[Longterm indolent course of pleomorphic mantle cell lymphoma with multiple chromosomal abnormalities]. / Dugogodisnji indolentni tijek pleomorfnog limfoma plastene zone s multiplim kromosomskim abnormalnostima.

Mantle cell lymphoma (MCL) is a B-cell neoplasm characterized by aggressive clinical course with an average 3- to 5-year patient survival. We present a patient whose illness turned from initial classical morphological variant to a more aggressive pleomorphic form of MCL in only a few months, but with unchanged long-term indolent clinical course. At the time when lymphoid cell pleomorphism was proven, the disease presented itself through recurrent peripheral lymphadenopathy without extranodal involvement or general symptoms. Other numerous abnormalities were found next to typical cytogenetic translocation t (11,14). Histopathology confirmed the diagnosis of MCL, pleomorphic type. After autologous stem cell transplantation, the disease remained morphologically the same, but the patient was in a good general condition for a long period of time. More than two years after the pleomorphic MCL had been diagnosed and one year after the transplantation, major lymphadenopathy occurred. Our case report points to a large spectrum of morphological and cytogenetic variability of MCL, which often does not correlate with the clinical course of the disease.

Recurrent chromosomal abnormalities in lymphomas in fine needle aspirates of lymph node.

The detection of specific chromosomal abnormalities is important in the diagnostic workup of aggressive lymphomas, giving its impact on the treatment strategies and prognosis. This has been accomplished by using the fluorescent in situ hybridisation method (FISH) performed on fine needle aspiration (FNA) specimens what is attractive in the diagnosis of lymphoma in the comparation with other methods for collecting samples. The cytogenetic analyses were performed in series of 80 patients with lymphoma (43 women and 37 men, median age 48, range 3-90 years). In our series 89.0% (71) of the specimens yield sufficient numbers of analysable metaphases, comprising 63 non-Hodgkin lymphomas (NHL) and 8 examples of Hodgkin disease (HD). Among 71 successful karyotyped specimens 58 (82.0%) showed clonal karyotypic abnormalities. Numerical changes in 4, structural changes in 20 and both and numerical with structural changes in 30 of 54 NHL cases. Trisomies 3, 7, 8, 12, 18, X and monosomies 1 were most common numerical abnormalities. The NHL cases were typically characterised by structural rather than numerical aberrations with chromosome arms 1p/q, 3p/q, 6q, 11q, 17p and 14q most frequently involved. The expected translocation (14;18) (q32;q21) in 8 and t(8;14) (q24;q34) in 6 cases, both translocations at the same time in three cases, complex rearrangement with chromosome 8, 14, and 18, namely t(8;14;18) (q24;q32;q21) in one case, t(11;14) (q13;q32) in three and one case with translocation 14q32 with chromosome 3q27, 6q and 14q32 were found. In 28 of 54 (52%) NHL cases t(14;v) was present. Four abnormal clones detected in Hodgkin disease were typically consisted of a small percentage of metaphases. The use of FISH method enable the detection of loss or gain of genetic material and reveal rearrangements unsuspected by conventional cytogenetics in 34 (48.0%) cases.

Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.

Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981. We report a case of 21 month old girl with PKS and significant overgrowth. Cytogenetic analysis was performed using the GTG banding technique. The karyotype of cultured lymphocytes was normal. The karyotype from skin fibroblasts was established as mosaic tetrasomy of 12p 47,XX,+i (12) (p10)/46,XX. The origin of the extra marker chromosome was determinated by fluorescence in situ hybridization with chromosome 12 specific DNA probes confirming that supernumerary marker is chromosome i (12p) in 68% of cells. Despite the excessive postnatal growth we found low serum growth hormone levels and reduced response to pharmacological stimulation test. This is also the first report of a postnatal patient in our country.

Cytogenetics of multiple myeloma.

Great studies of multiple myeloma (MM) strongly suggested that specific chromosomal changes are of prognostic significance in patients with MM1. We have performed cytogenetic analysis and recently fluorescent in situ hybridization (FISH) on 43 cases of MM. Clonal chromosomal changes were present in 24 (56%) cases. Hyperdiploid karyotype was found in 12 (50%) cases, hypodiploid in 8 (33%) cases, and 4 (17%) cases had a pseudodiploid karyotype. The most common numerical abnormalities were gains of whole chromosomes 15, 11, 3 and 6. Whole chromosome losses were also frequent involving chromosomes X, 13, 14, and 8. Most cases showed also structural rearrangements 71% (n = 17): del(1p), dup(1q), del(5q), del(13q), del(17p) and t(11;14)(q13;q32) (n = 4, 17%). Chromosome -13/13q deletion was found in 42% (n = 10) cases; complete loss of 13 was observed in 67% (n = 7) cases, whereas 33% (n = 3) had interstitial deletions. In the majority of the cases there was a mixture of abnormal and normal metaphases.

[Single cell--definitive diagnosis! Where the profession ends and the art begins?]. / Jedna stanica--konacna dijagnoza! Gdje prestaje struka i pocinje umjetnost?

Cell is a morphologically and functionally the tiniest living organism, present from the very beginning of life on the Earth. Specialized cell types make up specific tissues and organs of the human body. Cell itself and cell elements are liable to morphological, functional, phenotypic and genotypic alterations in various physiological and pathological states. These alterations are studied by cytodiagnosis to diagnose the disease at cellular level. Cytologic examinations belong to the group of morphological, non-aggressive or minimally invasive tests that are easy to perform for both the patient and the professional. In addition, these tests are highly reliable and preferred to the related diagnostic procedures for providing immediate orientation and definitive diagnosis, thus saving both time and money. With the introduction of adjunctive technologies such as cell-surface marker analysis, computer image analysis, molecular and cytogenetic technologies performed on cytologic smears, cytology has become an ever more important factor in the diagnosis, subtyping and prognosis of malignant tumors. Thorough knowledge of cell morphology is a basis for proper performance and understanding of cytology techniques. A cytologist needs to be familiar with clinical manifestations of the disease and to be informed on all relevant data on the patient and his current and previous medical history, in order to be able to issue findings that are understandable and usable to all clinicians and patients. It requires close collaboration between the cytology laboratory and the ward, and among the cytologist, the patient and the clinician. Good collaboration with other diagnostic professions such as pathology, laboratory, molecular and cytogenetic diagnosis is by no means less important. Cytology as a profession implies knowledge of the morphological characteristics of normal cells and cells in various physiologic states, along with due knowledge of the morphology, phenotypic and genetic features of pathologic alterations. However, synchronizing and combining cytologic morphology with other sophisticated diagnostic procedures to reach an accurate diagnosis, subtyping and prognosis of tumor disease is artistry indeed.