Infantile Myofibromatosis With Cutaneous, Visceral, and CNS Involvement: A Multimodal Approach to Therapy.

BACKGROUND: Infantile myofibromatosis (IM) is a rare benign tumor of infancy. Cases with solitary and multicentric disease usually spontaneously regress, but multicentric disease with visceral involvement carries a poor prognosis. Few cases of multicentric disease with central nervous system (CNS) involvement have been reported, and none report survival. OBSERVATIONS: We present a newborn with multicentric IM with cutaneous, visceral, and CNS involvement. She was treated with vinblastine, methotrexate, and the novel addition of intrathecal methotrexate with treatment response after 1 year of therapy. CONCLUSIONS: Multicentric IM with CNS involvement can be successfully treated with a multimodal approach of chemotherapy with the addition of intrathecal methotrexate and surgery.

Infantile myofibromatosis: Excellent prognosis but also rare fatal progressive disease. Treatment results of five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry.

BACKGROUND: Infantile myofibromatosis (IM) is a rare benign soft tissue tumor and often a self-limiting disease but rarely includes life-threatening complications. Little is known about optimal treatment of primary localized (LD) and multifocal disease (MFD). METHODS: Treatment and outcome of 95 children with IM registered within five Cooperative Weichteilsarkom Studiengruppe (CWS) trials and one registry (1981-2016) were evaluated. RESULTS: LD was diagnosed in 71 patients at a median age of 0.4 years (range 0.0-17.7). MFD was present in 24 patients. The mainstay of treatment was watch-and-wait strategy (w&w) after initial biopsy or resection. Low-dose chemotherapy (CHT) was administered to 16/71 (23%) patients with LD and eight of 24 (33%) patients with MFD, imatinib was added in two. A delayed resection was possible in eight of 71 (11%) and five of 24 (21%) patients with LD and MFD, respectively. Overall, patients were alive in complete remission (n = 77) and partial remission (n = 10) at a median follow-up time of 3.4 years after diagnosis (range 0.01-19.4); no data available (n = 5). Three patients died of progressive disease (PD) despite CHT. Gender, tumor size, and location correlated with a favorable event-free survival (EFS) in patients with LD. The 5-year EFS and overall survival of patients with LD were 73% (±12, confidence interval [CI] 95%) and 95% (±6, CI 95%), respectively; for MFD 51% (±22, CI 95%) and 95% (±10, CI 95%). CONCLUSION: Prognosis is excellent in patients with LD and MFD. Targeted treatment needs to be evaluated for rare fatal PD.

Gynecology and Oncology Fetal Myofibromatosis: A Challenge for Prenatal Diagnosis Mini Review of the English Literature.

IMPORTANCE: Infantile myofibromatosis (IM) is a benign neoplasm with a reported incidence of 1:150,000. The "solitary" type is characterized by a single lesion in the skin, muscle, or bone, whereas the "multicentric" type may also involve the viscera. OBJECTIVE: This report describes the prenatal diagnosis of IM and recommendations for future pregnancy follow-up. EVIDENCE ACQUISITION: This systematic search of the English literature yielded 8 reports documenting prenatal diagnosis of IM between 1999 and 2018. RESULTS: Fetal age at diagnosis ranged from 13 to 38 weeks of gestation. Seven cases were diagnosed in the third trimester (30-34 weeks). Five cases were of the "solitary" type, and all successfully underwent surgical removal of the tumor with a good outcome. Three were of the "multicentric" type, and the 1 infant presenting with diffuse disease died several weeks after delivery. CONCLUSION AND RELEVANCE: The prenatal diagnosis of IM is often not made until the third trimester following a normal second-trimester anomaly scan, likely due to development of this lesion over time. Women should be referred for genetic counseling and consideration of preimplantation genetic diagnosis following the delivery of an affected child with the autosomal recessive form of the disorder and identified causative pathogenic variants.

Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis.

We describe a rare neurointerventional complication, namely a stretched and sheared microcatheter, extending 52 cm from its point of retention within an Onyx cast in an infant patient's neck mass, to the groin. The tumor was an unusual manifestation of infantile myofibromatosis and prior attempts at resection had proven impossible due to bleeding. Recommendations regarding microcatheter selection, diagnostic workup, and management of the ensuing complication are given.

Infantile myofibroma: a case report and review of the literature.

This article presents a case report of a 37-week gestational age (GA) female infant (CK) whose first ultrasound at 35 weeks' GA revealed polyhydramnios, fetal ascites, and a possible diaphragmatic hernia. At birth, CK had a grossly distended abdomen, prominent abdominal veins, hepatomegaly, bounding femoral pulses, and generalized edema. Initial imaging identified an absent ductus venosus, absent segment of the inferior vena cava (IVC), and prominent superior vena cava to the right atrium. A computed tomography (CT) scan showed a mass contiguous with the liver causing compression of the IVC. Biopsy confirmed infantile myofibromatosis (IM), an uncommon soft tissue neoplasm that may present at birth or in early infancy. Although rare, this neoplasm is the most common fibrous tumor of infancy. The case of CK was unusual because the solitary IM lesion was in an atypical location; a solitary lesion is not commonly found in the viscera, and solitary lesions are predominant in males. Although lesions are often benign, visceral involvement is associated with high mortality. The cause is unknown, although familial cases have been reported. This article describes the key features of IM, possible treatment options, nursing care, and prognosis for infants with the disease.

Infantile myofibromatosis.

Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. We present the data from the 12 cases seen in our institute over the last 14 years and highlight three cases, the first a "typical" case, then a retroperitoneal myofibroma that presented with duodenal obstruction and finally one that presented as an isolated scrotal mass. We have also reviewed the literature on the subject.

Dermatomiofibromas múltiples / Multiple dermatomyofibromas

El dermatomiofibroma es un raro tumor cutáneo benigno y adquirido de reciente descripción. Clínicamente se caracteriza por ser una placa única, violácea, dura y bien delimitada, lineal en ocasiones, que se localiza preferentemente en la raíz de las extremidades superiores, axila y tórax, y suele aparecer con más frecuencia en mujeres jóvenes. La histología de la lesión muestra una proliferación no encapsulada y bien delimitada en la dermis reticular y parte superior del tejido celular subcutáneo de células fusiformes que se disponen en haces paralelos a la superficie cutánea y respetan los anejos cutáneos. Los estudios con inmunohistoquímica confirman el diagnóstico, con positividad para la actina muscular y la vimentina, y negatividad para la desmina, actina específica del músculo liso, factor XIIIa, CD34 y proteína S-100.Se describe un caso de dermatomiofibromas con clínica peculiar por la aparición progresiva de múltiples lesiones en una mujer de edad avanzada (AU)

Solitary infantile myofibromatosis: report of two cases.

Infantile myofibromatosis (IM) is an unusual tumor of infancy and early childhood. It typically presents as a solitary or multicentric nodular mass involving skin, soft tissue, bone, or viscera. We describe 2 cases of solitary infantile myofibromatosis (IM) of the soft tissue with typical light microscopic features. The first is a 7-month-old boy who had a rapidly growing tumor of the right thigh. The fragile tumor, measuring 7.0 x 6.0 x 3.5 cm was completely removed, but the patient was lost to follow-up after surgery. The second case, a 2-year-old boy, was referred from a local clinic due to a non-tender mass in the left abdominal wall. The tumor, measuring 2.0 x 2.0 x 1.6 cm, was completely excised. No recurrence or malignant transformation was found after 22 months of follow-up. The histopathologic, histochemical, and immunohistochemical features of the tumors were studied. Reticulin preparation showed that the tumor cells were outside the reticulin sheath of the vascular spaces and were individually enclosed by reticulin fibers. Tests for vimentin, anti-alpha-smooth muscle actin, and myoglobin were positive in the neoplastic spindle cells. IM has a variable appearance on radiologic images and often mimics an aggressive neoplasm. These factors can make a rapid and correct diagnosis difficult. IM must be considered in the differential diagnosis in any child who presents with either solitary or multiple tumors, particularly those occurring in the neonatal period.

Infantile myofibromatosis.

Infantile myofibromatosis (IMF) is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a multicentric form with widespread visceral involvement. It is characterised by its unique ability to spontaneously regress and has a typical histological appearance of actin-positive fibroblasts arranged in whorls or fascicles and vessels in a pericytomatous pattern. A male infant with multiple lesions involving the subcutaneous tissue and bone from birth is described and followed-up for two years. Treatment of IMF is dependent on the location of the tumour/s with surgery or chemotherapy reserved for rapidly progressive or symptomatic disease. However, due to the low rate of recurrence and the possibility of spontaneous tumoral regression, therapeutic abstention, as practised in our patient, is justified.

Multicentric infantile myofibromatosis.

Infantile myofibromatosis (IM) is a rare tumor of infancy and childhood, typically presenting as a firm, nodular mass involving soft tissue, bone or viscera. Approximately one-third of cases involve the head and neck. These tumors can be solitary or multicentric. Biopsy reveals tumor cells that resemble myofibroblasts. Spontaneous regression may occur. A high degree of suspicion is necessary to differentiate this entity from other more aggressive processes histiocytosis, fibrosarcoma, rhabdomyosarcoma. We describe the case of a male infant with multicentric myofibromatosis, presenting with multiple thoraco-abdominal subcutaneous nodules and lytic mass lesions of the temporal bone and calvarium. The characteristic clinical, radiologic and histopathologic features of this process are reviewed along with diagnostic and therapeutic options.

Miofibromatose congênita: relato de caso / Congenital miofibromatose: case report

Os autores apresentam um caso de miofibromatose congênita, cursando com tumoração em região escapular direita e comprometimento ósseo. O diagnóstico foi sugerido por exames de imagem: radiografia do esqueleto e ressonância nuclear magnética, e confirmado pelo estudo histopatológico da lesão. Por ser uma doença rara os autores fazem uma revisão bibliográfica, descrevendo aspectos de apresentação e evolução clínica da doença, avaliação diagnóstica, e abordagem terapêutica

Generalized infantile myofibromatosis in a patient with Turner's syndrome: a trial of interferon-alpha.

A patient with Turner's syndrome was found to have generalized infantile myofibromatosis with visceral involvement at birth. The infant was treated with interferon-alpha because of the size of the lesions. Two months after treatment, the lesions appeared to have decreased in size and showed evidence of maturation with decreased apoptosis on histologic examination. Interferon-alpha treatment might induce regression of myofibromatosis.

Cure of infantile myofibromatosis with severe respiratory complications without antitumour therapy.

UNLABELLED: The prognosis of infantile myofibromatosis (IMF) depends on the organs involved: the prognosis is very poor if vital viscera are affected, but excellent if there is no visceral involvement. We report the case of a boy presenting with a pathological fracture at the age of 6 weeks. Progressive osteolytic lesions in the whole skeleton until the age of 8 months led to respiratory failure due to a softened thoracic wall requiring mechanical ventilation for 11 months. No pulmonary, laryngeal or other visceral involvement was found. In spite of the rapidly progressing disease and serious complications only supportive therapy was given. The lesions subsided gradually leaving slight deformities but normal function. At the age of 3.5 years the boy has an excellent quality of life. CONCLUSION: This case illustrates that even in progressing, complicated multifocal infantile myofibromatosis (without visceral involvement) the lesions can resolve without antitumour treatment if high quality intensive care is supplemented.

Congenital hemangiopericytoma/infantile myofibromatosis: radical surgery versus a conservative "wait and see" approach.

Infantile/congenital hemangiopericytoma, although sharing many similar histological features with adult hemangiopericytoma, has a much better prognosis. Nevertheless, most cases described in the literature were pursued by radical surgery with or without adjuvant chemotherapy. We describe a neonate who presented with a huge mass in the right gluteus, 6 x 5 x 4 cm, and a small ventral abdominal mass. The masses were confirmed on biopsy according to light microscopy, immunohistochemistry, and electron microscopy as congenital hemangiopericytoma. They shrank spontaneously within 2 weeks and vanished within 2 months. We present a hypothesis that masses appearing in the neonatal period with this histology and with no life-endangering pressure on vital organs should routinely be dealt with conservatively.

The expandable metal stent for tracheal obstruction.

A 10 month old boy with stridor persisting from birth was found to have tracheal narrowing secondary to myofibromatosis of the tracheal wall. An expandable metal stent was positioned across the tracheal stenosis with immediate clinical improvement. There were no complications relating to stent insertion. The child remained clinically asymptomatic and repeat bronchoscopy at nine months' follow up showed that the stent had become completely endothelialised with no evidence of granuloma formation.