCLUSIONS: EBV-SMT is an exceedingly rare oncological entity that may develop in either the graft or any other organ. The clinical findings are location related. EBV seroconversion following transplantation might be a risk factor for the development of SMT in solid organ recipients.

Primary intracranial smooth muscle tumor associated with Epstein-Barr virus in immunosuppressed children: two cases report and review of literature.

Primary intracranial smooth muscle tumors are rare. Most cases are related to Epstein-Barr virus proliferation in immunocompromised patients such as organ solid recipients. Only a few cases have been reported in pediatric patients. The clinical features are very variable depending mainly on the location and size of the smooth muscle tumor (SMT) and the pathogenesis is poorly understood. We describe two cases of intracranial SMT localized in the temporal lobe and associated with EBV in immunosuppressed children. A review of the literature associated with intracranial leiomyomas was also done.

Cutaneous smooth muscle tumors associated with Epstein-Barr virus in an adult patient with HIV

Abstract Epstein Barr virus-associated smooth muscle tumors are an uncommon neoplasm that occurs in immunosuppressed patients of any age. Usually, it presents as multifocal tumors mainly in the spinal cord, epidural region, gastrointestinal tract and liver, upper respiratory tract and skin, the latest with few cases reported in the literature and related with human immunodeficiency virus infection and acquired immune deficiency syndrome. The authors present the first case of a Colombian adult patient with human immunodeficiency virus infection and multifocal Epstein Barr virus-associated smooth muscle tumors in the skin and epidural region, confirmed by histopathology, immunohistochemistry and in situ hybridization studies.

Cutaneous smooth muscle tumors associated with Epstein-Barr virus in an adult patient with HIV.

Epstein Barr virus-associated smooth muscle tumors are an uncommon neoplasm that occurs in immunosuppressed patients of any age. Usually, it presents as multifocal tumors mainly in the spinal cord, epidural region, gastrointestinal tract and liver, upper respiratory tract and skin, the latest with few cases reported in the literature and related with human immunodeficiency virus infection and acquired immune deficiency syndrome. The authors present the first case of a Colombian adult patient with human immunodeficiency virus infection and multifocal Epstein Barr virus-associated smooth muscle tumors in the skin and epidural region, confirmed by histopathology, immunohistochemistry and in situ hybridization studies.

Leiomiomas e leiomiosarcomas da região oral e maxilofacial: um estudo clinicopatológico e imunoistoquímico de uma série de casos / Leiomyomas and leiomyosarcomas of the oral and maxillofacial region: a clinicopathological and immunohistochemical study of 27 cases

Os tumores de músculo liso são considerados raros na cavidade oral, com a frequência de leiomioma (LM) e leiomiossarcoma (LMS) oral sendo menor que 1% do total de neoplasias nesta região. Os LMs são caracterizados clinicamente como um nódulo de crescimento lento e assintomático, sendo classificados como angioleiomioma (ALM) e LM sólido. Histologicamente, os LM sólidos apresentam-se como uma proliferação de células fusiformes com citoplasma eosinofílico, formando feixes ou fascículos entrelaçados, enquanto que os ALM são compostos por feixes de células musculares lisas bem diferenciadas em torno de vasos sanguíneos de tamanho variável. A remoção cirúrgica conservadora é o tratamento preconizado e as recorrências são extremamente raras. Já o LMS apresenta-se clinicamente como uma lesão tumoral que exibe um crescimento rápido e localmente destrutivo, exibindo histologicamente um crescimento fascicular de células neoplásicas fusiforme, com figuras de mitose, atipia celular e necrose tecidual. O tratamento mais usado é a excisão cirúrgica radical, frequentemente exibindo recidivas locais e metástases a distância. Devido à longa lista de diagnósticos diferenciais microscópicos destas neoplasias, reações de imunoistoquímica costumam ser fundamentais para o correto diagnóstico. Assim, o objetivo deste estudo foi analisar as características clínicas, histopatológicas e imunoistoquímicas de uma série de casos de LM e LMS afetando a região oral e maxilofacial. Todos os casos diagnosticados como LM e LMS no período de 2000 a 2019, foram recuperados dos arquivos de seis serviços de diagnóstico oral. As características clínicas e demográficas foram obtidas a partir dos registros patológicos dos pacientes, enquanto as características microscópicas e imunoistoquímicas foram revisadas,por pelo menos dois autores simultaneamente, ou repetidas sempre que necessário para confirmação do diagnóstico. Os anticorpos utilizados na imunoistoquimica foram: anti-α-SMA, actina músculo-específica(HHF 35), h-caldesmona e Ki67, entretanto, sempre que necessário, utilizamos S100, desmina e CD34. Foram obtidos 22 casos de LM e cinco LMS. No grupo de LM, houve predomínio do sexo masculino, com média de idade de 45,7 anos. O lábio superior foi o local mais acometido, sendo 18 casos classificados como angioleiomiomas e quatro como LM sólido.O tempo de evolução médio foi de 44.5 meses e 91% dos pacientes foram assintomáticos.Já no grupo LMS houve predomínio do sexo feminino, com média de idade de 47,6 anos. A mandíbula foi o local mais afetado.Todos os pacientes foram sintomáticos, apresentando dor, dormência do lábio inferiror e parestesia do nervo alveolar inferior, com um tempo de evolução variando entre 2-4 mêses. Proliferação difusa de células fusiformes, com necrose e figuras mitóticas, foram achados microscópicos frequentes. LM e LMS foram consistentemente positivos para α-SMA, HHF-35 e h-caldesmona. Concluimos nesse estudo que tanto o LM como o LMS orais são neoplasias raras, sendo que a última geralmente se apresenta como doença metastática. A avaliação histológica de rotina pode ser muito sugestiva para o diagnóstico de LMs orais, mas a imunoexpressão de h-caldesmona é fortemente recomendada para confirmação do diagnóstico de LMS.

Smooth muscle tumors are considered rare in the oral cavity, with the frequency of leiomyoma (LM) and leiomyosarcoma (LMS) being less than 1% of the total number of neoplasms diagnosed in this region. LM are clinically characterized as a slow and asymptomatic nodule, being classified as angioleiomyoma and solid LM. Histologically, solid LM appear as a proliferation of spindle cells with eosinophilic cytoplasm forming bundles or interlaced fascicles, while angioleiomyomas are composed of bundles of bland, well-differentiated smooth muscle cells and intervening variably sized blood vessels. Surgical removal is the recommended treatment and recurrences are extremely rare. LMS, on the other hand, presents clinically as a tumoral lesion that exhibits rapid and locally destructive growth, histologically showing a fascicular growth of spindle-shaped neoplastic cells, with figures of mitosis, cell atypia and tissue necrosis. The most used treatment is radical surgical excision, often showing local recurrences and distant metastases. Due to the long list of microscopic differential diagnoses of these two neoplasms, immunohistochemistry reactions are usually fundamental for the correct diagnosis. Thus, the aim of this study was to describe in detail the clinical, histopathological and immunohistochemical characteristics of a series of cases of LM and LMS affecting the oral and maxillofacial region. All cases diagnosed as LM and LMS in the period from 2000 to 2019, were recovered from the files of six oral diagnostic services. Clinical and demographic characteristics were obtained from patients' pathological records, while microscopic and immunohistochemistry characteristics were reviewed, by at least two authors simultaneously, and completed when necessary to confirm the diagnosis. Antibodies used in immunohistochemistry were: anti-α-SMA, muscle-specific actin(HHF-35), h- caldesmon and Ki67, however, whenever necessary, we used S100, desmin and CD34. Twenty-two LM and five LMS were obtained in the study. In the LM group, there was a predominance of males, with a mean age of 45.7 years. The upper lip was the most affected site, with 18 cases classified as angioleiomyoma and four as solid LM. The mean evolution time was 44.5 months and 91% of patients were asymptomatic. In the LMS group, there was a predominance of females, with a mean age of 47.6 years. The jaw was the most affected site. All patients were symptomatic, with pain, lower lip numbness and inferior alveolar nerve paresthesia, with evolution time ranging from 2- 4 months. Diffuse proliferation of spindle cells, with necrosis and mitotic figures, were frequent microscopic findings. LM and LMS were consistently positive for smooth α- SMA, HHF-35 and h-caldesmon. We concluded in this study that both LM and oral LMS are uncommon neoplasms, the latter usually presenting as a metastatic disease. H&E assessment can be very suggestive for oral LM, but immunohistochemical staining for h-caldesmon is strongly recommended to confirm the diagnosis of LMS.

Laryngeal Epstein-Barr Virus-Associated Smooth Muscle Tumor in an Undernourished Child.

Smooth muscle tumors associated with Epstein-Barr virus infections (EBV-SMT) of laryngeal origin are exceedingly rare and have been reported in few adult patients, but not in children. This reported case describes a lesion found in the larynx of an 8-year-old Guatemalan undernourished girl. Microscopically, the lesion showed a highly cellular mesenchymal spindle cell tumor, containing frequent lymphocytes. The immunohistochemical analysis revealed positivity for α-smooth muscle actin and h-caldesmon. In addition, most of the tumor cells were positive for EBV by in situ hybridization. To the best of the author's knowledge, this is the first literature-reported case of laryngeal EBV-SMT occurring in an undernourished child.

Leiomioma vesical de crecimiento extramural: Una presentación infrecuente / Extramural Growth Bladder Leiomyoma: An Infrequent Presentation

Introducción Los leiomiomas son tumores benignos de músculo liso y pueden encontrarse en cualquier parte del tracto urinario, la mayoría se origina en la vejiga. Se presentan más en mujeres y deben ser considerados como diagnóstico diferencial en cualquier tumor de vejiga. El objetivo de este trabajo es reportar el caso de una paciente con un hallazgo incidental de leiomioma de vejiga y de localización infrecuente; además de considerarse una patología poco frecuente. Reporte de caso Paciente femenina de 40 años, ingresa por urgencias con cuadro de dolor abdominal en fosa iliaca derecha, valorada por cirugía general que realiza una presunción diagnóstica de apendicitis aguda y solicita estudios complementarios que evidencian proceso inflamatorio apendicular vs mucocele apendicular en la tomografía axial computarizada (TAC), por lo que se decide realizar apendicectomía por laparoscopia. Durante el procedimiento se evidencia lesión nacarada irregular dependiente de la cúpula vesical, por lo que se procede a interconsultar durante el procedimiento con el servicio de urología. El urólogo realiza cistoscopia sin evidencia de lesiones endoluminales. Se realiza excisión de la lesión junto con apendicectomía, sin complicaciones. La patología reporta leiomioma de vejiga. Discusión y Conclusiones Los leiomiomas de vejiga son tumores benignos poco frecuentes. Por tratarse de una patología que infrecuentemente presenta síntomas, puede hallarse incidentalmente y debe ser tenida en cuenta como diagnóstico diferencial en presencia de masas vesicales. Las imágenes son de gran ayuda diagnostica, sin embargo, será la histopatología quien aporte el diagnóstico definitivo. El tratamiento podrá variar de acuerdo al tamaño y localización del tumor.

Introduction Leiomyomas are benign smooth muscle tumor that can be found in any place of the urinary tract, most of them originated from the bladder. They are presented most frequently in women and must be considered as a differential diagnosis with any bladder tumor. The objective of this study is to present a case of a patient with an incidental finding of a bladder leiomyoma and infrequent location; besides being a rare disease. Case Presentation Female patient of 40 years-old, attends the emergency room for abdominal pain in lower right quadrant. Is valorated by the surgery team, that suspected acute appendicitis and made complementary studies. The axial computerized tomography shows an inflammatory process in the cecal appendix vs appendicular mucocele. The patient was undertaken to appendectomy by laparoscopy. During the procedure, a nacreous irregular lesion dependent on the bladder dome was detected, the urology service was consulted intraoperatory call to the urology service was made. A cystoscopy was made, with no endoluminal lesions identified. An excision of the lesion and appendectomy were made without complications. Pathology of the lesion reported a bladder leiomyoma. Discussion and Conclusion Bladder leiomyomas are very uncommon benign tumors. Most cases are asymptomatic, they are an incidental finding and should always be considered a differential diagnosis of any vesical mass. Images should be helpful diagnostic tool but the gold standard is the histopathological study. The treatment might change according to the size and location of the tumor.

Differential expression, diagnostic and prognostic significance of stathmin-1 and CD147 in various uterine smooth muscle tumors / Expresión diferencial, diagnóstico y significado de pronóstico de stathmin-1 y CD147 en diferentes tumores del músculo liso uterino

SUMMARY: Uterine smooth muscle tumors (USMT) are common, behavior-distinct gynecological tumors; including: leiomyoma (ULM), leiomyosarcoma (ULMS), and smooth muscle tumors of undetermined malignant potential (STUMP). Pre-operative distinction is difficult, thus diagnosis relies on histopathology. Immunohistochemistry (IHC) had been used to help in distinction. We studied two markers (stathmin-1 and CD147) to demonstrate whether they have diagnostic/ prognostic assist. Sixty seven USMT are studied. Age, follow up, and recurrence/metastasis data were collected. Representative slides were stained and Histologic score (HS) calculated as stain intensity (SI) X percentage of positive tumor cells (PP). Results were grouped as low expression (LE) and high expression (HE); then correlated to tumor types, and risk of recurrence/ metastasis. Statistical analysis (P < 0.05); Sensitivity, specificity, positive and negative predictive values and confidence intervals in diagnosing ULMS were calculated. Stathmin-1 HS (p= 0.000) and HE (p=0.002) were different among groups. Same as for CD147 HS and HE (both p=0.000), with a gradient increase from LM to STUMP to ULMS. Sensitivity, specificity, positive and negative predictive values and confidence intervals in diagnosing ULMS were as following: For stathmin-1 HS: 92 %; 20 %; 42 %; and 80 % (CI= 44-96 %). For Stathmin-1 HE: 80 %; 66 %; 60 %; and 84 % (CI=66-94 %). For CD147 HS: 85 %; 22 %; 41 %; and 69 %. For CD147 HE: 58 %; 49 %; 42 %; and 65 % (CI= 45-80 %), respectively. Recurrence / metastasis were documented in 6 cases (4 ULMS; 2 STUMP) with follow up ranging from 6 months to 102 months. 5 tumors had stathmin-1 HE (p=0.099); 2 had CD147 HE (p=0.393) in the primary tumors. STMN1 and CD147 are helpful diagnostic tests for USMT sub-typing, especially for ULMS. Gradient increase of expression from LM, to STUMP, to ULMS may indicate a role in malignant transformation in USMT, and in increased risk of recurrences/metastasis.

RESUMEN: Los tumores del músculo liso uterino (USMT, por sus siglas en inglés) son tumores ginecológicos comunes y de comportamiento distinto; incluyendo: leiomioma (ULM), leiomiosarcoma (ULMS) y tumores de músculo liso de potencial maligno indeterminado (STUMP). La distinción preoperatoria es difícil, por lo que el diagnóstico se basa en la histopatología. La inmunohistoquímica (IHQ) se había utilizado para ayudar en la distinción. Estudiamos dos marcadores (stathmin-1 y CD147) para demostrar si había efecto diagnóstico / pronóstico. Se estudiaron 67 USMT. Se recopilaron los datos de edad, seguimiento y recurrencia / metástasis. Las muestras representativas se tiñeron y la puntuación histológica (HS) se calculó como la intensidad de la tinción (IS) x porcentaje de células tumorales positivas (PP). Los resultados se agruparon como expresión baja (EB) y expresión alta (EA); luego se correlacionaeon con los tipos de tumores y el riesgo de recurrencia / metástasis. Análisis estadístico (P <0,05); se calcularon la sensibilidad, la especificidad, los valores predictivos positivos y negativos y los intervalos de confianza en el diagnóstico de ULMS. Stathmin-1 HS (p = 0,000) y HE (p = 0,002) fueron diferentes entre los grupos. Igual que para CD147 HS y HE (ambos p = 0,000), con un aumento de gradiente de LM a STUMP a ULMS. La sensibilidad, la especificidad, los valores predictivos positivos y negativos y los intervalos de confianza en el diagnóstico de ULMS fueron los siguientes: Para stathmin-1 HS: 92 %; 20 %; 42 %; y 80 % (IC = 44-96 %). Para Stathmin-1 HE: 80 %; 66 %; 60 %; y 84 % (IC = 66-94 %). Para CD147 HS: 85 %; 22 %; 41 %; y el 69 %. Para CD147 HE: 58 %; 49 %; 42 %; y 65 % (IC = 45-80 %), respectivamente. La recurrencia / metástasis se documentaron en 6 casos (4 ULMS; 2 STUMP) con un seguimiento que osciló entre 6 meses y 102 meses. Cinco tumores tenían stathmin-1 HE (p = 0,099); dos tenían CD147 HE (p = 0,393) en los tumores primarios. STMN1 y CD147 son pruebas de diagnóstico útiles para la subclasificación de USMT, especialmente para ULMS. El aumento en el gradiente de la expresión de LM, a STUMP, a ULMS puede indicar un papel en la transformación maligna en USMT y en un mayor riesgo de recurrencias / metástasis.

Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset.

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.

Is differential expression of p16INK4a based on the classification of uterine smooth muscle tumors associated with a different prognosis? A meta-analysis.

We conducted a meta-analysis to examine p16INK4a expression in uterine smooth muscle tumors (USMTs). Although the prognostic value of tumor suppressor p16INK4a has been elucidated in a variety of cancers and precancerous lesions, its role in USMTs is not well established. We searched PubMed, Web of Science, and Embase for publication son p16INK4a expression in USMTs. Strict inclusion and exclusion criteria were imposed. Risk ratios (RRs) with 95% confidence intervals (95%CIs) were calculated to assess the strength of association. Publication bias was estimated using funnel plots and the Egger's regression test. Twelve eligible studies comprising 661 patients were included. Compared with leiomyoma (LM), the figures for the strength of association were as follows: LM variants (RR = 1.53, 95%CI = 1.03-2.27, P = 0.036, random effect); leiomyosarcoma (LMS) (RR = 3.20, 95%CI = 1.68-6.12, P < 0.001, random effect); and smooth muscle tumors of uncertain malignant potential (STUMP) (RR = 2.90, 95%CI = 1.17-7.21, P = 0.022, random effect). p16INK4a expression was significantly higher in LMS than in LM variants (RR = 3.74, 95%CI = 1.96-7.13, P < 0.001, random effect) or STUMP (RR = 1.67, 95%CI = 1.26-2.23, P < 0.001, fixed effect). There was a significant correlation between overexpressed p16INK4a and recurrence rates of USMTs (RR = 1.85, 95%CI = 1.11-3.10, P = 0.019, fixed effect). p16INK4a over expression is a potential biomarker for diagnosing problematic USMTs and it might indicate a worse prognosis. However, there is currently insufficient evidence to assess the prognostic value of p16INK4a in USMTs.

Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset

Abstract Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant manifestation of cutaneous and uterine leiomyomas together with renal cancer due to autosomal dominant germline mutations of fumarate hydratase gene. A twenty-year-old female patient presented with type-II segmental piloleiomyoma and increased menstruation due to uterine leiomyomas, with a history of bilateral nephrectomy performed at 13 and 16 years of age for type 2 papillary renal cell carcinoma. This case represents one of the very early onsets of hereditary leiomyomatosis and renal cell carcinoma syndrome. As genetic anticipation for renal cancer is a well-documented entity for HLRCC syndrome, early recognition is crucial for both the patient and her family in order to provide appropriate counseling and initiation of surveillance.

TOP2A copy number and TOP2A expression in uterine benign smooth muscle tumours and leiomyosarcoma.

AIMS: To examine TOP2A copy number, TOP2A expression, and its prognostic value in uterine leiomyosarcoma (LMS) and other benign smooth muscle tumours. METHODS: We analysed 37 patients treated for uterine LMS with immunohistochemistry for protein expression and fluorescence in situ hybridisation (FISH) for copy number. Twelve cases of leiomyoma variants (LMVs), 4 smooth muscle tumours of uncertain malignant potential (STUMP) and 23 leiomyomas (LMs) were also included. RESULTS: Eighteen patients with LMS (48.6%) were International Federation of Gynecology and Obstetrics (FIGO) stage I, six (16.2%) were stage II, four (10.8%) were stage III, and nine (24.3%) were stage IV. Twenty-one (56.8%) patients with LMS showed high expression of TOP2A. Greater TOP2A levels were found in patients with stage ≥II disease compared with stage I and also in high mitotic index tumours (>20/10 HPF (high power field)). Eleven (36.7%) cases had abnormal TOP2A copy numbers. There was no link between TOP2A copy number and TOP2A expression. All patients with benign smooth muscle tumours had low TOP2A immunohistochemical expression and one (7.7%) patient had TOP2A amplification. TOP2A expression and TOP2A copy number had no impact on disease outcomes. Only the presence of disease outside of the uterus negatively impacted survival compared with early disease (53.4 vs 15.8 months; p<0.001). CONCLUSIONS: TOP2A is highly expressed in advanced LMS but not in non-malignant diseases. TOP2A expression does not correlate with FISH results and does not predict outcome. TOP2A levels are higher in high-mitotic index tumours and in more advanced stages of disease.

Piloleiomyoma with segmental distribution--Case report.

Piloleiomyoma is an uncommon benign neoplasm arising from the erector pilorum muscle. It presents as reddish-brown papules or nodules, in general located on the limbs or trunk, often painful. The present paper describes a case of piloleiomyoma with segmental distribution on left trunk, with an important expression of pain.

Piloleiomyoma with segmental distribution - Case report

Piloleiomyoma is an uncommon benign neoplasm arising from the erector pilorum muscle. It presents as reddish-brown papules or nodules, in general located on the limbs or trunk, often painful. The present paper describes a case of piloleiomyoma with segmental distribution on left trunk, with an important expression of pain.

Nasopalpebral lipoma-coloboma syndrome: clinical, radiological, and histopathological description of a novel sporadic case.

Nasopalpebral lipoma-coloboma syndrome is an extremely uncommon autosomal dominant condition characterized by congenital upper eyelid and nasopalpebral lipomas, colobomata of upper and lower eyelids, telecanthus, and maxillary hypoplasia. A few familial and sporadic cases of this malformation syndrome have been previously reported. Here, the clinical, radiological, and histopathological features of a sporadic Mexican patient with the nasopalpebral lipoma-coloboma syndrome are described. To our knowledge, this is the first time that craniofacial 3D computed tomography imaging was used for a detailed assessment of the facial lipoma.

Tumores de musculatura lisa del intestino delgado / Tumors of the smooth muscle of the small bowell

Se presentan 12 pacientes con tumores de musculatura lisa del intestino delgado recogidos en un período de 11 años, en los Hospitales Manuel Ascunce Domenech y Amalia Simoni, de Camagüey. Se analizan edad, sexo, color de la piel y los aspectos clínicos y diagnósticos, se destaca en nuestro medio la importancia del tránsito intestinal baritado y la laparotomía exploradora. Se insiste en la necesidad de la arteriografía para el diagnóstico e insistimos en la importancia de los criterios de Ranchod y col. y en el estudio histológico dada las dificultades de filiación de los mismos. La terapéutica es quirúrgica en todos los casos agresiva y de seguimiento prolongado