Q309 – 378: Myelodysplastic Diseases

*Transformation to AML
If the recipient is receiving an infusion for AML that has transformed from MDS, the primary disease for infusion must be reported as AML. Both the AML and MDS sections of the Disease Classification (2402) will be completed.

The myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell diseases characterized by cytopenia(s), dysplasia (abnormal growth or development leading to an alteration in size, shape, and organization of the cell) in one or more of the major myeloid cell lines (WBC, RBC, and/or platelets), ineffective hematopoiesis, and an increased risk of developing acute myelogenous leukemia (AML). MDS occurs primarily in older adults, with a median age of 70 years. The majority of recipients present with symptoms related to cytopenias. Most recipients present with anemia requiring RBC transfusions.

Primary or de novo MDS occurs without a known history of chemotherapy or radiation exposure. Some inherited hematologic disorders, such as Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome, and Diamond-Blackfan syndrome are associated with an increased risk of MDS.

Question 1: Date of diagnosis of primary disease for infusion

Report the date of the first pathological diagnosis (e.g., bone marrow or tissue biopsy) of the disease. Enter the date the sample was collected for examination. If the diagnosis was determined at an outside center, and no documentation of a pathological or laboratory assessment is available, the dictated date of diagnosis within a physician note may be reported. Do not report the date symptoms first appeared.

If the recipient’s MDS progressed to from a lower grade MDS to a higher grade MDS, report the diagnosis date of the original MDS diagnosis (i.e., the lower MDS grade). The transformation date (i.e., diagnosis of the higher grade) is captured below.

If the recipient’s MDS transformed to AML prior to HCT, report the diagnosis date of AML and ensure the primary disease for infusion is reported as AML. Ensure AML section of the Disease Classification (2402) is completed appropriately. The MDS diagnosis date is captured below.

If the exact diagnosis date is not known, use the process described in General Instructions, Guidelines for Completing Forms

*Atypical CML
Atypical CML is no longer reported as Other leukemia and should be reported as MDS as of October 2024. If the primary disease for infusion is ‘atypical CML’ report the disease classification as* Myelodysplastic / myeloproliferative neoplasm with neutrophilia*.

Question 309: What was the MDS subtype at diagnosis?

CIBMTR captures the MDS classification based on the World Health Organization (2022) WHO classification. Indicate the MDS subtype at diagnosis.

Report the most specific entity that applies to the recipient. For example, if the recipient was classified using both defining genetic abnormalities and differentiation, the defining genetic abnormality classification should be reported for classification purposes. Additionally, if the recipient meets the criteria for MDS-5q, MDS-SF3B1, and MDS-biTP53 report the disease subtype as MDS-biTP53.

In some cases, disease specific cytogenetic and / or molecular abnormalities are not identified at the initial diagnosis but identified at some point prior to the infusion, report the most disease specific entity. Review the example below for further clarification:

• Example 1: A recipient diagnosed with MDS had only a bone marrow biopsy and karyotyping performed at diagnosis. The bone marrow identified MDS with low blasts and karyotyping was normal. Induction began and additional FISH testing for deletion 5q was completed after starting treatment which identified deletion 5q. The disease classification should be reported as Myelodysplastic syndrome with low blasts and isolated 5q deletion.
  

!Subsequent Infusion and Therapy Related and Predisposing Conditions
If this is a subsequent infusion for the same disease, the Was the disease therapy related and Did the recipient have predisposing condition questions are disabled.

Question 310: Was the disease (MDS) therapy-related?

Agents such as radiation or systemic therapy used to treat other diseases (e.g., Hodgkin lymphoma, non- Hodgkin lymphoma, or breast cancer) can damage the marrow and lead to a secondary malignancy, such as MDS.

Specify if the diagnosis of MDS is therapy related. If the diagnosis of MDS is not therapy-related or it is not known, select No or Unknown, respectively. If documentation is not clear if MDS was therapy related, seek clinician clarification.

Do not report Yes if the recipient developed MDS after an environmental exposure (e.g., exposure to benzene).

*ET or PCV to MDS Transformation
In the rare event MDS transformed from ET or PCV, report Yes there was a predisposing condition and specify the condition as Essential thrombocythemia or Polycythemia vera. Do not report there was a disease transformation below.

Question 311: Did the recipient have a predisposing condition?

A predisposing condition contributes to the susceptibility of developing MDS. Therefore, diagnosis of the condition increases the likelihood that the recipient will develop MDS. If the recipient has a documented history of predisposing condition, select Yes. If there is no history of predisposing condition or if predisposition is unknown, indicate No or Unknown.

Questions 312 – 313: Specify MDS predisposing condition

Specify the recipient’s predisposing condition.

If the recipient had a predisposing condition not listed above, select Other condition and specify the condition.

A list of entities that would fall into the Other condition category include: ETV6-related familial thrombocytopenia, ANKRD26-related familial thrombocytopenia, SRP72-related familial aplastic anemia/MDS, MBD4-related familial leukemia, Bloom Syndrome, Noonan Syndrome, Neurofibromatosis, Downs Syndrome, ATG2B/GSKIP duplication (chromosome 14q32.2), MECOM-associated syndrome, Essential Thrombocythemia (ET), Polycythemia vera (PCV).

!Subsequent Infusions and Assessments At Diagnosis
If this is a subsequent infusion for the same disease, the assessments reported at diagnosis are disabled.

*Laboratory Studies at Diagnosis of MDS
Report laboratory results closest to the diagnosis date prior to the start of first treatment of the primary disease for which the infusion is being performed. If the recipient’s MDS transformed, report the studies from the original MDS diagnosis, prior to transformation.

*Reporting Blasts Percentage
If the bone marrow pathology report states a range for blasts, enter the average of the range rounded to the nearest whole number (e.g., if 0-5%, enter 3%).
If the report indicates “sheets of blasts” or “packed marrow,” report 100%.
If the report states > n% blasts, enter (n+1)% on the form. For example, if the laboratory report indicates > 90% blasts, report 91%.
If the report states < n% blasts, enter (n-1)% on the form. For example, if the laboratory report indicates < 5% blasts, report 4%.

Questions 314 – 315: Blasts in bone marrow (at diagnosis)

Indicate whether the percentage of blasts in the bone marrow was known at diagnosis. If Known, report the percentage documented on the laboratory report.

If the lab was assessed multiple times prior to starting treatment, report the values closest to the diagnosis date.

If multiple methods were used to detect the percentage of blasts in the bone marrow, the aspirate differential is the preferred method; followed by flow cytometry and IHC (immunohistochemical staining).

Questions 316 – 324: Complete blood count (CBC) results available (check all that apply) (at diagnosis)

These questions are intended to capture the laboratory studies performed at the initial diagnosis of MDS. Report the date of the CBC completed closest to the diagnosis date and select all lab values assessed on the reported date. All values must reflect testing performed prior to the start of the first treatment of the primary disease for infusion. If the recipient’s MDS transformed, report the studies from the original diagnosis. If labs were assessed multiple times prior to starting treatment, report the values closest to the diagnosis date.

• WBC: The white blood cell count is a value that represents all of the white blood cells in the blood. If the count is too high or too low, the ability to fight infection may be impaired. If known, specify the value and units of measurement as documented on the lab report.
• Neutrophils: Neutrophils are a subtype of white blood cell that fights infection. The value on the laboratory report may be a percentage or an absolute value. If an absolute value is reported, divide it by the white blood cell count for a percentage. Neutrophils are also known as polymorphonuclear leukocytes (PMNs). If known, specify the percentage as documented on the lab report.
• Blasts in blood: Blasts are not typically found in the peripheral blood; however, can appear for various reasons, including infection, blood cancer, or blood disorder. If known, report the percentage of blasts detected in the blood.
  • If a differential was performed and the percentage of plasma cells are not listed, report 0%.
• Hemoglobin: Hemoglobin is a molecule in red blood cells that delivers oxygen to tissues throughout the body. A low hemoglobin count is considered “anemia” and blood transfusions, or growth factors may be required to increase the hemoglobin level. If known, specify the value and units of measurement as documented on the lab report. Additionally, indicate if red blood cells were transfused < 30 days prior to the CBC date reported above.
  • Transfusions temporarily increase the red blood cell count, and it is important to distinguish between a recipient whose body is creating these cells and a recipient who requires transfusions to support the counts.
• Platelets: Platelets are formed elements within the blood that help with coagulation. A low platelet count, called thrombocytopenia, may lead to easy bleeding or bruising. Thrombocytopenia may require platelet transfusions. If known, specify the value and unites of measurement as documented on the lab report. Additionally, indicate if platelets were transfused < seven days prior to the CBC date reported above.
  • Transfusions temporarily increase the platelet count, and it is important to distinguish between a recipient whose body is creating these cells and a recipient who requires transfusions to support the counts.

If a CBC was not completed at diagnosis or unknown if completed, select None.

If the exact sample collection date is not known, use the process described in General Instructions, Guidelines for Completing Forms.

Question 325: Were cytogenetics tested (karyotyping or FISH)? (at diagnosis)

Cytogenetics is the study of chromosomes. Cytogenetic assessment involves testing blood or bone marrow for the presence of known chromosomal abnormalities that reflect the recipient’s disease.

Testing methods include conventional chromosome analysis (karyotyping) or fluorescence in situ hybridization (FISH). For more information about cytogenetic testing and terminology, see Appendix C: Cytogenetics.

Indicate if cytogenetic studies were obtained at diagnosis. If cytogenetic studies were obtained, select Yes. If no cytogenetic studies were obtained, or it is unknown if chromosome studies were performed, select No or Unknown, respectively.

Question 326: Were cytogenetics tested via FISH? (at diagnosis)

Specify if FISH studies were performed at diagnosis. If FISH studies were not performed at diagnosis, FISH samples were inadequate, or the result ‘failed,’ report No.

If it is not known if it was performed, report Unknown.

Report chromosomal microarrays / chromosomal genomic arrays as FISH assessments.

Question 327: Sample source

The cytogenetic sample source is important for MDS research. Indicate if the sample was from Bone marrow or from Blood. If FISH studies were performed on multiple samples at diagnosis, the bone marrow results are the preferred sample source to report.

Question 328: Results of tests

Specify if FISH abnormalities were detected at diagnosis.

!International System for Human Cytogenetic Nomenclature (ISCN) Compatible String
The International System for Human Cytogenetic Nomenclature (ISCN) compatible string is disabled and cannot be answered at this time.

*Submitting FISH Documentation
CIBMTR strongly encourages attaching the FISH report when abnormalities are identified. For further instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Questions 329 – 332: Specify FISH abnormalities (at diagnosis)

Report the ISCN compatible string, if the data field is enabled. Refer to Appendix C: Cytogenetics for more information on how to report using the ISCN functionality..

If the ISCN compatible string is not reported, then select the number of abnormalities detected by FISH at diagnosis and select all abnormalities detected.

If a clonal abnormality is detected, but not listed as an option, select Other abnormality and specify the abnormality. If multiple other abnormalities were detected, report “see attachment” and attach the final report(s) for any other abnormalities detected.

Question 333: Were cytogenetics tested via karyotyping? (at diagnosis)

Specify if karyotyping studies were performed at diagnosis. Report Yes even if there were no evaluable metaphase cells / failed (these results will be specified below).

If karyotyping studies were not performed at diagnosis or it is unknown if performed, report No or Unknown, respectively.

Question 334: Sample source

The cytogenetic sample source is important for MDS research. Indicate if the sample was from Bone marrow or from Blood. If karyotype analyses were performed on multiple samples at diagnosis, the bone marrow results are the preferred sample source to report.

Question 335: Results of test

Specify if abnormalities were detected by karyotype at diagnosis.

If karyotyping failed or the sample was inadequate, select No evaluable metaphases.

*Submitting Karyotype Documentation
CIBMTR strongly encourages attaching the karyotype report when abnormalities are identified. For further instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Question 336 – 339: Specify karyotype abnormalities (at diagnosis)

Report the ISCN compatible string, if applicable. Refer to Appendix C: Cytogenetics for more information on how to report using the ISCN functionality.

If the ISCN compatible string is not reported, then select the number of abnormalities detected by karyotype at diagnosis and select all abnormalities detected.

If a clonal abnormality is detected, but not listed as an option, select Other abnormality and specify the abnormality. If multiple other abnormalities were detected, report “see attachment” and attach the final report(s) for any other abnormalities detected.

*Reporting Multiple Positive Molecular Markers
Complete the Specify any positive molecular marker(s) identified questions if multiple molecular markers were detected at diagnosis by adding an additional instance in FormsNet3^SM.

*Molecular Marker Results
Questions capturing molecular marker results are intended to capture molecular abnormalities identified by molecular methods. Additional testing methods, such as FISH and chromosomal microarray, may identify molecular marker results but should not be reported in the molecular section(s) of the Disease Classification (2402) form. Abnormalities identified by karyotyping, FISH, or chromosomal microarray should only be reported in the cytogenetic section of the Disease Classification (2402) form.

*Submitting Molecular Marker Documentation
CIBMTR strongly encourages attaching the molecular report when abnormalities are identified. For further instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Questions 340 – 343: Specify any positive molecular marker(s) identified (at diagnosis)

Testing for molecular markers is often performed by using PCR based methods to assess specific genetic sequences. Once a marker has been identified, these methods can be repeated to detect minimal residual disease (MRD) in the recipient’s blood, marrow, or tissue. Molecular assessments include polymerase chain reaction (PCR) amplification to detect single specific disease markers; however, molecular methods are evolving and now include Sanger sequencing, and next generation sequencing (e.g., Illumina, Roche 454, Proton / PGM, SOLiD).

Specify all positive molecular markers detected at diagnosis and the amino acid change, if known. If molecular markers were not detected at diagnosis, the sample failed, testing was not completed or unknown if completed at diagnosis report None. This option should also be selected if other molecular markers were tested and resulted as negative.

If a molecular marker was detected, but not listed as an option, select Other molecular marker and specify the abnormality, along with the amino acid change, if known.

*Transformation to AML
If the recipient is being transplanted for AML that has transformed from MDS, the primary disease for infusion must be reported as AML. Disease Classification questions must be completed for both AML and MDS.

Question 344: Did the recipient progress or transform to a different MDS subtype or AML between diagnosis and the start of the preparative regimen / infusion?

Approximately one third of MDS cases transform into AML, signifying a poorer prognosis. Historically, progression to AML was defined by an increase in blood or bone marrow blasts > 20%. However, for some AML classifications, > 20% blasts in the blood or bone marrow are not required. Review Specify the AML classification above for more information.

MDS subtypes may also transform / progress from one into another. A progression from one subtype of MDS to another indicates that the number of cytopenias, number of blasts, and/or morphology of marrow sufficiently qualified them for a higher grade (i.e., more severe) MDS. For example, an MDS classified as MDS-SLD at diagnosis whose blast count rises to 8% as documented on bone marrow aspirate would have progressed to MDS-EB-1.

MDS subtypes may also transform / progress from one into another. A progression from one subtype of MDS to another indicates that the number of cytopenias, number of blasts, and/or morphology of marrow sufficiently qualified them for a higher grade (i.e., more severe) MDS.

• Example 2: At diagnosis, the disease was classified as MDS, with low blasts (MDS-LB) and the bone marrow blast count increased to 8% during treatment. This is considered a progression and would be classified as MDS with increased blasts (MDS-IB1).

Specify if the recipient’s disease progressed to AML or transformed into a different MDS subtype between diagnosis and the start of the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy). If a transformation or progression did not occur or it is unknown, select No.

Do not report a progression / transformation if the recipient’s assessments after diagnosis show that they qualify for a lower grade (i.e., less severe MDS).

• Example 3: A recipient is diagnosed with MDS with increased blasts (MDS-IB2) and assessments show that they meet the criteria for MDS with increased blasts (MDS-IB1) as a response to treatment would not qualify as progression or transformation. In this example, the disease is lower grade (i.e., less severe), rather than a higher grade (i.e., more severe) so it should not be reported as progression / transformation. See the table below for guidance in determining the severity of MDS progressions and transformations.

Table 1. Examples of Grade of MDS Progression / Transformations

Lower Grade	>>>>>>	>>>>>>	>>>>>>	Higher Grade
MDS-LB	MDS-IB1	MDS-IB2	—	AML
Childhood MDS with low blasts, hypocellular or childhood MDS with low blasts, not otherwise specified	Childhood MDS with increased blasts	—	—	AML
JMML/CMML	—	—	—	AML

Question 345: Specify the MDS subtype or AML after transformation

Indicate the recipient’s current MDS subtype after transformation. If the recipient experienced more than one transformation after diagnosis, report the most recent subtype.

If the disease progressed to AML, report the date of MDS diagnosis. If MDS progresses to AML and the recipient is on the CRF track, the AML Pre-Infusion (2010) form will also come due.

Question 346: Specify the date of the most recent transformation

Report the date of assessment that determined the most recent disease transformation (i.e., if there were multiple transformations, report the most recent). Report the date of the pathological evaluation (i.e., bone marrow) or blood / serum assessment (i.e., CBC, peripheral blood smear). Enter the date the sample was collected for pathological and laboratory evaluations.

If the exact date is not known, use the process for reporting partial or unknown dates as described in General Instructions, Guidelines for Completing Forms.

Question 347: Date of MDS Diagnosis

If MDS transformed to AML prior to infusion, report the initial diagnosis date of MDS. If the exact date is not known, use the process for reporting partial or unknown dates as described in General Instructions, Guidelines for Completing Forms.

Ensure the AML diagnosis date has been reported as the diagnosis date of the primary disease for infusion and AML is reported as the primary disease for infusion. The AML section of the Disease Classification (24020 form must be completed appropriately.

*Last Evaluation Assessments
Assessments performed at diagnosis and at last evaluation questions ask about testing performed at different time points prior to infusion. For reporting purposes, the last evaluation time point is defined as the most recent testing performed during the recipient’s work-up for infusion. Assessments performed during the last line of therapy or after the last line of therapy may be reported. If multiple assessments were performed, report the most recent. If additional therapy was given after the last assessment, do not report the test.

*Reporting Blasts Percentage
If the bone marrow pathology report states a range for blasts, enter the average of the range rounded to the nearest whole number (e.g., if 0-5%, enter 3%).
If the report indicates “sheets of blasts” or “packed marrow,” report 100%.
If the report states > n% blasts, enter (n+1)% on the form. For example, if the laboratory report indicates > 90% blasts, report 91%.
If the report states < n% blasts, enter (n-1)% on the form. For example, if the laboratory report indicates < 5% blasts, report 4%.

Questions 348 – 349: Blasts in bone marrow (at last evaluation)

Indicate whether the percentage of blasts in the bone marrow was known at the last evaluation. If Known, report the percentage documented on the laboratory report.

If the lab was assessed multiple times, report the most recent values prior to the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy). Laboratory values obtained on the first date of the preparative regimen / lymphodepleting therapy may be reported as long as the sample was collected before any administration of systemic therapy or radiation.

If multiple methods were used to detect the percentage of blasts in the bone marrow, the aspirate differential is the preferred method; followed by flow cytometry and IHC (immunohistochemical staining).

Questions 350 – 356: Complete blood count (CBC) results available (check all that apply) (at last evaluation)

These questions are intended to capture the laboratory studies performed at the evaluation prior to the start of the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy). Report the date of the CBC completed at the last evaluation and select all lab values assessed on the reported date. If labs were assessed multiple times prior to the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy), report the most recent lab.

Laboratory values obtained on the first date of the preparative regimen / lymphodepleting therapy may be reported as long as the sample was collected before any administration of systemic therapy or radiation.

• WBC: The white blood cell count is a value that represents all of the white blood cells in the blood. If the count is too high or too low, the ability to fight infection may be impaired. If known, specify the value and units of measurement as documented on the lab report.
• Neutrophils: Neutrophils are a subtype of white blood cell that fights infection. The value on the laboratory report may be a percentage or an absolute value. If an absolute value is reported, divide it by the white blood cell count for a percentage. Neutrophils are also known as polymorphonuclear leukocytes (PMNs). If known, specify the percentage as documented on the lab report.
• Blasts in blood: Blasts are not typically found in the peripheral blood; however, can appear for various reasons, including infection, blood cancer, or blood disorder. If known, report the percentage of blasts detected in the blood.
  • If a differential was performed and the percentage of plasma cells are not listed, report 0%.
• Hemoglobin: Hemoglobin is a molecule in red blood cells that delivers oxygen to tissues throughout the body. A low hemoglobin count is considered “anemia” and blood transfusions, or growth factors may be required to increase the hemoglobin level. If known, specify the value and units of measurement as documented on the lab report. Additionally, indicate if red blood cells were transfused < 30 days prior to the CBC date reported above.
  • Transfusions temporarily increase the red blood cell count, and it is important to distinguish between a recipient whose body is creating these cells and a recipient who requires transfusions to support the counts.

If a CBC was not completed at the last evaluation or unknown if completed, select None.

If the exact sample collection date is not known, use the process described in General Instructions, Guidelines for Completing Forms.

Question 252: Were cytogenetics tested (karyotyping or FISH)?

Cytogenetics is the study of chromosomes. Cytogenetic assessment involves testing blood or bone marrow for the presence of known chromosomal abnormalities that reflect the recipient’s disease. Testing methods include conventional chromosome analysis (karyotyping) or fluorescence in situ hybridization (FISH). For more information about cytogenetic testing and terminology, see Appendix C: Cytogenetics.

Indicate if cytogenetic studies were obtained at the last evaluation prior to the preparative regimen / infusion. If cytogenetic studies were obtained, select Yes.

If no cytogenetic studies were obtained, or it is unknown if chromosome studies were performed, select No or Unknown, respectively.

Question 357: Were cytogenetics tested (karyotyping or FISH)? (at last evaluation)

Cytogenetics is the study of chromosomes. Cytogenetic assessment involves testing blood or bone marrow for the presence of known chromosomal abnormalities that reflect the recipient’s disease.

Testing methods include conventional chromosome analysis (karyotyping) or fluorescence in situ hybridization (FISH). For more information about cytogenetic testing and terminology, see Appendix C: Cytogenetics.

Indicate if cytogenetic studies were obtained at the last evaluation prior to the start of the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy). If cytogenetic studies were obtained, select Yes. If no cytogenetic studies were obtained or it is unknown if chromosome studies were performed, select No.

Question 358: Were cytogenetics tested via FISH? (at last evaluation)

Specify if FISH studies were performed at last evaluation prior to the start of the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy). If FISH studies were not performed at this time point, FISH sample was inadequate, the result ‘failed,’ or it is unknown if performed, report No.

Report chromosomal microarrays / chromosomal genomic arrays as FISH assessments.

Question 359: Sample source

Indicate if the sample was from Bone marrow or from Blood. If FISH studies were performed on multiple samples at the last evaluation prior to the start of the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy), the bone marrow results are the preferred sample source to report.

Question 360: Results of tests

Specify if FISH abnormalities were detected at the last evaluation.

!International System for Human Cytogenetic Nomenclature (ISCN) Compatible String
The International System for Human Cytogenetic Nomenclature (ISCN) compatible string is disabled and cannot be answered at this time.

*Submitting FISH Documentation
CIBMTR strongly encourages attaching the FISH report when abnormalities are identified. For further instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Questions 361 – 364: Specify FISH abnormalities (at last evaluation)

Report the ISCN compatible string, if the data field is enabled. Refer to Appendix C: Cytogenetics for more information on how to report using the ISCN functionality.

If the ISCN compatible string is not reported, then select the number of abnormalities detected by FISH at the last evaluation and select all abnormalities detected.

If a clonal abnormality is detected, but not listed as an option, select Other abnormality and specify the abnormality. If multiple other abnormalities were detected, report “see attachment” and attach the final report(s) for any other abnormalities detected.

Question 365: Were cytogenetics tested via karyotyping? (at last evaluation)

Specify if karyotyping studies were performed at the last evaluation prior to the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy). Report Yes even if there were no evaluable metaphase cells (these results will be specified below).

If karyotyping studies were not performed at this time point or it is unknown if performed, report No.

Question 366: Sample source

The cytogenetic sample source is important for MPN research. Indicate if the sample was from Bone marrow or from Blood. If karyotyping analyses were performed on multiple samples at the last evaluation prior to the start of the preparative regimen / infusion, the bone marrow results are the preferred sample source to report

Question 367: Results of tests

Specify if abnormalities were detected by karyotype at the last evaluation.

If karyotyping failed or the sample was inadequate, select No evaluable metaphases.

*Submitting Karyotype Documentation
CIBMTR strongly encourages attaching the karyotype report when abnormalities are identified. For further instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Questions 368 – 371: Specify karyotype abnormalities (at last evaluation)

Report the ISCN compatible string, if applicable. Refer to Appendix C: Cytogenetics for more information on how to report using the ISCN functionality.

If the ISCN compatible string is not reported, then select the number of abnormalities detected by karyotype at the last evaluation and select all abnormalities detected.

If a clonal abnormality is detected, but not listed as an option, select Other abnormality and specify the abnormality. If multiple other abnormalities were detected, report “see attachment” and attach the final report(s) for any other abnormalities detected.

*Reporting Multiple Positive Molecular Markers
Complete the Specify positive molecular marker(s) identified questions if multiple molecular markers were detected at the last evaluation by adding an additional instance in FormsNet3^SM.

*Molecular Marker Results
Questions capturing molecular marker results are intended to capture molecular abnormalities identified by molecular methods. Additional testing methods, such as FISH and chromosomal microarray, may identify molecular marker results but should not be reported in the molecular section(s) of the Pre-TED Disease Classification (2402) Form. Abnormalities identified by karyotyping, FISH, or chromosomal microarray should only be reported in the cytogenetic section of the Pre-TED Disease Classification (2402) Form.

*Submitting Molecular Marker Documentation
CIBMTR strongly encourages attaching the molecular report when abnormalities are identified. For further instructions on how to attach documents in FormsNet3^SM, refer to the Training Guide.

Questions 372 – 375: Specify positive molecular marker(s) identified (at last evaluation)

Testing for molecular markers is often performed by using PCR based methods to assess specific genetic sequences. Once a marker has been identified, these methods can be repeated to detect minimal residual disease (MRD) in the recipient’s blood, marrow, or tissue. Molecular assessments include polymerase chain reaction (PCR) amplification to detect single specific disease markers; however, molecular methods are evolving and now include Sanger sequencing, and next generation sequencing (e.g., Illumina, Roche 454, Proton / PGM, SOLiD).

Specify all positive molecular markers detected at the last evaluation prior to the start of the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy) and the amino acid change, if known. If molecular markers were not detected at this time point, the sample failed, testing was not completed or unknown if completed at the last evaluation report None. This option should also be selected if other molecular markers were tested and resulted as negative.

If a molecular marker was detected, but not listed as an option, select Other molecular marker and specify the abnormality, along with the amino acid change, if known.

Question 376: What was the disease status? (at infusion)

This data field is intended to capture the pre-infusion disease status, based on clinical / hematologic and radiologic (if applicable) assessments. Refer to the MDS Response Criteria section for definitions of each disease response.

Report the disease status prior to the start of the preparative regimen / lymphodepleting therapy (or infusion if no preparative regimen / lymphodepleting therapy).

If the recipient was never treated for their disease after diagnosis of MDS, then select No treatment.

Question 377: Specify the cell line examined to determine HI status (check all that apply)

Indicate the cell line examined to determine hematologic improvement. To determine the cell line, review the Hematologic Improvement criteria listed in the MDS Response Criteria section.

*Transfusion Dependence Status
If the transfusion status is between Non-transfused (0 RBCs in 16 weeks) and Low-transfusion burden (3 – 7 RBCs in 16 weeks in at least 2 transfusion episodes; maximum of 3 in 8 weeks), report the status as Non-transfused.

Question 378: Specify transfusion dependence (at infusion)

If the recipient’s pre-infusion disease status included Hematologic improvement – Erythroid (HI-E), indicate the transfusion dependence at the time of determining disease status at last evaluation prior to start of the preparative regimen / infusion.

Select Non-transfused (NTD) if the recipient was without RBC transfusions as supportive care for the disease within a period of 16 weeks prior to the start of the preparative regimen / infusion.

Select Low-transfusion burden (LTB) if the recipient had 3-7 RBC transfusions within a period of 16 weeks in at least 2 transfusion episodes with a maximum of 3 RBC transfusions in 8 weeks prior to the start of the preparative regimen / infusion.

Section Updates:

Question Number	Date of Change	Add/Remove/Modify	Description	Reasoning (If applicable)
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