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The American Journal of Surgical... May 2024The diagnosis of solid pseudopapillary neoplasm of the pancreas (SPN) can be challenging due to potential confusion with other pancreatic neoplasms, particularly...
The diagnosis of solid pseudopapillary neoplasm of the pancreas (SPN) can be challenging due to potential confusion with other pancreatic neoplasms, particularly pancreatic neuroendocrine tumors (NETs), using current pathological diagnostic markers. We conducted a comprehensive analysis of bulk RNA sequencing data from SPNs, NETs, and normal pancreas, followed by experimental validation. This analysis revealed an increased accumulation of peroxisomes in SPNs. Moreover, we observed significant upregulation of the peroxisome marker ABCD1 in both primary and metastatic SPN samples compared with normal pancreas and NETs. To further investigate the potential utility of ABCD1 as a diagnostic marker for SPN via immunohistochemistry staining, we conducted verification in a large-scale patient cohort with pancreatic tumors, including 127 SPN (111 primary, 16 metastatic samples), 108 NET (98 nonfunctional pancreatic neuroendocrine tumor, NF-NET, and 10 functional pancreatic neuroendocrine tumor, F-NET), 9 acinar cell carcinoma (ACC), 3 pancreatoblastoma (PB), 54 pancreatic ductal adenocarcinoma (PDAC), 20 pancreatic serous cystadenoma (SCA), 19 pancreatic mucinous cystadenoma (MCA), 12 pancreatic ductal intraepithelial neoplasia (PanIN) and 5 intraductal papillary mucinous neoplasm (IPMN) samples. Our results indicate that ABCD1 holds promise as an easily applicable diagnostic marker with exceptional efficacy (AUC=0.999, sensitivity=99.10%, specificity=100%) for differentiating SPN from NET and other pancreatic neoplasms through immunohistochemical staining.
Topics: Humans; Pancreatic Neoplasms; Pancreas; Carcinoma, Pancreatic Ductal; Neuroendocrine Tumors; Pancreatic Ducts; Biomarkers, Tumor; ATP Binding Cassette Transporter, Subfamily D, Member 1
PubMed: 38567813
DOI: 10.1097/PAS.0000000000002205 -
Ecancermedicalscience 2024The incidence of colorectal cancer (CRC) in sub-Saharan Africa (SSA) is rising, due to improving cancer registration efforts on one hand and an increasing westernisation...
BACKGROUND
The incidence of colorectal cancer (CRC) in sub-Saharan Africa (SSA) is rising, due to improving cancer registration efforts on one hand and an increasing westernisation of diets and lifestyle on the other as well as increasing rates of comorbidities.
METHODS
We present data for the clinical characteristics, pathology, treatments received, and survival outcomes of patients diagnosed with CRC at King Faisal Hospital (KFH) between January 2019 and May 2023. KFH is an urban tertiary hospital in Rwanda that provides chemotherapy and surgery to cancer patients. The data were extracted from electronic medical records, imaging and histopathology reports from the patient's time of diagnosis. We plotted Kaplan-Meier estimation of survival, defined as the time from presentation to death, within the study period (2019-2023).
RESULTS
Seventy-four patients diagnosed with CRC with complete information were identified in the KFH oncology records. The mean age at diagnosis was 54.6 years, with ages ranging between 22 and 81 years. At diagnosis, 24 (32.4%) patients were less than 50 years old and 29 (39.2%) were females. The rectum (36.5%) was the most common tumour location, and 58.1 tumours were left-sided. Most patients presented with Stage III (41.9%) or IV (35.1%) disease. Adenocarcinoma was the most common histological type (98.6%) including adenocarcinoma not otherwise specified (NOS) (86.5%), mucinous adenocarcinoma (10.8%), signet ring cell carcinoma (1.4%) and followed by squamous cell carcinoma (1.4%). In terms of treatment, 19 (25.7%) patients received only chemotherapy, 43 (58.1%) patients received neo-adjuvant or adjuvant chemotherapy, 9 (12.2%) of patients received both neo-adjuvant and adjuvant chemotherapy, 49 patients (66.2%) underwent surgery and 17 (23%) patients also received radiation. At the end of the follow up period, 63 (85.1%) patients remained in surveillance, 10 (13.5%) patients died, and 1 (1.3%) patient was lost to follow up. Mean overall survival was 45.5 (SD ± 2.0) months.
CONCLUSION
CRC patients presented at an advanced stage and required complex treatment regimens at KFH. Further epidemiologic and molecular research is needed to characterise CRC incidence and presentation at a national level in Rwanda as increasing westernisation continues to change the face of CRC in urban areas of SSA.
PubMed: 38566760
DOI: 10.3332/ecancer.2024.1687 -
HCA Healthcare Journal of Medicine 2024Primary mucinous carcinoma of the thyroid is an exceedingly rare malignancy that is histologically similar to mucinous carcinoma of other sites. Accurate diagnosis is a...
INTRODUCTION
Primary mucinous carcinoma of the thyroid is an exceedingly rare malignancy that is histologically similar to mucinous carcinoma of other sites. Accurate diagnosis is a challenging yet crucial component of clinical management for both patients and our understanding of this rare disease.
CASE PRESENTATION
We report the case of a 69-year-old male patient with primary mucinous carcinoma of the thyroid. Microscopic examination of a biopsy specimen showed fibrous tissue, which was extensively and irregularly infiltrated by a cytologically malignant epithelial neoplasm showing glandular differentiation with mucin production. Immunohistochemistry demonstrated that tumor cells were positive for TTF1, thyroglobulin, CK7, and PAX8. Co-expression of TTF1 and PAX8 is most commonly seen in thyroid tumors. These findings support our diagnosis of mucinous carcinoma of thyroid origin, which is rare and highly aggressive.
CONCLUSION
In this report, we present the only documented case of primary mucinous carcinoma of the thyroid reported in the United States in the last decade. The diagnosis of primary mucinous carcinoma of the thyroid can be challenging. Therefore, we discuss and detail the clinicopathologic tumor profile and provide more current, detailed histological criteria to assist in the diagnosis of this rare disease.
PubMed: 38560396
DOI: 10.36518/2689-0216.1570 -
Current Health Sciences Journal 2023One of the molecular routes of colorectal carcinogenesis is the lack of mismatch repair (MMR) proteins, which may have substantial clinical consequences in predicting...
One of the molecular routes of colorectal carcinogenesis is the lack of mismatch repair (MMR) proteins, which may have substantial clinical consequences in predicting therapy success. This study aimed to analyze the expression of the MutL homolog 1 (MLH1), MutS homolog 2 (MSH2), and MutS homolog 6 (MSH6) in a cohort of 91 colorectal cancer (CRC) patients, and to evaluate the relationship between patient clinicopathological characteristics and immunoexpression of these biomarkers. In this study, we obtained the highest scores of the MLH1 immunoexpression in non-mucinous tumors, moderately differentiated lesions, and in stage IV. The highest values of the MSH2 and MSH6 scores were observed in mucinous tumors, and poorly differentiated lesions, in stages II-III, and stages III-IV, respectively. To improve the stratification criteria for targeted oncological therapy and to predict patient outcomes, markers used may help evaluate the aggressiveness of lesions.
PubMed: 38559829
DOI: 10.12865/CHSJ.49.04.11 -
Cureus Mar 2024Colorectal carcinoma (CRC) represents the third most common cancer and the second highest cause of cancer-related death in the United States. CRC is particularly...
Colorectal carcinoma (CRC) represents the third most common cancer and the second highest cause of cancer-related death in the United States. CRC is particularly prevalent in patients with underlying inflammatory bowel disease. Adenocarcinoma represents more than 90% of new CRC diagnoses. The mucinous subtype of colorectal adenocarcinoma is found in approximately 10-20% of all colorectal cancer patients and is most frequently located in the proximal colon. We report a case of mucinous adenocarcinoma arising from the rectal stump of a patient who had previously undergone subtotal-colectomy with end ileostomy for Crohn's disease. She initially presented with gradually worsening chronic abdominal pain and gelatinous rectal discharge. She was found to have a complex cystic lesion communicating with her Hartman's pouch. She ultimately underwent a completion proctectomy, radical hysterectomy, and bilateral salpingo-oophorectomy in conjunction with gynecology oncology. To the best of our knowledge, this case represents the first description of a perirectal mucinous adenocarcinoma arising in a patient after subtotal-colectomy for Crohn's disease.
PubMed: 38559545
DOI: 10.7759/cureus.55305 -
Journal of Cancer Research and... Jan 2024Gallbladder cancer (GBC) is usually diagnosed in advanced stages with poor survival. The molecular mechanisms of GBC still remain unexplored. Several angiogenesis...
AIM
Gallbladder cancer (GBC) is usually diagnosed in advanced stages with poor survival. The molecular mechanisms of GBC still remain unexplored. Several angiogenesis factors play a pivotal role in tumor progression. We aimed to study the expression of VEGF, PDGF-B, and human epidermal growth factor receptor 2 (HER2/neu) and its association with clinicopathological features and survival in GBC.
MATERIALS AND METHODS
VEGF, PDGF-B, and HER2/neu expression was studied by immunohistochemistry (IHC) after histological evaluation in 91 GBC cases. The relationship between these markers and clinicopathological features and survival was explained through the Cox regression model and Kaplan-Meier method.
RESULTS
VEGF, PDGF-B, and HER2/neu overexpressed in 45, 79, and 68% GBC cases, respectively. VEGF was significantly overexpressed in GBC without gall stones (GS) (p = 0.007) and with moderately and poorly differentiated tumors (p = 0.012). HER2/neu was significantly overexpressed in GBC with GS (p = 0.022). Median overall survival (OS) was 39 months (95% CI: 23-55). In univariate analysis, histological type (adenocarcinoma and papillary) vs. others (signet ring/mucinous/adenosquamous) (p = 0.004), depth of tumor infiltration (p = 0.017), distant metastasis (p = 0.012), and adjuvant therapies (chemotherapy/radiotherapy) (p = 0.083) were associated with poor prognosis. Multivariate survival analysis showed histological type (p = 0.004) and distant metastasis (p = 0.032) to be independent prognostic factors for OS. Histological type (p = 0.002), distant metastasis (p = 0.003), and depth of tumor infiltration (T3-T4) (p = 0.012) showed poor median survival. Poor survival was seen in VEGF and HER2/neu positive cases.
CONCLUSION
Overexpression of VEGF, PDGF-B, and HER2/neu might be possible prognostic biomarkers in GBC. Poor survival of VEGF and HER2/neu positive cases indicates the possibilities of using their blockers as therapeutic agents.
Topics: Humans; Prognosis; Gallbladder Neoplasms; Vascular Endothelial Growth Factor A; Neoplasm Staging; Lymphatic Metastasis; Receptor, ErbB-2
PubMed: 38554345
DOI: 10.4103/jcrt.jcrt_1473_22 -
Nature Communications Mar 2024The existing Intraductal Papillary Mucinous Neoplasm (IPMN) risk stratification relies on clinical and histological factors, resulting in inaccuracies and leading to...
The existing Intraductal Papillary Mucinous Neoplasm (IPMN) risk stratification relies on clinical and histological factors, resulting in inaccuracies and leading to suboptimal treatment. This is due to the lack of appropriate molecular markers that can guide patients toward the best therapeutic options. Here, we assess and confirm subtype-specific markers for IPMN across two independent cohorts of patients using two Spatial Transcriptomics (ST) technologies. Specifically, we identify HOXB3 and ZNF117 as markers for Low-Grade Dysplasia, SPDEF and gastric neck cell markers in borderline cases, and NKX6-2 and gastric isthmus cell markers in High-Grade-Dysplasia Gastric IPMN, highlighting the role of TNFα and MYC activation in IPMN progression and the role of NKX6-2 in the specific Gastric IPMN progression. In conclusion, our work provides a step forward in understanding the gene expression landscapes of IPMN and the critical transcriptional networks related to PDAC progression.
Topics: Humans; Carcinoma, Pancreatic Ductal; Pancreatic Intraductal Neoplasms; Adenocarcinoma, Mucinous; Pancreatic Neoplasms; Hyperplasia; Homeodomain Proteins
PubMed: 38553466
DOI: 10.1038/s41467-024-46994-2 -
Clinical Case Reports Apr 2024A unique ER/PR-positive mucinous adenocarcinoma of breast but CK7/CK20 negativity. A rare finding of Lymphoplasmacytic Infiltration is noted. Successful treatment...
KEY CLINICAL MESSAGE
A unique ER/PR-positive mucinous adenocarcinoma of breast but CK7/CK20 negativity. A rare finding of Lymphoplasmacytic Infiltration is noted. Successful treatment included modified radical mastectomy and tamoxifen-based therapy, leads to remission.
ABSTRACT
Mucinous carcinoma, which is characterized by the presence of abundant extracellular mucin, is a rare and distinctive subtype of invasive breast cancer. This subtype accounts for less than 5% of all invasive breast cancers, with pure mucinous carcinoma representing only around 2%. It is most commonly found in older patients, typically in the sixth to early eighth decade of life. We present the case of a 55-year-old female with a 15-year history of a painless, gradually enlarging palpable lump on her left breast. Upon examination, a 5 × 5 cm lump with well-defined margins and a hard consistency was found in the lower outer quadrant of the left breast. Histopathological examination confirmed a diagnosis of Mucinous Adenocarcinoma of the Left Breast. The patient underwent modified radical mastectomy and received adjuvant endocrine therapy with tamoxifen due to hormone receptor-positive status. Mucinous carcinoma of the breast is a unique entity with specific histological features including the presence of extracellular mucin pools. Immunohistochemical staining is crucial for determining hormone receptor status, which can guide treatment decisions. Although surgical intervention is the primary approach, the extent of surgery may vary, ranging from lumpectomy to mastectomy. Adjuvant therapies such as chemotherapy and radiotherapy may also be considered based on individual cases. This case underscores the importance of a multidisciplinary approach in managing rare subtypes of breast cancer, such as mucinous carcinoma. Accurate diagnosis, appropriate surgical intervention, adjuvant therapy, and long-term follow-up are critical components of treatment.
PubMed: 38550744
DOI: 10.1002/ccr3.8560 -
Journal of Clinical Pathology Mar 2024To clarify claudin18.2 expression and its clinicopathological features in various cancers, especially in lung adenocarcinoma.
AIMS
To clarify claudin18.2 expression and its clinicopathological features in various cancers, especially in lung adenocarcinoma.
METHODS
Immunohistochemistry staining and fluorescence in situ hybridisation (FISH) were performed to detect claudin18.2 expression and gene rearrangement in adenocarcinoma from different organs.
RESULTS
The results showed that claudin18.2 expression was found in 68% (27 of 40) of lung mucinous adenocarcinoma, 52% (16 of 31) of cholangiocarcinoma, 2% (10 of 423) of colorectal adenocarcinoma tissue microarray, 27% (6 of 22) of colorectal mucinous adenocarcinoma and 30% (3 of 10) of cervical adenocarcinoma, but not in all 39 cases of invasive breast adenocarcinoma by immunohistochemistry staining. There was significantly positive correlation between ratio of claudin18.2-positive carcinoma cells and staining intensity in lung mucinous adenocarcinoma and cholangiocarcinoma. Claudin18.2 expression was much more in female patients than male patients with lung mucinous adenocarcinoma. In addition, cholangiocarcinoma with claudin18.2 expression was more aggressive and had perineural invasion. Intraductal papillary neoplasm of the bile duct and epithelial dysplasia of the adjacent bile in cholangiocarcinoma also showed claudin18.2 expression. All three cases of cervical adenocarcinoma with claudin18.2 expression were moderately differentiated adenocarcinoma including one human papillomavirus (HPV)-associated carcinoma, two non-HPV-associated and gastric-type carcinoma. gene rearrangement was not found in all 22 cases with high claudin18.2 expression by FISH.
CONCLUSIONS
Our results suggest claudin18.2 might be a potential biomarker for targeted therapy on lung mucinous adenocarcinoma, cholangiocarcinoma, colorectal mucinous adenocarcinoma and gastric-type cervical adenocarcinoma.
PubMed: 38548320
DOI: 10.1136/jcp-2023-209268 -
JPRAS Open Jun 2024Intestinal vaginoplasty can be performed as vaginal reconstruction procedure. Aa pedicled intestinal segment is isolated and transferred to the (neo)vaginal cavity to...
BACKGROUND
Intestinal vaginoplasty can be performed as vaginal reconstruction procedure. Aa pedicled intestinal segment is isolated and transferred to the (neo)vaginal cavity to form the neovaginal lining.
CASE
A 38-year old patient with Fanconi anemia and congenital vaginal absence, who underwent sigmoid vaginoplasty at the age of one, visited the outpatient clinic with a palpable neovaginal mass. At MRI examination, a neovaginal tumor was observed of approximately 25 × 10 mm without lymphadenopathy, which turned out to be a mucinous adenocarcinoma (T3N0M0). She underwent excision of the total mesocolon, including the sigmoid neovagina, coloanal anastomosis and anus.
SUMMARY AND CONCLUSION
Postoperative cancer surveillance seems justified after sigmoid vaginoplasty, even more so in patients with a (genetically) high risk of developing cancer and/or with a history of malignancy.
PubMed: 38544675
DOI: 10.1016/j.jpra.2024.03.002