Transient monosomy 7

Mantadakis, Elpis; Shannon, Kevin; Singer, Dale; Finklestein, Jerry Z.; Chan, Ka Wah; Hilden, Joanne M.; Sandler, Eric

doi:10.1002/(sici)1097-0142(19990615)85:12<2655::aid-cncr23>3.0.co;2-w

Cited by 50 publications

(13 citation statements)

References 30 publications

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“…The clinical picture of these patients fits the previously described transient monosomy 7 syndrome; to our knowledge eight patients with primary MDS with transient −7 or del(7q) have been reported in the literature. 14 – 16 , 38 – 40 Their ages at diagnosis ranged from 8 months to 3 years, and spontaneous remission was achieved within 1–20 months from diagnosis. It seems that the −7 clones in our patients either vanished spontaneously or were outcompeted by “fitter” UPD7q-corrected clones with a diploid copy of the wild-type SAMD9L allele.…”

Section: Discussionmentioning

confidence: 99%

“… 13 However, transient monosomy 7 has occasionally been documented in childhood MDS. 14 – 16 Considering that complete (−7) and partial [del(7q)] deletion of chromosome 7 are common aberrations in MDS, extensive efforts have been undertaken to discern causative tumor suppressor genes located on chromosome 7. Asou and colleagues identified SAMD9 (Sterile Alpha Motif Domain-containing 9), its paralogue SAMD9L (SAMD9-like), and Miki/HEPACAM2 as commonly deleted genes within a 7q21 cluster in patients with myeloid neoplasia.…”

Section: Introductionmentioning

confidence: 99%

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Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

et al. 2017

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Familial myelodysplastic syndromes arise from haploinsufficiency of genes involved in hematopoiesis and are primarily associated with early-onset disease. Here we describe a familial syndrome in seven patients from four unrelated pedigrees presenting with myelodysplastic syndrome and loss of chromosome 7/7q. Their median age at diagnosis was 2.1 years (range, 1–42). All patients presented with thrombocytopenia with or without additional cytopenias and a hypocellular marrow without an increase of blasts. Genomic studies identified constitutional mutations (p.H880Q, p.R986H, p.R986C and p.V1512M) in the SAMD9L gene on 7q21, with decreased allele frequency in hematopoiesis. The non-random loss of mutated SAMD9L alleles was attained via monosomy 7, deletion 7q, UPD7q, or acquired truncating SAMD9L variants p.R1188X and p.S1317RfsX21. Incomplete penetrance was noted in 30% (3/10) of mutation carriers. Long-term observation revealed divergent outcomes with either progression to leukemia and/or accumulation of driver mutations (n=2), persistent monosomy 7 (n=4), and transient monosomy 7 followed by spontaneous recovery with SAMD9L-wildtype UPD7q (n=2). Dysmorphic features or neurological symptoms were absent in our patients, pointing to the notion that myelodysplasia with monosomy 7 can be a sole manifestation of SAMD9L disease. Collectively, our results define a new subtype of familial myelodysplastic syndrome and provide an explanation for the phenomenon of transient monosomy 7. Registered at: www.clinicaltrials.gov; #NCT00047268.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

et al. 2017

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“…5 In young children it is frequently associated with poor response to chemotherapy and death within 2 years of diagnosis due to progressive disease and associated infections and/or bleeding. 5 There are few case reports of spontaneous remission of monosomy 7 in non-SLE patients with only 1 report in the pediatric literature showing resolution of the monosomy 7 clone after immunosuppressive therapy in the setting of severe aplastic anemia. [4][5][6][7][8][9] Masayuki Nagasawa et al 4 reported a 2-year-old girl with monosomy 7 and severe aplastic anemia who presented with pancytopenia.…”

Section: Discussionmentioning

confidence: 99%

“…5 There are few case reports of spontaneous remission of monosomy 7 in non-SLE patients with only 1 report in the pediatric literature showing resolution of the monosomy 7 clone after immunosuppressive therapy in the setting of severe aplastic anemia. [4][5][6][7][8][9] Masayuki Nagasawa et al 4 reported a 2-year-old girl with monosomy 7 and severe aplastic anemia who presented with pancytopenia. Immunosuppressive therapy with cyclosporine and antithymocyte globulin improved pancytopenia and induced disappearance of monosomy 7 clone.…”

Section: Discussionmentioning

confidence: 99%

Autoimmune Myelofibrosis in a 12-Year-old Male With Monosomy 7, Systemic Lupus Erythematous and Lupus Nephritis: A Case Report and Review of the Literature

Español

Ehlayel

Marrero

et al. 2022

Journal of Pediatric Hematology/Oncology

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Complete or partial loss of chromosome 7 is a common and well-known cytogenetic abnormality associated with preleukemic myelodysplasia and myeloid leukemia but not with autoimmune myelofibrosis. Detection of this molecular change represents poor prognosis. When malignant transformation occurs, the condition tends to be chemotherapy-resistant requiring haematopoietic stem cell transplantation (HSCT) to obtain a cure. Disappearance after immunosuppressive therapy has been documented in children with hematological disorders but not in association with cyclophosphamide and systemic lupus erythematous.We present the interesting case of a 12-year-old male with monosomy 7, systemic lupus erythematous, and lupus nephritis with the resolution of the monosomy 7 and autoimmune myelofibrosis after treatment with cyclophosphamide, along with a review of the literature.

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“…Patients with advanced MDS are at risk for further disease progression and have an indication for early HSCT ( 114 ). In infants, monosomy 7 or del(7q) has also been reported to disappear spontaneously, however, only in rare cases ( 119 ).…”

Section: Acquired Disorders Of Hematopoiesismentioning

confidence: 99%

Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood

Erlacher

Strahm

2015

Front. Pediatr.

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Peripheral blood cytopenia in children can be due to a variety of acquired or inherited diseases. Genetic disorders affecting a single hematopoietic lineage are frequently characterized by typical bone marrow findings, such as lack of progenitors or maturation arrest in congenital neutropenia or a lack of megakaryocytes in congenital amegakaryocytic thrombocytopenia, whereas antibody-mediated diseases such as autoimmune neutropenia are associated with a rather unremarkable bone marrow morphology. By contrast, pancytopenia is frequently associated with a hypocellular bone marrow, and the differential diagnosis includes acquired aplastic anemia, myelodysplastic syndrome, inherited bone marrow failure syndromes such as Fanconi anemia and dyskeratosis congenita, and a variety of immunological disorders including hemophagocytic lymphohistiocytosis. Thorough bone marrow analysis is of special importance for the diagnostic work-up of most patients. Cellularity, cellular composition, and dysplastic signs are the cornerstones of the differential diagnosis. Pancytopenia in the presence of a normo- or hypercellular marrow with dysplastic changes may indicate myelodysplastic syndrome. More challenging for the hematologist is the evaluation of the hypocellular bone marrow. Although aplastic anemia and hypocellular refractory cytopenia of childhood (RCC) can reliably be differentiated on a morphological level, the overlapping pathophysiology remains a significant challenge for the choice of the therapeutic strategy. Furthermore, inherited bone marrow failure syndromes are usually associated with the morphological picture of RCC, and the recognition of these entities is essential as they often present a multisystem disease requiring different diagnostic and therapeutic approaches. This paper gives an overview over the different disease entities presenting with (pan)cytopenia, their pathophysiology, characteristic bone marrow findings, and therapeutic approaches.

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Transient monosomy 7

Cited by 50 publications

References 30 publications

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7

Autoimmune Myelofibrosis in a 12-Year-old Male With Monosomy 7, Systemic Lupus Erythematous and Lupus Nephritis: A Case Report and Review of the Literature

Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in Childhood

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