Boudjemaa Sabah, Petit Arnaud, Dainese Linda, Bourdeaut Franck, Lipsett Jill, Coulomb Aurore
1 Service d'Anatomie et de Cytologie Pathologiques, Hôpital d'Enfants Armand Trousseau, 26 Avenue du Dr Arnold Netter, 75571 Paris Cedex 12, France, and Université Pierre et Marie Curie, Paris 6, France.
3 Service d'Oncohématologie Pédiatrique, Hôpital d'Enfants Armand Trousseau, 26 Avenue du Dr Arnold Netter, 75571 Paris Cedex 12, France.
Pediatr Dev Pathol. 2015 Sep-Oct;18(5):401-4. doi: 10.2350/14-07-1533-CR.1. Epub 2015 Mar 9.
Soft tissue tumors arising in association with genetic or malformation syndromes have been increasingly reported. Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm of infancy and young childhood, characterized by typical morphology and biallelic inactivation of the SMARCB1 (INI1/hSNF5/BAF47) gene on chromosome 22q.2 which encodes a subunit of the SWI/SNF ATP-dependent chromatin remodeling complex. Congenital infantile disseminated MRT represents a unique clinicopathologic presentation of this tumor. We report a case occurring in a female neonate who presented at birth a voluminous left thigh mass. Surgical biopsy performed at day 9 showed morphology and immunoprofile of MRT. Staging evaluation identified hypercalcemia and distant nodules. The mass showed rapid growth. Despite chemotherapy, the tumor progressed with exteriorization through the biopsy scar. Chemotherapy was discontinued and treatment limited to palliative care and the child died on day 51. The tumor was homozygous for the SMARCB1 deletion with apparent de novo heterozygous germ line deletion in the infant, not identified in the parents.
越来越多的报道称，软组织肿瘤与遗传或畸形综合征相关。恶性横纹肌样瘤（MRT）是婴幼儿期一种侵袭性很强的肿瘤，其特征为典型形态以及22q.2染色体上SMARCB1（INI1/hSNF5/BAF47）基因的双等位基因失活，该基因编码SWI/SNF ATP依赖性染色质重塑复合体的一个亚基。先天性婴儿播散性MRT代表了这种肿瘤独特的临床病理表现。我们报告了一例发生在女新生儿的病例，该患儿出生时左大腿有一个巨大肿块。出生第9天进行的手术活检显示为MRT的形态和免疫表型。分期评估发现高钙血症和远处结节。肿块生长迅速。尽管进行了化疗，肿瘤仍通过活检瘢痕向外生长而进展。化疗停止，治疗仅限于姑息治疗，患儿于第51天死亡。肿瘤为SMARCB1缺失纯合子，婴儿存在明显的新生杂合子种系缺失，其父母未检测到。
