演題詳細

ポスター / Poster

ポスター 51 (Poster 51) :小児血液 (Pediatric Blood)

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日程
2013年10月11日(金)
時間
16:50 - 17:50
会場
ポスター会場 / Poster (ロイトン札幌 3F エメラルドABCD)
座長・司会
遠藤 幹也 (Mikiya Endo):1
1:岩手医科大学 小児科学講座
 
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Acute lymphoblastic leukemia with microphthalmia with linear skin defects (MLS) syndrome

演題番号 : PS-1-387

大隅 朋生 (Tomoo Osumi):1、山崎 文登 (Fumito Yamazaki):1、永井 章 (Akira Nagai):2、弦間 友紀 (Yuki Gemma):1、増澤 亜紀 (Aki Masuzawa):1、宇野 光昭 (Teruaki Uno):1、寺島 慶太 (Keita Terashima):1、塩田 曜子 (Yoko Shioda):1、清谷 知賀子 (Chikako Kiyotani):1、中澤 温子 (Atsuko Nakazawa):3、清河 信敬 (Nobutaka Kiyokawa):4、森 鉄也 (Tetsuya Mori):1

1:Division of Pediatric Oncology, National Center for Child Health and Development、2:Department of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development、3:Department of Pathology, National Center for Child Health and Development、4:Department of Pediatric Hematology and Oncology Research, National Center for Child Health and Development

 

Microphthalmia with Linear Skin Defects (MLS) Syndrome is a rare and severe X-linked dominant male-lethal neurodevelopmental disorder characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck. Other associated characteristics include short stature, developmental delay, and agenesis of the corpus callosum. We report a case of acute lymphoblastic leukemia developed in a child with MLS syndrome. To the best of our knowledge, this is the first case report of MLS syndrome complicated with hematological malignancy. A 4-year-old girl, who was diagnosed as MLS syndrome in the newborn period, underwent a routine blood test, which revealed abnormal lymphoblasts. On bone marrow examination, a large number of leukemic lymphoblasts were present, comprising approximately 96.4 % of nucleated marrow cells. Flow cytometric immunophenotyping showed that the leukemic cells were positive for CD10, CD19, CD22, CD24 and HLA-DR. ETV6-RUNX1(TEL-AML1) fusion gene transcript was detected by RT-PCR assay. After induction therapy according to TCCSG L99-15 protocol, complete remission was achieved with no severe adverse event. The association between MLS syndrome and leukemogenesis is currently being studied by molecular biological analyses of her leukemic cells.

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