Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Congenital myofibromatosis

Written2007-09Dina J Zand, Elaine H Zackai
Division of Genetics, Metabolism, Department of Pediatrics, Children's National Medical Center, Washington, DC, USA (DJZ); Division of Human, Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA (EHZ)

(Note : for Links provided by Atlas : click)


Other namesInfantile myofibromatosis
Mesenchymal hamartomatosis
Vascular leiomyoma of the newborn
Congenital generalized fibromatosis
Atlas_Id 10137
Genes implicated inNOTCH3   PDGFRB  
Inheritance Postulated as autosomal dominant (AD) with variable expression or autosomal recessive (AR).


Note Myofibromatosis or infantile myofibromatosis (IM) is one of the more common fibromatoses that present during childhood. Presentation may occur as an adult or even prenatally.
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.
  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 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.


Congenital generalized fibromatosis: an autosomal recessive condition?
Baird PA, Worth AJ
Clinical genetics. 1976 ; 9 (5) : 488-494.
PMID 1269171
A newborn with multiple fractures as first presentation of infantile myofibromatosis.
Buonuomo PS, Ruggiero A, Zampino G, Maurizi P, Attinà G, Riccardi R
Journal of perinatology : official journal of the California Perinatal Association. 2006 ; 26 (10) : 653-655.
PMID 17006529
Infantile myofibromatosis.
Chung EB, Enzinger FM
Cancer. 1981 ; 48 (8) : 1807-1818.
PMID 7284977
Infantile myofibromatosis. Evidence for an autosomal-dominant disorder.
Jennings TA, Duray PH, Collins FS, Sabetta J, Enzinger FM
The American journal of surgical pathology. 1984 ; 8 (7) : 529-538.
PMID 6742314
Infantile visceral myofibromatosis--a rare cause of neonatal intestinal obstruction.
Jones VS, Philip C, Harilal KR
Journal of pediatric surgery. 2007 ; 42 (4) : 732-734.
PMID 17448777
Cancer. 1965 ; 18 : 460-476.
PMID 14278043
Multicentric infantile myofibromatosis: two perinatal cases.
Pelluard-Nehmé F, Coatleven F, Carles D, Alberti EM, Briex M, Dallay D
European journal of pediatrics. 2007 ; 166 (10) : 997-1001.
PMID 17186271
Juvenile fibromatoses.
Cancer. 1954 ; 7 (5) : 953-978.
PMID 13199773
Monosomy 9q and trisomy 16q in a case of congenital solitary infantile myofibromatosis.
Sirvent N, Perrin C, Lacour JP, Maire G, Attias R, Pedeutour F
Virchows Archiv : an international journal of pathology. 2004 ; 445 (5) : 537-540.
PMID 15365831
del(6)(q12q15) as the sole cytogenetic anomaly in a case of solitary infantile myofibromatosis.
Stenman G, Nadal N, Persson S, Gunterberg B, Angervall L
Oncology reports. 1999 ; 6 (5) : 1101-1104.
PMID 10425309
Autosomal dominant inheritance of infantile myofibromatosis.
Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH
American journal of medical genetics. Part A. 2004 ; 126 (3) : 261-266.
PMID 15054839


This paper should be referenced as such :
Zand, DJ ; Zackai, EH
Congenital myofibromatosis
Atlas Genet Cytogenet Oncol Haematol. 2008;12(5):412-413.
Free journal version : [ pdf ]   [ DOI ]
On line version :

REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Dec 14 18:29:42 CET 2020

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us