Medicine
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Review Case Reports
Concurrent EGFR mutation and SMARCA4 deficiency in non-small cell lung cancer: A case report and literature review.
SMARCA4-deficient non-small cell lung cancer (NSCLC) represents a highly aggressive subtype with poor prognosis. While clinical studies have identified common co-mutations in TP53, LRP1B, STK11, KEAP1, and KRAS, actionable driver mutations such as EGFR or ALK are rarely reported in conjunction with SMARCA4 deficiency. This case presents a rare instance of NSCLC featuring both an EGFR exon 21 L858R mutation and SMARCA4 deficiency, highlighting the challenges in treatment and the need for novel therapeutic strategies. ⋯ This case underscores the transient efficacy of targeted therapy in SMARCA4-deficient NSCLC with concurrent EGFR mutations. It highlights the need for continuous therapeutic adjustments and emphasizes the importance of further research into effective strategies for treating this complex and challenging subset of NSCLC, as current modalities have limitations in sustained efficacy.
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Review Case Reports
Primary bilateral macronodular adrenal hyperplasia: A rare case report of Cushing syndrome and review of literature.
Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing syndrome (CS), accounting for <2% of CS cases. Diagnosing PBMAH can be difficult and challenging for clinicians. ⋯ This patient is a case of PBMAH who presented with fever and CS symptoms and underwent unilateral adrenalectomy. Interestingly, she had suppressed cortisol levels for at least 1 year after the unilateral adrenalectomy. Therefore, we suggest further research on the most effective treatment strategies for PBMAH.
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Review Case Reports
Skin metastasis of BRCA mutated prostate cancer: A case report and a brief review of literature.
Metastatic castration-resistant prostate cancer has a poor prognosis especially when harboring DNA damage repair gene mutations, nevertheless, in the case of pathogenic BRCA gene mutations, PARPi demonstrated a survival benefit and is a validated treatment. Nowadays, there is no data regarding unusual metastases after these drugs. Cutaneous metastases appear rarely in prostate cancer and were associated with a worse prognosis. Moreover, there are no consolidated data concerning skin tropism of prostate cancer cells, neither in the case of BRCA-associated cancers. ⋯ A literature review of all reported cases of cutaneous metastasis in prostate cancer was conducted to shed light on the incidence, clinical presentation, diagnosis, treatment, and prognosis of this entity. We also reviewed published cases of skin metastasis in BRCA-associated cancers with an effort to correlate skin involvement with PARPi treatment, BRCAness status, and prognosis.
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Review Case Reports
Pregnancy-associated triple-negative breast cancer: A case report and literature review.
The incidence of pregnancy-associated breast cancer (PABC) is relatively low, but it has been increasing in recent years. The onset of PABC causes serious harm to the fetus and the mother due to the unique physiological characteristics of pregnancy, which poses a particular challenge to clinicians. This article reports a case of pregnancy-associated triple-negative breast cancer and describes the patient characteristics and systematic treatment of this type of breast cancer. ⋯ Clinicians need more research into the diagnosis, treatment and prognosis of PABC. Improving the rate of early diagnosis and using standardized and individualized comprehensive treatment plans will minimize fetal damage and improve survival and quality of life for patients.
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Meta Analysis
Study on serum vitamin A level in patients with type 1 diabetes: A systematic review and meta-analysis.
There is controversy about the relationship between type 1 diabetes and vitamin A (VA) levels in the body. Through meta-analysis, the results of related studies can be aggregated to more accurately estimate the relationship between type 1 diabetes mellitus (T1DM) patients and the level of VA in the body. ⋯ Serum VA levels seem to have decreased in T1DM patients. Further research is needed to strengthen this finding and clarify possible impact mechanisms.