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pulmonary chondroid hamartoma

Wednesday 16 May 2007

Digital cases

- JRC:6371 : Lung hamartomatosis.
- JRC:6360: Pulmonary chondroid hamartoma.
- JRC:6362: Pulmonary chondroid hamartoma.

Synopsis

- cartilage
- reactive alveolar epithelium

  • hyperplastic type II cells

Localization

- trachea (15191028)

Variants

- salivary gland-type tumor (myoepithelioma) in PCH (16538059)

Differential diagnosis

- giant cystic chondroid hamartoma (GCCH) (15953880)

Cytogenetics

- 12q14 (HMGA2) rearrangements (44.7%) (14621194)

- 6p21 (HMGA1) rearrangements (21.3%) (14621194)

- 10q24 rearrangements (12699895)

- associated tetrasomy 8 (10469450)

Molecular biology

- LPP-HMGA2 fusion transcript by t(3;12)(q27-q28;q14-q15) (16271958, 12505264, 11890997, 11066083)

  • LPP at 3q28 (MIM.600700)
  • HMGA2 (HMGI-C) at 12q14 (MIM.600698)

- RAD51L1 by a t(6;14)(p21.3;q24) (11978964)

  • HMGA1 (HMGI-Y) at 6p21 (MIM.600701)
  • RAD51L1 at 14q24 (MIM.602948)

Differential diagnosis

- malignant chondroid syringoma (9196529)
- giant cystic chondroid hamartoma (GCCH) (15953880)

See also

- pulmonary hamartomas
- pulmonary tumors

References

- Kim GY, Han J, Kim DH, Kim J, Lee KS. Giant cystic chondroid hamartoma. J Korean Med Sci. 2005 Jun;20(3):509-11. PMID: 15953880

- Uzaslan E, Ebsen M, Freudenberg N, Nakamura S, Costabel U, Guzman J. Reactive alveolar epithelium in chondroid hamartoma of the lung.
Acta Cytol. 2005 Mar-Apr;49(2):154-6. PMID: 15839619

- Kayser K, Dunnwald D, Kazmierczak B, Bullerdiek J, Kaltner H, Zick Y, Andre S, Gabius HJ. Chromosomal aberrations, profiles of expression of growth-related markers including galectins and environmental hazards in relation to the incidence of chondroid pulmonary hamartomas. Pathol Res Pract. 2003;199(9):589-98. PMID: 14621194

- Gregori-Romero MA, Lopez-Gines C, Cerda-Nicolas M, Collado M, Llombart-Bosch A. Recombinations of chromosomal bands 10q24, 12q14-q15, and 14q24 in two cases of pulmonary chondroid hamartoma studied by fluorescence in situ hybridization. Cancer Genet Cytogenet. 2003 Apr 15;142(2):153-7. PMID: 12699895

- Lemke I, Rogalla P, Grundmann F, Kunze WP, Haupt R, Bullerdiek J. Expression of the HMGA2-LPP fusion transcript in only 1 of 61 karyotypically normal pulmonary chondroid hamartomas. Cancer Genet Cytogenet. 2002 Oct 15;138(2):160-4. PMID: 12505264

- Lemke I, Rogalla P, Bullerdiek J. A novel LPP fusion gene indicates the crucial role of truncated LPP proteins in lipomas and pulmonary chondroid hamartomas. Cytogenet Cell Genet. 2001;95(3-4):153-6. PMID: 12063392

- Blank C, Schoenmakers EF, Rogalla P, Huys EH, van Rijk AA, Drieschner N, Bullerdiek J. Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma. Cytogenet Cell Genet. 2001;95(1-2):17-9. PMID: 11978964

- Rogalla P, Lemke I, Bullerdiek J. Absence of HMGIC-LHFP fusion in pulmonary chondroid hamartomas with aberrations involving chromosomal regions 12q13 through 15 and 13q12 through q14. Cancer Genet Cytogenet. 2002 Feb;133(1):90-3. PMID: 11890997

- Rogalla P, Lemke I, Kazmierczak B, Bullerdiek J. An identical HMGIC-LPP fusion transcript is consistently expressed in pulmonary chondroid hamartomas with t(3;12)(q27-28;q14-15). Genes Chromosomes Cancer. 2000 Dec;29(4):363-6. PMID: 11066083

- Tallini G, Vanni R, Manfioletti G, Kazmierczak B, Faa G, Pauwels P, Bullerdiek J, Giancotti V, Van Den Berghe H, Dal Cin P. HMGI-C and HMGI(Y) immunoreactivity correlates with cytogenetic abnormalities in lipomas, pulmonary chondroid hamartomas, endometrial polyps, and uterine leiomyomas and is compatible with rearrangement of the HMGI-C and HMGI(Y) genes. Lab Invest. 2000 Mar;80(3):359-69. PMID: 10744071

- Kazmierczak B, Meyer-Bolte K, Tran KH, Wockel W, Breightman I, Rosigkeit J, Bartnitzke S, Bullerdiek J. A high frequency of tumors with rearrangements of genes of the HMGI(Y) family in a series of 191 pulmonary chondroid hamartomas. Genes Chromosomes Cancer. 1999 Oct;26(2):125-33. PMID: 10469450

- Kazmierczak B, Dal Cin P, Wanschura S, Borrmann L, Fusco A, Van den Berghe H, Bullerdiek J. HMGIY is the target of 6p21.3 rearrangements in various benign mesenchymal tumors. Genes Chromosomes Cancer. 1998 Dec;23(4):279-85. PMID: 9824199

- Hess JL. Chromosomal translocations in benign tumors: the HMGI proteins. Am J Clin Pathol. 1998 Mar;109(3):251-61. PMID: 9495195

- Kazmierczak B, Dal Cin P, Wanschura S, Bartnitzke S, Van den Berghe H, Bullerdiek J. Cloning and molecular characterization of part of a new gene fused to HMGIC in mesenchymal tumors. Am J Pathol. 1998 Feb;152(2):431-5. PMID: 9466569

- Xiao S, Lux ML, Reeves R, Hudson TJ, Fletcher JA. HMGI(Y) activation by chromosome 6p21 rearrangements in multilineage mesenchymal cells from pulmonary hamartoma. Am J Pathol. 1997 Mar;150(3):901-10. PMID: 9060828

- Grayson W, Leiman G, Cooper K. Exuberant fibroadenomatoid proliferation in a pulmonary mesenchymoma (hamartoma): report of a lesion mimicking a sclerosing pneumocytoma. Gen Diagn Pathol. 1997 Feb;142(3-4):247-52. PMID: 9065592

- Kazmierczak B, Wanschura S, Rommel B, Bartnitzke S, Bullerdiek J. Ten pulmonary chondroid hamartomas with chromosome 6p21 breakpoints within the HMG-I(Y) gene or its immediate surroundings. J Natl Cancer Inst. 1996 Sep 4;88(17):1234-6. PMID: 8780634

- Wanschura S, Kazmierczak B, Pohnke Y, Meyer-Bolte K, Bartnitzke S, Van de Ven WJ, Bullerdiek J. Transcriptional activation of HMGI-C in three pulmonary hamartomas each with a der(14)t(12;14) as the sole cytogenetic abnormality. Cancer Lett. 1996 Apr 19;102(1-2):17-21. PMID: 8603366

- Minoletti F, Sozzi G, Calderone C, Di Palma S, Pilotti S, Azzarelli A, Pierotti MA. Variant translocation t(6;10)(p21;q22) in pulmonary chondroid hamartoma. Genes Chromosomes Cancer. 1996 Apr;15(4):246-8. PMID: 8703850

- Kazmierczak B, Rosigkeit J, Wanschura S, Meyer-Bolte K, Van de Ven WJ, Kayser K, Krieghoff B, Kastendiek H, Bartnitzke S, Bullerdiek J. HMGI-C rearrangements as the molecular basis for the majority of pulmonary chondroid hamartomas: a survey of 30 tumors. Oncogene. 1996 Feb 1;12(3):515-21. PMID: 8637707

- Kazmierczak B, Wanschura S, Rosigkeit J, Meyer-Bolte K, Uschinsky K, Haupt R, Schoenmakers EF, Bartnitzke S, Van de Ven WJ, Bullerdiek J. Molecular characterization of 12q14-15 rearrangements in three pulmonary chondroid hamartomas. Cancer Res. 1995 Jun 15;55(12):2497-9. PMID: 7780955

- Fletcher JA, Longtine J, Wallace K, Mentzer SJ, Sugarbaker DJ. Cytogenetic and histologic findings in 17 pulmonary chondroid hamartomas: evidence for a pathogenetic relationship with lipomas and leiomyomas. Genes Chromosomes Cancer. 1995 Mar;12(3):220-3. PMID: 7536462

- Dal Cin P, Kools P, De Jonge I, Moerman P, Van de Ven W, Van den Berghe H. Rearrangement of 12q14-15 in pulmonary chondroid hamartoma. Genes Chromosomes Cancer. 1993 Oct;8(2):131-3. PMID: 7504517

- Fletcher JA, Pinkus GS, Donovan K, Naeem R, Sugarbaker DJ, Mentzer S, Pinkus JL, Longtine J. Clonal rearrangement of chromosome band 6p21 in the mesenchymal component of pulmonary chondroid hamartoma. Cancer Res. 1992 Nov 15;52(22):6224-8. PMID: 1423265