Aiat Shaban Hemida, Reham Ahmed Abdelaziz, Moshira Mohammed Abd El-Wahed, Nancy Yousef Asaad, Marwa Mohammed Serag El-Dien, Hend Ali Elshahat Ali
{"title":"Significance of RCC2, Rac1 and p53 Expression in Breast Infiltrating Ductal Carcinoma; An Immunohistochemical Study.","authors":"Aiat Shaban Hemida, Reham Ahmed Abdelaziz, Moshira Mohammed Abd El-Wahed, Nancy Yousef Asaad, Marwa Mohammed Serag El-Dien, Hend Ali Elshahat Ali","doi":"10.30699/IJP.2024.2014367.3198","DOIUrl":"10.30699/IJP.2024.2014367.3198","url":null,"abstract":"<p><strong>Background & objective: </strong>The regulator of chromosome condensation 2 (RCC2) and RAS-related C3 botulinum toxin substrate 1 (Rac1) have been implicated in the promotion of breast cancer cell proliferation and migration. The signaling pathway involving p53/RCC2/Rac1 has been proposed to contribute to the regulation of colon cancer metastasis. However, until now, this pathway has not been thoroughly investigated in breast cancer. This study seeks to explore the influence of immunohistochemical expression and the correlation among RCC2, Rac1, and p53 in breast infiltrating ductal carcinoma (IDC).</p><p><strong>Methods: </strong>Immunostaining was performed on 120 breast IDC specimens using RCC2, Rac1, and p53 antibodies. Statistical analyses were conducted to examine the correlations between these antibodies.</p><p><strong>Results: </strong>A Positive expression of RCC2, Rac1, and p53 was observed in 116 (96.7%), 120 (100%), and 33 (27.5%) of the breast cancer cases, respectively. RCC2, Rac1, and p53 demonstrated association with poor prognostic parameters such as frequent mitoses, high Ki-67 status, positive lymphovascular invasion (LVI), and advanced tumor stage. A highly significant direct correlation was found between each immunohistochemical marker and the other two markers. Shorter overall survival was linked to multifocal tumors (<i>P</i>=0.017), advanced tumor stage (T3) (<i>P</i>=0.010), Luminal B subtype (<i>P</i>=0.015), progressive disease (<i>P</i>=0.003), positive Her2neu status (<i>P</i>=0.008), and metastasis to distant organs (<i>P</i><0.001). However, RCC2, Rac1, and p53 did not exhibit a significant association with overall survival.</p><p><strong>Conclusion: </strong>The high expression levels of RCC2, Rac1, and p53 in breast IDC suggest their potential role in tumor behavior. The association of RCC2 and Rac1 with poor prognostic parameters may serve as predictive indicators for aggressive tumors, thus implying that targeted therapy could be beneficial in the treatment of breast cancer.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 2","pages":"177-192"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11304461/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effective Ki-67 Reduction by Pre-Surgery Short-Term Administration of Letrozole in (Hormone-Positive) Breast Cancer.","authors":"Bita Eslami, Sadaf Alipour, Farzaneh Golfam, Behnaz Jahabnin, Ramesh Omranipour","doi":"10.30699/IJP.2023.2002772.3118","DOIUrl":"10.30699/IJP.2023.2002772.3118","url":null,"abstract":"<p><strong>Background & objective: </strong>Antigen Ki-67 (histone-based nuclear protein) is a static marker of tumor cell proliferation and growth and is commonly measured to indicate the effect of treatment in breast cancer patients. This single-arm trial study aimed to evaluate the effect of short-term endocrine therapy (letrozole) on Ki-67 levels in menopausal women with early hormone-positive breast cancer who were referred to two university hospitals.</p><p><strong>Methods: </strong>Patients with a pre-treatment Ki67 of 5% or less were excluded from the study. Participants (n=25) received oral letrozole (2.5 mg daily) seven days before surgery. Ki-67% on both biopsies and the surgical specimens were measured and compared.</p><p><strong>Results and conclusion: </strong>The mean age of patients was 62±9.4 (48-83 years). Our result indicated that pre-surgery consumption of letrozole for hormone-positive breast cancer can significantly decrease the of Ki-67 labeling index (23.24±9.74 vs. 16.92±9.55, <i>P</i>=0.001 by paired t-test), with no drug-related adverse events.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 1","pages":"103-106"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Manish Shetty, Deepa Sowkur Anandarama Adiga, Chaithra G V
{"title":"Study of Expression of P16 in Premalignant and Malignant Lesions of Penis and Their Significance.","authors":"Manish Shetty, Deepa Sowkur Anandarama Adiga, Chaithra G V","doi":"10.30699/IJP.2024.1998898.3092","DOIUrl":"10.30699/IJP.2024.1998898.3092","url":null,"abstract":"<p><strong>Background & objective: </strong>Penile squamous cell carcinoma (SCC) is an extremely rare malignancy. It is usually caused by chronic human papillomavirus (HPV) 16 and HPV 18 infections. This study was conducted to investigate the immunohistochemical overexpression of p16, a surrogate marker for HPV, and to evaluate its usefulness as a potential diagnostic biomarker.</p><p><strong>Methods: </strong>In this cross-sectional prospective and retrospective cohort study, 56 penile squamous cell carcinoma (SCC) specimens and five penile premalignant specimens were evaluated in Kasturba Medical College, Mangalore, India, from January 2013- December 2018 in terms of clinical and histopathological features. Immunohistochemical expression for p16 in cases and controls was evaluated. Statistical comparison of p16 expression among clinical features, histological subtype, grade, and stages of tumor were done.</p><p><strong>Results: </strong>Analysis of the pattern of p16 staining showed diffuse and strong nuclear and cytoplasmic expression in 32.8% of the cases. There was a highly significant association (<i>P</i><0.001) of pattern of p16 expression among the HPV and non-HPV subtypes of penile carcinoma. p16 expression was not significantly associated with other prognostic parameters like site of the lesion, lymphovascular invasion, perineural invasion, histologic grade, and pathologic stage.</p><p><strong>Conclusion: </strong>Expression of p16 would be a useful tool in differentiation between the HPV-associated and non-HPV-associated subtypes of penile SCC that may be helpful in prediction of aggressiveness and invasive potential of the respective histologic subtypes.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 1","pages":"50-58"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164305/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mahsa Soti Khiabani, Maryam Monajemzadeh, Hojatollah Raji, Fatemeh Zamani, Mohammad Vaseie, Neda Pak
{"title":"Pediatric Inflammatory Myofibroblastic Tumor of Rectosigmoid Junction: A Case Report and Review of the Literature.","authors":"Mahsa Soti Khiabani, Maryam Monajemzadeh, Hojatollah Raji, Fatemeh Zamani, Mohammad Vaseie, Neda Pak","doi":"10.30699/ijp.2024.2003653.3122","DOIUrl":"10.30699/ijp.2024.2003653.3122","url":null,"abstract":"<p><p>The occurrence of rectosigmoid junction inflammatory myofibroblastic tumor (IMT) is uncommon in children. This is a rare form of mesenchymal tumor, belonging to the category of soft tissue tumors, and can be found at any anatomical site from the central nervous system to the gastrointestinal tract. Our patient was a 10-year-old male subject complaining of lack of defecation and constipation. The patient had decreased the frequency of defecation and constipation about two weeks before his referral and had not improved despite the use of laxatives. The abdomen was completely distended and there was no tenderness or guarding in the examination. Several airfluid levels are shown on the abdominal X-ray. In the ultrasound, free fluid was reported in the interlobular and pelvic spaces. The patient was transferred into the operating room. A tumor of the rectosigmoid junction was detected. Histopathologic studies showed evidence of IMT. IMT is a rare neoplasm of unknown origin, which may occur in various sites of the body. Complete surgical removal is usually curative, but early detection of recurrence is required. Treatment options include chemotherapy, radiation therapy, and immunotherapy. Further investigations are needed to improve the understanding and management of this rare tumor.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 1","pages":"132-136"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164313/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Prospective Analytical Case-Control Study of COVID-19 Positive Versus Negative Patients for Subclinical Placental Dysfunction.","authors":"Poojan Dogra Marwaha, Jyoti Bala, Suchi Sharma, Asmita Kaundal, Neha Chauhan","doi":"10.30699/IJP.2024.2017566.3225","DOIUrl":"10.30699/IJP.2024.2017566.3225","url":null,"abstract":"<p><strong>Background & objective: </strong>Placenta provides nutrition and protection from various infections and toxins to the baby while they are in the mother's womb. The present study was done to see the effects of coronavirus infection on the placenta of infected mothers and the final pregnancy outcome.</p><p><strong>Methods: </strong>A total of 50 antenatal women (25 infected with coronavirus and 25 uninfected women) were enrolled and their placentae were examined for any significant histopathological changes. These changes were then correlated with the final pregnancy outcome.</p><p><strong>Results: </strong>A significant number of placentae from infected mothers demonstrated features of maternal (54%) and fetal malperfusion (76%). However, no significant adverse pregnancy outcome was noted.</p><p><strong>Conclusion: </strong>Increased rates of maternal malperfusion, and fetal malperfusion may be seen in placentae from infected women. However, these changes may not progress to any adverse fetal outcomes.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 3","pages":"300-305"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646204/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839846","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Outcomes of Patients with COVID-19 and Fungal Coinfections: A Systematic Review and Meta-Analysis Study.","authors":"Sadegh Khodavaisy, Haleh Sarrafnia, Alireza Abdollahi","doi":"10.30699/IJP.2024.2010087.3160","DOIUrl":"10.30699/IJP.2024.2010087.3160","url":null,"abstract":"<p><strong>Background & objective: </strong>Fungal co-infections increase the incidence and mortality of viral respiratory tract infections. This study systematically reviews and conducts a meta-analysis to evaluate the prevalence of COVID-19 patients with fungal coinfections. The aim is to provide a concise overview of the impact of these infections on patient outcomes especially association with risk of mortality, informing future research and optimizing patient management strategies.</p><p><strong>Methods: </strong>To identify relevant studies on COVID-19 patients, we conducted a systematic search of databases from the beginning of the year until July 2023, including fungal co-infections, mortality, and sequelae. Eligibility criteria were developed using the PICO framework, and data extraction was carried out separately by two authors using standard techniques. Statistical analysis was performed using the correlation model and differences between studies were evaluated using the I2 test. R and RStudio were used for statistical analysis and visualization.</p><p><strong>Results: </strong>We initially identified 6,764 studies, and after checking for equivalence and consistency, 41 studies were included in the final analysis. The overall COVID-19 odds ratio for people who died from fungal infections was 2.65, indicating that patients infected with both COVID-19 and fungal infections had a higher risk of death compared to patients with COVID-19 alone. Specifically, COVID-19-associated pulmonary aspergillosis (CAPA) has a higher odds ratio of 3.36, while COVID-19-associated candidiasis (CAC) has an odds ratio of 1.84, and both are much more associated with death. However, coinfection of the fungus with other fungal species did not show a significant difference in the risk of mortality.</p><p><strong>Conclusion: </strong>This study identified CAPA and CAC as the most common infections acquired in healthcare settings. Fungal coinfections may be associated with an increased risk of death in COVID-19 patients.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 2","pages":"136-147"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11304463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Histopathological Examination of Lung Necropsy of 11 Patients Who Died Due to COVID-19: A Case Series.","authors":"Bahram Nikkhoo, Karim Naseri, Ramyar Rahimi Darehbagh, Mehrdad Habiby, Bahar Moasses-Ghafari","doi":"10.30699/IJP.2023.2008773.3153","DOIUrl":"10.30699/IJP.2023.2008773.3153","url":null,"abstract":"<p><p>COVID-19 is known to present with acute respiratory distress syndrome pathological manifestations. Studies have shown that patients with COVID-19 can develop diffuse alveolar damage, acute bronchopneumonia, necrotic bronchiolitis, and viral pneumonia. In this study, we investigated 11 cases. Needle necropsies of 11 patients, hospitalized at Tohid and Kowsar hospitals of Kurdistan University of Medical Sciences, with a positive antemortem SARS-CoV-2 (COVID-19) real-time PCR test, were fixated within 3 hours after death in the negative-pressure isolation morgue. The participants included six men (54%) and five women (46%) with a mean age of 73.82±10.58 (52-86) years old. The average hospitalization was 14.27±15.72 days. The results showed interstitial lymphocytic pneumonitis in most of the cases, varied from mild to moderate and up to severe in some cases. In 7 cases, anthracosis was noted, while one case demonstrated anthracosis with fibrosis. The hyaline membrane was reported in two patients. In one case, severe interstitial lymphocytic pneumonia with intra-alveolar exudate with organization, lithiasis, bronchiolitis pattern (BOOP), intra-alveolar hemorrhage, and mild fibrosis were seen. As a result, it is suggested to keep an eye on these pathologies in management of the severe cases of COVID-19 infection.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 1","pages":"126-131"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307058","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Dina Mohamed Allam, Hend Kasem, Amira Hegazy, Shereen F Mahmoud
{"title":"Role of CTLA4 and pSTAT3 Immunostaining in Prognosis and Treatment of the Colorectal Carcinoma.","authors":"Dina Mohamed Allam, Hend Kasem, Amira Hegazy, Shereen F Mahmoud","doi":"10.30699/IJP.2024.2009619.3158","DOIUrl":"10.30699/IJP.2024.2009619.3158","url":null,"abstract":"<p><strong>Background & objective: </strong>Colorectal carcinoma (CRC) is the third leading cause of cancer-caused death worldwide and constitutes about 6.48% of all malignancies in Egypt. Studying the molecular profile of CRC is essential for developing targeted therapies. STAT3 and CTLA4 expression are considered as molecular abnormalities involved in the CRC progression and chemo-resistance. Therefore, they could be used as potential therapeutic targets. This study aimed to evaluate pSTAT3 and CTLA4 expression levels and their possible roles as prognostic and predictive biomarkers in CRC using immunohistochemistry (IHC).</p><p><strong>Methods: </strong>This retrospective study included 113 CRC patients. Tissue microarrays were constructed, followed by pSTAT3 and CTLA4 antibodies immunostaining. Their expression was assessed and compared with the clinicopathological parameters and survival data.</p><p><strong>Results: </strong>Both pSTAT3 and CTLA4 overexpression were significantly associated with poor prognostic parameters, such as the presence of distant metastasis (<i>P</i>=0.02 & 0.03), high grade (<i>P</i><0.001 & 0.03), high mitotic count (<i>P</i><0.001 & 0.03), high tumor budding group (<i>P</i>=0.008 & 0.04), infiltrating tumor border (<i>P</i><0.001 & 0.007) respectively, and advanced pathological stage with pSTAT3 (<i>P</i>=0.02). A significant association was found between overexpression of both markers and short overall survival. Correlations between the H-score of pSTAT3 and CTLA4 in CRC showed a significant positive correlation (<i>P</i><0.001).</p><p><strong>Conclusion: </strong>STAT3 and CTLA4 positivity may be linked to the development and progression of the CRC, and they may provide potential prognostic indicators and therapeutic targets for CRC patients.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 1","pages":"89-102"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11164302/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141307062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Differences in CD24 Expression Between Prostate Adenocarcinoma and Benign Prostatic Hyperplasia: A Cross-sectional Study.","authors":"Mahdi Sajedifar, Atieh Jafarabadi Ashtiani, Mohammadreza Jalali Nadoushan","doi":"10.30699/ijp.2024.2021959.3251","DOIUrl":"10.30699/ijp.2024.2021959.3251","url":null,"abstract":"<p><strong>Background & objective: </strong><i>CD24</i> is a small, highly glycosylated membrane protein whose expression is associated with tumorigenesis and the progression of several types of cancer. Prostate adenocarcinoma is one of the most common cancers in men, and microscopic Gleason grading is an important factor affecting prognosis. This study aims to investigate the relationship between immunohistochemical expression of <i>CD24</i> and its relationship with benign prostatic hyperplasia (BPH) and Gleason grade in prostate adenocarcinoma.</p><p><strong>Methods: </strong>This cross-sectional study was conducted on 163 patients, with an average age of 70.63±9.05 years, including 78 (47.9%) patients with prostate adenocarcinoma and 85 (52.1%) patients with benign prostatic hyperplasia., referred to Mostafa Khomeini Hospital in Tehran between 2018 and 2021, who underwent open prostatectomy or Trans Urethral Resection of Prostate (TURP). Immunohistochemical staining was used to evaluate <i>CD24</i> expression, and Gleason grade was determined in the case of prostate adenocarcinoma. Data were analyzed with SPSS 22 and a P-value<0.05 was considered statistically significant.</p><p><strong>Results: </strong>The percentage and intensity of <i>CD24</i> staining in prostate adenocarcinoma patients was significantly higher than in BPH patients (<i>P</i><0.05). Gleason score strongly correlated with the percentage and intensity of <i>CD24</i> staining (<i>P</i><0.05). The immunoreactive score, obtained by multiplying the <i>CD24</i> expression percentage with staining intensity, was also significantly related to the Gleason score (<i>P</i><0.05).</p><p><strong>Conclusion: </strong><i>CD24</i> expression can be considered as a factor in differentiating cases of prostate adenocarcinoma from benign prostatic hyperplasia. Also, a high level of this marker can indicate the progress of prostate cancer.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 3","pages":"306-310"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646202/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Peripheral Neuropathy in Mitochondrial Trifunctional Protein Deficiency due to a Variant in <i>HADHA</i> Gene.","authors":"Samaneh Abedidoust, Reza-Shervin Badv, Amitis Saliani, Aileen Azari-Yam","doi":"10.30699/IJP.2024.2010490.3163","DOIUrl":"10.30699/IJP.2024.2010490.3163","url":null,"abstract":"<p><p>We report a 4.5-year-old girl with recurrent episodes of bilateral lower limb weakness following periods of upper respiratory tract infection since the age of 1.5 years. Nerve conduction velocity and electromyography studies suggested distal motor neuropathy. The whole exome sequencing analysis revealed a homozygous variant, c.955G>A (p.Gly319Ser), of the mitochondrial trifunctional protein α-subunit (HADHA) gene. This variant has already been reported as pathogenic in an Iranian consanguineous family with a probable diagnosis of Charcot-Marie-Tooth disease. In addition, this variant, in compound heterozygosity with another likely pathogenic variant, has been known to be linked with mitochondrial trifunctional protein deficiency.</p>","PeriodicalId":38900,"journal":{"name":"Iranian Journal of Pathology","volume":"19 3","pages":"355-358"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11646195/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142839835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}