Skip to main content

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
  1. Note that cases of solitary IM (2 patients) and asymptomatic mutation carriers (2 patients) are not included. Mudry et al. described a family with 2 individuals affected by multicentric IM due to the mutation p.Arg561Ser, who are also not included in this list [28]