Table 4.

Characteristics of the recent largest published series of MH

Series of patientsNo. of primary/secondary MHNo. of localized/disseminated diseasePrevious or associated hematologic neoplasmKRAS, NRAS, BRAF, or MAP2K1 mutationPTPN11 mutation 
ALL/lymphomaMature B-cell lymphomaOtherIn primaryIn secondary
Boston, MA18  23/5 19/9 2 (2B) 9/24 3/4 2/24 
NIH, Bethesda, MD16,17  21/16 Not available 6 (4T & 2B) (2 children) 10 13/21 13/16 4/21 
Rochester, MN and Birmingham, AL,14,15  30/12 10/32 1 (1B) 9/16 5/5 2/16 
Total of published series 74/33 (primary 69%) 29/41 (localized 41%) 21 31/61 (51%) 21/25 (84%) 8/61 (13%) 
Present series 90/51 44/91 (localized 33%) 11 21 22/40 (55%) 28/31 (90%) 10/37 (27%) 
Total 164/66 (primary 71%) 73/132 (36%) 20 42 10 53/101 (52%) 49/56 (88%) 18/98 (18%) 
Series of patientsNo. of primary/secondary MHNo. of localized/disseminated diseasePrevious or associated hematologic neoplasmKRAS, NRAS, BRAF, or MAP2K1 mutationPTPN11 mutation 
ALL/lymphomaMature B-cell lymphomaOtherIn primaryIn secondary
Boston, MA18  23/5 19/9 2 (2B) 9/24 3/4 2/24 
NIH, Bethesda, MD16,17  21/16 Not available 6 (4T & 2B) (2 children) 10 13/21 13/16 4/21 
Rochester, MN and Birmingham, AL,14,15  30/12 10/32 1 (1B) 9/16 5/5 2/16 
Total of published series 74/33 (primary 69%) 29/41 (localized 41%) 21 31/61 (51%) 21/25 (84%) 8/61 (13%) 
Present series 90/51 44/91 (localized 33%) 11 21 22/40 (55%) 28/31 (90%) 10/37 (27%) 
Total 164/66 (primary 71%) 73/132 (36%) 20 42 10 53/101 (52%) 49/56 (88%) 18/98 (18%) 

CNS, central nervous system; ECD, Erdheim-Chester disease; NIH, National Institutes of Health.

PTPN11 mutations were detected only in primary MH.

Case 4915 is excluded because MH is indicated as secondary to ECD of the brain. There are no consensual criteria for diagnosis of ECD exclusively localized to CNS, and it seems difficult to exclude that it could not be MH of the CNS. Detection of a new somatic alteration in MH sample absent in an ECD sample would have been helpful.

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