scholarly journals Muir–Torre syndrome or phenocopy? The value of the immunohistochemical expression of mismatch repair proteins in sebaceous tumors of immunocompromised patients

2014 ◽  
Vol 13 (4) ◽  
pp. 553-561 ◽  
Author(s):  
G. Ponti ◽  
G. Pellacani ◽  
C. Ruini ◽  
A. Percesepe ◽  
C. Longo ◽  
...  
2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e17557-e17557
Author(s):  
Hector Chavarria ◽  
Marina Frimer ◽  
Noah D. Kauff ◽  
Veena S. John ◽  
Seema Khutti

e17557 Background: Borderline tumors (BT) are atypical proliferation of epithelium in the ovary in the absence of destructive stromal invasion, representing for 15% of all epithelial ovarian cancers. [1] Around 10% of the ovarian tumors are hereditary, and approximately 10% of all the hereditary forms of epithelial ovarian tumors are result of a loss of DNA mismatch repair (MMR). [2] Endometrioid borderline tumor (EBT) and Seromucinous borderline tumors (SMBT) are rare tumors in ovary and there is limited literature available on immunohistochemical (IHC) expression of Mismatch repair proteins(MMRP)in these tumors.[3, 4] The aim of this study is to evaluate IHC expression of MMRP in EBT and SMBT of ovary. Methods: Pathology database was searched for ovarian Endometrioid borderline tumor (EBT) and Seromucinous borderline tumor (SMBT) for a 10-year period (2010-2020). The cohort consisted of 10 EBT (6 of which had focal microinvasion or carcinoma) and 12 SMBT(2 of which had focal carcinoma ). For comparison, 1 borderline Brenner. 15 serous borderline tumors (SBT) and 15 mucinous borderline tumors (MBT) were also included. After reviewing slides, a block with adequate borderline tumor was selected for IHC stains. For the cases with carcinoma, two different blocks with each component were selected. In all selected blocks, IHC stains for four MMRP (MLH1, PMS2, MSH2, MSH6) were performed. The complete absence of nuclear staining in tumor cells was considered as “loss” of the MMRP expression. Any “weak” or “focal” nuclear staining was considered intact. Results: Total 53 cases were evaluated for MMRP IHC. All cases had intact MMRP expression. In cases with carcinoma, both components (BT and carcinoma) have intact MMR IHC expression. See table. Conclusions: Our study did not show loss of MMRP IHC expression in EMT or SMBT. However, our study consisted of a small number of cases. Multi Institutional study with a large number of cases can be helpful in future to further evaluate the role of MMRP IHC in EMT and SMBT. [Table: see text]


2018 ◽  
Vol 10 (3) ◽  
pp. 98-111
Author(s):  
Marian Adamkov ◽  
Desanka Výbohová ◽  
Slávka Drahošová ◽  
Štefan Galbavý

Objective: The aim of our study was to observe the immunohistochemical expression pattern of mismatch repair proteins (MMRP) MLH1, MSH2, MSH6 and PMS2, as well as survivin, in colon polyps. Methods: We assessed above mentioned proteins in a unified group of 124 tubular adenomatous colon polyps with regard to the presence of dysplastic abnormalities in order to explore their relationship. Furthermore, we studied their relation to such clinicomorphological parameters as the age of patients, size of adenoma, degree of dysplastic changes and localization of the lesion. Results: Survivin was expressed in 97 cases (78.2%), MLH1 was found in 111 cases (89.5%), MSH2 in 115 cases (92.7%), MSH6 in 118 cases (95.2%) and PMS2 in 105 cases (84.7%). The majority of absent MMRP cases was detected where the adenoma size was less than 10 mm with LGD (low-grade dysplasia). Survivin expression significantly correlated with the adenoma size and dysplasia grade. Subcellular survivin compartmentalization was statistically associated with the adenoma size, dysplasia grade and adenoma localization. Furthermore, we confirmed a significant relation between survivin expression and MMRP. In general, the intensity of immunoreaction was stronger in the MMRP than in survivin. Conclusions: Our recent results suggest that MMRP may suppress the antiapoptotic activity of survivin in LGD and HGD (high grade dysplasia) colon adenomas. Antecedentes: Las proteínas de reparación de desajustes (MMRP) y survivin representan señales diametralmente opuestas que pueden controlar las vías apoptóticas. Además, se sabe que tanto MMRP como survivin son poderosos parámetros pronósticos. Material y métodos: El objetivo de nuestro estudio fue observar el patrón de expresión inmunohistoquímica de MMRP MLH1, MSH2, MSH6 y PMS2, y survivin en un grupo unificado de 124 adenomatosos pólipos tubulares de colon con respecto a la presencia de anomalías displásicas para explorar sus relaciones. Además, estudiamos su relación con los parámetros clinicomorfológicos, como la edad de los pacientes, el tamaño del adenoma, el grado de cambios displásicos y la localización de la lesión. Resultados: Survivin se expresó en 97 casos (78.2%), MLH1 se encontró en 111 casos (89.5%), MSH2 en 115 casos (92.7%), MSH6 en 118 casos (95.2%) y PMS2 en 105 casos (84.7%). La mayoría de los casos ausentes de MMRP se detectaron en un tamaño de adenoma inferior a 10 mm, estos casos se asociaron principalmente con displasia de bajo grado y fueron más frecuentes en el colon distal. La expresión de survivin se correlacionó significativamente con el tamaño del adenoma y el grado de displasia. La compartimentalización de survivin subcelular se asoció estadísticamente con el tamaño del adenoma, el grado de displasia y localización del adenoma. Además, confirmamos una relación significativa entre la expresión de survivin y el MMRP. En general, la intensidad de la inmunorreacción fue más fuerte en MMRP en comparación con la intensidad del survivin. Conclusiones: Con base en nuestros resultados recientes, sugerimos que el MMRP puede suprimir la actividad antiapoptótica del survivin en los adenomas de colon con displasias de bajo y alto grado.


2019 ◽  
Vol 475 (2) ◽  
pp. 223-231 ◽  
Author(s):  
Raquel Albero-González ◽  
Silvia Hernández-Llodrà ◽  
Nuria Juanpere ◽  
Marta Lorenzo ◽  
Adrià Lloret ◽  
...  

2017 ◽  
Vol 5 (1) ◽  
pp. 9-13 ◽  
Author(s):  
Nour El Hoda S. Ismael ◽  
Samar A. El Sheikh ◽  
Suzan M. Talaat ◽  
Eman M. Salem

BACKGROUND: Colorectal cancer (CRC) is one of the most common cancers worldwide. Microsatellite instability (MSI) is detected in about 15% of all colorectal cancers. CRC with MSI has particular characteristics such as improved survival rates and better prognosis. They also have a distinct sensitivity to the action of chemotherapy.AIM: The aim of the study was to detect microsatellite instability in a cohort of colorectal cancer Egyptian patients using the immunohistochemical expression of mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2).MATERIAL AND METHODS: Cases were divided into Microsatellite stable (MSS), Microsatellite unstable low (MSI-L) and Microsatellite unstable high (MSI-H). This Microsatellite stability status was correlated with different clinicopathological parameters.RESULTS: There was a statistically significant correlation between the age of cases, tumor site & grade and the microsatellite stability status. There was no statistically significant correlation between the gender of patients, tumor subtype, stage, mucoid change, necrosis, tumor borders, lymphocytic response, lymphovascular emboli and the microsatellite stability status.CONCLUSION: Testing for MSI should be done for all colorectal cancer patients, especially those younger than 50 years old, right sided and high-grade CRCs.


2020 ◽  
Vol 8 (A) ◽  
pp. 306-310
Author(s):  
Nour El Hoda S. Ismael ◽  
Hala M. Naguib ◽  
Suzan Mohamed Talaat ◽  
Rasha F. Bakry

BACKGROUND: Endometrial cancer (EC) is the fourth most common female cancer worldwide constituting 7% of cancer in women. It is a disease of older, postmenopausal women. The most of these patients have an identifiable source of excess estrogen, while in a small subset the pathogenesis is related to mismatch repair abnormality and lynch syndrome (LC). Mismatch repair behave as tumor suppressors and the most clinically relevant include MLH1, MSH2, MSH6, and PMS2. mutations in mismatch repair (MMR) results in a strong mutator phenotype known as microsatellite instability, which is a hallmark of LC-associated cancers. AIM: The aim of the study was to study microsatellite instability in endometrial cancer using the immunohistochemical expression of mismatch repair proteins (MLH1, MSH2, MSH6 and PMS2). MATERIAL AND METHODS: Sixty EC cases were studied using MLH-1, MSH-2, MSH-6, and PMS-2 immunohistochemistry and their expression was correlated with different clinicopathologic parameters. RESULTS: A statistically significant relationship exists between MMR immunohistochemistry (IHC) proteins and tumor grade. Intact MMR proteins profile was associated with the lower tumor grade (31.3% were Grade 1 and 46.9% were Grade 2). Combined loss of MLH1/PMS2, combined loss of MSH2/MSH6, and isolated loss of PMS2 were also associated with the lower tumor grade while isolated loss of MSH6 was associated with the high tumor grade. However, no statistically significant correlation was found between MMR IHC proteins expression and the age of patients; tumor histopathological types, or FIGO stage. CONCLUSION: A statistically significant correlation between the tumor grade of EC cases and the MMR IHC proteins was found. Further studies are recommended to assess correlation between MMR proteins defect and different clinicopathological parameters of endometrial carcinoma.


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