| Disease |
Acute myeloid leukemia (AML), multiple myeloma (MM) and less frequently lymphoid malignancies. |
| Phenotype / cell stem origin |
Myeloid malignancies in 5 (3 males and 2 females): 1 Fanconi anemia patient with refractory anemia (RA) (Huret et al., 1988), 1 AML (Raimondi et al 1999), 1 acute myeloblastic leukemia with minimal differentiation (AML-M0) and 2 acute monoblastic leukemia patients (AML-M5) (Busson Le Coniat et al., 2000; Cerveira et al., 2012).
Multiple myeloma in 8 (3 males and 5 females) (Smadja et al., 2001; Sawyer et al., 2014; Rack et al., 2016).
Lymphoid malignancies in 5 (4 males and 1 female): 2 acute lymphoblastic leukemia (ALL) (1 with 1q12-21 breakpoint) (Busson-Le Coniat et al., 1999; Kim et al., 2011) 2 follicular lymphoma (Gray et al., 1997; Cheung et al., 2012) and 1 diffuse large B-cell lymphoma (DLBCL) (Jerkeman et al., 1999). |
| Epidemiology | 10 males and 8 females aged 21 to 81 years (median 69 years); male prevalence in patients with lymphoid malignancies (2 males in ALL and 3 males/1 female in lymphomas), aged 51, 69 and 71 years, 2 unknown. Patient with myeloid malignancies were aged 21, 68, 77 and 81 years, 1 unknown; the age of MM patients is unknown. |
| Prognosis | The Fanconi anemia patient received androgen therapy. He developed refractory anemia 4 years later that was treated with corticosteroids and antibiotics, but after recurrent infections he died from pneumonia 4 years later. The patient with acute monoblastic leukemia and t(11;19)(q23;p13) was treated with chemotherapy but failed to achieve remission; after receiving allogenic bone marrow transplant he is alive 23+ months. 2 AML patients had highly complex karyotypes, considered as an adverse prognostic factor in AML. Similarly, in patients with MM or lymphoid malignancies and highly complex karyotypes, the prognosis is likely unfavorable. |
| Interstitial telomere repeats in translocations of hematopoietic disorders |
| Busson Le Coniat M, Brizard F, Smadja NV, Maarek O, Der Sarkissian H, Berger R |
| Leukemia 2000 Sep;14(9):1630-3 |
| PMID 10995010 |
| |
| Genetic and clinical characterization of 45 acute leukemia patients with MLL gene rearrangements from a single institution |
| Cerveira N, Lisboa S, Correia C, Bizarro S, Santos J, Torres L, Vieira J, Barros-Silva JD, Pereira D, Moreira C, Meyer C, Oliva T, Moreira I, Martins , Viterbo L, Costa V, Marschalek R, Pinto A, Mariz JM, Teixeira MR |
| Mol Oncol 2012 Oct;6(5):553-64 |
| PMID 22846743 |
| |
| SNP analysis of minimally evolved t(14;18)(q32;q21)-positive follicular lymphomas reveals a common copy-neutral loss of heterozygosity pattern |
| Cheung KJ, Rogic S, Ben-Neriah S, Boyle M, Connors JM, Gascoyne RD, Horsman DE |
| Cytogenet Genome Res 2012;136(1):38-43 |
| PMID 22104078 |
| |
| Fluorescence in situ hybridization assessment of the telomeric regions of jumping translocations in a case of aggressive B-cell non-Hodgkin lymphoma |
| Gray BA, Bent-Williams A, Wadsworth J, Maiese RL, Bhatia A, Zori RT |
| Cancer Genet Cytogenet 1997 Oct 1;98(1):20-7 |
| PMID 9309114 |
| |
| Karyotype evolution in the bone marrow of a patient with Fanconi anemia: breakpoints in clonal anomalies of this disease |
| Huret JL, Tanzer J, Guilhot F, Frocrain-Herchkovitch C, Savage JR |
| Cytogenet Cell Genet 1988;48(4):224-7 |
| PMID 3248378 |
| |
| Prognostic implications of cytogenetic aberrations in diffuse large B-cell lymphomas |
| Jerkeman M, Johansson B, Akerman M, Cavallin-Ståhl E, Kristoffersson U, Mitelman F |
| Eur J Haematol 1999 Mar;62(3):184-90 |
| PMID 10089896 |
| |
| PAX5 deletion is common and concurrently occurs with CDKN2A deletion in B-lineage acute lymphoblastic leukemia |
| Kim M, Choi JE, She CJ, Hwang SM, Shin HY, Ahn HS, Yoon SS, Kim BK, Park MH, Lee DS |
| Blood Cells Mol Dis 2011 Jun 15;47(1):62-6 |
| PMID 21549623 |
| |
| Genomic profiling of myeloma: the best approach, a comparison of cytogenetics, FISH and array-CGH of 112 myeloma cases |
| Rack K, Vidrequin S, Dargent JL |
| J Clin Pathol 2016 Jan;69(1):82-6 |
| PMID 26338801 |
| |
| Chromosomal abnormalities in 478 children with acute myeloid leukemia: clinical characteristics and treatment outcome in a cooperative pediatric oncology group study-POG 8821 |
| Raimondi SC, Chang MN, Ravindranath Y, Behm FG, Gresik MV, Steuber CP, Weinstein HJ, Carroll AJ |
| Blood 1999 Dec 1;94(11):3707-16 |
| PMID 10572083 |
| |
| Jumping translocations of 1q12 in multiple myeloma: a novel mechanism for deletion of 17p in cytogenetically defined high-risk disease |
| Sawyer JR, Tian E, Heuck CJ, Epstein J, Johann DJ, Swanson CM, Lukacs JL, Johnson M, Binz R, Boast A, Sammartino G, Usmani S, Zangari M, Waheed S, van Rhee F, Barlogie B |
| Blood 2014 Apr 17;123(16):2504-12 |
| PMID 24497533 |
| |
| Hypodiploidy is a major prognostic factor in multiple myeloma |
| Smadja NV, Bastard C, Brigaudeau C, Leroux D, Fruchart C; Groupe Français de Cytogénétique Hématologique |
| Blood 2001 Oct 1;98(7):2229-38 |
| PMID 11568011 |
| |
