El present treball de tesi es basa en l'estudi citogenètic de les gammapaties monoclonals. Les gammapaties monoclonals representen un grup de diverses patologies caracteritzades per un augment de la proliferació, maligne o no, d'un clon de cèl.lules plasmàtiques.
S'han estudiat 53 pacients afectes de gammapatia monoclonal de significat incert (GMSI), 54 pacients amb mieloma múltiple (MM) i 7 pacients amb leucèmia de cèl.lules plasmàtiques.
S'han aplicat les següents tècniques: la citogenètica convencional, el mètode MAC, la hibridació in situ fluorescent (FISH) i la tècnica de May-Grünwald Giemsa-FISH (FISH).
S'han presentat els resultats de tres articles:
-"The contribution of cytogenetics and in situ hybridization in the study of monoclonal gammopathies of undetermined significance" Cancer Genetics and Cytogenetics 132: 25-29, 2002.
-"Cytogenetic and FISH studies in 60 patients with multiple myeloma and plasma cell leukaemia" Cancer Genetics and Cytogenetics 148: 71-76, 2004.
-"Cytogenetic and fluorescence in situ hybridisation (FISH) studies in four cases of plasma cell leukaemia (PCL)" Cancer Genetics and Cytogenetics 121: 163-166, 2000.
I un annex de tres articles més:
-"May-Grünwald-Giemsa- Fluorescence in situ hybridization (MGG-FISH) technique applied to a plasma cell leukemia" Haematologica 84 (6): 568-569, 1999.
-"A new case of Turner syndrome associated with multiple myeloma" Cancer Genetics and Cytogenetics 171(1): 80-81, 2000.
-"Técnicas de hibridación in situ (HIS). Fundamento y aplicaciones en neoplasias hematológicas" Sangre 44 (4): 261-267, 1999.
Les conclusions que es van obtenir van ser les següents:
1. Els estudis citogenètics en GMSI no són informatius degut a que la cèl.lula que entra en divisió no és la cèl.lula plasmàtica. La FISH sobre el total de cèl.lules de moll d'os és fiable i permet detectar alteracions encara que possiblement enmascara alguns pacients amb aneuploidies.
2. Els pacients amb GMSI tipus IgA s'associen de forma estadísticament significativa a la presència d'una monosomia 18.
3. La citogenètica convencional en MM només detecta alteracions en un 50% dels casos. Les alteracions més freqüents són les alteracions al cromosoma 1, reordenaments a 14q32 i la monosomia 13.
4. L'associació entre monosomia 18 i IgA no s'ha confirmat.
5. El 100% dels pacients amb LCP presenten alteracions citogenètiques, freqüentment amb hipodiploidia i monosomia 13.
6. La técnica MGG-FISH permet determinar en quina cèl.lula es troba l'alteració citogenética.

The present study is based in the cytogenetic study of monoclonal gammopathies. Monoclonal gammopathies are characterized by the presence of a clone of plasma cells in the bone marrow.
Samples were collected from 53 patients with monoclonal gammopathy of undetermined significance (MGUS), 54 patients with multiple myeloma (MM) and 7 patients with plasma cell leukemia.
We applied the following techniques: conventional cytogenetics, the MAC method, fluorescence in situ hybridization (FISH) and May-Grünwald-Giemsa-FISH (MGG-FISH) technique.
Results were published three papers:
-"The contribution of cytogenetics and in situ hybridization in the study of monoclonal gammopathies of undetermined significance" Cancer Genetics and Cytogenetics 132: 25-29, 2002.
-"Cytogenetic and FISH studies in 60 patients with multiple myeloma and plasma cell leukaemia" Cancer Genetics and Cytogenetics 148: 71-76, 2004.
-"Cytogenetic and fluorescence in situ hybridisation (FISH) studies in four cases of plasma cell leukaemia (PCL)" Cancer Genetics and Cytogenetics 121: 163-166, 2000.
And another three papers were included in an annex:
-"May-Grünwald-Giemsa- Fluorescence in situ hybridization (MGG-FISH) technique applied to a plasma cell leukemia" Haematologica 84 (6): 568-569, 1999.
-"A new case of Turner syndrome associated with multiple myeloma" Cancer Genetics and Cytogenetics 171(1): 80-81, 2000.
-"Técnicas de hibridación in situ (HIS). Fundamento y aplicaciones en neoplasias hematológicas" Sangre 44 (4): 261-267, 1999.
Conclusions were:
1. Cytogenetic studies in MGUS are not informative because the cell that we studied is not the plasma cell. FISH applied in the totality of the bone marrow cells is trust worthy but probably, in some of our cases, the aneuploid plasma cells cannot be detected because their low percentage.
2. Patients with MGUS and IgA type are associated with the presence of monosomy 18.
3. Conventional cytogenetics in MM can detect abnormal karyotypes in 50% of cases. The more frequent abnormalities are rearrangements in chromosome 1 and 14q32 and monosomy 13.
4. The association of monosomy 18 and IgA was not observed in our series of MM.
5. The 100% of patients with PCL presented cytogenetic abnormalities, frequently hypodiploidy and monosomy 13.
6. The MGG-FISH technique permits to determine which cell presents the cytogenetic abnormality.