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A patient with marked thrombocytosis and leukocytosis associated with myelofibrosis was found to have spurious hyperkalaemia caused by in vitro cell lysis. Initial failure to recognize the cause of the hyperkalaemia led to an inappropriate and potentially harmful intervention in an effort to optimize the patient's preoperative status.
Acute megakaryoblastic leukaemia (AML-M7) is an uncommon disease, composing 0.5-1.2% of newly diagnosed adult acute myeloid leukaemias (AML). It is characterised by higher incidence and complexity of cytogenetic abnormalities. We report a rare case of Philadelphia (Ph) chromosome-positive AML-M7, presenting with extreme thrombocytosis and having a poor outcome. The diagnosis was established on the basis of morphological and flow cytometry data for megakaryoblastic proliferation in the bone marrow. Cytogenetics revealed 47,XX,+8,t(9;22)(q34;q11), and p190(BCR-ABL)-rearrangement was detected. MDR1-gene overexpression was not demonstrated; however, the patient was resistant to therapy and died in 6 months. The reported case contributes to the overt heterogeneity of Ph-positive AMLs, which warrants further investigation and understanding.
Myelodysplastic syndromes are usually associated with pancytopenia. Disorders involving deletion of the long arm of chromosome 5 (5q-syndrome) and, rarely, patients with karyotypic abnormalities involving chromosome 3 associated with abnormal thrombopoiesis may have a normal or even raised platelet count. Other cytogenetic abnormalities in myelodysplasia are invariably associated with cytopenia in one or all cell lineages. We report a patient who initially presented with slight anemia and a raised platelet count. Further investigations suggested a diagnosis of primary acquired sideroblastic anemia. Cytogenetic examination revealed a clone with trisomy 8. We believe this is the first reported case of trisomy 8 with trilineage myelodysplasia and thrombocytosis with primary acquired sideroblastic anemia.
POEMS/Crow-Fukase syndrome is a rare multisystem disorder associated with elevated vascular endothelial growth factor (VEGF), which clinically presents with polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes. We report a case of POEMS syndrome due to a gammopathy of undetermined significance with thrombocytosis, vitamin B(12) deficiency, highly elevated VEGF and in addition to glomeruloid angiomas two previously undescribed proliferative vascular lesions: a spinal arteriovenous fistula and a plexogenic pulmonary arteriopathy, which ultimately resulted in lethal pulmonary hypertension. We assume that the high VEGF levels caused the vascular abnormalities observed in our patient.
Hypercoagulable conditions are increasingly recognized as a causative factor in patients with thromboembolic phenomenon. Essential thrombocytosis (ET) is one such condition. This particular myeloproliferative disorder is most commonly associated with thrombotic complications of the microvasculature and bleeding complications involving mucosal surfaces (e.g., gastrointestinal tract bleeding). This case identifies an uncommon manifestation of ET-aortic mural thrombus leading to visceral embolism. Vascular surgeons should be aware of the diagnosis, treatment, and complications of ET, as patients with this condition may first present with an arterial occlusion.
A young African female is described who showed marked thrombocytosis (platelet count 1372 X 10(9)/l) in association with tuberculous peritonitis, a rare association.
Ten patients with a hematologic disorder and a clone of cells with trisomy 9 in the bone marrow were studied in order to investigate the clinical significance of this chromosome anomaly. In five of the patients, trisomy 9 was the only anomaly; in four, there was also trisomy 8; and in one, a Y chromosome was also lacking. Four patients had a myelodysplastic syndrome, and six had a myeloproliferative disorder. Interestingly, four patients had primary thrombocytosis.
A patient with refractory anemia with excess blasts, ringed sideroblasts, and thrombocytosis was found on cytogenetic analysis to have trisomy 19 as the sole abnormality. Although trisomy 19 in combination with other chromosomal anomalies has been encountered in association with a variety of hematologic malignancies, many solid tumors, and the myelodysplastic syndrome, its occurrence as the only cytogenetic aberration is rare and has not been reported in association with thrombocythemia.
Rarely, essential thrombocythemia has led to coronary artery occlusion. Only one patient has been described, in whom coronary angiography demonstrated multiple coronary thrombosis. We report a case of coronary vasospasm, multiple coronary thrombosis involving right and left coronary artery and possibly leading to myocardial infarction and unstable angina pectoris in a woman with migraine, Raynaud's phenomenon, and essential thrombocytosis.
PURPOSE: To bring attention to the implications of thrombocytosis in giant cell arteritis. METHOD: Case report. Platelet counts were measured before and after corticosteroid therapy in a patient with biopsy-proven giant cell arteritis. RESULT: Platelet counts were increased before corticosteroid therapy was begun and returned to normal levels after corticosteroid therapy was instituted. CONCLUSION: Platelet counts in a patient with giant cell arteritis may have diagnostic, therapeutic, and prognostic value.
A girl with neurofibromatosis type 1 showed in infancy extreme thrombocytosis with platelet counts exceeding 2000 x 10(9)/L. Platelet counts remained elevated the first 4 years of life. A large deletion located at chromosome 17q11 was observed. The transient thrombocythemia may relate to a regulator of megakaryocytopoiesis located in the vicinity of the NF1 gene or to the excessive risk of chronic myelomonocytic leukemia in neurofibromatosis.
We reviewed 4 patients with urothelial bladder cancer and hypercalcemia but without evidence of bony metastasis. Of the patients 2 presented with a leukemoid reaction (1 also had thrombocytosis). None of the patients had evidence of bone metastases or other causes of hypercalcemia, such as hyperparathyroidism, sarcoidosis or vitamin D intoxication. All 4 patients received aggressive therapy for the tumors. In each instance the serum calcium returned to normal following radiation therapy or tumor removal, lending support to the theory of humoral hypercalcemia of cancer. A diagnostic and therapeutic approach to such patients is outlined.
We report here a novel translocation t(3;22)(q21;q11) in myelodysplastic syndrome (MDS)-derived overt leukemia with thrombocytosis. A 44-year-old female was initially diagnosed as MDS with a low platelet count and normal karyotype. After 4 months, blood leukemic cells and platelets rapidly increased concomitantly and a diagnosis of acute myeloblastic leukemia (AML M1) was made. Chromosome analysis showed 46, XX, t(3;22)(q21;q11) in 14 of 20 metaphases. Fluorescence in situ hybridization analysis confirmed both the der(3)t(3;22) and the der(22)t(3;22). Our results suggest that unidentified gene(s) at 3q21 breakpoint may be implicated in the pathogenesis of abnormal thrombopoiesis as observed in the 3q21q26 syndrome.
Polycythemia vera (PV) and essential thrombocytosis (ET) are clonal chronic myeloproliferative disorders originating from a multipotent stem cell. Bone marrow examinations reveal chromosomal abnormalities in 15-43% of PV patients and 5% of ET patients, but no specific recurring abnormality has been found to date. We aimed to find cytogenetic aberrations in PV and ET by comparative genomic hybridization (CGH), a relatively new molecular cytogenetic technique. In this study, CGH analysis was performed on peripheral blood leukocytes of 12 PV patients and 8 ET patients. One patient (8.3%) with PV had an abnormal karyotype with a deletion in 7q11.2 and one patient with ET (12.5%) had a gain in 18p. Peripheral blood analysis by CGH revealed a low frequency of cytogenetic abnormalities in PV and ET patients. However, using CGH we were able to detect two cytogenetic aberrations that were not reported previously in these disorders.
The replication status of malignant cells is usually asynchronous. However, to date the pattern of replication has not been studied in myeloproliferative disorders nor has the effect of chemotherapy been systematically evaluated. Therefore, we used fluorescence in situ hybridization to interphase nuclei in PHA-stimulated peripheral blood lymphocytes to examine replication timing of three alleles associated with the malignant process. The study group comprised hydroxyurea treated and untreated patients with essential thrombocytosis (ET) or polycythemia vera (PV). A significantly higher rate of the asynchronous pattern of replication in both treated and untreated patients was found as compared to healthy controls. The highest rate of asynchronous replication was observed in untreated patients. Also, the frequency of the two doublets pattern was significantly higher in the untreated group compared to the treated patients and to the control groups. In conclusion, patients with PV and ET have a higher rate of asynchronous pattern of replication. A possible correlation between disease activity and the pattern of replication is suggested. The effect of hydroxyurea on the pattern of replication is variable.
A case of essential thrombocythemia (ET) with extreme thrombocytosis in a 70-year-old male patient is described. The cytogenetic analysis revealed a pathologic clone with the following previously unreported, unusual karyotype: 46,XY,t(13;14)(q32:q32.3) and pericentric inversion of chromosome 9. The possible association of t(13;14) with the high platelet count is discussed.
Familial thrombocytosis (FT) has previously been described as an autosomal-dominant disorder with manifestations similar to those of sporadic essential thrombocythaemia. We studied an Arab family consisting of four brothers, aged 4-8 years, who had either sustained markedly elevated (> 1000 x 109/l) or moderately elevated (> 500 x 109/l) platelet counts, two healthy sisters and their parents who had normal platelet counts. The four brothers with FT had normal plasma thrombopoietin levels and are currently not presenting with any thrombotic or haemorrhagic complications. Mutation analysis at the thrombopoietin gene (THPO) of the affected family members failed to detect the intron 3 G-->C splice mutation that had been described as causing FT. In addition, segregation analysis using a polymorphic CA marker revealed completely discordant THPO alleles among the affected brothers. We postulate the existence of a new locus for FT whereby the disease is transmitted as a recessive, possibly X-linked trait.
The co-existence of thalassaemia major and chronic myeloid leukaemia (CML) is a very rare event. We report a 32-year-old man with thalassaemia major whose progressively increasing leukocytosis and thrombocytosis led to the diagnosis of CML confirmed by the characteristic t(9;22)(q34;q11) chromosomal translocation and the bcr-abl (b3a2) DNA fusion. The patient was treated with hydroxyurea and anagrelide. This combination resulted in the satisfactory control of both the white blood cell and platelet counts, which has continued over the past 14 months with no major side-effects, albeit with no molecular response. The administration of hydroxyurea was also associated with a significant HbF increase.