Congenital myofibromatosis

2007-09-01 Dina J Zand , Elaine H Zackai Affiliation

Division of Genetics, Metabolism, Department of Pediatrics, Childrens National Medical Center, Washington, DC, USA (DJZ); Division of Human, Molecular Genetics, Department of Pediatrics, The Childrens Hospital of Philadelphia, Philadelphia, PA, USA (EHZ)

Identity

Name

Alias

Infantile myofibromatosis , Mesenchymal hamartomatosis , Hemangiopericytoma , Vascular leiomyoma of the newborn , Congenital generalized fibromatosis

Inheritance

Postulated as autosomal dominant (AD) with variable expression or autosomal recessive (AR).

Omim

228550 , 615293

Orphanet

2591 Infantile myofibromatosis

Umls

C0432284

Clinics

Hematoxylin and eosin staining of infantile myofibromatosis (IM) biopsies.

A: Family I (III-9), showing zonal pattern of spindle shaped cells with central necrosis and calcification. The lesion was subcutaneous scalp mass obtained at 4 months of age, and the diagnosis of IM was confirmed by outside consultation (Dr. C. Coffin, U. of Utah).

B: Family II (IV-6), shoulder lesion obtained at 3 months of age, but present since birth. The sample demonstrates prominent vascularity.

C: Family II (III-5), temporal lesion, biopsed at age 28 years. Diagnoses initially considered included fibroblastic meningioma, Schwanoma-neurilemmona, and IM. The patient has generalized IM confirmed by multiple other biopsies of the deltoid, axilla, and shoulders. Note the architectural similarity of (B) and (C) despite their different origins.

Neoplastic risk

Risk for neoplasm is considered to be very low. In those individuals who have multiple tumors, pathogenesis appears to be related to multifocal potential, not metastatic potential.

Treatment

Treatment is based solely upon clinical presentation. Those tumors causing secondary pathology via mass affect are commonly removed. Others may be watched due to their potential to regress.

Evolution

The evolution of the tumor is not well understood.
Pathologically, they are well circumscribed.
Histopathologically, hematoxylin and eosin (H and E) staining demonstrates growth in a zonal pattern with more primative appearing cells located centrally and spindle shaped cells peripherally. The spindle shaped cells resemble fibroblasts but are often arranged in a pattern similar to fascicles - thus resembling myocytes. As some tumors may grow rapidly, it is also common to see areas of central necrosis and calcification.

Prognosis

Prognosis is usually based upon the secondary complications caused by the tumors. Individuals with multiple tumors or visceral involvement tend to have more complications due to either number the increased number or increased possibility of poor location. In general, most individuals with uncomplicated presentations have a good prognosis.

Note

These tumors grow and regress without known initiation factors, and the diagnostic classification depends solely upon the location of the tumors. Individuals with Solitary IM only have tumor involvement of the soft tissues.
However, those individuals with Multiple IM have tumors within bone tissue, and those with Generalized IM demonstrate visceral tumors. Soft tissue involvement may occur in all three, and bone involvement may also be present in generalized IM.

Cytogenetics

Note

Unknown.
Only two cytogenetic abnormalities in IM tissue have been reported: Monosomy 9q\/trisomy 16q and an interstitial deletion on chromosome 6q. No comparison was made with the constitutive karyotype, and direct correlation was not able to be confirmed. It is presumed that the causative gene might allow for growth potential or affect cell cycle to account for the unique properties of both growth and regression of these tumors, but as of yet no gene has been identified.

Bibliography

Pubmed ID	Last Year	Title	Authors
1269171	1976	Congenital generalized fibromatosis: an autosomal recessive condition?	Baird PA et al
17006529	2006	A newborn with multiple fractures as first presentation of infantile myofibromatosis.	Buonuomo PS et al
7284977	1981	Infantile myofibromatosis.	Chung EB et al
6742314	1984	Infantile myofibromatosis. Evidence for an autosomal-dominant disorder.	Jennings TA et al
17448777	2007	Infantile visceral myofibromatosis--a rare cause of neonatal intestinal obstruction.	Jones VS et al
14278043	1965	CONGENITAL MESENCHYMAL TUMORS.	KAUFFMAN SL et al
17186271	2007	Multicentric infantile myofibromatosis: two perinatal cases.	Pelluard-Nehmé F et al
13199773	1954	Juvenile fibromatoses.	STOUT AP et al
15365831	2004	Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis.	Sirvent N et al
10425309	1999	del(6)(q12q15) as the sole cytogenetic anomaly in a case of solitary infantile myofibromatosis.	Stenman G et al
15054839	2004	Autosomal dominant inheritance of infantile myofibromatosis.	Zand DJ et al