{"title":"Intestinal Lymphangioma With Extensive Secondary Lymphangiectasia Causing Life-Threatening Hemorrhage: First Case Requiring Small Bowel Transplantation.","authors":"Nasibeh Sargazi Moghadaam, Bita Geramizadeh, Zahra Hajizadeh, Hamed Nikoupour, Sara Farifteh","doi":"10.1155/crip/6663208","DOIUrl":"10.1155/crip/6663208","url":null,"abstract":"<p><strong>Background: </strong>Intestinal lymphangiectasia is a rare disorder characterized by dilated lymphatic vessels in the gastrointestinal tract, typically presenting with protein-losing enteropathy. Adult-onset cases with severe gastrointestinal bleeding are exceptionally rare.</p><p><strong>Case presentation: </strong>A 40-year-old male presented with severe recurrent gastrointestinal bleeding and iron-deficiency anemia. Double-balloon enteroscopy revealed diffuse jejunal infiltration with white villi throughout the jejunum, consistent with lymphatic dilation. CT imaging showed mesenteric lymphadenopathy. Technetium-99m-labeled red blood cell scintigraphy demonstrated active bleeding within the superior mesenteric artery distribution. Histopathological examination confirmed intestinal lymphangioma with extensive secondary lymphangiectasia. Despite conservative management, refractory bleeding requiring over 20 units of packed red blood cells necessitated small bowel transplantation with subtotal colectomy. Pathological examination of the resected specimen revealed extensive lymphangiectasia affecting the small intestine, colon, appendix, and gallbladder. Notably, all mesenteric lymph nodes showed only reactive hyperplasia, excluding a lymphoproliferative disorder. The patient developed postoperative complications, including extensive venous thrombosis, empyema, and multiorgan failure, succumbing on postoperative Day 20.</p><p><strong>Conclusion: </strong>This represents the first reported case of intestinal lymphangioma with extensive secondary lymphangiectasia requiring small bowel transplantation. The atypical presentation without classic protein-losing enteropathy features, multiorgan gastrointestinal involvement, and fatal outcome highlight the variable clinical spectrum and potential severity of this rare condition.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"6663208"},"PeriodicalIF":0.4,"publicationDate":"2026-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13570656/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148956816","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":"Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in <i>ALAS2</i> Be the Culprit?","authors":"Greg Brown, Stephen Brown","doi":"10.1155/crip/1311428","DOIUrl":"10.1155/crip/1311428","url":null,"abstract":"<p><strong>Background: </strong>Heme synthesis is critical for several biological processes, including mitochondrial energy production and oxygen delivery via hemoglobin. The initial and rate-limiting step in heme synthesis is the conjugation of glycine with succinyl-CoA to form 5-aminolevulinic acid (ALA), which is catalyzed by two closely related enzymes that are coded by highly homologous genes, known as <i>ALAS1</i> and <i>ALAS2</i>. Loss-of-function variants in <i>ALAS2</i> result in sideroblastic anemia, whereas gain-of-function variants result in porphyria. We present a case of a woman who died with severe metabolic acidosis and was found to have a rare variant in <i>ALAS2</i>. We propose the hypothesis that the <i>ALAS2</i> variant, in conjunction with other factors, was responsible for her demise.</p><p><strong>Case report: </strong>A previously healthy 34-year-old woman presented to the emergency department of her local hospital complaining of severe fatigue. Her arterial pH was 6.95. No cause for her acidosis could be identified, and she expired from unremitting acidosis. The autopsy was notable for an enlarged liver. Whole exome sequencing identified a rare, paternally inherited variant in <i>ALAS2</i>. This prompted a re-evaluation of the autopsy and the development of a novel hypothesis to explain her acidosis. We propose that the <i>ALAS2</i> variant identified in this family, NM_000032.5(<i>ALAS2</i>)c.1273C>T(p.Pro425Ser), is a conditional allele that can contribute to mitochondrial dysfunction under unusual conditions.</p><p><strong>Discussion: </strong>We hypothesize that the P425S variant identified in <i>ALAS2</i> leads to dysfunction of the homeostatic down-regulation of <i>ALAS2</i> in times of cofactor deficiency. This case illustrates that DNA sequencing as a part of the autopsy procedure will, as it becomes more routine, lead to the identification of sequence variants that may or may not be clinically relevant. The pursuit of hypotheses, prompted by genetic data, has the potential to identify novel pathogenic mechanisms.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"1311428"},"PeriodicalIF":0.4,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13527636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148867192","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":"Invasive Adenosquamous Carcinoma of the Pancreas: Two Case Reports From Tanzania and a Literature Review.","authors":"Hilary Chipongo, Deogratias Mwanjamila, Alex Mashaka, Shafii Ramadhani, Theresia Mushi, Dammy Shimbo, Amos Mwakigonja, Asteria Kimambo","doi":"10.1155/crip/3003748","DOIUrl":"10.1155/crip/3003748","url":null,"abstract":"<p><strong>Background: </strong>The prevalence of pancreatic cancer is increasing globally, with over 510,566 new cases reported in the literature in 2022. Adenosquamous carcinoma of the pancreas is a rare histological variant with poor prognosis compared to other exocrine pancreatic cancer subtypes. Little is known about the prevalence of PASC in sub-Saharan Africa.</p><p><strong>Case presentation: </strong>Two cases are presented here: Case 1 reports PASC with invasion of the gallbladder and duodenum, and Case 2 shows early-onset PASC at an even younger age. Diagnosis was made through clinical evaluation and imaging and confirmed by histological findings.</p><p><strong>Conclusion: </strong>Due to its similar presentation with pancreatic adenocarcinoma, lack of routine immunohistochemistry in some cases, and limited access to some cross-sectional imaging, PASC is often misdiagnosed or detected late. These two cases, one with invasion of the duodenum and gallbladder and the other with atypical presentation and hepatic metastasis, highlight the need for a high clinical suspicion and histopathological confirmation in sub-Saharan Africa.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"3003748"},"PeriodicalIF":0.4,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13492051/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799252","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":"Acute Esophageal Necrosis \"Black Esophagus\" in a Patient With Advanced Renal Cell Carcinoma: An Autopsy Case Report.","authors":"Kamaleldein Einar, Niki Shrestha, Dayne Ashman, Omar Samarah, Issa Snoubar, Akram Shalaby","doi":"10.1155/crip/7502949","DOIUrl":"10.1155/crip/7502949","url":null,"abstract":"<p><p>Acute esophageal necrosis (AEN), also called \"black esophagus,\" is a rare, life-threatening condition characterized by circumferential black discoloration of the esophageal mucosa, usually secondary to ischemia, impaired mucosal defenses, and gastric acid injury. It is often associated with severe debilitating illnesses, diabetes mellitus, malignancy, and hemodynamic shock, among other comorbidities. We report a female patient in her 80s with a history of breast cancer who presented with gross hematuria and was diagnosed with advanced clear cell renal cell carcinoma with inferior vena cava thrombosis. She underwent radical nephrectomy with vascular reconstruction, and the postoperative course was complicated by bleeding and sudden cardiopulmonary collapse on the second postoperative day, leading to death. Autopsy revealed acute tubular necrosis, cardiomegaly, diffuse alveolar damage, and circumferential black discoloration and necrosis of the distal esophagus, consistent with AEN. To our knowledge, this is the first case of AEN in the setting of renal cell carcinoma reported in the English language literature. The condition was not clinically suspected during hospitalization, underscoring its diagnostic challenge and potential under-recognition.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"7502949"},"PeriodicalIF":0.4,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13487695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799261","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}
Hong Yu, Sonalben L Italiya, Hongbo Wang, Jason Koshy, Ya Xu
{"title":"Mass-Forming NSAID-Associated Colopathy Mimicking Right-Sided Colon Cancer: A Case Report.","authors":"Hong Yu, Sonalben L Italiya, Hongbo Wang, Jason Koshy, Ya Xu","doi":"10.1155/crip/2605428","DOIUrl":"10.1155/crip/2605428","url":null,"abstract":"<p><p>Nonsteroidal anti-inflammatory drugs (NSAIDs) can cause mucosal injury throughout the gastrointestinal tract, yet NSAID-related colonic damage remains underrecognized. We report a rare case of an ulcerated colonic mass mimicking carcinoma in a patient with long-term NSAID exposure. The patient, a 63-year-old man with a history of coronary artery disease and coronary artery bypass grafting more than 25 years earlier, was receiving long-term dual antiplatelet therapy consisting of aspirin (81 mg daily) and clopidogrel (75 mg daily), as well as chronic pantoprazole therapy. He presented with a 4-day history of hematochezia without weight loss. Esophagogastroduodenoscopy revealed no bleeding source, but colonoscopy identified an ulcerated, nonobstructive mass in the cecum and proximal ascending colon. A biopsy revealed colonic mucosa with severe ulceration and granulation tissue. The subsequent right hemicolectomy specimen revealed a 5.5-cm, ill-defined ulcerative mass in the cecum and ascending colon. Microscopically, the cecum and ascending colon showed ulcerated mucosa with fibrosis, reactive changes, and foreign body material deposition, without evidence of malignancy. Immunohistochemical stains for cytomegalovirus (CMV) and herpes simplex virus (HSV) were negative. Following surgery, aspirin and clopidogrel were resumed because of the patient's cardiovascular risk. Approximately 1 year later, his hemoglobin level was 12.0 g/dL (6.7 g/dL before surgery), and no gastrointestinal bleeding, diarrhea, or abdominal pain was documented during that encounter. Because aspirin was continued, a clinical response to medication withdrawal could not be assessed. Based on the medication history, right-sided distribution, and histologic findings, the lesion was considered most consistent with suspected aspirin-associated colopathy presenting as a mass-like lesion. However, the concomitant clopidogrel and pantoprazole use and the absence of a formal aspirin dechallenge limited definitive causal attribution.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"2605428"},"PeriodicalIF":0.4,"publicationDate":"2026-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13488003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148799292","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":"A Rare Case of Bilateral Mature Teratoma With Disseminated Deposits and Ascitic Fluid Involvement in a Young Female: An Exceptional Case Report.","authors":"Rajashree Jeyaraman, Roobashri Murugan, Bhawana Badhe, Debasis Gochhait","doi":"10.1155/crip/5718179","DOIUrl":"10.1155/crip/5718179","url":null,"abstract":"<p><p>Teratoma is a germ cell neoplasm of the ovary. There are two main types of teratomas: mature teratoma and immature teratoma. Teratomas can rarely be associated with disseminated deposits. It is most commonly seen in immature teratomas. Mature teratomas with deposits are exceedingly rare. Glial tissue is the most widely implanted tissue in the case of teratomas. We report a case of immature teratoma of the ovary, postneoadjuvant chemotherapy with abdominal pain and distension. Imaging revealed an ovarian mass. Following this, total abdominal hysterectomy and bilateral salpingo-oophorectomy were performed. The patient was diagnosed with bilateral mature teratoma with disseminated deposits and ascitic fluid involvement. These deposits comprised elements with derivatives of all three germ cell layers. This case will help to shed light on the literature regarding the status of disseminated deposits and ascitic fluid involvement in mature teratoma of the ovary.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"5718179"},"PeriodicalIF":0.4,"publicationDate":"2026-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13464114/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148723747","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":"A Peculiar Accessory Scrotum With a Human Tail-Like Structure: A Case Report.","authors":"Hiroshi Sonobe, Rika Omote, Ryutaro Kondo, Souji Ibuka, Ryuta Saka, Shun Iwasaki, Taku Yamamichi","doi":"10.1155/crip/9623598","DOIUrl":"10.1155/crip/9623598","url":null,"abstract":"<p><p>Accessory scrotum is a rare congenital anomaly resulting from aberrant scrotal development. It is usually present at birth in the perineum of male infants and is often associated with a lipoma at its base. Here, we report a peculiar case of an accessory scrotum present at birth on the skin adjacent to the anus. The accessory scrotum was continuous with a narrow stalk consisting of longitudinally oriented connective tissue and nerve bundles within the fatty tissue, which further extended to a terminal nodule containing articular cartilage and marrow tissues in the ischiorectal fossa, forming a 7-cm-long structure. The components of the stalk and terminal nodule resembled those described in the human tail but ran subcutaneously without a skin covering. Therefore, the lesion was diagnosed as an accessory scrotum with a human tail-like structure. The lesion was completely resected at 10 months of age. Preoperative whole-body computed tomography revealed no other anomalies, and the infant demonstrated normal development approximately 1 year postoperatively. To our knowledge, no similar cases have been reported, and its histogenesis remains unexplained. We postulated that this lesion may result from the ectopic migration of pluripotent cells derived from the tail bud during early embryonic development. This case provides unique insights into the shared embryological mechanisms between accessory scrotum and human tail-like anomalies.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"9623598"},"PeriodicalIF":0.4,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403219/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148608441","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":"Segmental Absence of Intestinal Musculature in Adults: A Report of Five Cases Among 86 Intestinal Perforations.","authors":"Naoko Nambu, Yuki Kubo, Tsukasa Yoshikawa, Kaito Muroki, Nobuyuki Terada, Shin-Ichi Nakatsuka","doi":"10.1155/crip/2027784","DOIUrl":"10.1155/crip/2027784","url":null,"abstract":"<p><p>Among 86 adult patients who underwent surgery for intestinal perforation, excluding cases caused by cancer invasion or appendicitis, diverticulitis (33/86, 38%) was identified as the most common cause of perforation, followed by ischaemia (7/86, 8%) and segmental absence of intestinal musculature (SAIM) (5/86, 6%). In patients with SAIM-related perforation, the site of perforation was the sigmoid colon in four cases and the caecum in one. SAIM-related perforation occurred predominantly in older women and most frequently involved the sigmoid colon. The four patients with sigmoid colon perforation showed an abrupt loss of the muscularis propria. In the patient with caecal perforation, the muscularis propria exhibited separation and thinning with focal complete loss. Secondary inflammation or haemorrhage associated with the perforation was observed in the bowel wall surrounding the perforation site. However, there was no evidence of primary suppurative inflammation or necrosis causing of perforation. Given that the prevalence of SAIM among patients with bowel perforation appeared to be higher than previously assumed, it is essential to histologically examine sufficient tissue samples to avoid missing this diagnosis. Recognition of SAIM is clinically important, especially in adults without previous or current evidence of intestinal disease, as it should be considered a possible cause of intestinal perforation, thereby facilitating early diagnosis and prompt treatment.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"2027784"},"PeriodicalIF":0.4,"publicationDate":"2026-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13392816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148580469","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}
Ania Mezouari, Yaritza Gonzalez Ruiz, Anthony Serici, Virginia Fernandez, Guido Santacana-Laffitte, Vangie Texidor
{"title":"Recurrent Uterine Smooth Muscle Tumor of Uncertain Malignant Potential in a Postmenopausal Woman After Total Abdominal Hysterectomy With Bilateral Salpingo-Oophorectomy: A Case Report.","authors":"Ania Mezouari, Yaritza Gonzalez Ruiz, Anthony Serici, Virginia Fernandez, Guido Santacana-Laffitte, Vangie Texidor","doi":"10.1155/crip/2301344","DOIUrl":"10.1155/crip/2301344","url":null,"abstract":"<p><strong>Background: </strong>Uterine smooth muscle tumors of uncertain malignant potential (STUMPs) are uncommon uterine neoplasms representing 1%-2% of uterine smooth muscle tumors. Recurrence after hysterectomy in postmenopausal patients has rarely been reported. Molecular alterations associated with recurrence remain poorly characterized. Methylthioadenosine phosphorylase (MTAP) deficiency has been described in sarcomas, but its role in STUMP remains poorly characterized.</p><p><strong>Case presentation: </strong>A 61-year-old postmenopausal woman developed multifocal extrauterine recurrence affecting the rectus abdominis, vaginal cuff, peritoneum, small bowel, and abdominal wall 18 months after total abdominal hysterectomy with bilateral salpingo-oophorectomy (TAH-BSO) for presumed leiomyomas. The cumulative clinicopathologic findings were considered most consistent with recurrent STUMP, with one lesion exhibiting loss of MTAP expression. Retrospective review of the original hysterectomy specimen revealed previously unrecognized STUMP features, highlighting the diagnostic challenges at initial presentation.</p><p><strong>Conclusion: </strong>This case presents an unusual multifocal recurrence of STUMP following hysterectomy in a postmenopausal patient and reinforces the importance of long-term surveillance, even after definitive surgical management. Focal MTAP loss was identified in one recurrent lesion and should be interpreted cautiously as a descriptive, hypothesis-generating finding.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"2301344"},"PeriodicalIF":0.4,"publicationDate":"2026-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13392516/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148580498","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}
Ilham Putra, Tanishq Vashisht, Atousa Ordobazari, Aram Vosoughi
{"title":"Multifocal Low-Grade Oncocytic Tumor of the Kidney Associated With Germline <i>TSC1</i> Alteration: Case Report and Literature Review.","authors":"Ilham Putra, Tanishq Vashisht, Atousa Ordobazari, Aram Vosoughi","doi":"10.1155/crip/4811653","DOIUrl":"10.1155/crip/4811653","url":null,"abstract":"<p><p>Low-grade oncocytic tumor (LOT) of the kidney is a rare, indolent neoplasm within the spectrum of eosinophilic renal tumors. It typically presents as a small, solitary mass and is associated with molecular alterations in <i>TSC1</i>, <i>TSC2</i>, or <i>MTOR</i>. We describe a 72-year-old male with a history of pancreatic neuroendocrine tumor, gastrointestinal stromal tumor, and prostate cancer who presented with multiple bilateral renal masses. Partial nephrectomy revealed two distinct tumors: one consistent with LOT and the other with a sclerosing angiomyolipoma (AML). The LOT consisted of oncocytic cells with round to oval nuclei and delicate perinuclear halos, arranged predominantly in solid architecture, and immunoreactive for PAX8, EMA, and CK7, whereas negative for CD117 and AMACR. The AML was composed of spindle and epithelioid cells embedded in sclerotic stroma, positive for MiTF and SMA, and negative for conventional melanocytic markers, including HMB45 and Melan-A. Germline testing identified a <i>TSC1</i> intron 6, c.509-15G > A variant of uncertain significance. Somatic analysis showed increased allelic imbalance at the <i>TSC1</i> locus, suggesting loss of heterozygosity and a potential pathogenic role. This case adds to the limited reports of multifocal LOT and demonstrates the consistent association of germline <i>TSC1</i> alterations with this rare tumor presentation.</p>","PeriodicalId":45638,"journal":{"name":"Case Reports in Pathology","volume":"2026 ","pages":"4811653"},"PeriodicalIF":0.4,"publicationDate":"2026-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13373692/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148473420","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}