FaCD Online Syndrome Fact Sheet

Last updated: 01 Jul 2008

Name: Histiocytosis, Malignant, Familial

Synonym: Familial Reticulum Cell Sarcoma

Mode of Inheritance: AD?/ multifact?

Tumor features

histiocytosis (reticuloendotheliosis), malignant

Comment

Many types of histiocytosis, including several hereditary types[1], exist and although many of them can be fatal, only Class III histiocytosis is regarded as neoplastic[2]. True histiocytic lymphoma (malignant histiocytosis, reticulum cell sarcoma) is probably rare. Most cases previously thought to be malignant histiocytosis have been reclassified as B-, T-, or null large cell lymphomas using modern immunophenotyping.

Escobar and Bixler[3] reported on a 6-generation family with 15 cases of what they classified in 1975 as ‘reticulum cell sarcoma’. Many of the patients also developed common type (adeno)carcinomas, the majority of these were diagnosed at normal ages, with the exception of 2 cases of colon cancer (42 and 46 years), lung cancer (32 years) and breast cancer (34 years). One of the early-onset colon cancer patients also developed an endometrial carcinoma. Although the family history is not typical for Lynch syndrome(HNPCC) or Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer it would be interesting to test this family for DNA mismatch repair deficiency.

References

[1] Spritz RA. The familial histiocytoses. Pediatr Pathol 1985; 3(1):43-57.
[2] Stephan JL. Histiocytoses. Eur J Pediatr 1995; 154(8):600-609.
[3] Escobar V, Bixler D. Familial reticulum cell sarcoma. Birth Defects 1976; 12(1):151-158.