Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis

Cairoli, Roberto; Grillo, Giovanni; Beghini, Alessandro; Cornacchini, Giorgia; Larizza, Lidia; Morra, Enrica

doi:10.1038/sj.thj.6200348

Cited by 8 publications

(7 citation statements)

References 7 publications

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“…Germline mutations with a gain‐of‐function mutation can result in the familiar gastrointestinal stromal tumor (GIST) syndrome. Chronic myeloproliferative disorders on the basis of germline mutations in c‐kit are rare but cases of chronic myelogenous leukemia have been reported (20, 21).…”

Section: Tyrosine Kinasementioning

confidence: 99%

Gastrointestinal stromal tumors (GISTs): a review

Steigen¹,

Eide²

2009

APMIS

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Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms in the gastrointestinal tract, which, over the last 10 years, have emerged from a poorly understood neoplasm to a well-defined tumor entity exhibiting particular molecular abnormalities and for which promising novel treatment modalities have been developed. GISTs probably arise from the precursor cell of the interstitial cell of Cajal, express KIT tyrosine kinase in most of the cases and harbor mutations of importance for individualized treatment. The molecular targets for therapeutic interventions are not only of importance for the treatment of GIST patients but also useful for in the development of novel drug modalities and new strategies in basic cancer therapy.

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Section: Tyrosine Kinasementioning

confidence: 99%

Gastrointestinal stromal tumors (GISTs): a review

Steigen¹,

Eide²

2009

APMIS

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“…Two similar cases have been reported in the literature. Agis et al 19 reported a case of SM associated with CML, both processes supported by characteristic molecular analysis. In their patient, therapy with imatinib resulted in remission of both diseases.…”

Section: Discussionmentioning

confidence: 89%

“…In their patient, therapy with imatinib resulted in remission of both diseases. 20 Cairoli et al 19 reported a case of CML associated with c-kit gene mutation and transient marrow mastocytosis. 19 In previously reported cases of myelomastocytic leukemia, prognosis has been poor, with survival length of usually less than 1 year.…”

Section: Discussionmentioning

confidence: 99%

“…20 Cairoli et al 19 reported a case of CML associated with c-kit gene mutation and transient marrow mastocytosis. 19 In previously reported cases of myelomastocytic leukemia, prognosis has been poor, with survival length of usually less than 1 year. 7,9 In summary, this case represents an interesting stem-cell neoplasm biologically and clinically.…”

Section: Discussionmentioning

confidence: 99%

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Dasatinib-Responsive Mast Cell Neoplasms As Initial Presentation of Chronic Myelogenous Leukemia in Blast Phase

Vigil

Wang

Cortes

et al. 2011

JCO

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Case ReportA 50-year-old man presented with a 3-month history of left supraorbital mass, left leg pain, and walking difficulty; he denied symptoms of flushes, diarrhea, or syncope. On physical examination, the patient had a 2-cm firm, nontender mass centered at the junction of the left lateral and superior orbital walls. Patient did not have lymphadenopathy or organomegaly. The patient was a 30 pack per year smoker, and his medical history was not relevant. On admission, his WBC count was 8.7 ϫ 10 9 /L; hemoglobin, 11.7 g/dL; and platelets, 370 ϫ 10 9 /L. A peripheral blood cell differential was normal. Lactate dehydrogenase was normal, and tryptase level was slightly increased at 12.8 ng/dL. Radiologic studies revealed a lytic lesion involving the superior and lateral orbital walls (Fig 1), multiple lytic lesions in the left pelvis and left scapula, and a pathologic fracture of the left femoral head. Biopsies of the orbit, left femoral head lesion, and random iliac crest bone marrow were performed.Pathologic and cytogenetic findings. Excision of the left orbital mass showed an atypical mononuclear cell infiltrate with abundant eosinophils. The mononuclear cells showed scant to moderate cytoplasm with pale, coarse basophilic granules, which were better appreciated on a significant proportion of cells on touch imprints (Fig 2). These cells were strongly positive for CD117 and weakly positive for tryptase; approximately 15% were CD34ϩ.Biopsy of the left femur pathologic fracture revealed sheets of mononuclear cells, with focal tumor necrosis and stromal fibrosis. Similar to the mononuclear cells in the supraorbital mass, the mononuclear cells of the left femur contained basophilic and azurophilic granules, but the nuclei in the femur were oval to bilobed. Compared with the mononuclear cells of the orbital mass, the mononuclear cells of the femur were not only strongly positive for CD117 but also strongly positive for tryptase and negative for CD34.

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“…Case reports describing detection of both BCR-ABL translocation and codon 816 c-kit mutation in patients with SM-CML have been published. 42,43 The D816V c-kit mutation was detectable in mast cells microdissected from bone marrow but not in CD15 ϩ myeloid cells, suggesting the presence of two clones in one patient. 43 JAK2 V617F mutation associated with other classic myeloproliferative diseases is not commonly observed in mastocytosis.…”

Section: Mutations and Chromosomal Rearrangements Involving Genes Othmentioning

confidence: 99%

Molecular Diagnosis of Mast Cell Disorders

Akin

2006

The Journal of Molecular Diagnostics

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Mastocytosis is a disease characterized by pathological mast cell accumulation and activation in tissues. Most patients with mastocytosis exhibit the D816V point mutation in the tyrosine kinase domain of the transmembrane receptor protein Kit, leading to its constitutive activation in bone marrow or lesional skin tissue. Detection of a codon 816 c-kit mutation is included as a minor diagnostic criterion in the World Health Organization's diagnostic criteria for systemic mastocytosis. Determining mutational status of the c-kit gene also has pharmacogenomic implications in patients considered for investigational mast cell cytoreductive therapies. This article reviews diagnostic and therapeutic implications of c-kit mutations as well as other less common molecular abnormalities observed in mast cell disease.

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Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis

Cited by 8 publications

References 7 publications

Gastrointestinal stromal tumors (GISTs): a review

Gastrointestinal stromal tumors (GISTs): a review

Dasatinib-Responsive Mast Cell Neoplasms As Initial Presentation of Chronic Myelogenous Leukemia in Blast Phase

Molecular Diagnosis of Mast Cell Disorders

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