This study is aimed at comparison of patients with extranodal lymphomas based on pathohistological findings differences (MALT vs non-MALT) as well as regarding gastric and non-gastric localization, and determining the significance of clinical-laboratory parameters with respect to therapeutic response and length of survival. A total of 56 patients with extranodal non-Hodgkin's lymphomas of the gastrointestinal tract were evaluated over a 5-yr period. Regarding the localization of the disease, the stomach was most frequently affected, 39 patients (70%); followed by small and large intestines, 17 patients. As for the pathohistological findings, MALT lymphoma accounted for 70%, DLBCL 25%, while other subtypes accounted for 5%. Patients' distribution was analyzed according to CS based on both Ann Arbor and Lugano systems; however, the difference obtained between the groups was not statistically significant in both staging types of patients. Statistically significant difference in patients' distribution was not found with respect to IPI index, bone marrow infiltration, anemia, hypoalbuminemia, or histological subtype and localization. Difference in survival between patients according to the pathohistological type was not statistically significant also according to the type of the affected gastrointestinal tract organ. Statistical significance of difference according to survival probability was obtained based on age (survival is longer in patients over 55 yr of age); according to CS and according to Ann Arbor and Lugano classifications (the patients with lower CS live significantly longer); according to IPI index (the survival is significantly longer in patients with lower probability: IPI-0,1, and 2), as well as patients free of bone marrow infiltration whose survival is also significantly longer.

BACKGROUND The most common lysosomal storage disorder is Gaucher disease (GD). It is a deficiency of lysosomal glucocerebrosidase (GBA) due to biallelic mutations in the GBA gene, characterized by the deposition of glucocerebroside in macrophage-monocyte system cells. The report targets clinical phenotypes of GD in order to correlate them with GBA gene mutations, as well as to identify GBA gene mutation in patients in Montenegro that are diagnosed with GD. CASES SUMMARY Five patients (4 male, 1 female) of type 1 GD (GD1) are reported. The age at diagnosis ranged from 7 to 40. Patients experienced delays of 1-12 years in diagnosis after the original onset of symptoms. The most common mode of presentation was a variable degree of splenomegaly and thrombocytopenia, while other symptoms included bone pain, hepatomegaly, abdominal pain and fatigue. Osteopenia was present in a majority of the patients: 4/5. All patients were found to have an asymptomatic Erlenmeyer flask deformity of the distal femur. On enzyme replacement therapy (ERT), the hematological and visceral parameters showed significant improvement, but no significant progression in bone mineral density was noticed. GBA gene sequencing revealed homozygosity for the N370S mutation in one patient. The genotypes of the other patients were N370S/55bp deletion, N370S/D409H (2 patients), and H255Q/N370S (1 patient). CONCLUSION The phenotypes of the GD1 encountered in Montenegro were severe but all responded well to ERT.

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Sažetak: Gaucherova bolest (GB) je redak autozomno recesivni nasledni poremećaj nastao kao defekt u sintezi enzima glukocerebrozidaze (GBA), što uzrokuje manjak ili potpuni nedostatak aktivnosti tog enzima. Glavna karakteristika bolesti je nakupljanje glikosfingolipida glukozilceramida (GL-1) i glikozilsfingozina (LysoGL-1) u lizozomima mononuklearnih fagocita, a mutacije u GBA genu manifestuju se različitom kliničkom prezentacijom.Koštane manifestacije u kliničkoj prezentaciji pacijenata sa GB su česte kod tipa I i III GB, a javljaju se u više oblika kao: deformiteti, koštani infarkt, avaskularna nekroza, osteoskleroza i frakture nastale kao posledica osteopenije i osteoporoze, retko akutni osteomijelitis. Kao glavne terapijske opcije prepoznate su primena enzimske terapije i terapija redukcijom supstrata, a bitno mesto zauzimaju i primena biofosfonata, hormonske supstitucione terapije, raloksifena, kalcitonina, stroncijum-ranelata, paratiroidnog hormona. Ortopedske intervencije takođe imaju svoje mesto u terapiji koštanih manifestacija GB, dok je pokazano da splenektomija ima negativan dugoročni uticaj na koštane manifestacije u GB.Patofiziološki mehanizam nastanka koštanih manifestacija u GB još uvek je nedovoljno razjašnjen, a iste imaju za posledicu smanjenje funkcijske sposobnosti i kvaliteta života pacijenta. Rana dijagnoza koštanih promena u pacijenata sa GB ključ je za dobre terapijske odluke i što raniju primenu istih.