Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 34-year-old man was found to have leukocytosis and thrombocytosis in 1983. In 1988, his leukocyte count was 10,400/microliter, Hb 16.5g and a platelet was 73 x 10(4)/microliter. A bone marrow examination showed megakaryocyte hyperplasia. Essential thrombocythemia (ET) was diagnosed but no treatment was given. In February 1993, anemia and hepatosplenomegaly developed and cytogenetic study of the peripheral blood demonstrated t(1;7) (q10;p10). Myelofibrosis was diagnosed as by bone marrow biopsy. The patient was treated with blood transfusion, oxymetholone and prednisolone, but without effect. In 1995, acute myeloid leukemia developed, and he died in December 1995 due to septicemia. We report here a case of the ET developed myelofibrosis with t(1;7) (q10;p10) anomaly and acute leukemia.
 ...
PMID:[Essential thrombocythemia in transformation to acute leukemia (FAB-M0) as a natural history from myelofibrosis with t(1;7)]. 919 91

The frequency and clinicopathological significance of the expression of natural killer cell receptors (NKRs) in T-cell malignancies remain undefined. A 71-year-old man presented with leukocytosis, generalized lymphoadenopathy, and hepatosplenomegaly. Bone marrow and lymph node biopsies showed a T-cell lymphoproliferative disease expressing NKRs (CD2(+), CD3(+), CD4(+), CD5(+), CD7(+), CD8(-), CD56(-), CD94(+), CD158a(+), CD158b(+), CD161(-), p70(-), TCRalphabeta(1), TCRgammadelta(2), TIA-1(-)). An abnormal clone, 46,Y,add(X)(p14),der(1)t(1;6)(p33;p21),t(7;12)(p10;q10), was found on conventional karyotyping. Comparative genomic hybridization confirmed these findings, and showed a deletion of 12p that was not apparent on karyotyping. Clinically, the disease remained indolent and responded transiently to purine analogs but not to intensive chemotherapy. Peripheral T-cell lymphoproliferative disease of CD4(+)alphabeta(1)NKR(+) phenotype is hitherto undescribed. The issues of whether this case was derived from transformation of a rare T-cell subtype or represented aberrant T-cell expression of NK-cell antigens, and the clinicopathologic significance of these T-cell neoplasms warrant further studies.
 ...
PMID:Chronic T-cell lymphoproliferative disease expressing natural killer cell receptors: clinicopathological and molecular features. 1156 50

Two cases of CD56+CD33+ leukemia/lymphoma are reported. The patient in case 1 presented with skin rash, diffuse lymphadenopathy, and hepatosplenomegaly. Blasts with monocytoid and lymphoid features were present in the peripheral blood. The tumor cells expressed HLA-DR, CD4, CD33, CD38, and CD56. Cytogenetic analysis revealed del(2)(p13),del(9)(q22),add(6)(q25),add(12)(p12),-13,-18, and -20. The clinicopathologic features were similar to those of blastic natural killer cell leukemia/lymphoma or type 2 dentritic cell leukemia. The patient in case 2 presented with generalized weakness and skin erythema not responding to antibiotics. Circulating blasts with monocytoid features were seen in the peripheral blood. The tumor cells expressed CD7, CD13, CD33, CD38, and CD56, and cytogenetic analysis revealed -5,add(7)(p22),-8, del(10)(p11.2),-12,der(13; 14)(p10;p10),+14,-16,-18,-19, and del(20)(q13.1). The clinicopathologic features were consistent with a myeloid/ natural killer cell precursor acute leukemia. Both disorders are aggressive hematopoietic malignancies that have similar clinical presentation and morphology but differ in immunophenotype and cytogenetic features.
 ...
PMID:Challenge in diagnosis of CD56+ lymphoproliferative disorders: two cases of CD56+CD33+ lymphoma/leukemia. 1527 May 96