Generalized infantile myofibromatosis with a monophasic primitive pattern

Hideto Iwafuchi, Toyonori Tsuzuki, Rieko Ito, Hiromu Miyake, Hajime Okita, Minoru Hamazaki

Research output: Contribution to journalArticle

Abstract

Infantile myofibromatosis (IM) is a rare disorder present at birth or in early infancy with a biphasic histological pattern. We present a neonatal-onset case of generalized IM with visceral (central nervous system, heart, lungs, liver, spleen, small intestine, kidneys and bones) and placental involvement, showing a monophasic histological pattern through the lesions during the course of disease. Histologically, the tumor was composed of a solid proliferation of cytologically uniform, 'primitive' mesenchymal cells associated with a hemangiopericytoma-like vascular pattern. Immunohistochemical analysis and ultrastructural study revealed that the tumor cells exhibited primitive features without mature myofibroblastic differentiation. Neither ETV6-NTRK3 nor ACTB-GLI fusion gene was identified. The patient died of cerebral hemorrhage and respiratory failure at four months of age despite intensive therapy. Generalized IM characterized by monophasic primitive pattern could be related to poor clinical outcome.

Original languageEnglish
Pages (from-to)432-437
Number of pages6
JournalPathology International
Volume65
Issue number8
DOIs
Publication statusPublished - 2015 Aug 1
Externally publishedYes

Fingerprint

Hemangiopericytoma
Gene Fusion
Autonomic Nervous System
Cerebral Hemorrhage
Respiratory Insufficiency
Small Intestine
Blood Vessels
Neoplasms
Spleen
Central Nervous System
Parturition
Kidney
Bone and Bones
Lung
Liver
Congenital Generalized Fibromatosis
Therapeutics

Keywords

  • CD105
  • Electron microscopy
  • Immunohistochemistry
  • Infantile myofibroma
  • Myofibromatosis
  • PDGFR beta
  • Placenta

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Generalized infantile myofibromatosis with a monophasic primitive pattern. / Iwafuchi, Hideto; Tsuzuki, Toyonori; Ito, Rieko; Miyake, Hiromu; Okita, Hajime; Hamazaki, Minoru.

In: Pathology International, Vol. 65, No. 8, 01.08.2015, p. 432-437.

Research output: Contribution to journalArticle

Iwafuchi, H, Tsuzuki, T, Ito, R, Miyake, H, Okita, H & Hamazaki, M 2015, 'Generalized infantile myofibromatosis with a monophasic primitive pattern', Pathology International, vol. 65, no. 8, pp. 432-437. https://doi.org/10.1111/pin.12312
Iwafuchi, Hideto ; Tsuzuki, Toyonori ; Ito, Rieko ; Miyake, Hiromu ; Okita, Hajime ; Hamazaki, Minoru. / Generalized infantile myofibromatosis with a monophasic primitive pattern. In: Pathology International. 2015 ; Vol. 65, No. 8. pp. 432-437.
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