Myofibromatosis: Utility of fine needle aspiration cytology in the diagnosis of an underreported entity

Abstract

Myofibromatosis (MFS) was recognized as a distinct form of childhood fibromatosis. Infantile myofibromatosis (IMF) is now identified as a solitary or multicentric tumor that predominantly occurs in neonates and infants. The adult counterpart of IMF, though of rare occurrence, is identified and is known as MFS. Morphological diagnosis of MFS is made by histopathological examination of the biopsy or surgically excised mass and confirmed on the basis of specific immunoprofile. We report a case of multicentric MFS occurring in an adolescent in whom diagnosis was suggested on the basis of fine needle aspiration cytology (FNAC) that avoided surgical excision of multiple nodules. The diagnosis was later confirmed on histopathological study and contributory immunohistochemical markers. Details of the clinical features and cytological diagnosis of the case are provided to diminish the paucity of available literature on FNAC diagnosis of the rare disease.

Cytological diagnosis of angiomatoid fibrous histiocytoma: Report of a case and review of literature

“…Myofibroma can be a close differential and did merit consideration in our case as the cells in myofibroma are spindle‐shaped with round‐to‐ovoid nuclei and finely granular chromatin, admixed with few lymphocytes and blood vessels. The cells are, however, fibroblastic‐myofibroblastic and have bipolar cytoplasmic extensions, 14 while in AFH, cells are more histiocytoid in appearance. Benign fibrous histiocytoma may occur in the deep soft tissues, as well as skin and subcutis 15 .…”

Multiple pulmonary myofibromas mimicking metastatic disease in an adult patient

“…Common presentation of myofibromas on ultrasound is a well-defined thick-wall cystic lesion. On CT, myofibromas usually present as well-defined soft tissue nodules with central low attenuation, due to necrosis, and peripheral enhancement [1 , 4 , 9 , 10] . Magnetic resonance imaging appearance of myofibromas consists of low signal on T1-weighted imaging, high or low signal of the center on T2-weighted imaging, and peripheral enhancement after gadolinium administration [4] .…”

“…Diagnosis of myofibroma requires either biopsy or surgical excision with immuno-histochemical evaluation, which usually reveals positivity for vimentin, muscle-specific actin and myoglobin, and negativity for S100 protein, cluster of differentiation (CD) 68, and desmin, thus excluding tumors of neural, histiocytic, and smooth muscle origin [9] .…”