Beyond the marrow: insights from comprehensive next-generation sequencing of extramedullary multiple myeloma tumors.

Extramedullary multiple myeloma (EMM) is an aggressive form of multiple myeloma (MM). This study represents the most comprehensive next-generation sequencing analysis of EMM tumors (N = 14) to date, uncovering key molecular features and describing the tumor microenvironment. We observed the co-occurrence of 1q21 gain/amplification and MAPK pathway mutations in 79% of EMM samples, suggesting that these are crucial mutational events in EMM development. We also demonstrated that patients with mutated KRAS and 1q21 gain/amplification at the time of diagnosis have a significantly higher risk of EMM development (HR = 2.4, p = 0.011) using data from a large CoMMpass dataset. We identified downregulation of CXCR4 and enhanced cell proliferation, along with reduced expression of therapeutic targets (CD38, SLAMF7, GPRC5D, FCRH5), potentially explaining diminished efficacy of immunotherapy. Conversely, we identified significantly upregulated EZH2 and CD70 as potential future therapeutic options. For the first time, we report on the tumor microenvironment of EMM, revealing CD8+ T cells and NK cells as predominant immune effector cells using single-cell sequencing. Finally, this is the first longitudinal study in EMM revealing the molecular changes from the time of diagnosis to EMM relapse.

Magnetic resonance imaging - evaluation of mesorectal lymphadenopathy in patients with rectal cancer.

INTRODUCTION: Multidisciplinary management of patients with rectal cancer presents a gold standard of care; neoadjuvant therapy indications are based on magnetic resonance imaging (MRI) description of the local stage of the carcinoma. Although the accuracy of MRI-based assessment of cancer depth of invasion is satisfactory, its accuracy in the assessment of mesorectal lymphadenopathy is very questionable. METHODS: This was a prospective, single-centre, cohort study focused on the accuracy of preoperative MRI in the assessment of mesorectal lymph nodes (LN). MRI findings of each patient were compared with detailed histopathological examination of rectal specimens. RESULTS: Forty patients with rectal cancer, undergoing rectal resection with total mesorectal excision were enrolled in the study. MRI assessment of the T-stage was correct in 22 of the 40 study patients (55.0%). T-stage overstaging was noted in 14 (35.0%), and understaging in 4 (10.0%) study patients. According to preoperative MRI (using Horvat's criteria), there were 50 suspicious/malignant lymph nodes. Only 13 of these 50 LNs (26.0%) were proved malignant on histopathology examination. In total, our study group included 18 patients with suspicious/positive LNs (according to preoperative MRI) who were classified as cN+. MRI diagnosis of malignant lymphadenopathy was correct in only 33.3% of these patients. CONCLUSION: MRI shows very low accuracy in the evaluation of mesorectal lymph nodes in patients with rectal cancer. Therefore neoadjuvant therapy should be offered particularly with respect to MRI description of the depth of carcinoma invasion (T-stage and relationship to fascia propria of the rectum).

Sebaceous carcinoma of the breast area a case report.

INTRODUCTION: Sebaceous carcinoma is a rare malignant tumor of the sebaceous glands. Sebaceous carcinoma occurs mainly in the head and neck region, rarely in trunk.  Case report: We present a case report of 63-year-old patient, operated on for sebaceous carcinoma in the right breast area. The patient underwent radical surgery, removal of the tumor with the skin, subcutaneous tissue, and the large pectoral muscle. The patient is in good clinical condition eight months after the surgery. She is being constantly monitored and so far, there are neither signs of local recurrence nor tumor progression.  Conclusion: Patients with rare tumors should be treated comprehensively with subsequent lifelong dispensarisation in specialized centers. Multidisciplinary medical teams are able to eruditely diagnose, recognize, treat and dispense patients.

Another case of coincidental Giardia infection and pancreatic cancer.

Until now, few cases of coincidental giardiasis and pancreatic tumors have been described. Among these cases, three described giardiasis cases coincided with confirmed pancreatic cancer. We present another case of Giardia infection coexisting with pancreatic cancer in a 67-year-old man who suffered from stenosis of the distal ductus choledochus combined with a hypoechoic mass in the head of the pancreas. The diagnostic conclusion of suspicious adenocarcinoma was based on endoscopic ultrasound fine-needle aspiration (EUS-FNA) biopsy and confirmed by a partial duodenopancreatectomy. On bloody cytology smears prepared from the EUS-FNA specimen, trophozoites of Giardia intestinalis accompanying an inflammatory background and features that fulfilled the morphological criteria of malignancy were observed. In histological sections from the duodenopancreatectomy specimens, the parasites were observed attached to the epithelium, but individual Giardia parasites were also observed beneath the epithelial lining. According to conventional genotyping, the infecting Giardia belonged to sub-assemblage AII.