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Year : 2022  |  Volume : 27  |  Issue : 6  |  Page : 756-759

Infantile myofibroma: A report of two cases with differential diagnoses

1 Department of Pathology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India
2 Department of Neonatology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal, India

Date of Submission20-Jan-2022
Date of Decision28-Feb-2022
Date of Acceptance26-Mar-2022
Date of Web Publication11-Nov-2022

Correspondence Address:
Uttara Chatterjee
Department of Pathology, Institute of Post Graduate Medical Education and Research, Kolkata, West Bengal
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jiaps.jiaps_14_22

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Infantile myofibromas (IMs) are benign soft-tissue tumors of children. They are of fibroblastic–myofibroblastic origin and show considerable morphological overlap with other spindle cell neoplasms. Here, we present two cases of solitary myofibromas, one in a neonate and one in a 2-year-old girl. A 2-day-old girl presented with severe respiratory distress and died during intubation. At autopsy, a myofibroma involving the oropharynx with extension up to the larynx was noted. Second case was a 2-year-girl with a myofibroma in the hard palate. IM must be differentiated from other benign and malignant spindle cell tumors of infancy and childhood. Oropharyngeal myofibroma should be considered in the differentials of neonatal respiratory distress.

Keywords: Congenital tumors, fibroblastic–myofibroblastic tumors, infantile myofibroma, oropharyngeal tumors

How to cite this article:
Dey S, Mandal B, Chatterjee U, Mukherjee S. Infantile myofibroma: A report of two cases with differential diagnoses. J Indian Assoc Pediatr Surg 2022;27:756-9

How to cite this URL:
Dey S, Mandal B, Chatterjee U, Mukherjee S. Infantile myofibroma: A report of two cases with differential diagnoses. J Indian Assoc Pediatr Surg [serial online] 2022 [cited 2022 Dec 7];27:756-9. Available from: https://www.jiaps.com/text.asp?2022/27/6/756/360947

   Introduction Top

Soft-tissue neoplasms are common in the children compared with adults and differ from adults in their histological spectrum. The benign spectrum is extremely wide and diverse. The diagnosis of these tumors can be difficult due to overlapping morphologies. Infantile myofibroma (IM) or myofibromatosis is a common fibromatosis of infancy and childhood.[1] Almost 90% of cases present within 2 years of age and over half are congenital.[1],[2] IMs are frequently underdiagnosed as it shows considerable morphological overlap with other benign and malignant soft-tissue tumors of childhood. Here, we describe two cases of IMs.

   Case Reports Top

Case 1

A 2-day-old girl came to our hospital with severe respiratory distress and stridor. Urgent intubation was tried and the procedure proved to be difficult. During manipulation, massive bleeding started from the surface of the mass obstructing the airway and the baby eventually died. At autopsy, oropharynx was full of blood clots and a large hemorrhagic mass measuring 3 cm × 3 cm was noted in oropharynx and extending into hypopharynx and larynx. Mass was excised and microscopic examination showed features of a spindle cell tumor with central dense and peripheral hypodense areas. Central dense areas consisted of plump spindle cells arranged in a hemangiopericytoma-like pattern. The tumor was seen to infiltrate into surrounding skeletal muscle fibers and entrap mucous glands. Immunohistochemically, the tumor cells were positive for smooth muscle antibody (SMA) and negative for desmin, myogenin, CD99, Bcl 2, S100, and CD34 [Figure 1] and [Figure 2]. On basis of these findings, a diagnosis of IM was made.
Figure 1: (a) Gross photograph of the specimen showing grey-brown mass in hypopharynx and larynx; inset shows hemorrhagic mass in oropharynx behind tongue (b) Scan power view of tumor with laryngeal muscles and thyroid cartilage, (H and E, ×40) (c) Low magnification showing biphasic pattern of tumor with entrapped pharyngeal glands (H and E stain, ×100) (d) Low magnification showing tumor and adjacent thyroid gland (H and E stain, ×100); inset shows high magnification view of the same (×400, H and E stain)

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Figure 2: (a) Low magnification of tumor showing central hemangiopeicytomatous areas (×100, H and E stain); inset shows low magnification of the same tumor with characteristic zonation (H and E stain, ×100) (b) High magnification of tumor showing plump oval to spindle cells arranged around one vascular space (H and E stain, ×400). (c) Low magnification showing desmin negative tumor along with immunopositive muscle fibers (×100). (d) High magnification of tumor showing patchy SMA positivity (×400)

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Case 2

A 2-year-old girl presented with a mass in the hard palate for 6 months. Computed tomography scan of the oral cavity revealed a heterogeneous mass with increased vascularity and a diagnosis of soft-tissue sarcoma possibly rhabdomyosarcoma was suggested. On excision, a poorly circumscribed mass measuring 3 cm × 2 cm was identified. It was a tan-colored mass with hemorrhagic areas. Microscopy revealed a tumor beneath the squamous epithelium, consisting of plump oval-to-spindle cells arranged in hemangiopericytomatous pattern. The peripheral areas had loose spindle cells. There was no evidence of increased mitosis or cytological atypia. Immunohistochemistry showed negativity for desmin, myogenin, CD 34, S100, and patchy positivity for SMA [Figure 3]. On basis of these findings, a diagnosis of IM was made. The child is doing well on a 4-year follow-up.
Figure 3: (a) Scan power view showing Overlying squamous epithelium and a tumor beneath it (×40, H and E stain) (b) Low magnification of tumor showing hypocellular areas in top right corner and hypercellular areas in bottom left corner (×100, H and E stain) (c) Low magnification view showing plump ovoid-to-spindle cells with hemangiopeicytomatous vessels (×100, H and E stain) (d) Low magnification view showing hypocellular areas consisting of loose spindle cells arranged in fascicles (H and E stain, ×100) (e) High magnification view showing both cell population (×400, H and E stain) (f) High magnification of tumor showing smooth muscle antibody positivity(×400)

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   Discussion Top

Soft-tissue tumors are one of the most common tumors of the pediatric population and account for 7%–10% of all pediatric tumors.[2] They cover a spectrum of benign, intermediate, and malignant neoplasms, although the most of the cases are benign. Although benign in nature, many of these lesions show high cellularity, mild atypia, and increased mitosis, making them difficult to differentiate from other malignant lesions. Immunohistochemistry is an essential adjunct in soft-tissue tumor diagnosis but many of these tumors do not express specific antigen and show variable and overlapping expression.[2],[3]

IM was first discussed by Stout in 1954 as “congenital generalized fibromatosis,” and was later termed as “infantile fibromatosis.”[4] IM, a common fibroblastic–myofibroblastic tumor of infancy, presents as solitary or multiple masses involving the skin, soft tissues, bones, or internal organs. It commonly affects the head and neck region of infants and young children, but can also affect adults. IM is classified into three clinical subgroups: (1) solitary IM; (2) multiple IM without visceral involvement; and (3) multiple IM with visceral involvement. In approximately 30% of IM cases, the lesions are multicentric and arise not only in the skin and soft tissues but also in the bone, lung, heart, and frequently in the gastrointestinal tract.[4],[5] IMs show equal sex predilection. Radiologically, IMs can be heterogeneous, poorly circumscribed, and show high vascularity. These features can lead to misdiagnosis as hemangioma or soft-tissue sarcoma of childhood.

The distinguishing histological feature of IM is the biphasic growth pattern. The plump spindle cells with tapering ends, present in the periphery are of myofibroblastic origin. The central zone is composed of primitive ovoid/spindle cells arranged around blood vessels in hemangiopericytomatous pattern. Histologically, IM needs to be differentiated from other spindle cell neoplasms of childhood. The common differentials of spindle cell tumor of infancy are fibrous hamartoma of infancy, infantile fibrosarcoma, lipofibromatosis, spindle cell rhabdomyosarcoma (RMS), primitive mesenchymal myxoid tumor of infancy, solitary fibrous tumor, nodular fasciitis, giant cell fibroblastoma, angiomatoid fibrous histiocytoma, and synovial sarcoma. As all these tumors show significant morphological overlap and immunohistochemical (IHC), markers are often used to distinguish them. It is evident that immunohistochemical methods also have a limitation due to overlapping expression and no single marker alone can reliably be used to validate the presumptive diagnosis.[5],[6],[7] Immunohistochemical features of IM are not specific. The tumor cells are vimentin and SMA positive and negative for CD34, S100, desmin, Bcl 2, and CD99.[8],[9] In the recent WHO classification of soft-tissue tumors, 2013 and 2020, IM has been grouped under tumors of pericytic origin.[10],[11]

The common causes of airway insufficiency in newborn are congenital malformation of craniofacial bones, pharynx, or larynx. Rare causes are anterior meningomyelocele, nasal glioma, nasopharyngeal teratoma, RMS, hemangioma, and rarely myofibroma.[12] So far, only three cases of myofibromas as extensive as to cause airway obstruction are described in the literature.[13],[14],[15] In our case, the mass involved the oropharynx and extended into the larynx close to thyroid cartilage to enclose laryngeal muscles and glands. Although benign in nature, due to vast extension and infiltrative pattern, complete excision is very difficult and these IMs tend to recur.

PDGFRB mutations have been identified in autosomal dominant myofibromatosis and sporadic multifocal varieties. IMs may regress over time due to tumor apoptosis or contraction of myofibroblasts. Small tumors are treated by conservative approach, whereas huge tumors usually need surgical resection. Inoperable tumors have been empirically treated with chemotherapy, vincristine, and actinomycin D.[16]

   Conclusion Top

Diagnosis of IM can be challenging because of morphological similarity with other spindle cell tumors of childhood. Careful assessment of histopathological features along with supportive immunohistochemistry is important for making the correct diagnosis. Oropharyngeal myofibroma should be considered a differential of airway obstruction in newborns and watchful microlaryngoscopy is needed to avoid any catastrophe.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Agaimy A, Michal M, Wick MR. Myofibroma and myofibromatosis. In: Elder DE, Massi D, Scolyer RA, Willemze R, editors. WHO Classification of Skin Tumours. 4th ed. Lyon: IARC Press; 2018. p. 322-3.  Back to cited text no. 1
Oudijk L, den Bakker MA, Hop WC, Cohen M, Charles AK, Alaggio R, et al. Solitary, multifocal and generalized myofibromas: Clinicopathological and immunohistochemical features of 114 cases. Histopathology 2012;60:E1-11.  Back to cited text no. 2
Agarwal H, Singh L, Gupta N, Sengar M. Non-malignant fibroblastic/myofibroblastic tumors in pediatric age group: Clues and pitfalls to the cytological diagnosis. Cytopathology 2020;31:115-21.  Back to cited text no. 3
Stout AP. Juvenile fibromatoses. Cancer 1954;7:953-78.  Back to cited text no. 4
Yu Z, Parham D. Soft tissue. In: Hussain A, editor. Biopsy Interpretation of Pediatric Lesions. Philadelphia: Wolters Kluwer Health; 2014. p. 118-49.  Back to cited text no. 5
Chaudhuri PM, Islam N, Das M, Chatterjee U, Datta C. Recurrent monophasic synovial sarcoma in a child. Indian J Pathol Microbiol 2019;62:643-5.  Back to cited text no. 6
[PUBMED]  [Full text]  
Maity P, Chatterjee U, Das M, Patra S. Recurrent giant cell fibroblastoma in an infant: A diagnostic challenge. Fetal Pediatr Pathol 2020;8:1-8.  Back to cited text no. 7
Kiyohara T, Maruta N, Iino S, Ido H, Tokuriki A, Hasegawa M. CD34-positive infantile myofibromatosis: Case report and review of hemangiopericytoma-like pattern tumors. J Dermatol 2016;43:1088-91.  Back to cited text no. 8
Ogita A, Ansai SI. Infantile myofibroma: Case report and review of the literature. J Nippon Med Sch 2021;87:355-8.  Back to cited text no. 9
Mentzel T, Bridge JA. Myopericytoma including myofibroma. In: Fletcher CD, Bridge JA, Hogendoorn PC, Mertens F, editors. World Health Organisation Classification of Tumours of Soft tissue and Bone. Lyon: IARC Press; 2013. p. 118-20.  Back to cited text no. 10
Mentzel T, Agaram NP. Myopericytoma, including myofibroma. In: Fletcher CD, Bridge JA, Hogendoorn PC, Mertens F, editors. World Health Organisation Classification of Tumours of Soft tissue and Bone. Lyon: IARC Press; 2020. p. 182-5.  Back to cited text no. 11
Das M, Mukherjee D, Gupta SD, Mukherjee S, Chatterjee U, Datta C. Congenital nasopharyngeal teratoma causing airway obstruction in the newborn. J Cancer Res Ther 2015;11:1040.  Back to cited text no. 12
Eze N, Pitkin L, Crowley S, Wilson P, Daya H. Solitary infantile myofibroma compromising the airway. Int J Pediatr Otorhinolaryngol 2004;68:1533-7.  Back to cited text no. 13
Lin HW, Jung D, Lee LN, Sadow PM, Rocco JW. Solitary myofibroma of the oropharynx causing airway obstruction in an adult. Ear Nose Throat J 2014;93:410-7.  Back to cited text no. 14
Garcia-Perla A, Belmonte-Caro R, Infante-Cossio P, Muñoz-Ramos M, Esteban-Ortega F. Upper airway distress due to an oropharyngeal infantile myofibroma. J Craniomaxillofac Surg 2012;40:e112-4.  Back to cited text no. 15
Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet 2013;92:1001-7.  Back to cited text no. 16


  [Figure 1], [Figure 2], [Figure 3]


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