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Journal of Surgical Case Reports Jun 2024During breast cancer recurrence, drug therapy is planned based on the biological characteristics of the primary tumor. However, the mechanisms underlying these changes...
During breast cancer recurrence, drug therapy is planned based on the biological characteristics of the primary tumor. However, the mechanisms underlying these changes have not yet been clarified. A 59-year-old woman underwent breast cancer surgery 23 years previously and received postoperative hormone therapy for 2 years. She had abdominal distention and ascites effusion and was diagnosed with carcinomatous peritonitis due to luminal-type breast cancer after ascites puncture. She received up to the fourth line of treatment. Subsequently, pleural effusion was observed and human epidermal growth factor receptor 2 type breast cancer was diagnosed because of pleurodesis. This case suggests that the cell block diagnostic method based on thoracic and ascites fluid cytology is useful not only for confirming the primary tumor but also for diagnosing the biological characteristics of breast cancer. In the treatment of breast cancer recurrence, it is important to plan the treatment, including aggressive re-biopsy of metastases.
PubMed: 38947869
DOI: 10.1093/jscr/rjae432 -
Cancer Innovation Jun 2024Pulmonary sarcomatoid carcinoma (PSC) is a rare and aggressive subtype of non-small cell lung cancer (NSCLC), characterized by the presence of epithelial and...
Integrative genomic and transcriptomic profiling of pulmonary sarcomatoid carcinoma identifies molecular subtypes associated with distinct immune features and clinical outcomes.
BACKGROUND
Pulmonary sarcomatoid carcinoma (PSC) is a rare and aggressive subtype of non-small cell lung cancer (NSCLC), characterized by the presence of epithelial and sarcoma-like components. The molecular and immune landscape of PSC has not been well defined.
METHODS
Multiomics profiling of 21 pairs of PSCs with matched normal lung tissues was performed through targeted high-depth DNA panel, whole-exome, and RNA sequencing. We describe molecular and immune features that define subgroups of PSC with disparate genomic and immunogenic features as well as distinct clinical outcomes.
RESULTS
In total, 27 canonical cancer gene mutations were identified, with the most frequently mutated gene, followed by . Interestingly, most and KRAS mutations were earlier genomic events mapped to the trunks of the tumors, suggesting branching evolution in most PSC tumors. We identified two distinct molecular subtypes of PSC, driven primarily by immune infiltration and signaling. The Immune High (IM-H) subtype was associated with superior survival, highlighting the impact of immune infiltration on the biological and clinical features of localized PSCs.
CONCLUSIONS
We provided detailed insight into the mutational landscape of PSC and identified two molecular subtypes associated with prognosis. IM-H tumors were associated with favorable recurrence-free survival and overall survival, highlighting the importance of tumor immune infiltration in the biological and clinical features of PSCs.
PubMed: 38947760
DOI: 10.1002/cai2.112 -
Cureus May 2024Undifferentiated pleomorphic sarcoma (UPS), formerly known as malignant fibrous histiocytoma (MFH), constitutes a significant subset of soft-tissue sarcomas. Despite its...
Undifferentiated pleomorphic sarcoma (UPS), formerly known as malignant fibrous histiocytoma (MFH), constitutes a significant subset of soft-tissue sarcomas. Despite its rarity, UPS poses substantial clinical challenges due to its aggressive behavior and propensity for distant metastasis. Here, we report a rare case of high-grade UPS located in the colon, a site exceptionally uncommon for this malignancy, in a 49-year-old woman. The case also underscores the importance of considering UPS in the differential diagnosis of colonic neoplasms. Understanding the clinical and pathological features of UPS in unusual locations like the large intestine is crucial for timely diagnosis and appropriate management strategies.
PubMed: 38947723
DOI: 10.7759/cureus.61346 -
Cureus May 2024Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a recently described rare and aggressive malignancy characterized by undifferentiated cell morphology...
Thoracic SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a recently described rare and aggressive malignancy characterized by undifferentiated cell morphology and the loss of the Brahma-related gene 1 (BRG1) protein. Its pathogenesis involves mutational loss of SMARCA4 gene expression, which encodes the BRG1 protein that serves as one of the catalytic subunits of the SWItch/Sucrose Non-Fermentable (SWI/SNF) chromatin remodeling complex. This malignancy of the thorax predominantly affects middle-aged male smokers and commonly metastasizes to lymph nodes, bones, adrenal glands, liver, gastrointestinal tract, central nervous system, and kidney. Cases of brain metastasis have been reported but are less common. We report a case of this tumor initially presenting with diffuse brain metastasis in a 55-year-old male with a significant smoking history. We reviewed the current literature on the diagnostic and therapeutic challenges posed by this highly aggressive thoracic tumor.
PubMed: 38947666
DOI: 10.7759/cureus.61367 -
Cureus May 2024The hobnail variant of papillary thyroid carcinoma (HVPTC) represents a distinctive and relatively rare histological subtype of thyroid malignancies. This variant is...
The hobnail variant of papillary thyroid carcinoma (HVPTC) represents a distinctive and relatively rare histological subtype of thyroid malignancies. This variant is characterized by its unique cellular morphology with a hobnail appearance, that is, cells with apically positioned nuclei. There are other characteristics like micropapillary pattern and loss of cohesiveness of cells, which are indicative of HVPTC. It can be difficult to distinguish this pattern from other thyroid neoplasms; thus, a thorough microscopical examination is required. Thyroglobulin, thyroid transcription factor-1 (TTF-1), and other thyroid markers are commonly expressed by the tumor cells. Clinically, HVPTC is similar to conventional papillary thyroid cancer (PTC) in many aspects like incidence and epidemiology, but the former is associated with a worse prognosis. According to some research, the hobnail variety might behave more aggressively than conventional PTC, which highlights how crucial it is to identify and comprehend this distinct subtype. While the genetic and molecular underpinnings of HVPTC are still being elucidated, some studies have reported associations with specific genetic alterations, including BRAF, TP53, and TERT mutations. Investigating these molecular signatures may contribute to a better understanding of the variant's pathogenesis and potentially guide targeted therapeutic approaches in the future. In order to customize treatment plans, histopathology is essential in correctly diagnosing it. In this article, we present a case of PTC which presented as a solitary nodule on ultrasonogram in a 40-year-old female.
PubMed: 38947607
DOI: 10.7759/cureus.61267 -
Cureus May 2024Background Dentigerous cysts (DC) form due to fluid accumulation between the crown of the tooth and the reduced enamel epithelium. Due to the diverse clinical...
Background Dentigerous cysts (DC) form due to fluid accumulation between the crown of the tooth and the reduced enamel epithelium. Due to the diverse clinical characteristics, such as ambiguity concerning their biological origins and the significance of timely diagnosis and detection of these lesions, researchers are presently motivated to undertake further investigations. The aim of the present study was to assess the amount of serum alpha-tocopherol in patients with DC and compare it with that of normal, healthy individuals. Methods A total sample size of n=34 was included in the current study. Group A, designated as the control group, comprised 17 randomly selected healthy subjects, while Group B, the DC diagnostic group, consisted of 17 patients. Blood samples were collected, and the concentration of vitamin E or alpha-tocopherol was evaluated and expressed in mg/mL. Results Compared to the mean vitamin E level in healthy controls (12.08 ± 1.92 mg/mL), patients with DC showed a statistically significant (p<0.0001) reduction in mean vitamin E levels (5.29 ± 1.01 mg/mL). Conclusion Patients with DC have lower levels of vitamin E than healthy individuals. The reduced concentration of vitamin E can have a role in the extension of cystic volume and thus have an impact on the aggressiveness of pathologic lesions. The therapeutic benefits of vitamin E supplementation in reducing the aggressiveness of DC should be evaluated in future research.
PubMed: 38947582
DOI: 10.7759/cureus.61359 -
Heliyon Jun 2024Colchicine is a common therapeutic agent for inflammatory conditions such as gout, yet its narrow therapeutic range frequently results in cases of overdose and...
BACKGROUND
Colchicine is a common therapeutic agent for inflammatory conditions such as gout, yet its narrow therapeutic range frequently results in cases of overdose and subsequent poisoning. Acute colchicine poisoning can be difficult to identify due to its nonspecific clinical manifestations, posing a diagnostic challenge for emergency physicians without a clear history of colchicine ingestion.
CASE PRESENTATION
This report describes a tragic case of acute colchicine poisoning that resulted in three familial homicides. The patients presented with fever, abdominal pain, and diarrhea, which rapidly escalated to shock during their emergency department visits. Laboratory tests revealed a marked leukocytosis, mild elevation in procalcitonin (PCT), significantly elevated creatine kinase (CK) and CK-MB levels, and liver function abnormalities. Despite treatment with carbapenem antibiotics and aggressive fluid resuscitation, the patients' condition deteriorated, marked by a progressive decline in leukocytes and neutrophils. Initially misdiagnosed as septic shock, the ineffectiveness of the standard treatment protocols led to a fatal outcome for all three individuals.
CONCLUSION
Emergency physicians should consider acute colchicine poisoning as a differential diagnosis in patients presenting with shock and the following clinical indicators: (1) pronounced increase in peripheral leukocytes with a disproportionate rise in neutrophils; (2) discordance between the level of serum procalcitonin and the severity of presumed septic shock; (3) early increase in serum creatine kinase (CK) and CK-MB; (4) poor response to antibiotics and resuscitative efforts, accompanied by a continuous decrease in white blood cells and neutrophils. This case underscores the critical need for awareness of colchicine toxicity in the emergency setting, particularly when the clinical presentation mimics septic shock but fails to respond to standard treatments.
PubMed: 38947441
DOI: 10.1016/j.heliyon.2024.e32407 -
Frontiers in Medicine 2024Necrotizing fasciitis is an aggressive bacterial infection that causes necrosis of the fascia and subcutaneous tissues with rapid progression and high mortality. Early...
Necrotizing fasciitis is an aggressive bacterial infection that causes necrosis of the fascia and subcutaneous tissues with rapid progression and high mortality. Early stages often lead to misdiagnosis, resulting in improper treatment and severe implications. This case study presents a patient with diabetes mellitus combined with hepatitis B who rapidly developed necrotizing fasciitis of the left forearm and left breast after trauma and controlled the infection with early surgical treatment. It is worth noting that early surgical exploration is the gold standard for the diagnosis of necrotizing fasciitis and is the most effective means of reducing mortality and amputation rates in necrotizing fasciitis.
PubMed: 38947243
DOI: 10.3389/fmed.2024.1413593 -
Journal of Blood Medicine 2024Primary cranial neurolymphomatosis (PCNL) is a rare subtype of primary CNS lymphoma (PCNSL) in which infiltrative lymphomatous involvement is confined to cranial nerves....
Primary cranial neurolymphomatosis (PCNL) is a rare subtype of primary CNS lymphoma (PCNSL) in which infiltrative lymphomatous involvement is confined to cranial nerves. Here, we report a case of PCNL with successful genomic profiling. A 57-year-old male had a lengthy prediagnostic phase spanning approximately 30 months, characterized by multiple episodes of cranial neuropathies managed by steroids. At the time of diagnosis, the patient had right-sided cranial neuropathies involving cranial nerves (CN) V, VI, and VII. Pathological findings of the right cavernous lesion biopsy were consistent with large B-cell lymphoma-infiltrating nerve fibers. The clinical course was aggressive and refractory, characterized by relentless progression with the development of cervical spinal neurolymphomatosis, cerebrospinal fluid involvement, and ependymal and intraparenchymal cerebral involvement, despite multiple lines of therapy, including chemoimmunotherapy, Bruton's tyrosine kinase inhibitor, radiation, autologous stem cell transplant, chimeric antigen receptor T-cell therapy (CAR-T), and whole-brain radiation. The patient survived for 22 months from the time of the initial diagnosis and 52 months after the first episode of cranial neuropathy. Next-generation sequencing identified mutations (MYD88, CD79b, and PIM1) that are frequently observed in PCNSL. The unusual findings included a total of 22 mutations involving PIM1, indicating a highly active aberrant somatic hypermutation and two missense CXCR4 mutations. CXCR4 mutations have never been described in PCNSL and may have implications for disease biology and therapeutic interventions. We provide a literature review to further elucidate PCNL.
PubMed: 38947230
DOI: 10.2147/JBM.S459123 -
Frontiers in Psychiatry 2024Forensic psychiatric patients receive treatment to address their violent and aggressive behavior with the aim of facilitating their safe reintegration into society. On...
INTRODUCTION
Forensic psychiatric patients receive treatment to address their violent and aggressive behavior with the aim of facilitating their safe reintegration into society. On average, these treatments are effective, but the magnitude of effect sizes tends to be small, even when considering more recent advancements in digital mental health innovations. Recent research indicates that wearable technology has positive effects on the physical and mental health of the general population, and may thus also be of use in forensic psychiatry, both for patients and staff members. Several applications and use cases of wearable technology hold promise, particularly for patients with mild intellectual disability or borderline intellectual functioning, as these devices are thought to be user-friendly and provide continuous daily feedback.
METHOD
In the current randomized crossover trial, we addressed several limitations from previous research and compared the (continuous) usability and acceptance of four selected wearable devices. Each device was worn for one week by staff members and patients, amounting to a total of four weeks. Two of the devices were general purpose fitness trackers, while the other two devices used custom made applications designed for bio-cueing and for providing insights into physiological reactivity to daily stressors and events.
RESULTS
Our findings indicated significant differences in usability, acceptance and continuous use between devices. The highest usability scores were obtained for the two fitness trackers (Fitbit and Garmin) compared to the two devices employing custom made applications (Sense-IT and E4 dashboard). The results showed similar outcomes for patients and staff members.
DISCUSSION
None of the devices obtained usability scores that would justify recommendation for future use considering international standards; a finding that raises concerns about the adaptation and uptake of wearable technology in the context of forensic psychiatry. We suggest that improvements in gamification and motivational aspects of wearable technology might be helpful to tackle several challenges related to wearable technology.
PubMed: 38947186
DOI: 10.3389/fpsyt.2024.1330993