Trisomy 9 in hematologic disorders: Possible association with primary thrombocytosis

Cournoyer, Denis; Noël, Pierre; Schmidt, Michael A.; Dewald, Gordon W.

doi:10.1016/0165-4608(87)90262-7

Cited by 11 publications

(2 citation statements)

References 33 publications

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“…The rarity with which trisomy 9 occurs, either alone or in association with other cytogenetic abnormalities, suggest that it may not be a primary event in the pathogenesis of leukemia, but a secondary anomaly associated with clonal evolution of the disease. 8 The presence of inv16 and Trisomy 9 has been reported in earlier studies ( Table 1 ).…”

Section: Discussionsupporting

confidence: 70%

Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report

et al. 2022

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Acute myeloid leukemia (AML) are a diverse group of hematological malignancies, each with a distinct clinical, morphological, immunophenotypic, and molecular profile. The World Health Organization (WHO) classifies AML into various subtypes based on recurrent genetic abnormalities, each of which has clinico-pathological and prognostic significance. Inversion(16)(p13q22) or t(16;16)(p13q22) is a balanced structural chromosomal abnormality associated with complete remission and a favorable response to treatment. Trisomy 9 is a numerical chromosomal abnormality with an intermediate risk and is often seen in association with other cytogenetic abnormalities. We describe a case of a 36-year-old female patient who was diagnosed as AML-M4 on peripheral smear and bone marrow evaluation. Cytogenetic studies revealed concurrent presence of inv(16) and trisomy 9. To the best of our knowledge, this is the first case in published literature with simultaneous presence of inv(16)(p13q22) and trisomy 9 in de novo AML.

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Section: Discussionsupporting

confidence: 70%

Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report

et al. 2022

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“…This hypothesis is supported by the fact that hematopoietic stem cell transplantation has alleviated MDS with SPAP patients [ 16 ]. In contrast, trisomy 9 is rarely reported and is chiefly associated with myeloproliferative and myelodysplastic disorders, such as MDS [ 20 ]. Disrupted GM-CSF signaling is a major cause of PAP.…”

Section: Discussionmentioning

confidence: 99%

Intestinal Behçet’s disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report

et al. 2021

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Background Gastrointestinal lesions, which sometimes develop in Behçet’s disease (BD), are referred to as intestinal BD. Although rare, intestinal BD can be accompanied by myelodysplastic syndrome (MDS) with abnormal karyotype trisomy 8, which is refractory to immunosuppressive therapy. Pulmonary alveolar proteinosis is a rare lung complication of BD and MDS. Herein, we present an extremely rare case of intestinal BD presenting with MDS and several chromosomal abnormalities, followed by secondary pulmonary proteinosis. Case presentation A 58-year-old Japanese woman with a 3-year history of genital ulcers and oral aphthae was admitted to our hospital. The patient developed abdominal pain and persistent diarrhea. Colonoscopy revealed multiple, round, punched-out ulcers from the terminal ileum to the descending colon. Intestinal BD was diagnosed and the patient was treated with colchicine, prednisolone, and adalimumab. However, her symptoms were unstable. Bone marrow examination to investigate the persistent macrocytic anemia revealed the presence of trisomy 8, trisomy 9, and X chromosome abnormalities (48, + 8, + 9, X, i(X) (q10) in 12 out of the examined 20 cells). Based on her hypoplastic bone marrow, the patient was diagnosed with low-risk MDS (refractory anemia). At the age of 61, the patient developed pneumonia with fever and diffuse ground-glass opacities on the lung computed tomography (CT). Chest high-resolution CT and histopathology via transbronchial lung biopsy revealed the presence of pulmonary alveolar proteinosis (PAP). These findings combined with the underlying disease led to the diagnosis of secondary PAP. Conclusions Secondary pulmonary proteinosis may accompany intestinal BD with MDS and several chromosomal abnormalities. Physicians should pay attention to lung complications, such as PAP, in patients with intestinal BD complicated by MDS. Genetic abnormalities may be associated with the development of such diseases.

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Omental-mesenteric inflammatory pseudotumor. Cytogenetic demonstration of genetic changes and monoclonality in one tumor

Treissman

Gillis

Giacomantonio

et al. 1994

Cancer

101

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Background. Extrapulmonary inflammatory pseudotumor (plasma cell granuloma) is an uncommon lesion in adults and children, and little is known either of its etiology or clinical characteristics. However, it remains a significant source of morbidity to patients and confusion to clinicians. Methods. Case reports are presented of three patients with intraabdominal inflammatory pseudotumor who recently underwent surgery. A review of the recent world literature is also presented. Clinical and laboratory characteristics of omental‐mesenteric inflammatory pseudotumor are reviewed along with a discussion of its etiology. Results. Cytogenetic data from cells of one patient show a derivative chromosome evolved from a translocation between the long arm of chromosome 2 and the short arm of chromosome 9 [(2;9) (q1,3;p2,2)]. Conclusions. The lesion is monoclonal, and genetic changes may play a crucial role in the development of this neoplasm. Omental‐mesenteric inflammatory pseudotumor appears to represent a distinct clinicopathologic entity as a benign neoplasm in children. Cancer 1994; 73:1433–7.

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Trisomy 9 in hematologic disorders: Possible association with primary thrombocytosis

Cited by 11 publications

References 33 publications

Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report

Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report

Intestinal Behçet’s disease complicated by myelodysplastic syndrome and secondary pulmonary alveolar proteinosis: a case report

Omental-mesenteric inflammatory pseudotumor. Cytogenetic demonstration of genetic changes and monoclonality in one tumor

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