Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations

Muhammad A. Mir, Samith T. Kochuparambil, Roshini S. Abraham, Vilmarie Rodriguez, Matthew Howard, Amy P. Hsu, Amie E. Jackson, Steven M. Holland, Mrinal M Patnaik

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Guanine-adenine-thymine-adenine 2 (GATA2) mutated disorders include the recently described MonoMAC syndrome (Monocytopenia and Mycobacterium avium complex infections), DCML (dendritic cell, monocyte, and lymphocyte deficiency), familial MDS/AML (myelodysplastic syndrome/acute myeloid leukemia) (myeloid neoplasms), congenital neutropenia, congenital lymphedema (Emberger's syndrome), sensorineural deafness, viral warts, and a spectrum of aggressive infections seen across all age groups. While considerable efforts have been made to identify the mutations that characterize this disorder, pathogenesis remains a work in progress with less than 100 patients described in current literature. Varying clinical presentations offer diagnostic challenges. Allogeneic stem cell transplant remains the treatment of choice. Morbidity, mortality, and social costs due to the familial nature of the disease are considerable. We describe our experience with the disorder in three affected families and a comprehensive review of current literature.

Original languageEnglish (US)
Pages (from-to)490-499
Number of pages10
JournalCancer Medicine
Volume4
Issue number4
DOIs
StatePublished - Apr 1 2015

Fingerprint

Thymine
Guanine
Adenine
Mycobacterium avium Complex
Mutation
Warts
Lymphedema
Myelodysplastic Syndromes
Deafness
Infection
Acute Myeloid Leukemia
Dendritic Cells
Monocytes
Neoplasms
Stem Cells
Age Groups
Lymphocytes
Morbidity
Transplants
Costs and Cost Analysis

Keywords

  • GATA2
  • leukemia
  • lymphedema
  • MonoMAC
  • viral warts

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mir, M. A., Kochuparambil, S. T., Abraham, R. S., Rodriguez, V., Howard, M., Hsu, A. P., ... Patnaik, M. M. (2015). Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. Cancer Medicine, 4(4), 490-499. https://doi.org/10.1002/cam4.384

Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. / Mir, Muhammad A.; Kochuparambil, Samith T.; Abraham, Roshini S.; Rodriguez, Vilmarie; Howard, Matthew; Hsu, Amy P.; Jackson, Amie E.; Holland, Steven M.; Patnaik, Mrinal M.

In: Cancer Medicine, Vol. 4, No. 4, 01.04.2015, p. 490-499.

Research output: Contribution to journalArticle

Mir, MA, Kochuparambil, ST, Abraham, RS, Rodriguez, V, Howard, M, Hsu, AP, Jackson, AE, Holland, SM & Patnaik, MM 2015, 'Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations', Cancer Medicine, vol. 4, no. 4, pp. 490-499. https://doi.org/10.1002/cam4.384
Mir MA, Kochuparambil ST, Abraham RS, Rodriguez V, Howard M, Hsu AP et al. Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. Cancer Medicine. 2015 Apr 1;4(4):490-499. https://doi.org/10.1002/cam4.384
Mir, Muhammad A. ; Kochuparambil, Samith T. ; Abraham, Roshini S. ; Rodriguez, Vilmarie ; Howard, Matthew ; Hsu, Amy P. ; Jackson, Amie E. ; Holland, Steven M. ; Patnaik, Mrinal M. / Spectrum of myeloid neoplasms and immune deficiency associated with germline GATA2 mutations. In: Cancer Medicine. 2015 ; Vol. 4, No. 4. pp. 490-499.
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