Table 1 Clinical data on published cases of multicentric IM due to confirmed p.Arg561Cys germline mutation in the PDGFRB gene
From: Aggressive infantile myofibromatosis with intestinal involvement
Reference | Cases | Age at first presentation | Clinical manifestations | Outcome |
|---|---|---|---|---|
[9] | 10 individuals from 4 families | 3 weeks–4 years (indicated for 6 patients) | Multiple skin and subcutaneous myofibromas in all, orbital and supranasal mass in one patient | Spontaneous regression indicated for 5 patients, including 2 with documented remission at age 4 years, surgical excision in one patient, no further information |
[18] | 1 male infant | Birth | Skin, eye, bone, brain, heart, lung, and gastrointestinal involvement, intestinal obstruction and perforation, failure to thrive | Bowel resection, treatment with vinblastine and methotrexate, died in infancy due to cardiorespiratory failure |
[21] | 1 female adolescent | Infancy (< 24 months) | Multiple nodules in infancy, extradural tumor in the right posterior fossa at age 14 years | Spontaneous regression of manifestations in infancy, surgical excision of intracranial tumor |
[22] | 2 individuals from 1 family (mother and daughter) | Birth (both) | Mother: rectal bleeding after birth (no cause identified on endoscopy), multiple subcutaneous nodules in 1st year of life, spinal bone lesions, pancreas tumor at age 18 months Daughter: multiple subcutaneous nodules, intracranial mass originating from temporal bone at age 10 months | Mother: spontaneous regression at age 3 years, recurrence of subcutaneous tumors at age 24 years during pregnancy Daughter: spontaneous reduction of intracranial mass after 3 months, no information on further course |
[23] | 1 male adult | 19 years (age at diagnosis 34 years) | Multiple recurring cutaneous, pulmonary, cranial, intraspinal, and muscular paraspinal lesions | Sustained regression of most lesions 12 months after initiation of treatment with imatinib, multiple previous treatments (chemotherapy, surgery, stereotactic radiotherapy) |
[26] | 2 siblings | ♀: 5 months, ♂: birth | ♀: two congenital nodules ♂: multiple nodules and toe necrosis at birth, cranial tumor, and bone lesion in toe at age 11 months | ♀: surgical excision, no relapse to age 6 years ♂: no information on further course |
[27] | 2 individuals from 1 family | Not indicated | Severe refractory multicentric IM in index patient, no further information on clinical manifestations, congenital splenic tumor in the other patient | Treatment of index patient with vinblastine and methotrexate, no information on further course |