During a routine ultrasound examination of the abdomen, a 60-year-old male patient was diagnosed with mass in the tail of the pancreas. However, computed tomography (CT) suggested that the lesion was ...an intrapancreatic accessory spleen (IPAS). IPAS is a congenital anomaly, which usually does not present with symptoms. IPAS occurs during embryologic splenic development when a portion of the splenic tissue fails to fuse with the main body of the spleen. IPAS does not require treatment, except when it is combined with idiopathic thrombocytopenic purpura. In the present case, the diagnosis of IPAS was confirmed using magnetic resonance imaging (MRI). On CT and MRI, the IPAS had a density and intensity comparable with that of the spleen in all plain and contrast-enhanced phases. Due to comorbidities, the patient refused further evaluation or surgery. The lesion was periodically monitored using CT every 1-2 years. Since the tumour was stable during the 7-year follow-up, it was concluded that it was an IPAS. In patients that cannot undergo surgery, a characteristic location (near the spleen) and imaging features (such as a 'zebra-patterned' enhancement in the arterial phase on CT and high signal intensity on diffusion-weighted imaging sequences on MRI, which is comparative to that of the normal spleen) may allow for a diagnose of IPAS with a high level of certainty. Being aware of this condition could aid a correct diagnosis of IPAS and prevent unnecessary surgery.
Chronic lymphocytic leukemia (CLL) is a lymphoproliferative disorder characterized by a specific expansion of mature B-cell clones. We hypothesized that the disease has a heterogeneous clinical ...outcome that depends on the genes and signaling pathways active in the malignant clone of the individual patient. It was found that several signaling pathways are active in CLL, namely, NOTCH1, the Ikaros family genes, BCL2, and NF-κB, all of which contribute to cell survival and the proliferation of the leukemic clone. Therefore, we analyzed primary CLL cells for the gene and protein expression of NOTCH1, DELTEX1, HES1, and AIOLOS in both peripheral blood lymphocytes (PBLs) and the bone marrow (BM) of patients, as well as the expression of BCL2 and miRNAs to see if they correlate with any of these genes. BCL2 and AIOLOS were highly expressed in all CLL samples as previously described, but we show here for the first time that AIOLOS expression was higher in the PBLs than in the BM. On the other hand, NOTCH1 activation was higher in the BM. In addition, miR-15a, miR-181, and miR-146 were decreased and miR-155 had increased expression in most samples. The activation of the NOTCH pathway in vitro increases the susceptibility of primary CLL cells to apoptosis despite high BCL2 expression.
Sindrom mijelodisplazije ili mijelodisplastični sindrom (MDS) naziv je za skupinu heterogenih klonskih hematoloških poremećaja hematopoetskih matičnih stanica, praćenih neučinkovitom hematopoezom ...jedne ili više staničnih linija i pojavom posljedičnih citopenija s povišenim rizikom od progresije u akutnu mijeloičnu leukemiju (AML). Mikroglasničke ribonukleinske kiseline (miRNK; engl. Micro Messenger Ribonucleic Acid – miRNA) kratke su, nekodirajuće molekule RNK koje, osim što pridonose patogenezi MDS-a, djeluju i kao regulatori epigenetičkih mehanizama i potencijalni su prognostički biljezi za ranu dijagnostiku i klasifikaciju MDS-a. Cilj je rada bilo ispitivanje razine promjene genskih ekspresija specifičnih miRNK (hsa-miR-125a, hsa-miR-99b, hsa-miR 126 i hsa-miR-125b) u plazmi zdravih dobrovoljaca i ispitanika s dijagnozom MDS-a. Ispitivanje se provodilo u Kliničkom zavodu za medicinsku biokemiju i laboratorijsku medicinu Kliničke bolnice Merkur, akreditiranome prema normi EN ISO 15189:2012. Genske ekspresije navedenih, specifičnih miRNK određene su u uzorcima plazme zdravih dobrovoljaca (4) i ispitanika s MDS-om (33) kojima je on dijagnosticiran u Zavodu za hematologiju Klinike za unutarnje bolesti Kliničke bolnice Merkur, Referentnom centru Ministarstva zdravlja Republike Hrvatske za dijagnostiku i liječenje MDS-a. Statistički značajne razlike genske ekspresije specifičnih miRNK u zdravih dobrovoljaca u odnosu prema ispitanicima s MDS-om nisu nađene P (hsa-miR-125a) = 0,398; P (hsa miR-99b) = 0,134; P (hsa-miR-126) = 0,305; P (hsa-miR-125b) = 0,079, a razina promjene genskih ekspresija miRNK (engl. miRNA ratios) hsa-miR-125a i hsa-miR-99b u ispitanika s MDS-om bila je gotovo dva puta viša u odnosu prema normaliziranim razinama genske ekspresije u zdravih dobrovoljaca (2,30 prema 1,90) i više od dva puta viša od razine promjene genske ekspresije miRNK hsa-miR-125b. Rezultati istraživanja upućuju na to da bi genske ekspresije miRNK hsa-miR-125a i hsa-miR-99b mogle biti regulirane istim mehanizmom i da bi mogle biti klinički važne u ispitanika s MDS-om.
U ovom radu prikazujemo Parišku klasifikaciju dijagnostičkih kategorija u citologiji urina. Svjetska je radna skupina za citologiju urina osnovana 2013. godine radi uvođenja izjednačene terminologije ...i načina izvještavanja o nalazu u urološkoj citologiji. Smjernice za citologiju urina pod nazivom The Paris System (TPS) for Reporting Urine Cytology objavljene su 2015. godine, a uključuju specifične dijagnostičke kategorije te pouzdane citomorfološke kriterije za dijagnostiku lezija prijelaznog epitela. Dijagnostičke kategorije Pariške klasifikacije jesu: negativno na karcinom visokog stupnja (engl. Negative for High-Grade Urothelial Carcinoma – NHGUC), atipične stanice prijelaznog epitela (engl. Atypical Urothelial Cells – AUC), suspektno na karcinom prijelaznog epitela visokog stupnja (suspektno) (engl. Suspicious for High-Grade Urothelial Carcinoma – SHGUC), karcinom prijelaznog epitela visokog stupnja (engl. High-Grade Urothelial Carcinoma – HGUC), neoplazma prijelaznog epitela niskog stupnja (engl. Low-Grade Urothelial Neoplasm – LGUN) i drugi maligni primarni i metastatski tumori te različite lezije.
Dijagnostička kategorija mijelodisplastične/mijeloproliferativne neoplazme (MDS/MPN) obuhvaća klonske hematopoetske neoplazme koje u vrijeme postavljanja dijagnoze istodobno pokazuju klinička, ...laboratorijska i/ili morfološka obilježja i mijelodisplastičnog sindroma (MDS) i mijeloproliferativne neoplazme (MPN). Citopenija i displazija jedne ili više mijeloidnih loza (obilježja MDS-a) mogu se vidjeti istodobno s leukocitozom, trombocitozom i/ili organomegalijom (obilježja koja su češće povezana s MPN-om). Bolesnici s prije dijagnosticiranim MPN-om, kod kojih se razviju mijelodisplastične promjene kao posljedica evolucije bolesti ili kemoterapije, ne ubrajaju se u ovu dijagnostičku kategoriju. Prema klasifikaciji Svjetske zdravstvene organizacije (engl. World Health Organization – WHO) iz 2008. godine te njezinoj reviziji iz 2016. godine, MDS/MPN obuhvaća pet entiteta: kroničnu mijelomonocitnu leukemiju (engl. chronic myelomonocytic leukemia – CMML), juvenilnu mijelomonocitnu leukemiju (engl. juvenile myelomonocytic leukemia – JMML), atipičnu kroničnu mijeloičnu leukemiju, BCR-ABL1- (engl. atypical chronic myeloid leukemia – aCML), MDS/MPN s prstenastim sideroblastima i trombocitozom (engl. MDS/MPN with ring sideroblasts and thrombocytosis – MDS/MPN-RS-T) i neklasificirani MDS/MPN (engl. MDS/MPN, unclassifiable – MDS/MPN, U).
Primary squamous cell carcinoma (SCC) of the renal pelvis is a very rare tumor often associated with renal calculi and chronic infections. There are only a few articles in literature which report ...renal pelvis SCC in kidneys treated for renal tuberculosis, diagnosed after nephrectomy. We report the case of SCC in a hydronephrotic kidney previously treated for tuberculosis, diagnosed by ultrasound (US)-guided fine-needle aspiration cytology (FNAC), prior to core biopsy and nephrectomy. Our report highlights the utility of FNAC and the need for a careful search for renal collecting system tumors, in patients previously treated for renal tuberculosis.
Hemophagocytic lymphohistiocytosis (HLH) is a congenital or acquired hyperinflammatory syndrome, in some cases accompanied by acute liver failure. We present a case report of acute liver failure ...associated with HLH after COVID-19 vaccination and bring a literature review of the connection between HLH and COVID-19 vaccination. HLH has significant mortality rate, and liver transplantation is not a therapeutic option. Therefore, early recognition and timely conservative treatment are corner stones in reducing HLH-related morbidity and mortality.
Gaucher's disease (GD) has variable presentations, but cardiac involvement is a generally uncommon clinical manifestation of the disease. In the past 25 years, the underlying genetic disorder in GD ...has been well characterized, with almost 300 mutations identified in the glucocerebrosidase gene (GBA). Nevertheless, clear genotype-phenotype correlations have been confirmed only for the most frequent mutations. We present a female patient, who was known to have aortic valve pathology from the age of 30. Despite medical follow up, at the age of 60 she presented with heart failure (NYHA III). At that time echocardiography showed severe fibrosed aortic valve stenosis. Valvuloplasty was planned, when thrombocytopenia, previously considered to be autoimmune, became severe. Anemia and leukopenia were also noted. Moderate splenomegaly and severe bone marrow infiltration were found on MRI. Bone marrow aspiration revealed typical Gaucher cells and the enzyme activity assay confirmed the diagnosis. DNA investigation showed that the patient is homozygous for the G377S mutation. To our knowledge, of all mutations identified so far, only homozygosity for the D409H mutation has been associated with cardiovascular valvular disease in patients with a rare type 3c GD. G377S, found in our patient, is a rare mutation, previously reported as a 'mild' mutation, because of the finding that homoallelic patients were essentialy asymptomatic or had mild disease. Our patient, also homozygous for G377S mutation, had a severe form of type 1 GD, with rare cardiac valve involvement, which is a previously unreported clinical presentation for this mutation. This case further proves that patients with the same genotypes can have different phenotypes, emphasizing the influence of other genetic and/or environmental factors.