Primary mediastinal germ cell tumor and clonally related and unique hematologic neoplasms with i(12p) and TP53 mutation: A report of two cases

Hong Fang; Gokce A. Toruner; Zhenya Tang; Guilin Tang; Annikka Weissferdt; Mehrnoosh Tashakori; Siba El Hussein; Beenu Thakral; Andres E. Quesada; Wei Wang; Keyur P. Patel; Guillermo Garcia-Manero; L. Jeffrey Medeiros; Carlos E. Bueso-Ramos; Fatima Zahra Jelloul

doi:10.1016/j.anndiagpath.2022.151951

Primary mediastinal germ cell tumor and clonally related and unique hematologic neoplasms with i(12p) and TP53 mutation: A report of two cases

Hong Fang, Gokce A. Toruner, Zhenya Tang, Guilin Tang, Annikka Weissferdt, Mehrnoosh Tashakori, Siba El Hussein, Beenu Thakral, Andres E. Quesada, Wei Wang, Keyur P. Patel, Guillermo Garcia-Manero, L. Jeffrey Medeiros, Carlos E. Bueso-Ramos, Fatima Zahra Jelloul

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Abstract

The development of clonally related hematologic neoplasms in the setting of primary mediastinal germ cell tumors (PMGCTs) has been recognized previously and is associated with a dismal prognosis. However, the presentation of hematologic neoplasms as chronic myelomonocytic leukemia (CMML) and hemophagocytic lymphohistiocytosis (HLH) has been rarely reported. Here we report two patients with PMGCTs and hematologic neoplasms. The PMGCT was composed mostly of yolk sac tumor whereas the hematologic neoplasms had morphologic features that resembled CMML and HLH. The hematologic neoplasms from both patients harbored isochromosome 12p [i(12p)] and TP53 mutations, supporting a clonal relationship between these tumors. This association represents a unique clinical syndrome that likely contributes to the poor clinical outcome of these patients.

Original language	English (US)
Article number	151951
Journal	Annals of Diagnostic Pathology
Volume	59
DOIs	https://doi.org/10.1016/j.anndiagpath.2022.151951
State	Published - Aug 2022

Bibliographical note

Publisher Copyright:
© 2022 Elsevier Inc.

Keywords

Hematologic neoplasm
Isochromosome 12p
Primary mediastinal germ cell tumor
TP53 mutation

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.anndiagpath.2022.151951

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Fang, H., Toruner, G. A., Tang, Z., Tang, G., Weissferdt, A., Tashakori, M., El Hussein, S., Thakral, B., Quesada, A. E., Wang, W., Patel, K. P., Garcia-Manero, G., Medeiros, L. J., Bueso-Ramos, C. E., & Jelloul, F. Z. (2022). Primary mediastinal germ cell tumor and clonally related and unique hematologic neoplasms with i(12p) and TP53 mutation: A report of two cases. Annals of Diagnostic Pathology, 59, Article 151951. https://doi.org/10.1016/j.anndiagpath.2022.151951

Fang, H, Toruner, GA, Tang, Z, Tang, G, Weissferdt, A, Tashakori, M, El Hussein, S, Thakral, B, Quesada, AE, Wang, W, Patel, KP, Garcia-Manero, G, Medeiros, LJ, Bueso-Ramos, CE & Jelloul, FZ 2022, 'Primary mediastinal germ cell tumor and clonally related and unique hematologic neoplasms with i(12p) and TP53 mutation: A report of two cases', Annals of Diagnostic Pathology, vol. 59, 151951. https://doi.org/10.1016/j.anndiagpath.2022.151951

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title = "Primary mediastinal germ cell tumor and clonally related and unique hematologic neoplasms with i(12p) and TP53 mutation: A report of two cases",

abstract = "The development of clonally related hematologic neoplasms in the setting of primary mediastinal germ cell tumors (PMGCTs) has been recognized previously and is associated with a dismal prognosis. However, the presentation of hematologic neoplasms as chronic myelomonocytic leukemia (CMML) and hemophagocytic lymphohistiocytosis (HLH) has been rarely reported. Here we report two patients with PMGCTs and hematologic neoplasms. The PMGCT was composed mostly of yolk sac tumor whereas the hematologic neoplasms had morphologic features that resembled CMML and HLH. The hematologic neoplasms from both patients harbored isochromosome 12p [i(12p)] and TP53 mutations, supporting a clonal relationship between these tumors. This association represents a unique clinical syndrome that likely contributes to the poor clinical outcome of these patients.",

keywords = "Hematologic neoplasm, Isochromosome 12p, Primary mediastinal germ cell tumor, TP53 mutation",

author = "Hong Fang and Toruner, {Gokce A.} and Zhenya Tang and Guilin Tang and Annikka Weissferdt and Mehrnoosh Tashakori and {El Hussein}, Siba and Beenu Thakral and Quesada, {Andres E.} and Wei Wang and Patel, {Keyur P.} and Guillermo Garcia-Manero and Medeiros, {L. Jeffrey} and Bueso-Ramos, {Carlos E.} and Jelloul, {Fatima Zahra}",

note = "Publisher Copyright: {\textcopyright} 2022 Elsevier Inc.",

year = "2022",

month = aug,

doi = "10.1016/j.anndiagpath.2022.151951",

language = "English (US)",

volume = "59",

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AU - Toruner, Gokce A.

AU - Tang, Zhenya

AU - Tang, Guilin

AU - Weissferdt, Annikka

AU - Tashakori, Mehrnoosh

AU - El Hussein, Siba

AU - Thakral, Beenu

AU - Quesada, Andres E.

AU - Wang, Wei

AU - Patel, Keyur P.

AU - Garcia-Manero, Guillermo

AU - Medeiros, L. Jeffrey

AU - Bueso-Ramos, Carlos E.

AU - Jelloul, Fatima Zahra

PY - 2022/8

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N2 - The development of clonally related hematologic neoplasms in the setting of primary mediastinal germ cell tumors (PMGCTs) has been recognized previously and is associated with a dismal prognosis. However, the presentation of hematologic neoplasms as chronic myelomonocytic leukemia (CMML) and hemophagocytic lymphohistiocytosis (HLH) has been rarely reported. Here we report two patients with PMGCTs and hematologic neoplasms. The PMGCT was composed mostly of yolk sac tumor whereas the hematologic neoplasms had morphologic features that resembled CMML and HLH. The hematologic neoplasms from both patients harbored isochromosome 12p [i(12p)] and TP53 mutations, supporting a clonal relationship between these tumors. This association represents a unique clinical syndrome that likely contributes to the poor clinical outcome of these patients.

AB - The development of clonally related hematologic neoplasms in the setting of primary mediastinal germ cell tumors (PMGCTs) has been recognized previously and is associated with a dismal prognosis. However, the presentation of hematologic neoplasms as chronic myelomonocytic leukemia (CMML) and hemophagocytic lymphohistiocytosis (HLH) has been rarely reported. Here we report two patients with PMGCTs and hematologic neoplasms. The PMGCT was composed mostly of yolk sac tumor whereas the hematologic neoplasms had morphologic features that resembled CMML and HLH. The hematologic neoplasms from both patients harbored isochromosome 12p [i(12p)] and TP53 mutations, supporting a clonal relationship between these tumors. This association represents a unique clinical syndrome that likely contributes to the poor clinical outcome of these patients.

KW - Hematologic neoplasm

KW - Isochromosome 12p

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KW - TP53 mutation

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Primary mediastinal germ cell tumor and clonally related and unique hematologic neoplasms with i(12p) and TP53 mutation: A report of two cases

Abstract

Bibliographical note

Keywords

UN SDGs

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