1/9. Sweet's syndrome during the chronic phase of chronic myeloid leukaemia.We report the case of a 52 year-old male in the chronic phase of chronic myeloid leukaemia, with philadelphia chromosome due to t(9;22) in the karyotype. He was treated with courses of busulfan and hydroxyurea. Fourteen months after initial presentation, the patient developed fever, non-productive cough, maculonodular violaceous painful skin lesions and bilateral pulmonary infiltrates visible on a chest roentgenogram. Laboratory data, repeated bone marrow aspiration and biopsy and karyotype analysis showed findings similar to those of the initial diagnosis. A biopsy taken from one of the trunk lesions was consistent with Sweet's syndrome. Oral methylprednisolone therapy was initiated at doses of 64 mg daily, and the skin lesions and fever were rapidly resolved. When we reduced the steroid dose, skin lesions and fever recurred. Two further courses of steroid therapy were given with similar results. Finally we treated him with naproxen (750 mg daily for 1 month) with a rapid and stable response. This drug should be considered as an alternative treatment for patients with Sweet's syndrome not responding to corticosteroids or for immunocompromised hosts.- - - - - - - - - - ranking = 1keywords = karyotype (Clic here for more details about this article) |
2/9. Acute febrile neutrophilic dermatosis (Sweet's syndrome) in association with myelodysplastic syndromes: a report of three cases and a review of the literature.Three patients with acute febrile neutrophilic dermatosis (AFND, Sweet's syndrome) in association with myelodysplastic syndromes (MDS) are described and, in addition, another 10 published cases are reviewed. In the reviewed patients the male/female ratio is 2:1. The great majority of the patients had decreased or normal leucocyte counts at the time the syndrome developed. Chromosome analysis was available in eight cases: in three the karyotype was normal while five patients had a clonal abnormality. No clinical or laboratory parameters seemed to predict the response to steroids: all but one of the treated patients responded promptly. Moreover, three patients recovered spontaneously. Shortly after the appearance of Sweet's syndrome nine patients developed acute leukaemia and one patient died with hypoplasia. Development of Sweet's syndrome in association with MDS may not be an uncommon clinical finding. The occasional MDS patient developing AFND will often progress into acute leukaemia and thus the occurrence of AFND warrants a bone marrow examination and close follow-up of the patient.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
3/9. Clonal chromosome aberrations in a keratoacanthoma and a basal cell papilloma.Clonal chromosome abnormalities were found in short-term cultures from two epithelial skin tumors, a basal cell papilloma and a keratoacanthoma. The three-way translocation t(2;6;11)(q21;q27;p13) was the sole clonal rearrangement in the basal cell papilloma. The karyotype of the keratoacanthoma was more complex: 46,XX,der(2)(2pter 2p13::2p11 cen 2q37: :5q33 5qter),der(2) (:2p13 cen 2q37::6q23 6qter),der(5)t(2; 7;5)(q37;q11;q33),der(6) (6pter cen 6q23::2p13 2pter),der(7)t(2; 7;5)(q37;q11;q33), del(13)(q11q14). In addition, several nonclonal structural changes were seen in both tumors.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
4/9. Sweet's syndrome, acute leukemia, and t(3;5).We report herein the case of a 36-year-old woman who was diagnosed as having Sweet's syndrome 13 months prior to developing acute myeloid leukemia (FAB type M2). Her bone marrow karyotype was 46,XX,t(3;5)(q21;q31). Translocation t(3;5) has been reported in seven other cases of acute nonlymphocytic leukemia. None of these cases have been associated with Sweet's syndrome.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
5/9. Abnormality of platelet size and T-lymphocyte proliferation in an autosomal recessive form of dyskeratosis congenita.dyskeratosis congenita (DC) is a rare familial hematologic disorder that has various modes of inheritance. We have studied 2 siblings with DC. 1 sibling had thrombocytopenia, which responded to therapy with nandrolone decanoate and oxymetholone. Platelets were abnormally small, which indicates that a qualitatively abnormal megakaryocytopoiesis is a feature of DC. Myeloid and erythroid progenitors in specimens of the blood and bone marrow from both siblings were either absent or greatly reduced in numbers. The qualitatively abnormal megakaryocytopoiesis, and the quantitative abnormality of hematopoietic progenitor cells committed to myelopoiesis and erythropoiesis, indicates involvement of the pluripotent stem cell in DC. Cytogenetic studies of the bone marrow and peripheral blood lymphocytes from these patients showed normal karyotypes, a normal sister chromatid exchange frequency, and a rapid proliferation of peripheral T lymphocytes, a feature of the disorder that has not been reported previously.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
6/9. X-linked dyskeratosis congenita with pancytopenia.Two maternal male cousins in a Jewish Iraqi kindred were affected with dyskeratosis congenita and had a megaloblastic bone marrow. One cousin had pancytopenia and the other had thrombocytopenia. The kindred displays a deficiency of glucose-6-phosphate dehydrogenase (G6PD) and a beta-thalassemia trait. The following genetic "markers" of the x chromosome were studied: G6PD, the X-linked blood groups Xg, and color vision. Linkage analysis indicated that dyskeratosis, G6PD, and Xg are far apart on the x chromosome. Chromosomal studies showed a 46XY karyotype in both cases; however, nonspecific numerical aberrations and structural abnormalities were found in the first and in the second case, polyploidy was seen in four of 60 cells. The proband's cultured fibroblasts did not show increased susceptibility to malignant transformation by simian virus 40, an oncogenic virus.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
7/9. Encephalocraniocutaneous lipomatosis: an uncommon neurocutaneous syndrome.We describe a 2 1/2-year-old girl with encephalocraniocutaneous lipomatosis. The dysmorphologic manifestations in the skull, brain, skin, and eyes associated with a normal karyotype suggested the diagnosis of this rare neurocutaneous syndrome.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
8/9. Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint.Linear epidermal nevi are hamartomas that originate in embryonic ectoderm. For epidermal nevi associated with involvement of other systems, such as the skeleton or central nervous system, the term epidermal nevus syndrome has been introduced. Chromosomal aberrations have been suggested but not proven as an underlying cause. We performed cytogenetic studies of skin cells from two unrelated men who had a verruciform epidermal nevus. Variegated translocation mosaicism with an identical breakpoint localized at the long arm of chromosome 1 was present in both patients. Normal skin and blood lymphocytes showed normal karyotypes.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |
9/9. Cytogenetic and fluorescence in situ hybridization analyses of a microcystic adnexal carcinoma with del(6)(q23q25).cytogenetic analysis of a case of microcystic adnexal carcinoma (MAC) revealed three unrelated clones with the karyotypes: 46,XX,del(6)(q23q25)[17]/46,XX,1 approximately 2dmin[4]/46,XX,t(1;3) (p10;q10)[2]. Analysis of the 6q- by fluorescence in situ hybridization (FISH) showed that it had resulted from a long arm deletion. The finding of a clonal 6q deletion as the sole karyotypic change in a MAC is of special interest because we previously have identified 6q deletions in different types of malignant salivary gland tumors. This observation, together with the histopathologic similarities between salivary gland tumors and sweat gland tumors, further emphasize the histogenetic relationships between these tumor types.- - - - - - - - - - ranking = 0.5keywords = karyotype (Clic here for more details about this article) |