Journal of Pathology and Translational Medicine

Review

Molecular Testing of Lymphoproliferative Disorders: Current Status and Perspectives: Yoon Kyung Jeon, Sun Och Yoon, Jin Ho Paik, Young A Kim, Bong Kyung Shin, Hyun-Jung Kim, Hee Jeong Cha, Ji Eun Kim, Jooryung Huh, Young-Hyeh Ko; J Pathol Transl Med. 2017;51(3):224-241. Published online May 10, 2017; DOI: https://doi.org/10.4132/jptm.2017.04.09

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Molecular pathologic testing plays an important role for the diagnosis, prognostication and decision of treatment strategy in lymphoproliferative disease. Here, we briefly review the molecular tests currently used for lymphoproliferative disease and those which will be implicated in clinical practice in the near future. Specifically, this guideline addresses the clonality test for B- and T-cell proliferative lesions, molecular cytogenetic tests for malignant lymphoma, determination of cell-of-origin in diffuse large B-cell lymphoma, and molecular genetic alterations incorporated in the 2016 revision of the World Health Organization classification of lymphoid neoplasms. Finally, a new perspective on the next-generation sequencing for diagnostic, prognostic, and therapeutic purpose in malignant lymphoma will be summarized.

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Assessment of Bone Marrow Involvement in B‐Cell non‐Hodgkin Lymphoma Using Immunoglobulin Gene Rearrangement Analysis with Next‐Generation Sequencing
Min Ji Jeon, Eun Sang Yu, Dae Sik Kim, Chul Won Choi, Ha Nui Kim, Jung Ah Kwon, Soo‐Young Yoon, Jung Yoon
Journal of Clinical Laboratory Analysis.2024;[Epub] CrossRef
Thymus and lung mucosa-associated lymphoid tissue lymphoma with adenocarcinoma of the lung: a case report and literature review
Yu Pang, Daosheng Li, Yiqian Chen, Qinqin Liu, Yuheng Wu, Qingliang Teng, Yuyu Liu
World Journal of Surgical Oncology.2023;[Epub] CrossRef
Development and implementation of an automated and highly accurate reporting process for NGS-based clonality testing
Sean T. Glenn, Phillip M. Galbo, Jesse D. Luce, Kiersten Marie Miles, Prashant K. Singh, Manuel J. Glynias, Carl Morrison
Oncotarget.2023; 14(1): 450. CrossRef
A comparison of capillary electrophoresis and next-generation sequencing in the detection of immunoglobulin heavy chain H and light chain κ gene rearrangements in the diagnosis of classic hodgkin’s lymphoma
Juan-Juan Zhang, Yu-Xin Xie, Li-Lin Luo, Xuan-Tao Yang, Yi-Xing Wang, Yue Cao, Zheng-Bo Long, Wan-Pu Wang
Bioengineered.2022; 13(3): 5868. CrossRef
Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies
Jiwon Koh, Sun Ah Shin, Ji Ae Lee, Yoon Kyung Jeon
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Giulia Tadiotto Cicogna, Martina Ferranti, Mauro Alaibac
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Kappa and lambda immunohistochemistry and in situ hybridization in the evaluation of atypical cutaneous lymphoid infiltrates
Alexandra C. Hristov, Nneka I. Comfere, Claudia I. Vidal, Uma Sundram
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Primary lung mucosa-associated lymphoid tissue lymphoma accompanied by multiple sclerosis
Ke-Ke Yu, Lei Zhu, Ji-Kai Zhao, Rui-Ying Zhao, Yu-Chen Han
Chinese Medical Journal.2019; 132(13): 1625. CrossRef
Diagnostic accuracy of SOX11 immunohistochemistry in mantle cell lymphoma: A meta-analysis
Woojoo Lee, Eun Shin, Bo-Hyung Kim, Hyunchul Kim, Riccardo Dolcetti
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Views of dermatopathologists about clonality assays in the diagnosis of cutaneous T‐cell and B‐cell lymphoproliferative disorders
Nneka Comfere, Uma Sundram, Maria Yadira Hurley, Brian Swick
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A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?
Yuriy O. Alekseyev, Roghayeh Fazeli, Shi Yang, Raveen Basran, Thomas Maher, Nancy S. Miller, Daniel Remick
Academic Pathology.2018; 5: 2374289518766521. CrossRef

Case Report

Primary Pulmonary Myxoid Liposarcoma with Translocation t(12;16)(q13;p11) in a Young Female Patient: A Brief Case Report: Choonhee Son, Phil Jo Choi, Mee Sook Roh; Korean J Pathol. 2012;46(4):392-394. Published online August 23, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.4.392

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Abstract PDF

Primary liposarcoma of the lung is an extremely rare disease. To date, only 14 cases have been reported in the literature. We experienced a case of myxoid liposarcoma of the lung treated by surgery. The tumor was well-defined, solid, lobulated mass measuring 3.5×2 cm, involving the bronchus of the left lower lobe. Microscopically, myxoid liposarcoma was identified. The fluorescence in situ hybridization confirmed the presence of a reciprocal translocation involving DNA damage-inducible transcript 3 (DDIT3) and fused in sarcoma (FUS) genes. The patient is still alive with no recurrence or metastasis at the time of writing this report (on 20 months postoperatively). To our knowledge, this is the first cytogenetic case report of pulmonary myxoid liposarcoma.

Citations

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Primary intrathoracic liposarcomas: A clinicopathologic and molecular study of 43 cases in one of the largest medical centers of China
You Xie, Wenyi Jing, Wei Zhao, Ran Peng, Min Chen, Ting Lan, Heng Peng, Xin He, Huijiao Chen, Zhang Zhang, Hongying Zhang
Frontiers in Oncology.2022;[Epub] CrossRef
Primary Pulmonary Liposarcoma with Pancreatic Metastasis: A Rarest of Rare Intrathoracic Malignancy
Anirban Halder, Rituparna Biswas, Sujit Shukla, Nisha Rana, Vikas Yadav, Jaspreet Kaur
Indian Journal of Medical and Paediatric Oncology.2020; 41(04): 605. CrossRef
Primary dedifferentiated liposarcoma of the lung with rhabdomyoblastic and chrondroblastic differentiation
Anthony Longano, Alexandra DuGuesclin, Catherine Mitchell
Histopathology.2015; 67(6): 923. CrossRef

Original Articles

Diagnostic Value of MDM2 and DDIT3 Fluorescence In Situ Hybridization in Liposarcoma Classification: A Single-Institution Experience: Junhun Cho, Seung Eun Lee, Yoon-La Choi; Korean J Pathol. 2012;46(2):115-122. Published online April 25, 2012; DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.115

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Abstract PDF

Background

The amplification of murine double minutes (MDM2) is the primary feature of well-differentiated liposarcomas (WDLPS) and dedifferentiated liposarcomas (DDLPS), while DDIT3 rearrangement is the main one of myxoid liposarcomas (MLPS). Our aim was to evaluate the added value of MDM2 amplification and DDIT3 rearrangement in making a diagnosis and classifying lipogenic tumors.

Methods

Eighty-two cases of liposarcoma and 60 lipomas diagnosed between 1995 and 2010 were analysed for MDM2 amplification and DDIT3 rearrangement using a fluorescence in situ hybridization (FISH). The subtypes of liposarcoma were reclassified according to the molecular results, whose results were reviewed with an analysis of the relevant histologic and immunohistochemical findings.

Results

One case of lipoma (1.67%) was reclassified as a WDLPS. Of the liposarcomas, 13.4% (16/82) were reclassified after the molecular testing. Five cases of MLPS were reclassified as four cases of DDLPS and one case of myxoid lipoma. Two cases of WDLPS were reclassified as one case of spindle cell lipoma and another case of myxofibrosarcoma. Four cases of DDLPS were reclassified as two cases of leiomyosarcoma, one case of angiomyolipoma and another case of fibroinflammatory lesion. Of the six cases of pleomorphic liposarcoma, five were reclassified as DDLPS.

Conclusions

In our series, a critical revision of diagnosis was found at a rate of 3.5% (5/142) after a review of the lipomatous lesions. The uses of molecular testing by MDM2 and DDIT3 FISH were valuable to make an accurate subtyping of liposarcomas as well as to differentiate WDLPS from benign lipomatous tumor.

Citations

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Myxoid liposarcoma with nuclear pleomorphism: a clinicopathological and molecular study
Naoki Kojima, Takashi Kubo, Taisuke Mori, Kaishi Satomi, Yuko Matsushita, Shintaro Iwata, Yasushi Yatabe, Koichi Ichimura, Akira Kawai, Hitoshi Ichikawa, Akihiko Yoshida
Virchows Archiv.2024; 484(1): 71. CrossRef
FISH Diagnostic Assessment of MDM2 Amplification in Liposarcoma: Potential Pitfalls and Troubleshooting Recommendations
Alessandro Gambella, Luca Bertero, Milena Rondón-Lagos, Ludovica Verdun Di Cantogno, Nelson Rangel, Chiara Pitino, Alessia Andrea Ricci, Luca Mangherini, Isabella Castellano, Paola Cassoni
International Journal of Molecular Sciences.2023; 24(2): 1342. CrossRef
Expression of CTAG1B clone EPR13780 versus DDIT3 gene rearrangement distinguishes myxoid liposarcoma from its mimics with detection of novel DDIT3 gene copy number variations
Marwa M. Abdelaziz, Hanan Y. Tayel, Amany Abdel-Bary, Omnia M. Badawy
Journal of Histotechnology.2022; 45(2): 56. CrossRef
Musculoskeletal Tumors
Amit Singla, David S. Geller
Pediatric Clinics of North America.2020; 67(1): 227. CrossRef
Vulvar Myxoid Liposarcoma, an Extremely Rare Diagnosis: A Case Report and Review of Literature
Ligia Redroban, Nelson Montalvo
International Journal of Gynecological Pathology.2019; 38(1): 17. CrossRef
Molecular updates in adipocytic neoplasms✰
Elizabeth G. Demicco
Seminars in Diagnostic Pathology.2019; 36(2): 85. CrossRef
Application of MDM2 Fluorescence In Situ Hybridization and Immunohistochemistry in Distinguishing Dedifferentiated Liposarcoma From Other High-grade Sarcomas
Min Jeong Song, Kyung-Ja Cho, Jong-Seok Lee, Joon Seon Song
Applied Immunohistochemistry & Molecular Morphology.2017; 25(10): 712. CrossRef
FluorescenceIn SituHybridization forMDM2Amplification as a Routine Ancillary Diagnostic Tool for Suspected Well-Differentiated and Dedifferentiated Liposarcomas: Experience at a Tertiary Center
Khin Thway, Jayson Wang, John Swansbury, Toon Min, Cyril Fisher
Sarcoma.2015; 2015: 1. CrossRef

Prognostic Significance of Amplification of the c-MYC Gene in Surgically Treated Stage IB-IIB Cervical Cancer.: Tae Jung Kim, Ahwon Lee, Sung Jong Lee, Won Chul Lee, Yeong Jin Choi, Kyo Young Lee, Chang Suk Kang; Korean J Pathol. 2011;45(6):596-603.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.6.596

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Abstract PDF

BACKGROUND
Mutations of c-MYC have been described in cervical cancer. However, association between c-MYC gene status and its prognostic significance have not been clarified.
METHODS
Tissue microarray sections from 144 patients with stage IB-IIB cervical cancer treated by radical hysterectomy were analyzed by fluorescence in situ hybridization using a region-specific probe for c-MYC and a centromere-specific probe for chromosome 8.
RESULTS
Seventy five percent (108/144) of c-MYC gain and 6.9% (10/144) of c-MYC gene amplification were observed. c-MYC gene alteration was more frequently observed in squamous cell carcinoma than adenocarcinoma or adenosquamous carcinoma and were associated with low Ki67 labeling index (p=0.013). c-MYC amplification was not associated with clinicopathologic parameters except absence of bcl2 expression (p=0.048). Survival analysis revealed that patients with c-MYC amplification were significantly associated with higher risk of disease recurrence (p=0.007) and cancer related death (p=0.020). However, c-MYC gain was not associated with unfavorable outcome. Multivariate analysis proved c-MYC amplification as independent prognostic factors of shorter disease free survival and cancer-related death (p=0.028 and p=0.025, respectively).
CONCLUSIONS
c-MYC amplification, not gain, is an independent prognostic marker for shorter disease free and cancer specific survival in cervical cancer treated by radical hysterectomy.

Citations

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A Rare Case of Cutaneous Plasmacytosis in a Korean Male
Corey Georgesen, Meenal Kheterpal, Melissa Pulitzer
Case Reports in Pathology.2017; 2017: 1. CrossRef

HER2 Status in Gastric Adenocarcinomas Assessed by Immunohistochemistry, Automated Silver-Enhanced In Situ Hybridization and Fluorescence In Situ Hybridization.: Aeri Kim, Jung Min Bae, Se Won Kim, Mi Jin Gu, Young Kyung Bae; Korean J Pathol. 2010;44(5):493-501.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.5.493

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Abstract PDF

BACKGROUND
Recently, many studies have focused on human epidermal growth factor receptor 2 (HER2) status in gastric cancer due to HER2-targeted therapy using trastuzumab. We investigated HER2 overexpression and amplification and their concordance rate in Korean gastric adenocarcinomas.
METHODS
Tissue microarrays were constructed with 232 gastric adenocarcinoma samples. We performed immunohistochemistry (IHC), silver-enhanced in situ hybridization (SISH) and fluorescence in situ hybridization (FISH) for HER2.
RESULTS
IHC was negative in 94.8% (218/232), equivocal in 1.7% (4/232) and positive in 3.5% (8/232) of cases. HER2 protein expression was heterogeneous in 75% (9/12) of IHC 2+/3+ cancers. Gene amplification was observed in 6.5% (15/230) by SISH and the same 15 cases were also FISH-positive. We observed HER2 amplification in 1.4%, 27.3%, 25%, and 100% of IHC 0, 1+, 2+, and 3+ gastric adenocarcinomas, respectively. The concordance rate between IHC and SISH results was 95.7%.
CONCLUSIONS
HER2 overexpression and amplification were less frequent in gastric adenocarcinomas than breast carcinomas. Compared to breast carcinoma, (1) there may be IHC-negative but gene amplification-positive cases for HER2 and (2) frequent intratumoral heterogeneity of IHC for HER2 in gastric adenocarcinomas.

Citations

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Epidemiologic Study of Human Epidermal Growth Factor Receptor 2 Expression in Advanced/Metastatic Gastric Cancer: an Assessment of Human Epidermal Growth Factor Receptor 2 Status in Tumor Tissue Samples of Gastric and Gastro-Esophageal Junction Cancer
Kyung Won Seo, Taeyong Jeon, Sewon Kim, Sung Soo Kim, Kwanghee Kim, Byoung-Jo Suh, Sunhwi Hwang, SeongHee Choi, Seungwan Ryu, Jae Seok Min, Young-Joon Lee, Ye Seob Jee, Hyeondong Chae, Doo Hyun Yang, Sang Ho Lee
Journal of Gastric Cancer.2017; 17(1): 52. CrossRef
Synopsis on Clinical Practice Guideline of Gastric Cancer in Korea: An Evidence-Based Approach
Jun Haeng Lee, Jae G. Kim, Hye-Kyung Jung, Jung Hoon Kim, Woo Kyoung Jeong, Tae Joo Jeon, Joon Mee Kim, Young Il Kim, Keun Won Ryu, Seong-Ho Kong, Hyoung Il Kim, Hwoon-Yong Jung, Yong Sik Kim, Dae Young Zang, Jae Yong Cho, Joon Oh Park, Do Hoon Lim, Eun S
The Korean Journal of Gastroenterology.2014; 63(2): 66. CrossRef
Clinical Practice Guidelines for Gastric Cancer in Korea: An Evidence-Based Approach
Jun Haeng Lee, Jae G. Kim, Hye-Kyung Jung, Jung Hoon Kim, Woo Kyoung Jeong, Tae Joo Jeon, Joon Mee Kim, Young Il Kim, Keun Won Ryu, Seong-Ho Kong, Hyoung-Il Kim, Hwoon-Yong Jung, Yong Sik Kim, Dae Young Zang, Jae Yong Cho, Joon Oh Park, Do Hoon Lim, Eun S
Journal of Gastric Cancer.2014; 14(2): 87. CrossRef

Automated Silver-enhanced In Situ Hybridization for Evaluation of HER2 Gene Status in Breast Carcinoma: Comparison with Fluorescence In Situ Hybridization and Immunohistochemistry.: Woo Jung Sung, Seok Ju Park, Mi Jin Gu, Young Kyung Bae; Korean J Pathol. 2010;44(1):28-34.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.1.28

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Abstract PDF

BACKGROUND
The human epidermal growth factor receptor 2 (HER2) is amplified in 20-25% of breast cancers. HER2 overexpression or amplification is associated with a worse clinical outcome and it can predict the benefit from anthracycline and anti-HER2 therapies. The HER2 status has usually been assessed by immunohistochemistry (IHC) or fluorescence in situ hybridization (FISH) in clinical samples. A new silver-enhanced in situ hybridization (SISH) technique was recently introduced. Therefore we evaluated the usefulness of SISH for detecting HER2 amplification.
METHODS
Tissue microarrays (TMAs) were constructed with 144 invasive breast cancer tissue samples. We performed IHC, FISH and SISH for HER2 on the tissue sections from the TMAs and we interpreted the results according to the American Society of Clinical Oncology/College of American Pathologists (ASCO/CAP) guidelines. The concordant rates between the two different tests were calculated.
RESULTS
HER2 was overexpressed and amplified in 16.9%, 16.9%, and 18% of the cases by IHC, FISH and SISH, respectively. The concordant rates between IHC and FISH, IHC and SISH, and FISH and SISH were 95.1%, 95.7%, and 97.8%, respectively.
CONCLUSIONS
SISH can be an alternative test for evaluating HER2 amplification because the 97.8% concordance with FISH satisfies the ASCO/CAP requirement of > 95% concordance with an alternative validated method.

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Aeri Kim, Hyung Chan Shin, Young Kyung Bae, Min Kyoung Kim, Su Hwan Kang, Soo Jung Lee, Eun Hee Lee
Journal of Breast Cancer.2012; 15(1): 24. CrossRef
HER2-Positive Breast Carcinomas with Co-amplification or Gain of Chromosome 17 Centromere Locus: Report of Three Cases and an Impact on HER2 Testing
Hyeong Chan Shin, Young Kyung Bae, Aeri Kim, Seok Ju Park
The Korean Journal of Pathology.2011; 45(6): 665. CrossRef
The Effectiveness of SilverIn SituHybridization in Patients with Breast Cancer: A Systematic Review
Sunyoung Jang, Seon-Heui Lee, Soojin Kim, You-Kyoung Lee, Young-Hyuck Im, Wonshik Han, Hee-Sook Park
Journal of Breast Cancer.2011; 14(Suppl 1): S1. CrossRef
Clinical and health economic outcomes of alternative HER2 test strategies for guiding adjuvant trastuzumab therapy
James A Lee, Megan Shaheen, Thomas Walke, Matt Daly
Expert Review of Pharmacoeconomics & Outcomes Research.2011; 11(3): 325. CrossRef
HER2 expression in breast cancer: Comparisons of fluorescence in situ hybridization and silver in situ hybridization, and immunohistochemical staining using monoclonal antibody and polyclonal antibody
Jung Sik Jang, Eun Jeong Jang, Ji‐Young Park
Basic and Applied Pathology.2010; 3(4): 115. CrossRef
HER2Status in Gastric Adenocarcinomas Assessed by Immunohistochemistry, Automated Silver-EnhancedIn SituHybridization and FluorescenceIn SituHybridization
Aeri Kim, Jung Min Bae, Se Won Kim, Mi Jin Gu, Young Kyung Bae
The Korean Journal of Pathology.2010; 44(5): 493. CrossRef

Case Report

Intraneural Perineurioma in the Tongue: A Case Report.: Jun Kang, Shin Kwang Khang, Jene Choi, Jeong Won Kim, Eul Ju Seo, Bu kyu Lee, Eunsil Yu; Korean J Pathol. 2007;41(1):51-54.

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Abstract PDF: We report a case of an intraneural perineurioma that developed in an unusual location, the tongue. A 16-year-old male presented with a 1 cm sized protruding submucosal mass in his tongue without any sensory or motor signs or symptoms. The mass was excised. The mucosa was intact, with an ill-defined firm mass measuring 1.0 x 0.8 x 0.6 cm in the submucosa and muscle. The cut surface of the mass was pinkish gray and fibrotic. Microscopically, the mass contained tortuous and thickened peripheral nerve bundles in the submucosa, showing onion bulb like structures. The onion bulb like structures consisted of centrally located S-100 protein positive Schwann cells surrounded by Glut-1 positive perineurial cells. The FISH study did not reveal any genetic aberrations in chromosome 22.

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