ABSTRACT
RATIONALE: Breast low-grade adenosquamous carcinoma is an uncommon cancer that has been neglected in genetic and pathophysiological research. Consequently, medical practitioners face challenges in the effective diagnosis and treatment of this condition. PATIENT CONCERNS: We present the case of a 57-year-old Asian female patient who presented with bilateral breast masses on physical examination. Ultrasound and an MRI revealed a highly suspicious malignant mass in her right breast that was completely removed surgically. DIAGNOSES: After pathological analysis, the diagnosis was low-grade adenosquamous carcinoma with local high-grade transformation, and some of the tumor components were estrogen receptor positive. INTERVENTIONS: The patient underwent appropriate postoperative chemotherapy and achieved a favorable outcome. OUTCOMES: During the follow-up period after surgical resection, the patient did not experience any local recurrence or distant metastasis. LESSONS: Owing to the rare combination of estrogen receptor positivity and high-grade progression, this patient also required adjuvant chemotherapy. This enhances the essential foundation for diagnosing and treating this rare disease, and facilitates the implementation of treatment plans.
Subject(s)
Breast Neoplasms , Carcinoma, Adenosquamous , Receptors, Estrogen , Humans , Female , Middle Aged , Carcinoma, Adenosquamous/pathology , Carcinoma, Adenosquamous/genetics , Breast Neoplasms/pathology , Receptors, Estrogen/metabolism , Disease Progression , Neoplasm GradingABSTRACT
This report aims to shed light on the intricate challenges encountered during the diagnosis and treatment of an uncommon variant of prostate cancer-mixed adenosquamous cell carcinoma of the prostate. Prostate cancers of this nature pose distinctive diagnostic and therapeutic dilemmas due to their rarity and complex histological composition. We present a case of a 63-year-old man with metastatic prostate cancer, featuring adenocarcinoma with squamous cell differentiation, who underwent a multimodal treatment approach. The patient responded to first-line carboplatin, docetaxel, and androgen deprivation therapy, followed by androgen receptor pathway inhibitor (ARPI) maintenance. However, disease progression led to radiation therapy and a subsequent switch to Lutetium (177Lu) vipivotide tetraxetan after chemotherapy challenges. Comprehensive genetic profiling revealed shared mutations in the prostate and liver lesions, emphasizing the role of targeted therapies. Prostate-specific membrane antigen (PSMA)-targeted therapy resulted in a notable PSA decline. This case highlights the evolving treatment landscape for rare prostate cancers, integrating genetic insights for tailored interventions. In conclusion, squamous cell carcinoma (SCC) of the prostate is rare, emphasizing the imperative for enhanced comprehension in diagnosis and management. Our case suggests the potential efficacy of ARPI and PSMA-targeted therapies. Our findings advocate for a more nuanced approach to the management of this rare prostate cancer variant, leveraging genomic insights for personalized treatment strategies. This exploration serves as a foundation for further research and clinical considerations in addressing the challenges posed by mixed adenosquamous cell carcinoma of the prostate.
Subject(s)
Carcinoma, Adenosquamous , Liver Neoplasms , Prostatic Neoplasms , Humans , Male , Liver Neoplasms/secondary , Middle Aged , Prostatic Neoplasms/genetics , Prostatic Neoplasms/pathology , Carcinoma, Adenosquamous/genetics , Carcinoma, Adenosquamous/pathology , Carcinoma, Adenosquamous/drug therapy , Carcinoma, Adenosquamous/secondaryABSTRACT
The analysis of gene expression quantification data is a powerful and widely used approach in cancer research. This work provides new insights into the transcriptomic changes that occur in healthy uterine tissue compared to those in cancerous tissues and explores the differences associated with uterine cancer localizations and histological subtypes. To achieve this, RNA-Seq data from the TCGA database were preprocessed and analyzed using the KnowSeq package. Firstly, a kNN model was applied to classify uterine cervix cancer, uterine corpus cancer, and healthy uterine samples. Through variable selection, a three-gene signature was identified (VWCE, CLDN15, ADCYAP1R1), achieving consistent 100% test accuracy across 20 repetitions of a 5-fold cross-validation. A supplementary similar analysis using miRNA-Seq data from the same samples identified an optimal two-gene miRNA-coding signature potentially regulating the three-gene signature previously mentioned, which attained optimal classification performance with an 82% F1-macro score. Subsequently, a kNN model was implemented for the classification of cervical cancer samples into their two main histological subtypes (adenocarcinoma and squamous cell carcinoma). A uni-gene signature (ICA1L) was identified, achieving 100% test accuracy through 20 repetitions of a 5-fold cross-validation and externally validated through the CGCI program. Finally, an examination of six cervical adenosquamous carcinoma (mixed) samples revealed a pattern where the gene expression value in the mixed class aligned closer to the histological subtype with lower expression, prompting a reconsideration of the diagnosis for these mixed samples. In summary, this study provides valuable insights into the molecular mechanisms of uterine cervix and corpus cancers. The newly identified gene signatures demonstrate robust predictive capabilities, guiding future research in cancer diagnosis and treatment methodologies.
Subject(s)
Carcinoma, Adenosquamous , Carcinoma, Squamous Cell , MicroRNAs , Uterine Cervical Neoplasms , Female , Humans , Uterine Cervical Neoplasms/genetics , Uterine Cervical Neoplasms/metabolism , Carcinoma, Squamous Cell/pathology , Gene Expression Profiling , Carcinoma, Adenosquamous/genetics , Carcinoma, Adenosquamous/pathology , MicroRNAs/geneticsABSTRACT
BACKGROUND: Adenosquamous carcinoma is a rare sub-type of colorectal cancer with a poor prognosis. Little is known about its clinicopathological and molecular characteristics in Asian populations. This study aimed to investigate these features in a cohort of patients with adenosquamous carcinoma in the colorectum. METHODS: Tumor cases pathologically diagnosed with colorectal adenosquamous carcinoma were retrieved from the Sixth Affiliated Hospital, Sun Yat-sen University tissue archive between December 2012 and June 2020. Clinicopathological features, molecular characteristics, and oncology outcomes were analyzed. RESULTS: Among 18,139 cases of colorectal cancer, 11 were diagnosed with adenosquamous carcinoma, providing an incidence rate of 0.061%. The median overall survival (OS) was 14 months, and the expected 3-year OS rate was 29.6%. As of October 14, 2022, four cases had local recurrence and five had distant metastasis. KRAS gene mutations were found in four of seven patients (57.1%), and three out of eleven (27.3%) patients had mismatch repair-deficient (dMMR) tumors. CONCLUSIONS: Adenosquamous carcinoma is associated with a poor prognosis. Compared to other sub-types of colorectal cancer, a higher proportion of patients with dMMR and KRAS mutations were observed. These findings suggested that more patients with adenosquamous carcinoma could benefit from targeted therapies, such as immunotherapy.
Subject(s)
Brain Neoplasms , Carcinoma, Adenosquamous , Colorectal Neoplasms , Neoplastic Syndromes, Hereditary , Humans , Carcinoma, Adenosquamous/genetics , Carcinoma, Adenosquamous/pathology , Prognosis , Proto-Oncogene Proteins p21(ras)/genetics , Colorectal Neoplasms/pathology , Retrospective StudiesABSTRACT
RATIONALE: Radical surgery offers the best chance of cure, it is critical to expand surgery opportunities for patients with early-stage lung cancer to prolong overall survival. However, evidence is still limited regarding the application of neoadjuvant therapy with EGFR-tyrosine kinase. PATIENT: The patient reported here was a 53-year-old woman with right lower lung adenosquamous carcinoma. DIAGNOSES: The lung cancer was staged as T3N1M0. Tumor genotype disclosed EGFR Exon19 c.2235-2249de p.E746-A750del. INTERVENTION: After neoadjuvant treatment with icotinib, she underwent thoracotomy and achieved pathological complete response. OUTCOMES: She is currently receiving adjuvant icotinib therapy without recurrence or metastasis during 18-month follow-up. LESSONS: Our case indicated that the feasibility of neoadjuvant icotinib in EGFR-mutant lung adenosquamous carcinoma.