Chromosome painting in biological dosimetry: assessment of the ability to score stable chromosome aberrations using different pairs of paint probes.

We exposed human peripheral lymphocytes in vitro to 0.3 and 1 Gy of 60Co gamma rays to evaluate whether the ability and sensitivity to detect chromosomal aberrations by chromosome painting is independent or not to the specific paint probes. To detect structural aberrations (translocations), we painted chromosome spreads simultaneously with two whole-chromosome libraries for chromosomes 1, 2, 3, 4, 5, 6, 7, 11, 13, 16, and 18. To compare the rate of chromosome translocations detected by the different pairs of chromosomes, data were normalized according to the fraction of genome painted and evaluated by unconditional logistic regression. Our results show that any combination of paint probes can be used to score induced chromosomal aberrations. We observed that the amounts of translocations are dose dependent and quite homogeneous within each dose of radiation, independently of chromosomes painted. However, the use of small chromosome probes is not recommended because of the high number of cells to be analyzed due to the small amount of genome painted and because it is more difficult to detect translocations in small chromosomes.

Interferon alpha treatment of accelerated-phase chronic myeloid leukemia in relapse after bone marrow transplantation: a case with complete cytogenetic and molecular remission.

We describe here a patient with Philadelphia-positive chronic myeloid leukemia who had a hematologic and cytogenetic relapse after bone marrow transplantation. A diagnosis of accelerated phase was made when an additional malignant clone was detected. This clone was probably derived from the primitive Philadelphia clone, with duplication and rearrangement of the Philadelphia chromosome. The patient was treated with interferon alpha 2a and experienced a complete cytogenetic and molecular remission, with full reconstitution of the donor marrow.

Interstitial del(12)(q15q22) in myelodysplastic syndromes.

A patient with a myelodysplastic syndrome and a 12q deletion was studied and followed-up. After 10 years and several cytogenetic studies, it is suggested that this abnormality can be the sole chromosomal change in myelodysplastic syndromes.

Deletion(2)(p23) abnormality in a case of secondary acute myeloid leukemia.

We report a case of acute myeloid leukemia (M5a of the FAB classification), secondary to the myelodysplastic syndrome, showing a deletion of the short arm of chromosome 2 at p23 in the bone marrow cells. In addition, a duplication of chromosome 13,dup(13)(q12q14) was found.

Unusual translocations and other changes in acute leukemia.

We report three cases of ANLL and one case of ALL in which we found chromosome abnormalities not previously described. The first patient had a (9;11;16)(p22;q23;p13) translocation in the relapse after bone marrow transplantation. In the second case, a secondary leukemia following a Wilms' tumor, there was a single chromosome anomaly, an inversion of chromosome 13. The third case also presented an isochromosome 13q. In the fourth patient we observed a translocation between two achrocentric chromosomes, as in the third patient, but not of the Robertsonian type: t(21;21)(q22.1;q22.5).

Chromosomal disorder and neoplastic diseases in a family with inherited fragile 16. Causality or casualty?

We describe a family with an inherited fragile chromosome 16 with the concurrence of a constitutional chromosome abnormality, together with neoplastic pathology within the family. The following findings should be pointed out: in relation to the constitutional chromosome pathology, of the proband's 3 children, the eldest daughter was a carrier of the fragile 16, the same as the father, and the second child, a son, had Down syndrome (trisomy 21). Regarding the tumoral pathology of this family, one of the proband's daughters died in childhood from acute lymphoblastic leukemia, whereas the proband developed two different malignant hematologic disorders: a follicular lymphoma and an acute nonlymphocytic leukemia (M5 type). Moreover, two independent acquired chromosome disorders coexisted in the proband; each of these was related to one of the respective hematologic disorders.

Burkitt lymphoma with a duplication of der(8)t(2;8). Interpretation of a complex karyotype by chromosome painting.

A 51-year-old male patient was diagnosed with Burkitt lymphoma 3 months after cardiac transplantation. The bone marrow karyotype was very complex, and to better define the complex karyotype we used the in situ suppression hybridization technique. Previously we interpreted this karyotype to be: 48,XY,t(2;8)(p11;q24), +der(2)t(2;8)(p11;q24),del(2)(q23), +7, +der(8)t(2;8)(p11;q24), +12, -13, -18, by G banding techniques, with a duplication of the t(2;8) derivatives. After in situ hybridization we changed to a: 48,XY,t(2;8)(p11;q24),t(2;18)(q23;q22), +7, +der(8)t(2;8)(p11;q24), +12, -13, which implies duplication of only one t(2;8) derivative.

Ph-positive chronic myeloid leukemia with t(8;21)(q22;q22) in blastic crisis.

A patient diagnosed with chronic myeloid leukemia was studied periodically during his illness. The result showed the presence of a Philadelphia (Ph) chromosome by a 9;22 translocation as a single abnormality to the time of blastic crisis. At that time, the chromosome studies showed a clonal evolution. Furthermore, a second derivated line was added to the Ph line. This new anomaly consisted of a 8;21 translocation, considered as specific of M2 type acute nonlymphoblastic leukemia of French-American-British classification.

Cytogenetic study of neuroendocrine carcinoma of Merkel cells.

We describe the cytogenetic study of a neuroendocrine tumor of Merkel cells which appeared in a patient following a heart transplant. An abnormal karyotype was observed in a metastatic lymph node. The abnormality includes two markers derived from the long arm of chromosome 1, while maintaining two normal chromosomes 1.

[Metabolic imaging by positron emission tomography using [18F] fluorodeoxiglucose in developmental disorders]. / Imagen metabolica por tomografia por emision de positrones usando [18F] fluorodeoxiglucosa en los trastornos del desarrollo.

INTRODUCTION: Developmental disorders are a common pathological condition in Neuropaediatrics and do not usually present characteristic anatomical alterations in the different neuroanatomical imaging tests that can be employed, such as computerised axial tomography or magnetic resonance (MR). Positron emission tomography (PET) using [18F] fluorodeoxiglucose (PET FDG), one of the battery of imaging tests currently available, enables us to obtain data about brain activity in a non invasive manner. PATIENTS AND METHODS: A group of 39 patients with developmental disorders from the Hospital del Mar was analysed. They were submitted to PET FDG brain metabolism tests and in some cases hybrid PET MR images were also obtained; findings were then correlated against the clinical progression of the patients. RESULTS AND CONCLUSIONS: The alterations that were observed showed predominantly bilateral thalamic, mesial temporal and orbital frontal hypometabolism. This alteration of the limbic system, which has no correlation with anatomical damage, can be a predictor of the clinical progression and of the confirmation of the presence of alterations in the brain functions in this type of patients.

[Preoperative lymphoscintigraphy to identify the sentinel lymph node in breast cancer]. / Linfogammagrafía prequirúrgica para la identificación del ganglio centinela en el cáncer de mama.

INTRODUCTION: The preoperative lymphoscintigraphy to the Sentinel Node Biopsy (SNB) can reproduce the lymphatic drainage of the tumour in breast cancer. OBJECTIVES: To establish the pattern of lymphatic drainage of the mammary tumors by means of isotopic lymphoscintigraphy and determine the factors that could influence the negativity of the scintigraphy. METHODS: 121 patients with breast cancer who were going to undergo mammary surgery were studied with SNB. One day before the operation, 37 MBq 99mTc-colloidal sulphide colloid in a volume of 2 ml was injected in peritumoral tissue. Mammary lymphoscintigraphies were performed at 30 minutes and 18 hours P.I., in ANT and OA projections of the corresponding chest. After, the clinical-biological parameters and their influence on the result of the lymphoscintigraphy were analyzed. RESULTS: The scintigraphy were positive in 85 % of the patients. The axillary chain was observed in 97 % and the internal mammary chain in 11 %. The factors associated to the absence of visualization of the sentinel node were: older than 50 years (94 %), menopause (89 %), tumoral size > or = 2 cm (67 %), axillary metastases (67 %), the overexpression of C-erbB-2 oncoprotein (44 %) and proliferative activity > 10 % (67 %). CONCLUSIONS: The peritumoral injection of the radiocolloid establishes the lymphatic drainage pattern in the patients with breast cancer. Its absence of visualization can be associated to circumstances like: age > or = 50 years, menopause, tumoral size > or = 2 cm, axillary metastases, tumoral overexpression of the C-erbB-2 oncoprotein and high proliferative activity of the mammary tumor.

[Positron emission tomography (PET) imaging in head and neck cancer]. / La Tomografía por Emisión de Positrones (PET) en la patología oncológica de cabeza y cuello.

Positron Emission Tomography (PET) with 18F-Fluordeoxyglucose is a diagnostic imaging technique very useful in the management of head and neck cancer, better than anatomic imaging in most cases. PET shows higher diagnostic accuracy in the detection of local and regional tumor recurrences. PET is also indicated for the identification of unknown primary tumors when regional nodal metastasis is the presenting feature. The improved planning of radiation therapy with hybrid cameras PET-CT, the earlier diagnosis of post-radiotherapy residual disease and the possibility of monitoring the effects of chemotherapy makes PET imaging an important tool in evaluating tumor response to treatment.

Southern technique and cytogenetics are complementary and must be used together in the evaluation of Ph1, M-BCR positive chronic myeloid leukemia (CML) patients treated with alpha interferon (IFN-alpha).

Cytogenetic analysis is the gold standard for the follow-up of CML patients. The sensitivity of cytogenetics is fairly similar to that of Southern detection of M-BCR rearrangement (5%); this last technique has the potential advantage of being independent of cell division and yield of metaphases. IFN alpha treatment can induce lack of growth of hemopoietic precursors and poor yield of metaphases has been observed. For this reason we decided to study the grade of concordance and complementarity between analysis of karyotype and detection of M-BCR rearrangement of Southern blot. We studied 43 Ph1 positive, M-BCR positive pre-BMT CML patients (48 samples) treated with IFN alpha 2a. Karyotype was done on bone marrow cells by direct method, culture, and banding. Southern technique was performed onto DNA from peripheral blood leukocytes treated with BgIII (and Xbal if necessary) and hybridized with the universal probe (Ph1/bcr-3, Transprobe 1) labelled with dCTP32. A highly significant association between both tests was obtained. Of 48 samples analyzed, 34 were evaluable by both methods and 28 gave the same result for both tests. The concordance between the tests was good (kappa index: 0.63). Of total samples 27.1% was not evaluable by cytogenetics; this figure was 31.2% in samples from patients who were previously in complete cytogenetic response. All of the specimens not evaluable by karyotyping were evaluable by Southern. One sample was not analyzable by Southern but it was evaluable by cytogenetic analysis. The information obtained by Southern technique was clinically relevant, and decisions were made according to its results. We conclude that both tests show a significant association and a good concordance, although they are not interchangeable. Cytogenetic and molecular studies are complementary and must be employed together in CML patients treated with alpha-interferon.

[Deletion (7)(p11p15): an infrequent abnormality in blast crisis in chronic myeloid leukemia]. / Deleción (7) (p11p15): una anomalía infrecuente en la crisis blástica de la leucemia mieloide crónica.

We report a patient with chronic myelocytic leukaemia (CML) in blastic crisis with a del (7) (p11 p15) in addition to the Philadelphia chromosome. A potential relationship between the presence of this deletion and the therapy in chronic phase is suggested.

[Use of a chromosome 21 gene library in the identification of a marker chromosome in chronic myeloid leukemia]. / Uso de una genoteca del cromosoma 21 en la identificación de un cromosoma marcador en una leucemia mieloide crónica.

The non-isotopic in situ hybridization makes it possible the analysis of, both, numeric and structural chromosome aberrations in interphase nuclei. Moreover, this technique is useful for identification of chromosome markers of unknown origin, frequently present in malignant diseases. In our case, the fluorescent in situ hybridization allowed us, in a CML patient in accelerated phase, to know the origin of a chromosome marker, and then, to state that the patient had a 21 trisomy added to the Philadelphia chromosome.