Abstract
Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogenous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRGI gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.
| Original language | English |
|---|---|
| Pages (from-to) | 3-9 |
| Number of pages | 7 |
| Journal | Pediatric Pathology and Molecular Medicine |
| Volume | 22 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2003 |
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Keywords
- ATP6i gene
- Bone marrow transplantation
- Osteoclast
- Osteopetrosis
- TCIRGI gene
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Pediatrics, Perinatology, and Child Health
Cite this
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. / Brude, Elisabeth; Stallmach, Thomas; Peier, Karin; Superti-Furga, Andrea; Vezzoni, Paolo.
In: Pediatric Pathology and Molecular Medicine, Vol. 22, No. 1, 01.2003, p. 3-9.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation
AU - Brude, Elisabeth
AU - Stallmach, Thomas
AU - Peier, Karin
AU - Superti-Furga, Andrea
AU - Vezzoni, Paolo
PY - 2003/1
Y1 - 2003/1
N2 - Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogenous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRGI gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.
AB - Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogenous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRGI gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.
KW - ATP6i gene
KW - Bone marrow transplantation
KW - Osteoclast
KW - Osteopetrosis
KW - TCIRGI gene
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UR - http://www.scopus.com/inward/citedby.url?scp=84889142061&partnerID=8YFLogxK
U2 - 10.1080/15227950307700
DO - 10.1080/15227950307700
M3 - Article
C2 - 12687885
VL - 22
SP - 3
EP - 9
JO - Pediatric Pathology and Molecular Medicine
JF - Pediatric Pathology and Molecular Medicine
SN - 1522-7952
IS - 1
ER -