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Micromegakaryocytes in a patient with partial deletion of the long arm of chromosome 11 [del(11)(q24.2qter)] and chronic thrombocytopenic purpura

✍ Scribed by Gangarossa, Simone; Mattina, Teresa; Romano, Vincenzo; Milana, Gabriella; Mollica, Florindo; Schilirò, Gino

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
19 KB
Volume
62
Category
Article
ISSN
0148-7299

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✦ Synopsis

Thrombocytopenia or pancytopenia is frequently reported in patients with partial l l q deletion but there are no reports on bone marrow morphology of these patients. We report on a patient with partial deletion of the long arm of chromosome 11 Idel(l1) (q24.2qter)l and its classical clinical manifestations including chronic thrombocytopenic purpura in whom micromegakaryocytes were found in the bone marrow aspirate. This is the first report of the presence of micromegakaryocytes in the bone marrow of a patient with l l q deletion. Accurate examination of the bone marrow of other patients with the llq deletion may clarify whether the observation of micromegakaryocytes is common in these patients. Micromegakaryocytes may indicate a defect of development. T w o genes for two DNA binding proteins that are likely to be involved in hematopoiesis map in the l l q region: Ets-1, that maps to llq24, close to DllS912, and the nuclearfactor-related-kB gene that maps to 11q2-25.

It is possible that these genes, when present in only one copy, result in thrombocytopenia or pancytopenia as observed in this patient.

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