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Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Pulmonary Langerhans cell histiocytosis, acute myeloid leukemia, and myelofibrosis in a large family and review of the literature.
Leukemia Research 2018 April
BACKGROUND: There is mounting evidence that Langerhans cell histiocytosis (LCH) and acute myeloid leukemia (AML) are hematopoietic neoplasms that arise from the same myeloid precursor cell. In addition, studies suggest a relationship between LCH and primary idiopathic myelofibrosis (MF). Furthermore familial LCH, AML, and MF have each been reported.
METHODS: We examined more than 750 pedigrees of familial hematologic malignancies for evidence of familial LCH, AML, and/or MF and identified one family with all three neoplasms, which is presented here.
FINDINGS: In four generations of this large family there are five cases of AML in three generations, two cases of LCH in two generations and three cases of MF in two generations. Anticipation of -18 and -6 years was present in the patients with MF, and -8 years in the patients with LCH. Anticipation was also identified between one AML patient pair in generations III and IV (-18 years) and three patients with AML in generations II, III, and IV (-5 years and -10 years).
INTERPRETATION: This is the first report of familial LCH, AML, and MF in one family. The pedigree suggests a common basis for these entities, which is further suggested by the presence of anticipation in the pedigree.
METHODS: We examined more than 750 pedigrees of familial hematologic malignancies for evidence of familial LCH, AML, and/or MF and identified one family with all three neoplasms, which is presented here.
FINDINGS: In four generations of this large family there are five cases of AML in three generations, two cases of LCH in two generations and three cases of MF in two generations. Anticipation of -18 and -6 years was present in the patients with MF, and -8 years in the patients with LCH. Anticipation was also identified between one AML patient pair in generations III and IV (-18 years) and three patients with AML in generations II, III, and IV (-5 years and -10 years).
INTERPRETATION: This is the first report of familial LCH, AML, and MF in one family. The pedigree suggests a common basis for these entities, which is further suggested by the presence of anticipation in the pedigree.
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